Académique Documents
Professionnel Documents
Culture Documents
Paediatrics
HUtchisons
Paediatrics
Second Edition
Edited by
Krishna M Goel
MD DCH frcp (Lond, Edin and Glas) Hon frcpch
Formerly Honorary Senior Lecturer of Child Health
University of Glasgow and Consultant Paediatrician
at the Royal Hospital for Sick Children
Yorkhill, Glasgow, Scotland, UK
Devendra K Gupta
MS MCh Fams (Hon) FCSS frcs (Edin) frcs (glas) FAMS (Rom) DSc (Honoris Causa)
Vice Chancellor
Chhatrapati Shahuji Maharaj Medical University
Lucknow, Uttar Pradesh, India
Foreword
Professor Terence Stephenson
Headquarter
Jaypee Brothers Medical Publishers (P) Ltd
4838/24, Ansari Road, Daryaganj
New Delhi 110 002, India
Phone: +91-11-43574357
Fax: +91-11-43574314
Email: jaypee@jaypeebrothers.com
Overseas Offices
J.P. Medical Ltd. Jaypee-Highlights medical publishers Inc.
83 Victoria Street, London City of Knowledge, Bld. 237, Clayton
SW1H 0HW (UK) Panama City, Panama
Phone: +44-2031708910 Phone: + 507-301-0496
Fax: +02-03-0086180 Fax: + 507-301-0499
Email: info@jpmedpub.com Email: cservice@jphmedical.com
Website: www.jaypeebrothers.com
Website: www.jaypeedigital.com
All rights reserved. No part of this book may be reproduced in any form or by any means without the prior permission of the
publisher.
This book has been published in good faith that the contents provided by the contributors contained herein are original, and
is intended for educational purposes only. While every effort is made to ensure accuracy of information, the publisher and the
editors specifically disclaim any damage, liability, or loss incurred, directly or indirectly, from the use or application of any of the
contents of this work. If not specifically stated, all figures and tables are courtesy of the editors. Where appropriate, the readers
should consult with a specialist or contact the manufacturer of the drug or device.
Hutchison's Paediatrics
First Edition: 2009
Second Edition: 2012
ISBN : 978-93-5025-771-5
Printed at
Contributors
Alastair Turner David James Honorary Professor of Oral and
BSc Med Sci MBChB MRCPCH MBChB Dip Ed DCH DPM FRCPsych FRCP (Glas) Maxillofacial SurgeryGlasgow
Consultant Paediatric Intensive Care Retired Child Psychiatrist formerly University, Consultant Oral and
Honorary Senior Clinical Lecturer at Department of Child and Family Maxillofacial SurgeonWest of Scotland
University of Glasgow Psychiatry Plastic and Maxillofacial Unit
Royal Hospital for Sick Children Royal Hospital for Sick Children Canniesburn Hospital
Glasgow, Scotland, UK Glasgow, Scotland, UK Glasgow Civilian Consultant
to the Royal Navy
Alison M Cairns Devendra K Gupta Scotland, UK
MSc BDS MFDS FRCS (Edin) M Paed Dent (RCPSG) MS MCh FAMS (Hon) FCSS FRCS (Edin) FRCS (Glas)
Clinical Lecturer in Paediatric Dentistry FAMS (Rom) DSc (Honoris Causa)
Kirsteen J Thompson
University of Glasgow Dental Hospital Vice Chancellor MSc FRCS (Edin)
and School, Glasgow, Scotland, UK Chhatrapati Shahuji Maharaj Medical Consultant Ophthalmologist
University Inverclyde Royal Hospital
Anne Margaret Devenny Lucknow, Uttar Pradesh, India Greenock, Scotland, UK
MBChB MRCP (UK) FRCPCH
Paediatric Respiratory Consultant Elizabeth A Chalmers Krishna M Goel
Royal Hospital for Sick Children MBChB MD MRCP (UK) FRCPath MD DCH FRCP (Lond, Edin & Glas) Hon FRCPCH
Glasgow, Scotland, UK Consultant Paediatric Haematologist Formerly Honorary Senior Lecturer of
Royal Hospital for Sick Children Child Health, University of Glasgow and
Beena Koshy Glasgow, Scotland, UK Consultant Paediatrician
MBBS MD (Paed) PDFDP
Royal Hospital for Sick Children
Assistant Professor of Developmental James Wallace Glasgow, Scotland, UK
Paediatrics, Christian Medical College BSc MR PharmS FRCPCH (Hon)
Vellore, Tamil Nadu, India Chief Pharmacist Louis Low
Yorkhill Hospitals MBChB MRCP (UK) FRCP (Lond, Edin & Glas)
Benjamin Joseph FRCPCH
Glasgow, Scotland, UK
MS Orth MCh Orth Honorary Clinical Professor in Paediatrics
Professor of Orthopaedics and Head of Jean Herbison Department of Paediatrics
Paediatric Orthopaedic Service MBChB MRCP FRCPCH DCCH MFFLM and Adolescent Medicine
Kasturba Medical College Consultant Paediatrician and Clinical The University of Hong Kong
Manipal 576104, Karnataka, India Director for Child Protection Services Queen Mary Hospital
Greater Glasgow and Clyde Health Board Pokfulam, Hong Kong
Christina Halsey Child Protection Unit
BM Bch BA (Hons) MRCP MRCPath PhD
Royal Hospital for Sick Children Lydia Edward Raj
Honorary Consultant Paediatric Glasgow, Scotland, UK
MSOT
Haematologist and Scottish Senior Reader (In-charge OT Education)
Clinical Fellow Judy Ann John Department of Physical Medicine
Department of Paediatric Haematology MD DipNB (PMR) and Rehabilitation
Royal Hospital for Sick Children Associate Professor Christian Medical College
Glasgow, Scotland, UK Department of Physical Medicine and Vellore, Tamil Nadu, India
Rehabilitation
Chikkanayakanahali Manjunatha Christian Medical College Margo L Whiteford
MD (Paed) DCH DNB (Paed) MRCP (UK) FRCPCH BSc FRCP (Glasgow)
Vellore, Tamil Nadu, India
Consultant Neonatologist Consultant Clinical Geneticist
Wishaw General Hospital Jugesh Chhatwal Ferguson-Smith Centre for Clinical Genetics
50, Netherton Road MD DCH Yorkhill Hospital
Wishaw ML2 0DP Professor and Head of Paediatrics Glasgow, Scotland, UK
Lanarkshire, Scotland, UK Christian Medical College
Mary Mealyea
Ludhiana, Punjab, India MBChB Diploma in Dermatology
Craig Williams
MD FRCP FRCPath Associate Specialist in Paediatric
Khursheed F Moos
Consultant Microbiologist MBBS (Lond) BDS (Lond) FRCS (Edin) FDS RCS (Eng
Dermatology
Royal Hospital for Sick Children and Edin) FDS RCPS (Glasg) FRCPS (Glasg) Honorary Royal Hospital for Sick Children
Glasgow, Scotland, UK FCPS (Pakistan) Honorary OBE Glasgow, Scotland, UK
vi Hutchison's Paediatrics
Krishna M Goel
Devendra K Gupta
Preface to the First Edition
The patterns of childhood disease throughout the world are changing with advancing knowledge, altering standards of living,
lifestyle and rising levels of medical care. The origins of physical and mental health and disease lie predominantly in the
early development of the child. Most of the abnormalities affecting the health and behaviour of children are determined
prenatally or in the first few years of life by genetic and environmental factors. The range of contributors indicates that they
are all experts in their particular fields. The authors have summarised the current knowledge of causation and have indicated
where health education and prevention might reduce the burden of childhood ill health. We seek in this book to provide
practical advice about the diagnosis, investigation and management of the full spectrum of childhood disorders, both medical
and surgical. We have tried to indicate and where appropriate to describe, techniques and laboratory investigations which
are necessary for advanced diagnosis and up-to-date therapy. Attention is directed to the special problems which arise in the
developing countries.
It is intended in a true apprenticeship fashion of pedagogy to provide a manageable, readable and practical account of
clinical paediatrics for medical undergraduates, for postgraduates specialising in paediatrics and for general practitioners
whose daily work is concerned with care of children in health and sickness. The authors had to be selective in deciding what
to exclude in order to keep the book manageable and practical.
We would like to express our immense gratitude to our colleagues who have provided us with help and advice in writing
this book. The willingness with which they gave us their time in spite of many other commitments leaves us permanently in
their debt.
We are especially grateful to the parents and to the many children and their families who contributed to our knowledge
and understanding of paediatrics and willingly gave permission to reproduce photographs of their children. Also a book such
as this cannot be written without reproducing material reported in the medical literature. We acknowledge here with gratitude
the permission granted free of charge by individual publishers to reproduce material for which they hold the copyright.
Our deepest thanks go to Professor Forrester Cockburn, Professor Dan Young and Professor Robert Carachi, who most
kindly passed on to us their rights of the book entitled Childrens Medicine and Surgery from which some material has been
used.
We particularly wish to thank the Hutchison family for allowing us to use the name of the late Professor James Holmes
Hutchison, the author of Practical Paediatric Problems to enable us to title this book Hutchisons Paediatrics. Even today
Hutchisons name is highly respected in the paediatric world.
Finally, we would like to express our thanks to Jean Hyslop, Medical Artist, who created the line drawings and art work
and helped to integrate the text with the illustrations.
Krishna M Goel
Devendra K Gupta
Contents
Defining organised play activities (play therapy) 758 Legal system 801
Play: a medium of communication 759 Section 1 803
Methods of play therapy 759 Section 2 803
Benefits of organised play 759 Section 3 803
35. Paediatric Rehabilitation 763 Child protection process for all staff 804
Judy Ann John, Lydia Edward Raj Standard operating procedure in relation to child
protection concerns 814
Introduction 763
The rehabilitation programme 764 38. Practical Paediatric Procedures 821
Alastair Turner, Robert Carachi, Krishna M Goel
36. Prescribing for Children 780
James Wallace Introduction 821
Preparation for practical procedures 821
The challenge 780 Restraint 821
Pharmacokinetics 780 Sedation and analgesia for clinical procedures 822
Compliance and concordance 781 Routine practical procedures 824
The issues in practice 782 Other practical procedures 838
Prescribing in paediatrics 783
Other issues 785 Appendices 855
37. Child Abuse and NeglectHow do We Protect Appendix a: guide to biochemical values 855
these Children? 786 Appendix b: a guide to normal ranges for the
Jean Herbison fbc in infancy and childhood 857
Introduction 786 Appendix c: surface area nomograms in
Various forms of abuse 786 infants and children 858
Emotional abuse and neglect 792 Appendix d: percentiles of age specific blood
Physical abuse 793 pressure measurements in boys and girls 859
Child sexual abuse 798 Appendix e: childhood myositis assessment
Fabricated and induced illness 799 scale (cmas) scoring sheet 863
Child trafficking 799
Child protection standardised procedures 801 Index 865
Krishna M Goel, Robert Carachi
C H A P T E R
Paediatric History and
Examination 1
THE HISTORY How is Knowledge Acquired?
Semeiology Reading: 1020% retention
Taught by others: 10% retention, e.g. lectures, tutorials,
The study of symptoms. computer programs
Personal experience: 80% retention, e.g. bedside
Disease
teaching.
A condition in which, as a result of anatomical change or
physiological disturbance, there is a departure from the normal A Description of the Disease
state of health. There is a lot of variation in normal people. Knowledge of the causation (aetiology)
Pathological, anatomical and functional changes which
CLINICAL MANIFESTATIONS OF DISEASE are present (morphology)
Symptoms Assembly of all the relevant facts concerning the past and
present history (symptoms)
Something the patient feels or observes which is abnormal,
Full clinical examination and findings (signs)
e.g. pain, vomiting, loss of function. A good history provides
Simple laboratory tests, such as an examination of the
a clue to the diagnosis in 80% of patients.
urine or blood and X-rays (investigations).
Signs
Prognosis
Physical or functional abnormalities elicited by examination,
Depends on:
e.g. tenderness on palpation, a swelling, a change in a reflex
picked up on physical examination. Always inspect, palpate, Nature of the disease
percuss then auscultate. Severity
Stage of the disease.
The Patient Statistical statements about prognosis can often be made,
e.g. the average expectation of life in chronic diseases or
Why do patients go to the doctor? the percentage mortality in the acute cases. These must be
They are alarmed. They believe themselves to be ill and applied with great caution to individual patients. Patients
are afraid
expect this more and more with internet access. Often
Relief of symptoms
information has to be interpreted. They may be testing your
Cure
knowledge and comparing it to other doctors or information
Prognosis.
obtained.
The Doctor
Syndrome
Helps to diagnose the disease
A group of symptoms and/or signs which is commonly occur
Symptoms + signs differential diagnosis D
together, e.g. Downs syndrome and Beckwith-Wiedemann
definitive diagnosis
syndrome (*).
Acquired knowledge allows recognition + interpretation
+ reflection therapy + prognosis. * Oxford dysmorphology database
2 Hutchison's Paediatrics
After the patient has given a general description of his Pain in chest (19): Site on exertion or at rest, character,
illness, the system mainly involved will usually, but by radiation, duration, relief by drugs, etc. accompanying
no means always, be obvious. The patient should then be sensations, e.g. breathlessness, vomiting, cold sweat, pallor,
questioned about the main symptoms produced by diseases frequency, other relieving factors.
of this system. This should be followed by enquiries directed
Swelling of ankles (23): Time of day.
towards other systems. Remember different systems may
produce similar symptoms. Swelling of abdomen (27): Tightness of trousers or skirt and
This systematic enquiry runs from the head to the toes bloatedness.
(32 questions). However, relevant questions are grouped
together under systems. Here are some examples. Palpitation (20): Patient conscious of irregularity or
forcefulness of heart beat.
Alimentary Tract Questions Dizziness and faints: Hypertension pain.
Abdominal pain or discomfort (24): Site, character, e.g. Pain in the legs on exertion (22): Intermittent claudication at
constant or colicky, radiation, relationships to food and
rest, or exertion and other vascular problems.
bowel actions. Shift in site.
Coldness of feet (23): Raynaunds phenomenon.
Nausea and vomiting (15): Frequency and relationship to
food, etc. (positive vomiting), amount of vomitus, contents, Dead fingers or toes (22): Pain, sensation, ulceration and
colour, blood (haematemesis), etc. diabetes.
Paediatric History and Examination 3
Respiratory System Questions Speech disturbance (9): Duration, onset, nature. Problems in
reading or understanding.
Cough (12): Character, frequency, duration, causing pain
and timing. Productive. Genitourinary System Questions
Sputum (13): Quantity, colour (frothy, stringy and sticky
Micturition (29): Frequency during day and night, retention,
odour), colour when most profuse (during the day and the
dribbling, and amount of urine passed. Pain on micturition
year and the affect of posture (bronchiectasis) presence of
(dysuria). Stress incontinence, urgency incontinence.
blood haemoptysis. Is the blood red or brown? Is it pure
blood or specks? e.g. acute or chronic bronchitis. Urine (30): Colour and amountsmell, blood, colour, frothy.
Breathlessness (11): On exertion or at rest. Expiratory Lumbar pain (28): Radiation, history of trauma and
difficulty, precipitating factors, cough, fog, emotion, change mechanical.
of environment and wheezing.
Swelling of face or limbs (23): Presence on rising, drugs,
Pain in chest: Location, character, affected by respiration, improve with movement and pain.
coughing, position (pain) and weight loss.
Menstruation (31): Age of onset (menarche) and age of
Hoarseness (10): With or without pain (involvement of cessation (menopause). Regularity, duration, amount of
recurrent laryngeal nerve) and other associated features, e.g.
loss and pain (dysmenorrhoea). Inter-menstrual discharge
neurological.
character, blood or otherwise. Vaginal discharge, quantity,
Throat (10): Soreness, tonsillitis, ulcers, infection. colour (normally clear), smell and irritation. Any hormone
Nasal discharge or obstruction (7): replacement therapy (HRT) and child bearing age.
Mental state (3): Memory, independent opinion of relative or Stiffness: Effect of exercise.
friend sought. Orientation. Previous bone or joint injury: Pain in joints. Where pain is
Headache (2): Character, site, duration, associated symptoms, worse in the morning or later during day or night. Whether
e.g. vomiting, aura and timing. it radiates from one joint to another.
Weakness or paralysis of limbs or any muscles (21): Sudden, Skin Questions
gradual or progressive onset, duration and visual disturbance.
Occupation (32): Exposure to irritants and drugs.
Numbness or pins and needles in limbs or elsewhere (22):
Paraesthesia, back pain, diabetes. Rashes: Type, situation, duration, any treatment, painful and
itching (psoriasis).
Giddiness or staggering (5): True vertigo, clumsiness,
staggering and ataxia. Past history:
Diabetes
Visual disturbance (4): Seeing double (diplopia) dimness, zig Hypertension
zag figures (fortification spectra). Rheumatic fever
Deafness or tinnitus (6): Discharge from ears, pain and Heart disease
hearing loss. Cystic fibrosis (CF)
4 Hutchison's Paediatrics
habits. An articulate older child can describe feelings and should be recorded. Details of any intrapartum or perinatal
symptoms more accurately, as the childs memory for the problems should be recorded.
time and sequence of events may be more precise, than the
Dietary History
parents.
The duration of breastfeeding should be recorded or the type
Key Learning Point of artificial feed and any weaning problems. The dietary
history can be of major importance in paediatric history-
Establishing rapport
taking. If the patient is neither thriving nor has vomiting,
The paediatrician should start the interview by welcoming and
diarrhoea, constipation or anaemia then the physician must
establishing rapport with the parent(s) and the child. Always
obtain a detailed dietary history. The dietary history should
refer to the infant or child by name rather than by him, her
not only include solid foods, but also the consumption of
or the baby. Also ask children about their clothes, siblings
liquid foods and any other supplements, such as vitamins. In
name, friends name, their toys, what book, games or TV
this way the quality of the diet and the quantity of nutrients
programers they enjoy. Thus spending sometime at the start of
can be assessed and compared to the recommended intake.
the interview would put both the child and the parents at ease.
Any discrepancy between the actual and recommended intake
may have a possible bearing on the diagnosis.
Past Medical History
Developmental History
The past history is the documentation of significant events
Inquiries about the age at which major developmental
which have happened in the childs life, and which may be
milestones in infancy and early childhood were achieved
of relevance in coming to a diagnosis. Therefore the doctor are necessary when faced with an infant or child who is
should try to obtain relevant information concerning the past suspected of developmental delay. On the other hand the
from the family and any other sources that are available. child who is doing well at school and whose physical and
It is useful, if the events are recorded in the sequence of social activities are normal, less emphasis on the minutiae
their occurrence. A careful history should contain details of development is needed. Some parents are vague about the
of pregnancy, delivery, neonatal period, early feeding, the time of developmental achievements unless, very recently
childs achievement of developmental milestones and details acquired, but many have clear recall of the important events
of admissions to hospital, with date, place and reason for such as smiling, sitting and walking independently. It can be
admission. A complete list of current medication including helpful to enquire whether this childs development paralleled
vitamins and other supplements should be obtained. An that of other children.
enquiry should be made of any drug or other sensitivity
which should always be prominently recorded. Details of Family and Social History
immunisation and all previous infectious diseases should be The health and educational progress of a child is directly
elicited. related to the home and the environment. Medical, financial
and social stresses within the family sometimes have a direct
Key Learning Point
or indirect bearing on the childs presenting problem. It is,
Dietary history is of vital importance in paediatric history- therefore, essential to know about the housing conditions and
taking especially if the child is neither thriving nor has some information of parental income and working hours, as
vomiting, diarrhoea, constipation or anaemia. well as the childs performance in school and adjustment to
playmates.
The family history should be thoroughly evaluated.
Mothers Pregnancy, Labour, Delivery
The age and health of the close relatives are important to
and the Neonatal Period
record. Height and weight of parents and siblings may be of
The younger the child, the more important is the information help especially when dealing with children of short stature,
about the period of intrauterine life. The history of obesity, failure to thrive, or the infant with an enlarged head.
pregnancy includes obstetric complications during the Consanguinity is common in some cultures and offspring
pregnancy; history of illness, infection or injury and social of consanguineous marriages have an increased chance of
habits, e.g. smoking of the mother are important. Drug or receiving the same recessive gene from each parent and thus
alcohol ingestion and poor diet during pregnancy may have developing a genetically determined disease. Therefore, it is
an adverse effect on the foetus and lead to problems. The important to draw a family tree and to identify children at
estimated length of gestation and the birth weight of the baby high-risk of genetic disease, and to make appropriate referrals.
6 Hutchison's Paediatrics
Key Learning Point are outwith the 3rd to 97th centile for children of that sex and
age further study is indicated. If previous records of height,
A history of recent travel abroad, particularly in tropical areas,
weight or head circumference are available for comparison
is important as the child may have a disorder uncommon in
with the current measurements this may provide considerable
his/her own country, but having been contracted in another
help towards diagnosis and management. Inquiry of parental
country where disease may be endemic.
height, weight or head size may also be important, e.g.
familial macrocephaly or constitutional short stature.
Physical Examination
Key Learning Point
The physical examination of the paediatric patient requires
Allow the child-patient to see and touch the stethoscope,
a careful and gentle approach. It should be carried out in
auriscope, ophthalmoscope and other tools, which are going
an appropriate environment with a selection of books or
to be used during examination. Ask the child, which ear or
toys around, which can be used to allay the apprehension
which part of the body the child would like to be examined
and anxiety of the child. More can be learned by careful
first. It is vital to use the reassuring voice throughout the
inspection than by any other single examination method. The
examination of the child.
baby should be examined in a warm environment in good
light. Nappies must be removed to examine the baby fully.
The doctor must look first at the baby as a whole noting General Inspection
especially the colour, posture and movements. Proceed to a The general appearance of the child may suggest a
more detailed examination starting at the head and working particular syndrome. Does the child look like the
down to the feet Top to Toe. rest of the family? The facies may be characteristic in
It is important to realise that the child may be apprehensive Downs syndrome and other chromosomal disorders
with a stranger, especially when faced with the unfamiliar or in mucopolysaccharidoses. Peculiar odours from an
surroundings of a surgery or hospital outpatient department. infant may provide a clue to diagnosis of aminoacidurias,
It is essential that the doctor be truthful with the child such as maple syrup disease (maple syrup like odour),
regarding what is going to be done. The child should never phenylketonuria (mousy odour), or trimethylaminuria
be made to face sudden unexpected manoeuvres and should (fishy odour). A more detailed examination should then
be allowed to play with objects such as the stethoscope. It be performed. The most valuable of the doctors senses
may be useful to let him or her examine a toy animal or doll are his eyes as more can be learned by careful inspection
to facilitate gaining confidence. Infants and young children and also on watching the patients reactions than any other
are often best examined on the mothers lap where they feel single procedure.
more secure. The doctor should ensure that his hands and
instruments used to examine the child are suitably warmed. Colour
It is not always mandatory to remove all the childs clothes, Should be pink with the exception of the periphery, which
although it is often essential in the examination of the acutely may be slightly blue. Congenital heart disease is only
ill child. Procedures, which may produce discomfort, such as suggested if the baby has central cyanosis. A pale baby may
examination of the throat, ears or rectal examination should be anaemic or ill and requires careful investigation to find
be left until towards the end of the examination. The order of the cause. A blue baby may have either a cardiac anomaly
the examination may be varied to suit the particular childs or respiratory problems and rarely methaemoglobinaemia.
needs. Awareness of the normal variations at different ages
is important. Key Learning Point
A thorough physical examination is a powerful Central cyanosis
therapeutic tool especially if the problem is one primarily Central cyanosis in a child of any age should always raise
of inappropriate parental anxiety. Understandably parents the possibility of congenital heart disease. Ideally, the best
do not usually accept reassurance, if the doctor has not areas to look for central cyanosis are the tongue and buccal
examined the child properly. Examination of the infant or mucosa, not the limbs and the nails.
child is often preceded by recording the patients height,
weight and head circumference on the growth chart. This
may have been done by a nurse before the doctor sees the Posture and Movements
family. These measurements are plotted on graphs or charts, A term baby lies supine for the first day or two and has
which indicate the percentiles or standard deviations at the vigorous, often asymmetric movements of all limbs. In
various ages throughout childhood. If these measurements contrast a sick baby adopts the frog position with legs
Paediatric History and Examination 7
Skin
The skin is a major body organ which, because of the
larger surface area in relationship to weight, of the young
means that the skin is relatively more important in the
immature. It forms a barrier against environmental attack Fig. 1.1: Top of head anterior fontanelle and cranial sutures
and its structure and function reflects the general health of
the child, i.e. in states of malnutrition and dehydration. Head
The presence of any skin rash, its colour and whether there The head should be inspected for size, shape and symmetry.
are present macules, papules, vesicles, bullae, petechiae Measurement of the head circumference [occipitofrontal
or pustules should be recorded (Table 1.2). The skin circumference (OFC)] with a non-elastic tape by placing
texture, elasticity, tone and subcutaneous thickness should it to encircle the head just above the eyebrows around
be assessed by picking up the skin between the fingers. maximum protuberance of the occipital bone should be
Pigmented naevi, strawberry naevi, haemangiomata or performed and charted. In the infant the skull should be
lymphangiomata may be present and may vary in size and palpated to determine the size and tension in the fontanelles
number. They may be absent or small at birth and grow in and assess the skull sutures (Fig. 1.1). Premature fusion of
subsequent days or weeks. sutures suggests craniostenosis. In the neonate the posterior
fontanelle may be very small and subsequently closes by
Key Learning Point
3 months of age, but the anterior fontanelle is larger, only
Port-wine stain closing at around 18 months. A tense and bulging fontanelle
Unilateral port- wine stain over the distribution of the ophthalmic suggests raised intracranial pressure and a deeply sunken one
division of the trigeminal nerve is usually a manifestation of suggests dehydration.
Sturge-Weber syndrome. It may be associated with seizures, Large fontanelles, separation of sutures, delayed closure
glaucoma, hemiparesis and mental retardation. of the fontanelles may be associated with raised intracranial
Terminology Definition
Macule Area of discoloration, any size, not raised-flat with skin
Papule Small raised lesion (< 5 mm)
Petechiae Haemorrhage in skin, non-blanching (< 1 mm)
Purpura Haemorrhage in skin, non-blanching (210 mm in diameter)
Ecchymoses Large bruise, non-blanching
Vesicle Small blister, elevated, fluid-filled (< 5 mm)
Bullae Large blister, elevated, fluid-filled (> 5 mm)
Weal Elevation in skin, due to acute oedema in dermis, surrounding erythematous macule
Pustule Elevated, pus-filled
Lichenification Thickened skin, normal lines in skin more apparent
8 Hutchison's Paediatrics
Eyes
These should be inspected for subconjuctival haemorrhages
which are usually of little importance, for cataracts,
for papilloedema and congenital abnormalities, such as
colobomata (Figs 1.3A and B). Rocking the baby from the
supine to vertical position often results in the eyes opening
so they can be inspected. Squint is a condition in which early
diagnosis and treatment is important. There are two simple
tests which can be carried out to determine whether or not a
Fig. 1.2: Method of restraining a child for examination of the ear squint is present.
pressure or other systemic disorders, such as hypothyroidism 1. The position of the corneal light reflection should
and rickets. normally be in the centre of each pupil if the eyes are both
aligned on a bright source of light, usually a pen torch.
Key Learning Point Should one eye be squinting then the reflection of the light
Occipitofrontal circumference from the cornea will not be centred in the pupil of that
An abnormally large head (more than 97th centile or 2 eye. It will be displaced outwards, if the eye is convergent
SD above the mean) is due to macrocephaly, which may and inwards towards the nose, if the eye is divergent. It
be due to hydrocephalus, subdural haematoma or inherited may be displaced by such a large amount that it is seen
syndromes. Familial macrocephaly (autosomal dominant) is a over the iris or even over the sclera, where of course it
benign familial condition with normal brain growth. may be rather more difficult to identify, but with such
obvious squints the diagnosis is usually not in doubt.
Ears 2. In the cover test one chooses an object of interest
for the child, e.g. a brightly coloured toy with moving
Position and configuration of the ears should be observed. components. When the child is looking at the object of
Whilst abnormalities, such as low setting of the ears is
interest the eye thought to be straight is covered with
frequently associated with renal tract anomalies absence
an opaque card and the uncovered eye is observed to
of an ear or non-development of the auricle will require
see whether it moves to take up fixation on the object
early referral to an otolaryngologist. It often requires
of interest. If the child has a convergent squint then the
the parent to hold the child on his or her lap and provide
reassurance during the examination. Methods of doing eye will move laterally to take up fixation, and this is the
this are illustrated in Figure 1.2. Parents are usually very usual situation, since convergent squints are four times
competent in detecting hearing impairment. The exception more common than divergent squints. If the eye were
to this is where the child is mentally retarded. All infants divergent it would move medially.
should be given a screening test for hearing at 6 months of The most common cause for apparent blindness in young
age. Simple testing materials are required, e.g. a cup and children is developmental delay. Assessment of whether a
spoon, high and low pitched rattles, and devices to imitate young baby can see is notoriously difficult, fixation should
bird or animal sounds, or even snapping of finger tips are develop in the first week of life, but an early negative
usually effective if hearing is normal. The sounds should response is of no value as the absence of convincing evidence
be made quietly at a distance of 23 feet out of view of the of fixation is not synonymous with blindness. The failure
child. By 6 months of age a child should be able to localise to develop a fixation reflex results in ocular nystagmus, but
sound. To pass the screening test the child should turn and these roving eye movements do not appear until the age of
look directly at the source of the sound. 3 months.
Paediatric History and Examination 9
Face
A Abnormalities of facial development are usually obvious and
an example is the infant with cleft lip. Associated with this
there may be a cleft palate, but full visual examination of
the palate including the uvula is necessary to ensure that the
palate is intact and there is not a submucous cleft of the soft
palate or a posterior cleft. Submucous and soft palate clefts
cannot be felt on palpation.
Mouth
Inspection of the mouth should include visualisation of the
palate, fauces, gum disease and the dentition (Fig. 1.4).
A cleft lip is obvious, but the palate must be visualised to
exclude a cleft. The mouth is best opened by pressing down
in the middle of the lower jaw. A baby is rarely born with
teeth, but if present these are almost always the lower central
incisors. The soft palate should be inspected to exclude the
possibility of a submucous cleft which could be suggested
by a bifid uvula. Small fibromata are sometimes seen in the
B gums. They are white and seldom require treatment. These
Figs 1.3A and B: (A) Congenital cataract and (B) Papilloedema are normal. The lower jaw should be seen in profile as a
receding chin (micrognathia) may be the cause of tongue
A misleading response may be obtained when a bright swallowing or glossoptosis (Pierre Robin syndrome) and it
light stimulus is applied to a child preferably in a dimly may be associated with a cleft palate.
lit room. The normal response is a blinking or screwing
up the eyes and occasionally by withdrawing the head. Neck
This is a subcortical reflex response and may be present
Examination of the neck may reveal congenital goitre and
in babies despite them having cortical blindness. The
midline cysts which may be thyroglossal or dermoid in
absence of this response increases the probability of
origin. Lateral cysts, which may be of branchial origin or
blindness.
sometimes there may be extensive swellings, which may
Key Learning Point be cystic hygroma or lymphangiomata. In early infancy a
Distraction and play sternomastoid tumour may be palpable in the mid region of
If the doctor cannot distract the infant or make the awake the sternomastoid muscle. Associated with this there may
infant attend to an object, look at the paediatricians face, or be significant limitation of rotation and lateral flexion of the
a sound, consider a possible visual or hearing deficit. neck. Palpation along the clavicle will define any tenderness
or swelling suggestive of recent or older fractures.
10 Hutchison's Paediatrics
Lungs
Small children frequently cry when the chest is percussed
and when a cold stethoscope is applied. If the mother holds
the child over her shoulder and soothes him, it is often easier
to perform a thorough chest examination. Light percussion
can be more valuable than auscultation in some situations,
but the basic signs are similar to those found in an adult.
Breath sounds are usually harsh, high pitched and rapid. Any
adventitious sounds present are pathological. Percussion of
the chest may be helpful to pick up the presence of a pleural
Fig. 1.5: Pectus excavatum (funnel-chest) effusion (stony dull), collapse, consolidation of a lung (dull)
or a pneumothorax (hyper-resonant). These pathological
Chest
states are usually associated with an increase in the respiratory
The shape, chest wall movement and the nature and rate of rate, as well as clinical signs of respiratory distress.
the breathing (3040 per minute) as well as the presence
of any indrawing of the sternum and rib cage should be Abdomen
noted. In a normal baby without respiratory or abdominal In the infant the abdomen and umbilicus are inspected and
problems the abdomen moves freely during breathing and attention should be paid to the presence of either a scaphoid
there is very little chest movement. Most of the movements abdomen, which in a neonate may be one of the signs of
of the breathing cycle are carried out by the movement of the diaphragmatic hernia or duodenal atresia or a distended
diaphragm. The nipples and axilliary folds should be assessed abdomen, which suggests intestinal obstruction, especially
to exclude conditions, such as absent pectoral muscles. In if visible peristalsis can be seen. Peristalsis from left to right
Poland syndrome there is amastia, associated with ipsilateral suggests a high intestinal obstruction whereas one from the
absence of sternal head of pectoralis major. Ten per cent right to the left would be more in keeping with low intestinal
may have dextrocardia, dextroversion, or syndactyly. obstruction. Any asymmetry of the abdomen may indicate
Anterior chest wall deformities, such as pectus excavatum the presence of an underlying mass. Abdominal movement
(funnel chest) and pectus carinatum (Pigeon chest) should be should be assessed and abdominal palpation should be
recorded (Fig. 1.5). performed with warm hands.
Palpation of the abdomen should include palpation for the
Cardiovascular liver, the edge of which is normally felt in the new born baby,
Examination of the cardiovascular system of infants and the spleen which can only be felt if it is pathological and the
children is carried out in a similar manner to that of adults. The kidneys which can be felt in the first 24 hours with the fingers
examiner should always feel for femoral pulses and ascertain and thumb palpating in the renal angle and abdomen on each
whether there is any radiofemoral or brachiofemoral delay as side. The lower abdomen should be palpated for the bladder
this would suggest the possibility of coarctation of the aorta. and an enlargement can be confirmed by percussion from a
The most important factor in recording the blood pressure of resonant zone, progressing to a dull zone. In the baby with
children is to use a cuff of the correct size. The cuff should abdominal distension where there is suspicion of perforation
cover at least two-thirds of the upper arm. If the cuff size and free gas in the abdomen, the loss of superficial liver
is less than this a falsely high blood pressure reading may dullness on percussion may be the only physical sign present
be obtained. In small infants relatively accurate systolic and early on. Areas of tenderness can be elicited by watching
diastolic pressures as well as mean arterial pressure can be the babys reaction to gentle palpation of the abdomen.
obtained by use of the Doppler method. The apex should be There may be areas of erythema, cellulitis, and oedema of
visible and palpable and the position noted. The precordial the abdominal wall and on deeper palpation crepitus can
areas should be palpated for the presence of thrills. If the occasionally be felt from pneumatosis intestinalis (intramural
apex beat is not obvious look for it on the right side of the gas in the wall of the bowel).
chest as there could be dextrocardia or a left-sided congenital Auscultation of the abdomen in the younger patients
diaphragmatic hernia with the heart pushed to the right or gives rather different signs than in the adult. The infant even
Paediatric History and Examination 11
Limbs
Upper and lower limbs are examined in detail. Hands and
feet should be examined for signs and those experienced in
dermatoglyphics may define a finger print pattern which is
consistent in various syndromes. The presence of a simian
palmar crease may suggest trisomy 21 (Downs syndrome) and
thumb clenching with neurological disease. The feet, ankles
and knees should be examined for the range of movement in
the joints and tone of the muscles. The femoral head may be
outside the acetabulum at birth in true dislocation of the hip or
it may be dislocated over the posterior lip of the acetabulum
by manipulation, in which case the hip is described as
unstable, dislocatable or lax. There are conditions in which
Fig. 1.6: Ambiguous genitalia in a 10-year-old girl (clitromegaly, labial the acetabulum is hypoplastic and shallow and the femoral
fusion and empty scrotal folds of virilised female) head itself is distorted. Congenital dislocation of the hip is
more common after breech deliveries in girls and in certain
in the presence of peritonitis may have some bowel sounds parts of the world. All newborn infants should be screened
present. However, in the presence of ileus or peritonitis shortly after birth. The infant is placed supine with the legs
breath sounds become conducted down over the abdomen to towards the examiner and each hip is examined separately.
the suprapubic area and in even more severe disorders the The knee and hip of the baby are flexed to 90% and the
heart sounds similarly can be heard extending down over the hip fully abducted by placing the middle finger over the
abdomen to the suprapubic area. greater trochanter and the thumb on the inner side of the
Perineal examination is important in both sexes. thigh opposite to the position of the lesser trochanter. When
Examination of the anus should never be omitted. the thigh is in the mid-abducted position, forward pressure
Occasionally the anus is ectopic, e.g. placed more anteriorly is exerted behind the greater trochanter by the middle finger.
than it should be, stenotic or even absent. The rectal The other hand holds the opposite femur and pelvis steady. A
examination is an invasive procedure and should be carried dislocated femoral head is felt to slip over the acetabular ridge
out in a comfortable warm environment, preferably with the and back into the acetabulum as a definite movement. This
child in the left lateral position and the mother holding the part of the test is called the Ortolani manoeuvre. The second
hand of the child at the top end of the bed. part of the test is the Barlow procedure. With the infant still
The testes in boys born at term should be in the scrotum. on his back and the legs and hands in the same position the
The prepuce cannot be and should not be retracted. It is hip is brought into the position of mid-abduction with the
several months or years before the prepuce can be retracted thumb exerting gentle pressure laterally and posteriorly; at
and stretching is both harmful and unnecessary. In girls the the same time the palm exerts posterior and medial pressure.
labia should be separated and genitalia examined. If a hip is dislocatable the femur can be felt to dislocate over
The presence of a swelling in the scrotum or high in the posterior lip of the acetabulum. There is need for caution
the groin may suggest torsion of a testis and requires in performing this test and no force should be employed.
urgent attention. The testis which cannot be palpated in the Caution is particularly required in infants born with neural
scrotum and cannot be manipulated into the sac indicates the tube defects and paralysis of the lower limbs.
presence of an undescended testis which needs to be explored The knees, ankles and feet should be examined.
and corrected before the age of 2 years. A swelling in the Dorsiflexion of the feet should allow the lateral border to
scrotum which has a bluish hue to it suggests the presence come in contact with the peroneal compartment of the leg.
of a hydrocoele due to a patent processus vaginalis and one Failure indicates a degree of talipes equinovarus (TEV)
can get above such a swelling in most children. Palpation which is of concern to the parents although with simple
of the scrotum is initially for testes but if gonads are not physiotherapy there are seldom long-term problems in the
present then palpation in the inguinal, femoral and perineal absence of underlying neurological abnormality.
regions to determine presence of undescended or ectopic
Spine
testes should be carried out.
Conditions, such as hypospadias, epispadias, labial With the baby held face-downwards fingers should be run
adhesions or imperforate hymen or ambiguous genitalia along the spine excluding spinal defects, such as spina bifida
should be diagnosed on inspection (Fig. 1.6). occulta and noting the presence of the common post-anal
12 Hutchison's Paediatrics
dimple, a tuft of hair, a pad of fat and haemangioma. A so that his feet are touching a firm surface he will raise one
Mongolian blue spot is commonly seen over the sacrum in leg and hesitatingly put it down in front of the other leg,
Asian babies. The presence of a posterior coccygeal dimple taking giant strides forwards. This is the primitive walking
or a sacral pit is common in babies and is due to tethering reflex.
of the skin to the coccyx. When one stretches the skin and Tendon reflexes, such as the biceps and knee jerks
the base of the pit can be seen then nothing needs to be are easily obtainable but the ankle and triceps jerks are
done about it. Very rarely there is communication with the not readily elicited. Important as an indication of nervous
spinal canal which could be the source of infection and cause system malfunction are muscle tone, posture, movement
meningitis. and the primitive reflexes of the newborn that have been
described. Plantar reflex is usually extensor and is of
Stool and Urine Examination
little diagnostic importance in the first year. Delay in
Examination of a stool which is preferably fresh is often disappearance of the primitive reflexes suggests cerebral
informative. The colour, consistency and smell are noted as damage.
well as the presence of blood or mucus. Urine examination
is also important in children since symptoms related to the A GUIDE TO EXAMINATION OF A CHILD-PATIENT
urinary tract may be nonspecific.
Checklist of Bodily Systems
Neurological Examination
General Examination
The neurological examination of the young infant and child is
different from that routinely carried out in the adult. Muscle Is the child unwell, breathless or distressed?
tone and strength are important parts of the examination. In Level of consciousness
infants muscle tone may be influenced by the childs state Is the child cyanosed, pale or jaundiced (in carotinaemia
of relaxation. An agitated hungry infant may appear to be the sclerae are not yellow)?
hypertonic, but when examined in a cheerful post-prandial ENT examination: Childs ears, nose and throat
state the tone reverts to being normal. The examination of Is the child dehydrated?: Skin turgor, sunken eyes,
the neurological system cannot be complete without the sunken fontanelle
evaluation of the childs development level relating to gross Nutritional state
Peripheral perfusion: Capillary refill time should occur
motor, fine motor and vision, hearing and speech and social
within 2 seconds
skills. All older children should be observed for gait to detect
Does the child have any dysmorphic features, i.e. an
abnormal coordination and balance.
obvious syndrome?
Older children may be tested for sense of touch and
Check blood pressure, temperature and pulses, i.e. radial
proprioception as in adults. Tests of sensation as well as
and femoral
motor power must be performed in the paediatric patient,
Hands: For clubbing (look at all fingers), peripheral
but are difficult to assess in the very young child. The
cyanosis, absent nails (ectodermal dysplasia), pitted nails
normal newborn has a large number of primitive reflexes
(psoriasis), splinter haemorrhages (Fig. 1.7).
(Moro, asymmetric tonic neck, glabellar tap, sucking and
rooting process). The Moro-reflex is a mass reflex,
which is present in the early weeks after birth. Its absence
suggests cerebral damage. It consists of throwing out of the
arms followed by bringing them together in an embracing
movement. It can be demonstrated by making a loud noise
near the child. The sucking reflex is present at birth in
the normal baby as is the swallowing reflex. If the angle
of the babys mouth is touched by the finger or teat the baby
will turn his head towards it and search for it. It is looking
for its mothers nipple and is known as the rooting or
searching reflex.
The grasp reflex is illustrated by gently stroking the back
of the hand so that the fingers extend and on placing a finger
on the palm of the baby it takes a firm grip. Similar reflexes
are present in the toes. If the baby is held up under the arms Fig. 1.7: Finger clubbing in cystic fibrosis
Paediatric History and Examination 13
A
A
B B
Figs 1.8A and B: (A) Hyperextensible skin and (B) Genu recurvatum Figs 1.9A and B: Goitre in Hashimotos thyroiditis:
in Ehlers-Danlos syndrome (A) AP neck and (B) Lateral view neck
Height, weight and head circumference (OFC): Plot Head circumference: Measure the childs OFC and
these on a percentile chart plot it on a growth chart (if not done under general
Rash: Generalised or localised, bruises, petechiae, examination).
purpura, birth marks (learn dermatological terminology
(Table 1.2) Neck
Abnormal pigmentation: Caf au lait spots, Mongolian Short, webbed (Turner syndrome), torticollis
blue spots, elasticity of skin and hypermobility of joints Thyroid: Enlarged, bruit
(Figs 1.8A and B) Swellings:
Palpate for lymph nodes in the neck (from behind), Midline: Thyroglossal cyst, goitre (Figs 1.9A and B)
axillae, groins any subcutaneous nodules Lateral: lymph nodes, branchial cyst, cystic hygroma,
Teeth: Any dental caries, a torn lip frenulum (physical sternomastoid tumour.
abuse)
Genitalia: Injuries to genitalia or anussexual abuse RESPIRATORY SYSTEM
Head shape: Normal, small (microcephaly, large
(macrocephaly), plagiocephaly, brachycephaly, oxycephaly Inspection
(turricephaly). Feel the sutures. Is there evidence of Use of accessory muscles of respiration
craniostenosis? Intercostal recession, any stridor, audible wheeze
Hair: alopecia, seborrhoea of the scalp Shape: Normal, zpectus carinatum (undue prominence of
Eyes: subconjunctival haemorrhage, ptosis, proptosis, the sternum-pigeon chest, pectus excavatum (funnel chest),
squint, nystagmus, cataract, aniridia, optic fundi Harrisons sulci, hyperinflation (increased anteroposterior
Mouth: thrush, fauces, tonsils, teeth, palate diameter)
Ears: normal, low-set, shape, pre-auricular skin tags Count the respiratory rate
Anterior fontanelle: diamond shaped, open, closed, Scars of past surgery (look at the front and the back of the
sunken, bulging, tense chest).
14 Hutchison's Paediatrics
Forms simple sentences Picks up very small objects and threads beads
Carry out simple instructions. Knows four primary colours.
C H A P T E R
Growth and Development 2
NORMAL GROWTH any single intervention. Nutritional deprivation during
pregnancy can have an epigenetic effect on foetal growth
Human growth is determined by an interaction of genetic extending over many generations. Studies from Netherlands
and environmental factors. The infancy-childhood-puberty have shown that maternal smoking and cannabis use in
(ICP) growth model breaks down the human linear pregnancy results in significant foetal growth retardation,
growth curve into three additive and partly superimposed which is progressive through gestation. Cytokines are
components (Fig. 2.1). There are different growth essential for implantation and insulin-like growth factor
promotion systems for each component. The infancy phase 2 (IGF-2) is important for placental growth. Apart from
describes the period of rapid growth in utero and in infancy nutrition, hormones and growth factors have an important
and this phase of growth is predominantly nutritionally role in the control of foetal growth. Foetal insulin secretion
dependent. Maternal nutrition before and during pregnancy is dependent on the placental nutrition supply and foetal
are important determinants of foetal growth and low hyperinsulinaemia, which stimulates cell proliferation and
pre-pregnancy weight increases the risk of intrauterine foetal fat accumulation from 28 weeks gestation onwards.
growth retardation (OR 2.55). An additional intake of 300 Thyroid hormone, which affects cell differentiation and
Kcal and 15 g of protein per day are recommended for brain development, is also regulated by nutrition. Cortisol
pregnant mothers above the recommended intake for non- is essential for the pre-partum maturation of different
pregnant women. Nutrient supply to the growing foetus is organs including the liver, lung, gut and pituitary gland.
the dominant determinant in foetal growth, which is also Although growth hormone (GH) is important in post-natal
dependent in placental function. Multiple approaches of growth, it plays an insignificant role in foetal growth except
nutritional intervention, control of infection and improved for an effect on foetal fat content. Animal knockout studies
antenatal care to pregnant women are more effective than and human observations have shown that IGFs are most
important for metabolic, mitogenic and differentiative
activities of the foetus. Insulin-like growth factor-2 is more
important in early embryogenesis. In humans, foetal body
weight is more closely correlated with the concentration of
foetal serum IGF 1 than IGF 2.
In the childhood phase of growth, hormones like growth
hormone, thyroid hormone and growth factors like IGF
begin to exert their influence from the end of the first year of
life. A delay in the onset of the childhood phase of growth
results in faltering of growth during this critical period.
The growth faltering commonly observed between 6 and 18
months of life in children from developing countries are due
to nutritional and socioeconomic factors rather than ethnic
differences. The importance of the growth hormone and
Fig. 2.1: Analysis of linear growth using a mathematical model IGF 1 axis and other hormones in the childhood phase of
(Courtesy: J Karlberg, et al. Acta Paediatrica Scand. 1987;76:478) growth is described in a subsequent section of this chapter.
Growth and Development 19
Short-lived growth acceleration between 7 and 8 years of age in Asia in 2005. With the improvement in socioeconomic
can be observed in two-thirds of healthy children followed conditions and healthcare in most countries, there is a
by a fall in growth velocity before the onset of puberty. The dramatic secular increase in mean stature of populations
pubertal phase of growth is controlled by nutrition, health, from Asia and other developing countries, while the positive
GH-IGF 1 axis and pubertal secretion of adrenal androgens secular trends in growth have slowed or even plateaued in
and sex steroids. The onset of the childhood component has developed countries in Europe and North America.
been known to be positively associated with the magnitude Although, malnutrition remains a problem in some parts
of the foetal or infancy component. The height at onset of of the world, there is now a worldwide obesity epidemic
puberty is an important determinant of the final adult height. in both developing and developed countries. The reason for
The onset of puberty component is negatively correlated with the increase in body weight in children in the community
the height at onset of puberty. is multifactorial including genetic, cultural differences and
The United Nations Childrens Fund (UNICEF) has dietary changes especially increase in intake of high fat
identified access to nutritionally adequate diet, health care energy dense foods, but most importantly the increasing
for mothers and children, and environmental health factors sedentary lifestyle adopted by different sectors of the
as conditioning factors of child growth worldwide. The population. The decrease in daily physical activity is due to
care required includes care of women in the reproductive mechanisation and computerisation. Time spent in watching
age, breastfeeding and feeding practices, psychological television and playing or working on the computer is now
care, food preparation, hygiene and home health practices. regarded as a surrogate marker of inactivity in children.
Low food intake and the burden of common childhood The health burden of excessive weight gain in childhood
infectious diseases, diarrhoea, respiratory infections and will be amplified in the years to come and urgent action by
infestations limit the full realisation of the genetic potential international organisations, governments and all national and
in children from developing countries. As more and more region stake-holders is needed.
women join the workforce, their duration of time spent in
child care and income generation determines whether child
care is compromised. Quality child care is not affordable or
ASSESSMENT AND MONITORING OF GROWTH
accessible to low-income working mothers. Environmental A clinician should take the opportunity to assess the growth of
pollution (air, heavy metals and smoking) can affect the each child at each clinical encounter. The head circumference
growth of children especially those living in developing should be measured as the biggest circumference between
countries undergoing rapid economic transition. The negative the frontal region and the occipital prominence using a non-
effects of active and passive smoking in mothers on foetal stretchable measuring tape. The body weight should be
growth and growth in early life have been well characterised.
measured with a calibrated electronic scale, without shoes
Environmental exposure to lead in children has been linked
or socks and the child wearing light clothing. In infants and
to impaired physical growth, neurodevelopment and delayed
puberty. Mercury poisoning from industrial pollution and young children, the supine length should be measured with
teething powder and drugs are less common. There are an infant stadiometer (Fig. 2.2). Children older than 2 years
claims of association of increased mercury exposure with of age should be measured standing using a wall-mounted
neurodevelopment deficits. No significant association of stadiometer (Fig. 2.3) without shoes or socks, with the eyes
prenatal and postnatal exposure to methylmercury from and external auditory meatus held in the same plane, and a
fish consumption with childhood neurodevelopment has slight upward pressure exerted on the jaw and occiput. The
been found in populations with high fish consumption. A anthropometric measurements should be plotted accurately
negative association between environmental sulphur dioxide, on the appropriate chart.
total suspended particulates and exposure to herbicide, and Monitor of growth in children and adolescents has been
birth weight has been consistently reported in the literature. widely used by paediatricians as a marker of their general
Impaired growth in infancy and childhood is associated with well-being. The normal pattern of growth in children is
short adult stature and impaired cognitive development. The traditionally described in an up-to-date ethnic specific
World Health Organisation (WHO) global database on child
growth and malnutrition provides information on growth
and nutrition worldwide (www.who.intnutgrowthdb) based
on the National Centre for Health Statistic (NCHS)/WHO
international growth reference. The prevalence of wasting
in preschool children in Cambodia, Indonesia, Indian
subcontinent, some island states in the Indian Ocean and some
countries in Africa, and Middle East has remained above
10%. According to WHO, 110 million stunted children live Fig. 2.2: Stadiometer for measurement of supine length
20 Hutchison's Paediatrics
identifying these problems in the clinical and public health of serum IGF 1 to two to three times of the adult serum
setting. The WHO has adopted the updated BMI reference concentrations as the children progress through puberty.
based on the United States NHANES I data collected in 1971 The serum IGF 1 level in childhood is also dependent on
1974 (www.cdc.gov/growth charts), while IOTF has adopted nutrients availability. It has now been shown that the local
an international BMI reference derived from six population generation of IGF 1 in tissues in response to GH rather than
growth studies (Cole TJ et al. BMJ. 2000;320:1270) as the circulating IGF 1 is essential for normal growth; liver-
the gold standard for international comparison. The WHO specific IGF 1 knockout mice have low circulating IGF 1
proposed a BMI below the 5th percentile, above 85th levels and yet they have near normal growth. Short stature
percentile and 95th percentile as cut-offs for underweight, has been reported in humans with mutations in the genes of
overweight and obesity respectively. The IOTF established GHRH, GH, GH receptor, STAT5b, IGF 1, ALS and IGF
BMI percentile cut-offs at different ages based on extrapolation 1 receptor.
of adult BMI cut-offs of 25 kg/m2 and 30 kg/m2 for overweight
and obesity. In addition, national BMI references are now GENETICS OF STATURE
available in many developed countries. The cut-offs based
on the United States reference data are related to some Fisher RA proposed in 1918 that many genetic factors, each
measures of morbidity, but the newly developed IOTF BMI having a small effect, explain the heritability of height.
cut-off points for children still require validation with data on This is still true in the genome era. From five genome wide
morbidity measures like blood pressure, serum lipids, insulin association studies using single nucleotide polymorphisms
resistance and diabetes. In a meeting organised by WHO or analysis, investigators have identified over 50 chromosome
International Association for the Study of Obesity (IASO)/ locations (implicating nearby genes), which appear to be
IOTF in Hong Kong in 1999, the experts were of the opinion partially responsible for the regulation of adult stature in
that a lower BMI cut-offs might need to be set for adult humans. Collectively, these genes account for about 4% of
Asian populations because of their predisposition to deposit adult stature. One gene LIN28B on chromosome 6q21 which
abdominal fat. The proposed revised BMI cut-off is 23 kg/m2 is shown to be important in the determination of stature
and 25 kg/m2 for overweight and obesity respectively (www. is also found to be associated with the age at menarche.
idi.org.au). Heterozygous carriers of mutations of natriuretic peptide
receptor B (NPR2) have a mean height of 1.1 0.8 SD and
THE GROWTH HORMONE: IGF 1 AXIS the carrier frequency is 1 in 5700 and some short children
may be NPR2 mutation carriers. Heterozygous insulin-like
The pulsatile secretion of growth hormone from the pituitary growth factor acid labile subunit gene (IGFAL S) mutation
gland is under the control of the stimulatory action of growth
carriers have 0.9 1.51 SDS loss in height compared with
hormone releasing hormone (GHRH) and the suppressive
the normal population. It is possible that carriers of some
effect of somatostatin. Multiple neurotransmitters and
of these single gene defects can be the cause of some short
neuropeptides are involved in the hypothalamic release of these
children in the population. It is likely that more and more
hormones. Growth hormone is essential for normal human
height determining genes will be described in future.
growth in childhood and adolescence. The liver is the organ
with the highest GH receptor concentrations and is the main
PUBERTY
source of GH binding protein (cleaved extracellular portion of
the GH receptor) found in the circulation. After binding to its Puberty is defined as the maturational transition of an
receptor and inducing dimerisation, GH activates the JAK2/ individual from the sexually immature state to adulthood
STAT pathway to bring about the stimulation of epiphyseal with the capacity to reproduce. The hypothalamic-pituitary-
growth, osteoclast differentiation, lipolysis and amino acid gonadal axis is active in utero and at birth. After this period
uptake into muscles. The more important growth promotion of activation, the axis undergoes a long period of relative
action of GH is mediated by IGF 1. Circulating IGF 1 comes quiescence from 3 to 6 months after birth until late childhood
predominantly from the liver and is associated with IGF when pubertal development occurs. The onset of puberty is
binding protein 3 (IGFBP 3) and the acid labile submit (ALS) the result of decreasing sensitivity of the regulatory system
to form a ternary complex. The action of IGF 1 is modified of gonadotropin secretion (gonadostat) in the hypothalamus
by six binding proteins in the circulation. Although IGF 1 is to the negative feedback of the small amounts of gonadal
important in foetal growth, serum concentration of IGF 1 is steroids secreted by the pre-pubertal gonads, as well as a
low in foetal life and in early infancy. A significant rise in IGF decrease in the central neural inhibition of gonadotrophin
1 and IGFBP 3 concentrations is observed in normal children releasing hormone (GnRH) release. Disruption of genes
from 10 months onwards. There is further progressive rise controlling the migration of GnRH neurons from the olfactory
22 Hutchison's Paediatrics
epithelium to the forebrain can result in delayed puberty. to develop and the Leydig cells to produce testosterone.
The initiation of puberty is associated with a decrease in Testosterone production increases progressively and is
trans-synaptic inhibition by GABAergic neurons and an responsible for the metabolic changes and the development
activation of excitatory glutamatergic neurotransmission of secondary sexual characteristics. Both LH and FSH are
in the control of GnRH secretion. There is also evidence required for the development and maintenance of testicular
that glial to neuron signalling through growth factors function. In early puberty in girls, circulating FSH level
is important in the neuroendocrine control of puberty. increases disproportionately to the LH level in response
Evidence for genetic regulation of the timing of puberty is to GnRH stimulation. Gonadotropin stimulation leads
suggested by the correlation of the age of onset of puberty to a rapid rise in ovarian oestrogen production before
in mother and their offsprings and also in twin studies. It menarche. When the concentration of oestradiol rises
has been suggested that 5080% of the variance in pubertal above 200 pg/ml for a few days, the negative feedback on
onset may be genetically controlled. Kisspeptin, which is GnRH and gonadotropin release turns to positive feedback
encoded by the KISS 1 gene on chromosome 1q31, is cloned leading to the ovulatory LH surge. In humans, the ability
as a tumour metastasis suppressor gene. Kisspeptin-G of the hypothalamus to stimulate gonadotropin secretion in
protein coupled receptor 54 (GPR54) signalling complex response to positive feedback effects of oestrogen does not
is important in the control of puberty. Inactivating GPR 54 occur until after menarche. In adult females, the GnRH
mutations lead to hypogonadotropic hypogonadism and an pulse frequency starts at 90 minutes in early follicular
activating mutation of GPR54 has been described in a girl phase, increases to one pulse every 60 minutes in mid-
with slowly progressive precocious puberty. Genomewide follicular phase and slows to one pulse every 46 hours in
association studies (GWAS) and age at menarche (AAM) the lateral phase.
identified a significant association of LIN28B and AAM. From the age of 68 years onwards, there is a progressive
A meta-analysis of 32 GWAS identified 30 loci associated rise in adrenal androgens secretion up to 20 years of age.
with AAM and these genetic loci explained 3.66.1% of This process of maturation of the adrenal gland, referred
the variance in the AAM, equivalent to 7.212.2% of its to as adrenarche, is responsible for pubic and axillary
heritability. hair development and this event occurs independent of the
Light dark rhythm and climatic conditions have little effect maturation of the hypothalamic-pituitary-gonadal axis,
on the AAM. Children adopted from developing countries to although the timing of the two processes are usually related
live in a developed country have early puberty as a general in normal puberty. Adrenarche is coincident with the mid-
rule. Exposure to endocrine-disrupting chemicals can childhood adiposity rebound and there is evidence that
affect timing of puberty and, for example, isomers of DDT nutritional status measured as a change in the body mass
have oestrogen agonistic and androgen antagonistic effect. index (BMI) is an important physiological regulator of
Mycoestrogenic zearalenone was reported to be elevated in adrenarche.
35% of girls with central precocious puberty in a study from The progressive changes in the secondary sexual
Italy. Zearalenone is a nonsteroidal mycotoxin produced characteristics have been described in a standardised format
by Fusarium species on grains and causes contamination of by Tanner (Figs 2.4 and 2.5). There is considerable variation
grains and animal feeds. Brominated flame retardant and in the age of onset and the tempo of progression of puberty
dichlorodiphenyl-dichloroethylene (DDE) have been found to among normal children. Over the last century, children have
have an association with earlier puberty in girls. The timing tended to be taller in stature and reach sexual maturity at
of puberty is also influenced by nutrition and metabolic cues. an earlier age. In a recent population study from the United
A direct relationship between a particular ratio of fat to lean States, 5% and 15% of the white and African American girls
body mass and onset of puberty has been described. Leptin had breast development before the age of 7 years. Since
plays a role in informing the brain of peripheral energy stores the mean age of menarche in these American girls have not
and body composition and may act as a permissive signal for changed significantly over time, puberty in American girls is
the onset of puberty. associated with earlier onset of breast development, but with
With the onset of puberty, there is increasing pulsatile a slower tempo of pubertal progression. An age of onset of
secretion of luteinising hormone (LH) and to a lesser puberty before the age of 9 years in boys and before 7 years
extent follicle-stimulating hormone (FSH), mainly at night in girls is regarded as premature. Girls and boy without signs
through gradual amplification of GnRH pulse frequency of puberty by the age of 13 years and 14 years should be
and amplitude. In pubertal boys and girls, sleep-entrained monitored carefully and considered for evaluation of delayed
pulsatile GnRH secreted every 6090 minutes progressing puberty. The mean age of onset on menarche can vary from
to become more regular throughout the day. In boys, 11.2 years in African Americans, 11.27 years in China and
the pulsatile gonadotropin secretion stimulates the testes 13.4 years in Denmark.
Growth and Development 23
Fig. 2.4: Standards for breast development (From Tanner, 1969) Fig. 2.5: Standards for pubic hair ratings in boys and girls
(Courtesy: Endocrine and Genetic Diseases of Childhood and Adoles- (From Tanner, 1969)
cence by Gardner, Lytt.I. WB Saunders Company. 1975) (Courtesy: Endocrine and Genetic Diseases of Childhood and
Adolescence by Gardner, Lytt.I. WB Saunders Company. 1975)
of age. At 3 months, they respond to the call of their names, close approximation to the syntactic structure characteristic
smile and laugh or are comfortable in response to the sound of adult speech. After the age of 6 years, children are able
of the mothers voice. Babies can make consonant sounds to engage in a long conversation with family members and
at 3 months of age (e.g. ba, ka and da) and deaf infants are their peers. They can perform simple tasks in command. At
usually referred to as quiet babies at this stage. Babbling in 7 years of age, children are able to express their thoughts in
strings usually occur after 6 months of age. At 12 months of speech and writing.
age, the baby understands some simple commands and uses As the number of children raised in bilingual or
increasing variety of intonation when babbling. At one year multilingual families increases, paediatricians should
of age, an infant understands simple commands like blow a have some knowledge of the normal patterns of bilingual
kiss or wave bye-bye. They are able to say a few words language acquisition. A child may acquire two languages
with meaning and have at least 6 recognisable words with simultaneously with an initial undifferentiated simple
meaning by 18 months. At 18 months of age, they can name language composed of elements from both languages. By 23
body parts on request and start to use word combinations. By years of age, the child begins to be able to differentiate the
2 years of age, children have a vocabulary of many words and two languages. The child can use the appropriate language
can speak in simple sentences. A 9-month-old child can look when speaking to a particular person or in a particular
for an object after being hidden, demonstrating their grasp of environment (e.g. home or school). Normal children in
the concept of object permanence. Before the development of bilingual families can also acquire the two languages in a
expressive speech, infants of one year age can indicate their sequential manner. In this situation, the first or dominant
desire by pointing or gesture. They demonstrate definition language is acquired first in the usual manner and then the
by use of common objects like cup, brush, comb and spoon. children develop an understanding of the second language
Symbolisation occurs at 18 months with the child imitating drawing on the experience with the first language. There may
the mothers household chore or feeding a doll. Between 18 be a period of selective mutism before the child can switch
months and 22 months, children can engage in constructive from one language to the other proficiently. Bilingualism
symbolic play with toys of miniature. may contribute to delay in language development, but is not
Both expressive and receptive language involves three a cause of disorder of language or cognitive development.
important aspects, namely, phonology and articulation, Parents should be consistent in setting the boundaries for
semantics and syntax. The coordinated neuromuscular where each language is spoken.
mechanisms, which produce the desire sequence of phonemes,
constitute expressive phonology. The neurological process SOCIAL DEVELOPMENT
involved in the identification of the phonemes in a spoken
message is referred to a receptive phonology. Semantics By 4 weeks of age, babies show social smile in response to
refers to the process involved in relating a spoken word to the caregiver and enjoyment to cuddling, bathing and the
its meaning. In most cases, a thought cannot be expressed voice of the mother. At 6 months of age, a baby is able to
simply by a single word. In constructing a spoken message, finger feed and is more wary of strangers. A child can drink
syntax governs the particular order of words as they appear from a cup with help and enjoy songs and nursery rhymes
sequentially in speech. Syntax also governs the use of tense, at 9 months of age. They also desire a comfort object (like a
plurality, grammar and the relationship between the different soft toy, cloth or blanket) and become anxious when they are
words. Syntactic process works in conjunction with the separated from their caregivers (separation anxiety). Babies
semantic process in deriving the meaning conveyed by a can play pat-a-cake or wave bye-bye and show affection to
sequence of words. The use of two to three word combinations family members towards the end of the first year. At 18
in young children involves the omission of function words, months, they can feed themselves with a spoon and they can
which are used in the more complex adult speech. The feed themselves properly using knife and fork at 4 years. The
simple word combinations also reflect the reduced memory age of achievement of bladder and bowel control is variable,
capacity of young children. By 3 years of age, a child can use but is usually towards the end of the 2nd year of life, but
plurals, pronouns and prepositions (e.g. under, behind, in bedwetting at night can persist into mid or late childhood.
front of) in their speech. Most young children are disfluent, Beyond 2 years of age, children are increasing mobile and
but a child should be wholly intelligible and have few are curious and interested in exploring their environment.
infantile substitutions or consonant substitutions at the age of They can help with dressing and bathing. They can manage
4 years. As children become older and with experience, they to use the toilet independently by age of three years. At
incorporate new rules and expand rules already acquired, the age of 4 years, they can groom and dress themselves
in such a fashion that their speech becomes progressively a and brush their teeth. At age of 18 months, children are
26 Hutchison's Paediatrics
contented to play by themselves; at 2 years of age they still is acquired during the school hours. Adolescence is the
play alone or alongside other children (parallel play). At 3 period of transition from childhood to mature adulthood
years of age, they start playing with other children and start with physical maturation and acquisition of reproductive
making friends. They share toys and develop the concept of capability and socioeconomic and independence from
being helpful to others. the family. With the increasing number of young people
entering into tertiary education, this period of adolescent
EMOTIONAL AND COGNITIVE DEVELOPMENT development has been lengthened in the developed world.
Adolescents become increasingly competent in logical and
Soon after birth, a baby demonstrates a keen interest
scientific reasoning and these abilities are reflected in their
in human faces and voices. They also become aware
ability to analyse and solve problems in mathematics and
of other sensations like hunger and noxious stimuli and
science and formulate arguments and opinions in different
respond to unpleasant sensations by crying. Even at one
fields of study. They are able to think in abstract terms
month, a baby exhibits different dimensions of behaviour
and develop an understanding of issues like responsibility,
like activity, placidity, irritability, excitability and anger
morality, peer relationships and sexuality.
regulation that is commonly referred to as temperament.
Infants with different temperament are at increased risk
DEVELOPMENT ASSESSMENT
of behavioural problems in later life. The bonding of a
baby with the parents depends on the babys temperament A comprehensive child health assessment would not
and the personality, sensitivity and caring nature of the be complete without a proper developmental history,
parents. At 6 months of age, a baby already becomes examination and assessment of emotion and mental well-being
aware of the emotional state of the parents or caregiver of the child. To obtain a developmental history of children
through their actions and their voices. Secure attachment ask the parents open-ended questions and to elaborate on
relationship between infant and mother, and to a certain developmental concerns, if any, and provide them examples
extent, with fathers and caregivers is established towards of their concerns. A paediatrician should be able to identify
the end of the first year of life. Secure mother-infant developmental red flags (Table 2.1), developmental delay,
bonding buffers a baby against the short-term influence of disordered developmental sequence and developmental
adverse psychosocial effects in childhood development. By sequence, and developmental regression. Observations and
one year of age, infants start to develop their own sense of interactive assessment in different developmental domains
identity. They have fluctuating moods, occasionally throw (gross motor, fine motor, visuospatial coordination, language
temper tantrums, but also show affection towards familiar and speech, emotion and social behaviour, cognition, hearing
people. In the next 23 years, young children become and vision) should be carried out. After assessment, a profile of
increasingly aware of other peoples intension desires and developmental abilities and difficulties should form the basis
emotions. They begin to show empathy (comfort a crying for the necessity of referral for multidisciplinary specialist
baby). They are inquisitive and constantly ask questions.
assessments by developmental paediatrician, psychologist,
They recognise primary colours (30 months) and begin to
speech, physiological and occupational therapists.
grasp the concept of numbers and time. They play and
communicate with other children. They have increased
Table 2.1: Developmental red flags in infancy and early childhood
memory capacity, and reasoning and problem solving
skills. They can remember and give an account of past No visual following by 8 weeks and poor eye contact
events. Children learn by observing and experiencing Uncoordinated eye movements with head turning after 3 months
repeated stimuli and social situations, imitating, and Persistent fisting (especially with thumbs adducted across the
experimenting with speech and actions. They apply a set palms beyond 3 months)
of concrete rules for exploring and interacting with the No head control by 6 months
outside world. Their ability to appreciate logical arguments Not sitting independently by 10 months
improves with age. They become aware of their body Unable to walk alone at 18 months
image and develop self-esteem. Their self-concept becomes No pointing to show demand or interest by 14 months
differentiated and they begin to realise that they are not No words with meaning by 18 months
always competent in different developmental domains. Not joining two words by 30 months
During middle childhood, children further develop their Features of pervasive developmental disorders (compulsive and
fundamental skills of reading, writing, mathematics, long- ritualistic activities, severe language delay, poorly developed
term memory and recall. They are able to comprehend social relationship, abnormal attachment to inanimate objects,
complex instructions. Significant amount of learning inappropriate affect and tantrums, developmental delay)
Growth and Development 27
Intelligence tests have been used to assess the innate assessment using specialised test instruments for memory,
cognitive ability, and to indicate deficiencies of different visuospatial skills, language, attention, motor skills, social
domains of development in a child who is struggling and cognitive and planning and execution of tasks.
under achieving in school. The Wechsler Intelligence Scale In recent years, there is increasing demand for
for Children (WISC III and IV) is one of the most widely used paediatricians to develop skills in dealing with children
intelligence quotient (IQ) tests and has been translated into with behavioural and emotional disorders. Measurements
many languages and validated. Some Wechsler subtests do not of behavioural and emotional well-being and adjustment
require skills in English and may be used to address referrals in children and their family members can be achieved
of non-English speaking children for certain developmental using the child behaviour check list (CBCL) for parents,
problems. The tests provide four index scores reflecting verbal teachers and older children. Paediatricians should be aware
comprehension, perceptual reasoning, working memory and of common presentations of such disorders and have some
processing speed. An IQ test is the first step towards the knowledge of neuropsychological test instruments for the
assessment of specific learning disabilities and the provision assessment of childhood depression, anxiety, obsessive-
of support and intervention for children with difficulties in compulsive, attention deficit hyperactivity disorders and
schools. A high IQ score, however, does not guarantee future eating disorders and conduct disorders. These conditions
success in life. Children with an uneven developmental profile have been discussed in greater details under the different
on IQ testing requires further specialist neuropsychological chapters of this book.
Samuel E Ibhanesebhor, Chikkanayakanahali Manjunatha,
C H A P T E R
Syed Rehan Ali, Zulfiqar Ahmed Bhutta
Neonatal Paediatrics 3
INTRODUCTION baby. They should introduce themselves to parents and
explain the reason for their attendance at delivery.
Neonatal medicine has made great progress in the last few Animal studies have demonstrated that at the onset of
decades with increased survival of preterm babies, and is now acute hypoxia, babys breathing becomes rapid and deep
focusing its effort to improve the quality of the survivors. and heart rate and blood pressure increases. If the insult
Administration of antenatal steroids to mother with threatened continues, baby will enter into primary apnoea, with an
labour below 34 weeks of gestation, surfactant administration, immediate drop in heart rate probably vagally mediated. If
availability of trained personnel, and improved temperature the insult continues, gasping respiration at a rate of 12 per
control at birth, benchmarking, sharing of good practice has minute mediated by spinal centres results, and the heart rate
changed the face of neonatology. Babies are born in better will continue to fall and the baby becomes pale. If the acute
condition and survival has improved significantly. insult is not halted, the baby will enter into terminal apnoea
However, there remains a lot to be done to make this care with further fall in heart rate, with the heart rate eventually
universally available. Neonatal mortality (death during first stopping. During this process, there will be change in
4 weeks of life) still remains high in low and middle income blood pressure, carbon dioxide and oxygen levels. The
countries and there is a need for effective strategies to address measurements of these are not available in labour room acute
this. Majority of these deaths could be prevented by simple emergencies. Fortunately, they are not needed for decision-
measures like improved care at delivery, early treatment of making in neonatal resuscitation. Doctors need to assess only
sepsis in newborn babies, administration of tetanus toxoid to respiratory effort, heart rate, tone and colour of the baby
mother, and the promotion of breastfeeding. Also important to assess the need for resuscitation and this is reassessed at
30 seconds interval to check the response to resuscitation.
is to educate the parents about hygiene, maintaining adequate
The colour of the baby is only really important, if the
temperature and when to seek medical attention. This chapter
baby is pale after delivery.
is intended to give a general overview of common neonatal
If the baby is born apnoeic, it is difficult to tell whether
conditions and its management. it is primary or secondary apnoea, however, irrespective
NEONATAL RESUSCITATION of which, the resuscitation sequence is the same and
effective. It is important to document babys condition at
Although the vast majority of babies do not need any help at birth, presence or absence of gasp and the response of the
birth, some do. Although there may be warning signs, some baby to the resuscitation measures. Although Apgar score is
babies are born unexpectedly in poor condition. It is therefore widely used, it is not very useful in the immediate decision
important that all personnel involved in the delivery and for resuscitation. Moreover, certain factors like prematurity,
management of the newborn baby are well versed in basic maternal sedation and general anaesthesia may affect the
resuscitation. A person trained in advanced resuscitation scoring. Traditionally, Apgar score is recorded at 1, 5 minutes
should be readily available. If the delivery of a compromised and subsequently at 5 minutes interval. If it is obvious that
baby is anticipated, a team of experienced clinicians should the Apgar score is low secondary to maternal sedation or
get to the delivery suite in advance and check the equipment general anaesthesia, it should be clearly documented.
is in working order. Discussion should take place with the Babies are born wet from warm intrauterine environment
obstetrics team to obtain the necessary antenatal information to relatively cold dry environment geared towards the
like presence of foetal distress and likely gestation of the mother. Therefore, babies can lose heat very quickly. The
Neonatal Paediatrics 29
babies who are cold have increased oxygen requirement and adults, where cardiac compression is aimed at maintaining
are difficult to resuscitate. They are more likely to develop blood supply to brain. Newborns heart is healthy and
metabolic acidosis and respiratory distress from surfactant any bradycardia or asystole is usually due to a respiratory
deficiency. They lose heat through conduction, convection, problem or absent heart sounds is secondary to respiratory
radiation and evaporation. To minimise the heat loss to failure. This is the reason why there is no point in starting
place the baby on warm surface (reduce heat loss through chest compressions unless chest expansion is achieved.
conduction), keep the windows and doors closed (to prevent The heart rate and chest compression should be
heat loss through convection), keep the surroundings as alternated at the ratio of 3:1. Although recommended chest
warm as possible (to prevent heat loss through radiation) and compression is 120 per minute and respiratory rate is 40 per
dry the baby, remove the wet towel and cover with warm minute, it is difficult to achieve these rates under emergency
towel (mainly to reduce heat loss through evaporation). Most situation even by those experienced in resuscitation. It is the
babies start breathing spontaneously and do not need any quality of the resuscitation, which is more important than the
further intervention. There is no need to routinely suction the number. Therefore a lower rate may be acceptable provided
nose or oropharynx of these babies, they should be wrapped it is effective. Reassess the baby after 30 seconds of each
in warm towel and given to the mother. intervention as the babies usually respond within 20 seconds.
If the baby is not making any spontaneous respiratory Some babies may not respond to the above measures and
effort or has poor colour, dry and cover the baby and covering need medications, but it is very rare. It is important that secure
in warm towel, position the head in a neutral position. Assess airway is establishedsometimes by intubation, ensuring
the colour, tone, respiratory effort and heart rate. If the baby chest movements and effective cardiac compressions.
is not making any respiratory effort or heart rate is low or Only a small number of drugs are used in neonatal
absent, give five inflation breaths. The inflation breaths are resuscitationadrenaline, 4.2% sodium bicarbonate and
at 20 cm water pressure, each lasting for 23 seconds to 10% dextrose. The resuscitation should continue and access
open the lungs and displace the lung fluids. It is important should be obtained. It is easier to obtain central venous
that an appropriate sized mask is used. The initial one or access in neonatal period through the umbilical vein.
two breaths may not show chest movements. With successful Adrenaline in the dose of 10 micrograms per kilogram
air entry into the lungs the babys heart rate will improve (0.1 ml/kg of 1:10,000) should be administered followed
first then the colour. If subsequent breaths do not produce by normal saline flush. If venous access is not available,
chest movements, check the babys neck position, reassess higher dose of 100 micrograms per kg may be given through
the technique, mask size and seek for help early rather endotracheal tube. Continue cardiopulmonary resuscitation
than late. There is no point in doing chest compressions, if and reassess after 30 seconds, if the baby does not show
effective breaths are not given. If the problem persists and any response, administer sodium bicarbonate 4.2% (2 ml/
doctors are not able to get chest movements, consider two kg) followed by adrenaline 30 micrograms per kg (0.3 ml/
person techniqueone person holding the mask with jaw kg of 1:10,000). The administration of sodium bicarbonate
thrust and another giving the inflation breaths or the use of an is to correct the acidosis in the myocardium allowing for its
appropriately sized guedel airway. Only after getting good responds to adrenaline. It may also be useful to give 10%
chest movement, chest compression be considered. dextrose 2.5 ml/kg through umbilical venous line to correct
After inflation breath, reassess the baby. If baby is any hypoglycaemia.
making good respiratory effort, has good colour and heart If volume loss has occurred from maternal haemorrhage,
rate is above 100, wrap the baby in warm towel and give him normal saline bolus 10 ml/kg or uncross-matched O rhesus,
or her to mom. If the babys colour and heart rate is good negative blood may need to be infused. Sometimes, in spite
but not making good respiratory effort, continue ventilation of all efforts, the baby may not survive. Generally, if after
breath at the rate of 40 per minute. Ventilation breath effective resuscitation of 10 minutes, there is no response,
should be long enough to produce chest movements. The resuscitation may discontinued. The decision to discontinue
poor respiratory effort may be related to maternal sedation, the resuscitation measures should be taken by the most senior
opiate administration or general anaesthesia for caesarean clinician available. It is helpful to have cord blood gas during
section. resuscitation.
If in spite of good chest movements with inflation breath, If a baby has had prolonged or significant resuscitation
heart rate and colour does not improve; consider chest or the sequence of resuscitation requirements and presents
compression if heart rate is less than 60 per minute. The with gasps agonal respiration they should be admitted to
purpose of chest compression is to achieve oxygenation of the neonatal unit for close observation. They are at high-
the heart through the supply of oxygenated blood to the risk of developing hypoxic ischaemic encephalopathy and
coronary arteries to perfuse the heart. This is in contrast to seizures.
30 Hutchison's Paediatrics
The baby should be started on antibiotics if infection is Depending on the severity, clinical manifestations will differ.
suspected. Renal and hepatic functions should be monitored It may be mild (Sarnat stage 1), moderate (Sarnat stage 2) or
closely. As they are at risk of renal impairment and syndrome severe (Sarnat stage 3). In Sarnat stage 1, the baby is usually
of inappropriate secretion of ADH, fluids may need to be hyper-alert with predominant sympathetic activity. In Sarnat
restricted. Blood glucose, hypocalcaemia, hypomagnesaemia stage 2, the baby develops seizures, and may be hypotonic
and hyponatraemia should be corrected as appropriate. with parasympathetic over-activity. In sarnat stage 3, baby
If the baby develops seizures, they should be treated with is in a very poor condition and often comatose. It is very
anticonvulsants like phenobarbitone, phenytoin, lorazepam. important to document the neurological status at the time of
Elevated temperature should be avoided. admission and regularly thereafter.
Some babies may qualify for total body cooling therapy These babies are at risk of seizures, renal failure, hepatic
to improve survival and neurodevelopmental outcome. Every dysfunction and syndrome of inappropriate secretion of
baby who needs resuscitation should be carefully assessed to ADH. Fluid should be restricted to 4060 ml/kg per day and
see whether they meet the criteria for total body cooling. blood glucose should be maintained. Hyperthermia should
Most importantly clear documentation of the sequence be avoided. If facilities are available, cerebral function
of events at resuscitation cannot be overemphasised. Parents monitoring should be done to assess the severity of cerebral
should be updated and counselled regarding the prognosis dysfunction.
particularly for long-term outcome. The baby should be examined to document the
Unsuccessful resuscitation can be very stressful to the neurological findings and suitability for therapeutic cooling
team and therefore de-briefing at a later date to go over the (total body cooling). The need for continued resuscitation at
resuscitation to learn and improve. Date is a very useful 10 minutes of age, Apgar score of less than 5 at 10 minutes,
exercise. cord base deficit of 16 or more and abnormal cerebral
function recording are some indications for therapeutic
HYPOXIC ISCHAEMIC ENCEPHALOPATHY cooling. Cranial ultrasound scan may give more information
like any intracranial bleed and abnormal cerebral resistance
Most babies require little or no help at birth and will go on
index.
to have a normal transition into the neonatal period. A small Baby should be started on antibiotics if infection is
percentage of those who receive significant resuscitation suspectedbearing in mind that a baby who is infected
develop hypoxic ischaemic encephalopathy. There are many might not have been able to cope with the stress of labour
predisposing factors, including postmaturity, cord prolapse thus developing the hypoxic ischaemic encephalopathy.
and maternal conditions like abruption placenta, antepartum Any electrolyte abnormality including hypocalcaemia and
haemorrhage, uterine rupture, etc. As discussed in the hypomagnesaemia should be corrected. If the baby is
previous section, a baby who is acutely asphyxiated will go significantly affected, feeds are generally withheld for 2448
through a period of primary apnoea into terminal apnoea, hours and started only if baby is stable and making progress.
if the hypoxic insult is not terminated early. The antenatal This is to prevent the risk of necrotising enterocolitis (NEC)
cardiotocograph (CTG) recording during labour may give in a gut that has experienced decreased blood flow.
valuable information prompting early intervention. The These babies should have a magnetic resonance imaging
abnormalities include foetal bradycardia, tachycardia and (MRI) scan of the brain and an electroencephalography
decreased variability. In these situations, the foetal scalp pH (EEG) usually during the 2nd week of life. MRI scan may
helps in decision-making. If time permits the neonatal team show abnormality in the basal ganglia, highlighting of the
should be present during the delivery ensuring adequate help posterior limb of the internal capsule and also cerebral
and preparation. cortex.
In the face of acute asphyxia, nature initiates the dive They should be followed up in the neurodevelopmental
reflex this diverts blood away from nonessential organs to the clinic. They benefit from multidisciplinary input from
brain, heart and adrenal glands. This is called the dive reflex. speech and language therapist, physiotherapist, occupational
If the insult continues, the brain will ultimately be affected. therapist, ophthalmologist and community paediatrician.
Some babies may not show any dive reflex and develop an Parents should be kept informed throughout the neonatal
encephalopathy with no dysfunction in the kidneys or liver. course and discussions should be on-going with regard
It is important to remember that the sequence of events to long term process. The uncertainty as to the extent of
described may be different in a baby who is chronically any neuro should be highlighted. If the baby is severely
compromised but develops a secondary acute insult. compromised with significant brain injury and neurological
Any baby who needs significant neonatal resuscitation outcome is expected to be extremely poor, withdrawal of
should be admitted to the neonatal unit for observation. intensive care should be considered and discussed with the
Neonatal Paediatrics 31
parents and members of neonatal team. It is also a good Abnormal primitive reflexes (weak or absent suck or
practice to obtain second independent opinion before care is moro response).
withdrawn. It cannot be overemphasised that the decision- The criteria for defining moderate and severe
making process is clearly documented in case notes. encephalopathy are listed in Table 3.1.
Commence continuous rectal or axillary temperature Non-ventilated infants who appear distressed should be
monitoring. sedated with chloral hydrate, 50 mg/kg with respiratory
Turn off incubator or open thermal cot, open portholes. monitoring.
Adjust covering (blankets) or consider use of fan if
temperature outside target temperature. Management of Seizures
Phenobarbitone is first line, followed by Phenytoin and then
Active Cooling Midazolam.
Carried out using appropriate cooling machine.
Servo control mode is preferred. ROUTINE NEWBORN EXAMINATION
Manual control mode may be used in exceptional
All new born babies should have get their first examination
situations.
612 hours after birth preferably after 24 hours. This is an
Re-warming opportunity to pick up any life-threatening conditions. It is
also to reassure the parents that baby is normal or to explain
To be commenced after 72 hours (or earlier if clinical any abnormal findings. Many times doctors might have had
circumstances dictates). warning about abnormalities noticed during antenatal scans
The rectal temperature should be allowed to rise by no or by the nursing staff in the labour room. It is important
more than 0.2-0.3C per hour to 37 0.2C. to review the maternal notes for any risk factors for sepsis
The infants temperature must be monitored for 24 hours like maternal pyrexia during labour, prolonged rupture of
after normothermia has been achieved to prevent rebound membrane (> 18 hours) or preterm labour. Mothers high
hyperthermia that might be detrimental. vaginal swab may be positive for Group B streptococci
(GBS). Examine the notes for maternal serology for syphilis,
Support Care hepatitis B, HIV and immunity for rubella as well as blood
group and any setting for Rh or ABO isoimmunisation. Any
Ventilation family history of inherited disorders, neonatal deaths and
The need for mechanical ventilation may be required. developmental dysplasia of hip should be noted.
It is a good practice to speak to (obtain from) the nursing
Cardiovascular Support staff looking after the mother and baby, if any concerns they
Alternations in heart rate and blood pressure are common may have. Generally babies pass meconium during first 24
during cooling; the heart rate is reduced and blood hours and urine in first 48 hours. If they have not, they should
pressure increased with reduction in body temperature. be carefully assessed to rule out any renal or gastrointestinal
abnormalities.
Most infants with rectal temperature of 33-34 (the target
Examination of newborn is straightforward but clinicians
rectal temperature for whole body cooling) will have a
need to be flexible during the assessment examining area that
heart rate around 100 bpm and a mean blood pressure
will upset the baby last to use the opportunities. Most of the
>40 mmHg.
congenital anomalies are found around the natural openings.
A rapid rise in body temperature may cause hypotension
Apart from the examination of systems, look for any cleft
by inducing peripheral vasodilatation.
lip and palate, absence of red reflex, anorectal and spinal
Causes of hypotension should be sought and appropriate
abnormalities. It is important to palpate for femoral pulses
treatment given. Treatment with volume replacement
as weak or absent femoral pulses may be an indication of
and/or inotropes should be considered if mean arterial
coarctation of aorta or hypoplastic left heart syndrome.
blood pressure is <40 mmHg. When the newborns eyes are examined with an
ophthalmoscope, the retina glows giving rise to the red reflex.
Analgesic and Sedative Therapy
If it is absent, it indicates cataract or other abnormality in
The signs of distress include tachycardia, facial grimacing vitreous or tumour (retinoblastoma). These babies should
and irritability. A heart rate consistently above 100 bpm be reviewed by an ophthalmologist at the earliest. In some
in cooled infants suggests that the infant is distressed. babies, particularly of Asian descent the retina may appear
Ventilated babies may be sedated with intravenous pale. If in doubt, it should be reviewed by a senior clinician
morphine, maximum loading dose 50 microgram/kg or an ophthalmologist.
over 30 minutes followed by 10-20 micrograms/kg/hour. If the baby has a murmur, it is a good practice to
Morphine may need to be discontinued after 24-48 hours obtain the oxygen saturations in the lower limbs. If the
to lessen the risk of accumulation and toxicity. saturations are above 96%, serious congenital heart defect
Neonatal Paediatrics 33
is unlikely. However, review by a more senior paediatrician circumcision. In cases of sacral dimple, examine to see
is recommended. This is reassuring to parents and nursing whether the bottom of the pit is visible and for the presence
colleagues. of any neurological abnormality. If the bottom of the pit is
If a cleft palate is detected, look carefully for any not visible, the baby should be reffered an ultrasound scan of
associated anomalies and assess the feeding and breathing. the lumbosacral region to rule out the tethered cord.
Most of these babies will manage to feed well but involvement Female neonates may have vaginal bleed from withdrawal
of cleft palate team which includes plastic surgeon, speech and of maternal hormones and also vaginal mucosal tag is a
language therapist, dietician and nurse who help to coordinate benign finding and parents need reassurance.
the childs management until cleft palate repair is corrected.
Examination of the hips is also very important. Develop PERINATAL INJURIES
mental dysplasia of hip is more common in female infants,
those born by breech presentation and on the left side. Before Through improved obstetric care, the incidence of birth
examination, make ensure that nappy is removed and babys injuries, has declined but still occur. The types and severity
pelvis is on the bed. First look for leg length discrepancy and of the injuries vary depending on the cause of and the process
then gently abduct the hips. If the full abduction is possible of the difficult delivery. Conditions like multiple gestations,
on both sides, there is no dislocation. Next step is to look abnormal presentations like cephalopelvic disproportion
for hip stability. First fix the pelvis by placing thumb over and large babies, increase the risk of birth injuries. Certain
pubic symphysis and fingers over sacrum (use left hand if genetic conditions like osteogenesis imperfecta are also
you are checking right hip and vice versa). Now grasp the associated with multiple fractures at birth or thereafter.
knee joint in the palm of the hand and place thumb over Common minor injuries seen are caput succedaneum
lesser trochanter and middle finger over greater trochanter. (soft tissue swelling of the presenting part, which usually
Gently adduct the thigh at hip and push it posteriorly. If the disappears within few days after birth), cephalohaematoma
hip is unstable, head of the femur will move out of the joint (subperiosteal bleeding, common on the parietal region, does
Barlow positive. Now gently abduct the thigh by gently not cross midline,) usually appears after delivery and may
pulling it forward. If the head of the femur moves out of persist for several days to weeks. Application of the ventouse
acetabulum during Barlows test, it will move back into the may produce soft tissue swelling called chignon but on rare
joint with a clunk. It is called a positive Ortolani manoeuvre. occasions subaponeurotic or subgaleal haemorrhage. If the
These babies should have an ultrasound scan of the hip joint haemorrhage is severe, it may result in severe blood loss,
and review by an orthopaedic surgeon. Most of these cases shock and death. Other injuries of the presenting part may
are managed by splints like Von Rosens. include injuries from scalp electrodes, abrasions and bruises.
Some of the common findings noted include undescended
Incision wounds may occur during caesarean section.
testes, preauricular tag, haemangioma, Epstein pears on
Application of forceps may be associated with injury to
the hard palate or gums, hypospadias, positional or fixed
the facial nerve resulting in 7th cranial nerve palsy. This may
talipes equino varus, erythematous rash (erythema toxicum,
manifest in the form of deviation of angle of mouth to the
a benign condition) and sacral dimple.
opposite side. It usually recovers spontaneously within days
Unilateral undescended testis does not need any
intervention. Normally, it descends by 6 months of age, to weeks but may take longer. Rarely, it may leave residual
if not, it should be referred to surgeons. If it is bilateral, weakness of the face on the affected side. Management
the baby should be reviewed by a senior paediatrician to involves preventing exposure keratitis and reassurance to the
confirm it and to investigate further note that a phallus may parents.
be an enlarged clitoris. Similarly, any ambiguity of genitalia Another relatively common injury is brachial plexus
should be investigated immediately. Congenital adrenal injury from shoulder dystocia, injury to C5 and C6 results
hyperplasia which may cause virilisation of female could be a in the typical waiters tip positionof adduction, internal
life-threatening condition if not recognised early and treated. rotation at shoulder and extension of elbow (Erbs palsy), but
These should have chromosomal analysis, ultrasound scan with preservation of grasp. Usually it is transient and recovers
of the abdomen and inguinal region to look for gonads and spontaneously. Physiotherapy is usually recommended. If
uterus, blood glucose for hypoglycaemia and electrolytes there is no improvement within a few weeks the children
(hyponatraemia and hyperkalaemia in congenital adrenal are referred to the brachial plexus injury clinic (a combined
hyperplasia). service of orthopaedics, neurology and physiotherapy). The
Hypospadias should be assessed for its severity (coronal, main thrust of management is to prevent imbalance between
penile and penoscrotal) and for the presence of chordee. different muscle groups and maximise the function of the
If there are no associated anomalies, the baby should be limb. Rarely, extensive damage may include C8 and T1 alone
referred to a surgeon and parents should be advised against (Klumpkes palsy) or together with C5 and C6. Involvement
34 Hutchison's Paediatrics
of C8 and T1 will result in weakness and paralysis of small heart syndrome or cyanotic congenital heart disease as PPHN
muscles of hand. The diaphragm on the same side too may from meconium aspiration syndrome. It is also helpful for
be affected. Other uncommon injuries include fracture of monitoring the response to inhaled nitric oxide therapy by
clavicle, humerus and skull. assessing the degree of tricuspid regurgitation.
It is important to remember that babies with meconium
MECONIUM ASPIRATION SYNDROME aspiration syndrome may have been compromised in utero
and are risk of developing hypoxic ischaemic encephalopathy.
Meconium stained liquor is a relatively common occurrence
There are trials comparing the outcome for babies who are
with no significant adverse effect but some babies can
cooled during ECMO compared to babies who were not
develop meconium aspiration syndromemeconium
cooled during ECMO.
aspiration, respiratory distress and chest X-ray changes.
This is one of the dreaded complications due to risk of
TRANSIENT TACHYPNOEA OF THE
persistent pulmonary hypertension of the newborn (PPHN).
NEWBORN (OR WET LUNG)
Meconium aspiration syndrome is commoner in babies
born postterm and in babies with foetal distress. There is This is a relatively common condition in babies born by
no evidence to support suction of the baby's mouth and elective caesarean section due to a delayed resorption of lung
oropharynx at the perineum before the shoulder. If the baby fluid into the pulmonary lymphatic system, this is normally
is born in a good condition and is crying, no suction is facilitated by passage through the birth canal and up
needed. However, if the baby is in a poor condition or regulation of some hormonal activity. Most of these babies
not making any respiratory effort, the oropharynx and the will improve during first few days of life but some develop
vocal cords should be suctioned under direct vision before significant respiratory distress needing incubator oxygen,
starting intermittent positive pressure ventilation. These continuous positive airway pressure (CPAP), intubation and
babies should be closely monitored and preferably admitted ventilation. Chest X-ray may show fluid in the horizontal
to the neonatal unit for observation. fissure with increased bronchovascular markings.
It is important to maintain high oxygen saturation in these
babies to prevent development of the PPHN. It is acceptable CYANOTIC CONGENITAL HEART DISEASE
practice to start antibiotics after obtaining blood culture. Chest
X-ray may show patchy opacification with air trapping. These Although congenital heart disease is not very common,
babies are also at risk of pneumothorax. This is due to the it is important to recognised it early and start appropriate
"ball valve" effect of meconium depending on the severity of management.
the clinical picture. They may require mechanical ventilation, In foetal life, the gas exchange takes place in the placenta
incubator oxygen, head box oxygen, intubation and ventilation and the oxygenated blood is carried by umbilical vein to the
and inhaled nitric oxide. Many clinicians administer surfactant right atrium through ductus venosus and inferior vena cava.
may be required for secondary surfactant deficiency resulting Some of this blood is diverted across the foramen ovale to
from the effect of meconium. Blood gases should be monitored left atrium. The remaining blood with superior vena caval
for CO2 retention and hypoxia, while acidosis should be return enters right atrium. The left ventricular output mainly
corrected as it may worsen the pulmonary hypertension. If supplies head, neck and upper part of the body. The right
the baby is on inhaled nitric oxide, methaemoglobin should ventricular output is largely diverted to the descending
be monitored. Oxygenation index is particularly useful to aorta through the ductus arteriosus. The descending aorta
assess the response progress and the need for extracorporeal supplies the lower part of the body and also gives rise to
membrane oxygenation (ECMO). The current ECMO umbilical arteries which carry blood to placenta. Once the
practice with the use of venovenous cannulation has reduced baby is born, the lungs aerated, and the pulmonary vascular
the neurological complications compared to arteriovenous resistance falls and blood flow to lung increases. The ductus
cannulation used previously. When facilities are not available arteriosus, foramen ovale and ductus venosus closes (Fig.
for nitric oxide or ECMO, prostacyclin, magnesium sulphate 3.1).
infusion may be used as pulmonary vasodilator. The baby However, if the pulmonary vascular resistance does not
may also need other supportive measures like inotropes for fall as expected, the baby will develop PPHN, similar to
hypotension, correction of coagulation abnormalities and some babies with meconium aspiration syndrome.
electrolyte abnormalities. Congenital heart disease may be acyanotic with left to
If facilities are available echocardiogram should right shunt [atrial septal defect (ASD), ventricular septal
be performed to prevent the error of wrongly labelling defect (VSD) and persistent ductus arteriosus (PDA)].
underlying serious cardiac conditions like hypoplastic left This is unlikely to create a major clinical problem in the
Neonatal Paediatrics 35
neonatal period as the pulmonary vascular resistance is high maintain ductal patency and transferred to specialised centres
and shunt across the defect is not significant. In cyanotic for Norwood procedures.
congenital heart disease, there is a mixing of oxygenated and
deoxygenated blood causing cyanosis. The mixing can occur
NEONATAL JAUNDICE
if there is a communication between left and right side of
the heart through ASD, VSD or PDA. If there is no ASD or Jaundice is common in the neonatal period. If jaundice is
VSD, mixing will depend on PDA. If the PDA closes, the severe it may lead to bilirubin encephalopathy (kernicterus).
baby will become very unwell and may die. This group of Mainly basal ganglia and auditory nucleus are affected,
congenital heart disease which require PDA for the babys but any part of the brain is at risk. If unrecognised and
survival are called duct-dependent cyanotic congenital heart untreated, it may result in death or severe neurodisability
diseasestransposition of great arteries is an example. (choreoathetoid cerebral palsy and deafness). Therefore, it is
If it is suspected, the diagnosis should be confirmed by important to identify jaundice, assess the severity with serum
echocardiography and baby started on prostaglandin infusion bilirubin, measurement identify the cause and treat.
to maintain the ductal patency. The administration of oxygen Nearly 7 out of 10 normal neonates are jaundiced in first
should be avoided as this may result in ductal closure. Some few days of life. There are several physiological reasons
clinicians accept saturations as low as 70%, provided baby is why they are jaundiced. They have high red cell mass at
not very unwell and acidotic. Once the baby is stable, should birth (due to the relatively hypoxic environment) short red
be transferred to cardiac centre for further management. blood cell life span of approximately 80 days and immature
Sometimes, balloon septostomy is carried out to allow the liver conjugation system, and the increased enterohepatic
mixing of blood at atrial level so that closure of ductus will circulation due to sterile gut. The jaundice generally appears
not compromise the baby and definitive surgery is done later. on second day of life. It is clinically visible when serum
Another important cardiac condition is hypoplastic bilirubin reaches 85 micromoles per decilitre (5 mg/dl).
left heart syndrome where, left side of the heart is poorly It increases in severity until day 45 and gradually falls
developed. The systemic circulation is maintained by shunting and disappears by day 10. This is known as physiological
across ductus arteriosus from right ventricular output. jaundice and does not usually require any treatment. It is
These babies should be started on prostaglandin infusion to important to remember that the physiological jaundice is
36 Hutchison's Paediatrics
diagnosis by exclusion. Therefore, every jaundiced baby Exchange transfusion is becoming a rare procedure
should be carefully evaluated to rule out pathological causes. in developed countries as Rh isoimmunisation is on the
If the jaundice appears on the first day of life even in decline and phototherapy is effective. The aim of exchange
preterm babies, it is deemed pathological and severe enough transfusions is to remove antibody coated red cells, antibodies
to require intervention. The same applies if it persists beyond in serum, reduce and correct anaemia. Double volume whole
the usual period; it needs investigation and treatment. blood (or reconstituted red blood cells) is used for exchange
Early jaundice is generally secondary to haemolysis transfusion through umbilical blood vessels. It is an invasive
although it may be secondary to infection, extensive bruising procedure and needs careful preparation, and monitoring. A
and concealed haemorrhage. Haemolysis may be secondary person experienced in this procedure should do it.
to antibodies, or defects in the red cells structure or enzymes. The estimated blood volume of a term neonate is 85 ml/kg
Early jaundice, secondary to haemolysis from incompatible while that of a preterm neonate is about 100 ml/kg. Aliquots
blood group like Rh isoimmunisation is a major cause of of 10 ml/kg are used per cycle, with the whole procedure
haemolytic jaundice although the incidence is declining with lasting between 45 minutes and 90 minutes. Monitoring of
anti-D prophylaxis in Rh negative mothers. On the other vital signs with intermittent assessment of blood glucose,
hand, ABO isoimmunisation is increasing in importance. The calcium and haemoglobin is recommended.
jaundice secondary to ABO isoimmunisation is not severe In order to ensure no loss of circulating volume, the pre-
enough to require exchange blood transfusion. Other minor and post-procedure central venous pressure should be taken.
blood group isoimmunisation can also produce neonatal Rh isoimmunisation is generally recognised early in
jaundice. The red cell defects such as hereditary spherocytosis pregnancy and is monitored by ultrasound scans, cerebral
and glucose-6-phosphate dehydrogenase deficiency, pyruvate arterial blood flow velocity and sometimes cordocentesis. If
kinase deficiency are not common, but important particularly the haemolysis is significant, intrauterine transfusion through
when there is no obvious cause to explain the presence of the umbilical cord is advocated. This procedure is usually
jaundice or haemolysis. carried out in a highly specialised centre. Rh negative blood is
The decision to treat jaundice is based on the gestational used for this procedure. Most babies may require phototherapy
age of the baby and the postnatal age. Babies who are preterm at birth and sometimes immunoglobulins but rarely exchange
should be treated at a lower serum bilirubin level than a transfusion. They may continue to have on going haemolysis
baby born at term. The level of bilirubin needs treatment. and may need red blood cell transfusion for several months.
Several factors like general well-being of the baby, severity Blood for these transfusions must be CMV negative and be
of haemolysis, and presence of sepsis should be taken into irradiated to prevent graft versus host reaction.
consideration in determining the threshold for treatment.
Case Study
Adequate hydration is important, as dehydration will
increase the serum bilirubin level. Phototherapy and exchange A baby girl (twin1) was born at 28 weeks of gestation by
transfusion are the mainstay of treatment. Phototherapy is emergency caesarean section for poor biophysical profile. She,
the recipient of twin-to-twin transfusion, had in utero exchange
very effective and acts by photoisomerisation and photo-
transfusion and amnioreduction for ascites. Post-delivery, she
oxidation of the bilirubin into water excretable forms.
had respiratory distress syndrome (RDS), anaemia, jaundice
The light with wavelength of 450500 nanometre (blue and Grade II intraventricular haemorrhage (IVH) bilaterally. She
light) is very effective. Effectiveness of phototherapy can developed Staphylococcus aureus septicaemia (vancomycin
be maximised by increasing the intensity of light (double, sensitive) at 2 weeks of age and was treated with a 14-day
triple or quadruple phototherapy) or maximum exposure of course of intravenous antibiotics (vancomycin and cefotaxime);
the body surface. Standard phototherapy units or bilibed or cerebrospinal fluid (CSF) examination was normal. She
biliblanket administer phototherapy. The eyes are covered developed S. aureus thrombophlebitis with abscess formation
to protect them from exposure to light. Side effects include in the right upper limb during the course of her septicaemia
photodermatitis, temperature instability, loose stools and and this was drained. By day 14 blood cultures were negative,
the abscess had healed and baby was clinically well. She was
dehydration.
discharged home at the corrected gestational age of 33 weeks
The effectiveness, availability and the ease of
administration of phototherapy has reduced the need with an outpatient follow-up appointment.
for exchange transfusion dramatically. In many places, Two weeks after discharge she was readmitted with episodes
phototherapy is administered at home with appropriate of vomiting and apnoea. Cranial ultrasound scan was normal;
support and supervision. sepsis was excluded and a presumptive diagnosis of gastro-
Intravenous immunoglobulins is also effective in oesophageal reflux was considered although oesophageal
reducing the severity of haemolytic jaundice. It, together pH study was normal. The vomiting gradually settled over
next 3 weeks without any anti-reflux medications and she was
with phototherapy, is very effective and has reduced the need
discharged home.
for exchange transfusion.
Neonatal Paediatrics 37
In the neonatal follow-up clinic at 41 weeks of corrected The IUGR secondary to placental insufficiency may be
gestational age, her head circumference was noted to be above of variable severity varying from normal placental blood
the 50th centile (previously it was growing between 10th and 50th flow, intermittently or completely absent end-diastolic flow
centile). Clinically the baby was well and the cranial ultrasound to reversed end-diastolic flow.
scan appeared normal. Subsequent review after 2 weeks showed Clinical examination may show a baby who is scrawny
a rapid increase in the head circumference (on 90th centile) with with reduced subcutaneous fat and clinical features
sutural separation and a few dilated scalp veins. The cranial hepatosplenomegaly, purpura and cataract may indicate
ultrasound scan at this time showed multiple low echogenic intrauterine infection, while contractures could result from
areas and cranial CT scan established the diagnosis of multiple
reduced liquor volume.
brain abscesses with surrounding oedema and a dilated left
Investigation and management of these babies is
lateral ventricle.
Aspirate from the frontal lobe abscess grew S. aureus on
challenging. Careful analysis of the maternal health and
culture. Echocardiogram, abdominal ultrasound, neutrophil clinical examination of the baby helps to streamline the
functions and immunoglobulins (including IgG subclasses) were investigations that are required to aid diagnosis. These babies
normal. The brain CT scan prior to discharge still showed fluid need supportive care to maintain their temperature, blood
filled areas but a subsequent cranial brain CT scan was reported glucose levels. Associated complications like polycythaemia,
to be normal with complete resolution of the abscesses. jaundice should be managed appropriately. Some of these
This case illustrates how the complications of neonatal babies particularly those with severe IUGR and reversed
sepsis can develop insidiously and present in unusual way and end-diastolic flow or intrauterine infections are at increased
also, the importance of growth monitoring. risk of adverse neurological outcome.
Prevention of IUGR is important. Promoting the maternal
INTRAUTERINE GROWTH RESTRICTION health by avoidance of smoking, alcohol consumption, good
OR RETARDATION nutrition, good control of maternal illnesses like diabetes,
hypertension helps to prevent or reduce the extent of IUGR.
In this condition, baby is not able to achieve the expected Although most of these babies are delivered normally, some
growth potential. This should not be confused with the need to be delivered by elective caesarean section to prevent
term small for gestational age (SGA), which means adverse outcome like intrauterine death, birth asphyxia or
babys weight is below 10th centile for that gestational age meconium aspiration syndrome.
irrespective of the cause. Although these terminologies are
used interchangeably, they should be used with caution. Low, Very Low and Extremely Low Birth Weight
A baby with intrauterine growth restriction or retardation Infants
(IUGR) may be preterm, term or postterm baby. If the babys
Any baby with birth weight of less than 2.5 kg is termed as
growth is affected very early in pregnancy, the head size,
low birth weight (LBW). If the weight is less than 1.5 kg, it is
length and weight area all are affectedsymmetrical IUGR.
referred to as very LBW and if below 1kg, the term extremely
If the growth is affected toward the later part of pregnancy,
LBW is used. These babies are at increased risk of mortality
head growth is spared but weight is affected asymmetrical
and morbidity than babies with greater birth weights. The
IUGR. The IUGR may be due to maternal or foetal causes.
lower the birth weight, the higher the risks of morbidity.
Maternal smoking, alcohol and substance misuse, poor
Babies with birth weight below 2.5 kg can be managed with
nutritional status, multiple pregnancies, maternal ill health
measures like keeping them warm and early feeding and
like pregnancyinduced hypertension, chronic renal failure,
maintaining their blood glucose levels. However, very small
poorly controlled diabetes, placental failure to name a few
causes of IUGR. babies may require extensive support including ventilation
Intrauterine infections with the TORCHES complex and parenteral nutrition. These infants should be cared for
like cytomegalovirus, rubella, toxoplasmosis, congenital in centres with adequate facilities and clinical expertise,
syphilis, herpes and chromosomal anomalies are some of the including dedicated neonatal medical and nursing staff.
foetal causes of IUGR. Doctors have to remember that many of these babies are born
These babies are at risk of increased mortality and preterm, which again increases the morbidity and mortality
morbidity. Hypoglycaemia, poor temperature control, based on the immaturity associated with their gestation.
polycythaemia, meconium aspiration, poor feeding and
jaundice are common and need close monitoring. NEC and PRETERM
RDS are also more common in preterm babies who are These babies may be born preterm, this increases their risk
growth retarded than babies who are appropriately grown. of morbidity based on the immaturity of gestation. Any baby
38 Hutchison's Paediatrics
born at before 37 completed weeks of gestation is referred by this measure. If the preterm delivery is anticipated, the
to as a preterm infant. The threshold of viability is variable senior paediatrician should speak to the parents and counsel
from country to country based on the facilities and consensus them regarding the survival and morbidity.
amongst the experts. In the United Kingdom, it is 24 weeks At the time of delivery particularly for very preterm
onwards. The more premature the baby, the higher is the babies, experienced clinical staff experienced in resuscitation
likelihood of adverse outcome for morbidity and mortality. and stabilisation should be in attendance. Delivering the baby
Babies born below 32 weeks of gestation are at increased straight into the plastic bag will reduce heat loss and prevents
risk of RDS (surfactant deficiency), NEC, and retinopathy hypothermia. This has also been show to ensure a normal
of prematurity (ROP) and IVH. They are also susceptible to admission temperature. If the baby shows signs of significant
the risk of infection and long-term developmental problems. respiratory distress, elective intubation and prophylactic
These babies should be managed in neonatal units with surfactant is of proven benefit. If the baby is born at less than
adequate facilities and well-trained staff. A preterm baby
28 weeks of gestation, and is vigorous, early nasal CPAP is
could be small for gestational age, SGA with birth weight
an option to elective intubation and surfactant administration.
(< 10th centile), appropriate for gestational age (AGA)
If the baby requires respiratory support, excessive positive
(between 10th and 90th centile) or large for gestational
pressure and tidal volumes should be avoided to prevent
age (LGA) (> 90th centile). Administration of antenatal
steroids for preterm deliveries below 34 weeks of gestation volutrauma and barotrauma. It is important to remember that
has reduced the incidence and severity of RDS and other most of these babies need support and stabilisation rather
complications like IVH. than resuscitation.
The increasing use of early nasal CPAP at resuscitation
Postnatal Assessment of Maturity and thereafter, has resulted in fewer babies intubated and
receiving endotracheal surfactant.
Although gestation is based on first day of last menstrual
period or on the early antenatal ultrasound scans, there are
Clinical Features
occasions when this is not available. In those circumstances,
assessment can be performed using various scoring systems The clinical features of preterm baby depend on their
like Dubowitz and Bells. These assessments are based on gestational age not only in terms of weight but also in their
physical characteristics like skin thickness, presence of appearance. Babies who are born near term (3336 weeks of
oedema, lanugo, etc. and neurological parameters like tone, gestation) may not appear very different from term babies.
range of movements around joints, etc. To get a reasonably They are now recognised to have other morbidities and
accurate gestational assessment, it should be done during outcomes, which are different from the term or more preterm
first few days of life. It is important to remember that these babies. Preterm babies have less subcutaneous fat, are often
assessments would not be accurate if the baby is unwell and oedematous and may have extensive lanugo a larger head and
that the accuracy lies within 2 weeks of the gestational age. large body surface area.
Immediate Management of Preterm Infant Management: The main thrust of management is to maintain
their body temperature, achieve adequate nutrition and
When compared to term infants, babies with a lower gestation,
provide support for various systems. If the baby is born at
have a higher mortality and morbidity. Advances in medical
technology have improved the survival rate for these babies 3536 weeks and is appropriately grown, baby may stay
who may survive with disabilities and other complications. with the mother in the postnatal ward with support from the
In countries with good neonatal care, increasing numbers midwives. Some of them may need heated cot. If the baby is
of babies born at or below 24 weeks of gestation are surviving. born at less than 35 weeks of gestation, he or she should be
The best management is to prevent or delay the preterm delivery managed in the neonatal unit.
whenever possible. If the gestation is less than 34 weeks and Maintenance of body temperature: Aim to maintain the
delivery is imminent, administration of antenatal steroids at babys body temperature within normal range of 3637oC
least 24 hours before delivery will greatly reduce the severity with minimal oxygen consumptionthe thermoneutral
of significant problems like RDS, IVH and hypotension. environment. Incubator care is generally needed for more
Preterm delivery can be delayed by the use of tocolytics like premature babies. Gestational age and presence of other
atosiban (oxytocin receptor antagonist), nifedipine (calcium clinical conditions should be taken into consideration. Some
channel receptor antagonist), indomethacin (prostaglandin preterm babies particularly those born between 33 and 35
synthetase inhibitor) or terbutaline (beta receptor antagonist). weeks may be able to maintain their temperature in a cot,
A delay of up to 48 hours to delivery is sometimes achieved others may need heated cot. Importance of suitable clothing,
Neonatal Paediatrics 39
hat, mittens and blankets cannot be overemphasised in establish adequate enteral nutrition, optimise protein content
this group of babies. The incubator temperature should be up to 3 g/kg per day in TPN to achieve adequate nutrition.
maintained according to the gestational age of the infant. In The neonatal pharmacist and dietician play an important role
general, the lower the gestation, the higher is the incubator in the care of these babies.
temperature. Transepidermal water loss also contributes Our practice is to, necrotising enterocolitis is a life-
towards excessive heat loss from the babys body. Therefore, threatening complication in this group of babies. We aspirate
high humidity should be maintained, if the baby is very gastric contents every 6 hours. Aspirates measuring less than
premature till the babys skin is mature. Dehydration is or equal to 50% of the total feed volume in the previous 6
known to result in electrolyte derangement, poor growth and hours are returned and feeding continued. If the aspirates
temperature problems like dehydration fever. are more than 50%, feeding is stopped, baby is reviewed
and if clinical examination is normal, feeds are restarted at
Nutrition and the Preterm Infant lower rate and increased rapidly to achieve the previous rate
Nutrition is extremely important to prevent both short-term and then increased as done previously. Once the baby is on
morbidities and adverse long-term outcomes. It is almost full enteral feeds, feeding interval is increased initially to
impossible to replicate intrauterine nutrition postnatally in 2 hours, then 3 hours and finally to 4 hours before baby is
preterm babies. There are two determinantsability of baby ready to be discharged.
to suck and swallow feeds and second is the ability to tolerate
the feeds. The more preterm the baby is the greater are these Immaturity of the Organ Function
problems. More mature and bigger babies may be started on The skin in preterm infants is thin and fragile. The excessive
nasogastric or suck feeds based on their maturity. transepidermal loss of water has already been discussed.
Preterm babies with birth weight of less than 1,500 grams Immaturity of kidneys is manifested by the babys inability to
are usually started on total parenteral nutrition (TPN) along either dilute or concentrate beyond certain point as well as to
with lipids during the first few days of life. The regimen is reabsorb the electrolytes. Therefore, monitoring the urinary
to start these babies of sodium free TPN day 1 at 90 ml/kg output and serum electrolytes in preterm babies is important.
and increase by 15 ml every 24 hours until volume of 180 Preterm babies have limited reserves of glycogen, fat and
ml/kg is achieved. The standard TPN replaces sodium free gluconeogenesis, and are at high-risk of hypoglycaemia
TPN after 48 hours. The protein intake should be maximised during first few days of life. In very preterm babies, insulin
to about 2.5 gm/kg/day3.0 gm/kg/day. Start 20% lipid production is limited; this coupled with insulin resistance of
infusion (combination of intralipid 20% and vitlipid infant) the tissues may result in hyperglycaemia. Hyperglycaemia
on day 2 to 3 at 0.5 g/kg per day and increase it by 0.5 g/kg may produce osmotic diuresis, dehydration and electrolyte
per day to a maximum of 3 g/kg per day while maintaining imbalance. Feed intolerance, manifesting as increased
serum triglycerides within normal limits (serum triglycerides gastric aspirates, bile stained aspirates and abdominal
< 1.5 mmol/L, rate increased from 1.5 to 2.0 mmol/L, rate distension is another major problem.Though rare, when
maintained > 2.0 mmol/L, infusion stopped). hyperglycaemia persists with the need for insulin therapy to
Normally feeding is started 2448 hours after birth at achieve normoglycaemia, the diagnosis of transient neonatal
a rate of 15 ml/kg per day and maintained for 24 hours diabetes mellitus should be considered.
administered as hourly boluses. It may then be increased
with reduction in parenteral fluids by 15 ml/kg every 12 Respiratory Disorders
hours as tolerated until full enteral feeds were achieved. It
Apnoea
is important to monitor electrolytes on daily basis so that
electrolytes in TPN are adjusted accordingly. Prolonged respiratory pauses (more than 20 seconds)
Expressed breast milk from the mother is the preferred in preterm infants may be associated with cyanosis and
milk. It is important to encourage and give information bradycardia. Although these may be related to immature
regarding breast milk to the mothers so that supply is respiratory centre particularly in babies born below 34 weeks
maintained by adequate frequent expressing. If breast milk of gestation (apnoea of prematurity), they may be a feature of
is not available or inadequate, formula feeds are started. underlying illness. Therefore, the baby should be evaluated
There is a great variation in the practice, some units use to rule out sepsis, hypoglycaemia and respiratory illness
hydrolysed formulae, others use term formula or preterm (viral, aspiration, bacterial infections). Management includes
formula to start. In places where donor breast milk is treating the underlying condition, while caffeine citrate is
available, it is preferred over formula feeds as it is better useful for apnoea of prematurity. If the episodes are frequent
tolerated and still has anti-infective properties in spite of the baby is at risk of significant hypoxia and may be managed
freezing and pasteurisation. In babies taking a long-time to with CPAP or ventilation.
40 Hutchison's Paediatrics
Respiratory Distress Syndrome dysfunction, reduced blood supply to gut (increased risk of
necrotising enterocolitis) and arterial steal from the cerebral
This was previously called as hyaline membrane disease,
circulation. The clinical manifestations depend on the extent
which is a pathological diagnosis. This condition is due to
of shunting across the ductus and associated morbidities
surfactant deficiency. Surfactant reduces the surface tension
particularly RDS. Diagnosis is based on clinical findings
at the alveolar surface and prevents their collapse at the end
and echocardiography to assess the size and the effect of
of expiration. Babies of lower gestation have a higher risk of
duct on the heart. One of the common measurement used is
and severity of RDS. The clinical symptoms start soon after left atrium to aortic ratio. Decision to treat the PDA should
the birth and worsen gradually during first 6 hours of age. be taken based on careful clinical evaluation. If the baby is
Signs and symptoms include increased work of breathing clinically well and PDA is not significant, there is no need
(intercostal and subcostal recession), grunting (exhalation to treat and it may close spontaneously. If it is significant,
against partially closed glottis to maintain functional residual it may be managed conservatively (fluid restriction, CPAP)
volume) and cyanosis with increased oxygen requirement. or by medical management (administration of prostaglandin
The chest X-ray is characteristic with air bronchogram, inhibitors like indomethacin and ibuprofen) and ductal
generalised atelectasis and reticulogranular opacification. In ligation (rarely needed). Prostaglandin inhibitors may have
the pre-surfactant era, many of these babies died and those renal and gastrointestinal side effects and may also affect
who survived usually got better after 3 days, following a platelet function. Therefore, decision to treat should be taken
significant diuresis. The availability of surfactant, CPAP, by a senior clinician and parents should be informed.
and better ventilatory strategies and widespread use of
antenatal steroids has dramatically altered the clinical course Intraventricular Haemorrhage
of this illness. Most babies respond immediately to surfactant Intraventricular or periventricular bleeding is a major
with decreased oxygen requirement and reduced work of problem in preterm babies born at less than 32 weeks of
breathing. Prophylactic surfactant has led to even extremely gestation. The more preterm the baby is, the higher the risk
LBW babies been extubated within first 2 days of life. of IVH. Administration of antenatal steroids to the mother
Surfactant is administered under aseptic precautions through will reduce the risk. The parents should be counselled
the endotracheal tube with necessary precautions to make regarding this risk if preterm delivery is anticipated. It is
sure that it is distributed equally to both lungs (endotracheal important to perform an early cranial ultrasound scan as soon
tube should be in correct position, the baby should be in as the baby is stabilised. Cranial ultrasound scan is usually
supine position and head is in midline). Initially, oxygen performed on days 1, 3, 7 and 28 of life. Risk of bleeding
requirements may be increased but soon there is dramatic is highest during first 72 hours of life, slightly reduced from
response as lung compliance improves. It is important day 4 to 7. The risk of intraventricular bleed is low after
to monitor very closely and adjust the ventilator settings day 7 of life. Although it is common practice to correct
and oxygen requirements to avoid hyperoxia, volutrauma, any clotting abnormality in preterm babies, there is lack of
barotraumas and hypocarbia (reduced carbon dioxide), evidence on any reduction in the incidence of IVH. There is
because hypocarbia produces cerebral vasoconstriction and also no consensus regarding normal values of clotting times
volutrauma increases the risk of chronic lung disease of in neonates; therefore, practices vary. The onset of a bleed
the newborn. The surfactant of bovine and porcine origin may be heralded by sudden drop in haemoglobin, increased
is available and is used based on the local guidelines and ventilatory requirement, hemodynamic instability and blood
experience. glucose instability. Bleeding may extend during first few
days of life.
Persistent Patent Ductus Arteriosus Intracranial haemorrhage is Graded IIV. When the
The ductus arteriosus serves an important function in the bleed is confined to the germinal matrix, it is Grade I,
foetal life by diverting the blood from pulmonary trunk into if it extends into the ventricular cavity, it is Grade II, if
aorta. It closes soon after birth as the pulmonary pressure the intraventricular bleed is associated with ventricular
falls. However, in preterm babies, it may not close due to dilatation, this is Grade III and if the bleeding is in the brain
immaturity of the ductal tissue. As the systemic pressure parenchyma, it is regarded as Grade IV. Grades III and IV
is higher than pulmonary pressure, the blood flows from are associated with increased morbidity. If the Grade IV
aorta into pulmonary trunk and to lungs. This has important bleeding is bilateral and extensive, it carries high-risk of
implications. Firstly, it increases the preload on the heart major neurodisability. Parents should be kept fully informed
and secondly, it causes pulmonary congestion. The baby of the presence and progression if IVH. Another complication
develops tachycardia, wide pulse pressure from diastolic is post-haemorrhagic hydrocephalus for which management
run off and metabolic acidosis. Babies may develop renal remains a challenge.
Neonatal Paediatrics 41
Other trisomies like Edward and Patau syndrome are not out BWS in view of asymmetrical large tongue. Apart from slow
common but create challenges in the management. Although feeding probably secondary to large tongue, her course was
most of these children are likely to die soon, there are otherwise uncomplicated, her blood sugars were stable, cranial
some who survive for extended period of time. This poses and abdominal ultrasound scans were normal. Her AFP was
particular problem if the baby also has correctable congenital initially high during first week and subsequently normalised. She
heart problemwhether to correct or not? Parents need extra was discharged home at 30 days of life after establishing full suck
support to cope with this uncertainty. feeds.
Many babies are born with unexplained subtle dysmorphic
features and various clinical problems like failure to Analysis of the blood sample revealed loss of methylation
gain weight, feeding difficulties, etc. and conditions like at the KvDMR1 (differentially methylated region), but no
congenital myotonic dystrophy, spinal muscular dystrophy hypermethylation at the H19 DMR. This was consistent
should be considered. It is important to obtain a detailed with a diagnosis of BWS. After consultation with the
family history and a review by a senior paediatrician is very geneticist, it was explained to the parents that the baby
useful. If the diagnosis is uncertain, doctors should explain was not at increased risk of tumours and AFP screening
the findings, uncertainty of diagnosis and need for genetic was not absolutely necessary. Parents opted to have only
investigations to look for deletion/duplication syndromes the 3 monthly ultrasound of abdomen. These two cases
following parental consent and geneticists opinion. It is demonstrate the differing clinical features of same condition
important that the adequate blood sample is sent in correct and how the less classical variety could have been missed if
specimen bottles to the laboratory, and it is worthwhile not suspected and also advances in molecular genetics.
checking with the laboratory before sending the sample.
Off late, with the advances in molecular genetics, many
other conditions which were previously missed are picked Beckwith-Wiedemann Syndrome
up. Following case history demonstrates one such case. Beckwith-Wiedemann syndrome was described independently
Case Study in the 1960s by Dr Wiedemann and Dr Beckwith. Children with
BWS have some of these five major features: (1) macroglossia,
Case 1
(2) macrosomia, (3) hypoglycaemia at birth, (4) abdominal wall
Baby was born at 31 weeks gestation by emergency caesarean
defect (exomphalos) and (5) ear pits or creases. Associated
section for foetal distress with birth weight (2,350 g) and head
findings include hemihypertrophy, increased incidence of renal
circumference (32 cm), greater than 97th centile. The antenatal
anomalies, hypercalciuria, and predisposition to tumours,
period was uneventful. Baby had sloping forehead, flat nasal
especially abdominal tumours (Wilms tumour, adrenal carcinoma
bridge and a prominent tongue and larger left half of the body.
and hepatoblastoma). Other abnormalities seen are cleft palate,
There was intermittent hypoglycaemia in the first 34 days which
refractory hyperinsulinaemia, mental retardation and polydactyly.
resolved subsequently. Based on the findings of macroglossia
The syndrome has a molecular aetiology related to genetic and
with hemihypertrophy, Beckwith-Wiedemann syndrome (BWS)
epigenetic mutations on 11p15. Majority are sporadic; however, 15%
was suspected. Genetic tests confirmed the diagnosis of BWS as
are inherited and 1% occurs due to chromosomal abnormalities.
a result of uniparental (paternal) disomy at chromosome 11p15.
There has been a suggestion linking the increased number of BWS
This type is known to be associated with higher risk of developing
with the increase in assisted reproductive treatment (ART). The
tumours. Baby was discharged home with arrangements for 3
described population frequency ranges from 1 in 13,700 to 1 in
monthly abdominal ultrasound scans and regular monitoring
15,000 births (Fig. 3.2).
of the alpha-fetoprotein (AFP) (for tumour surveillance). Baby
developed hepatoblastoma and needed chemotherapy and
tumour resection for the hepatoblastoma. Baby also had speech
HAEMATOLOGY
problems related to the large tongue. This is the classical variety.
Clotting Abnormalities
Case 2
Coagulation abnormalities are common among preterm
Baby was born at term by spontaneous vaginal delivery to a
babies and could be reflective of underlying disease processes
primigravida with uncomplicated pregnancy and was growth
but are fought with pitfalls. The interpretation of coagulation
restricted with birth weight of 2,800 g, 10th centile, and head
profile in newborn infants needs consideration of gestational
circumference of 32 cm, less than 10th centile and had flat
age, postnatal age and the state of well-being of the neonate.
nasal bridge and prominent forehead and a left sided large
Many studies have shown that adult reference ranges for
asymmetric tongue. Baby had normal female karyotype (46
coagulation screening tests, especially prothrombin time (PT)
XX) and samples were sent from baby and both parents to rule
and activated partial thromboplastin time (APTT), cannot
Neonatal Paediatrics 43
Thrombocytopenia
Thrombocytopenia in neonatal period may be secondary
to sepsis or secondary to isoimmune thrombocytopenia
from platelet group incompatibility between the baby and
mother. Occasionally, thrombocytopenia may be secondary
to maternal immune thrombocytopenia like idiopathic
thrombocytopenic purpura.
Alloimmune thrombocytopenia is not common but is
important because it may cause intracranial haemorrhage in
the foetus. It may be necessary to deliver these babies by
caesarean section to avoid trauma during delivery. If the baby
has severe thrombocytopenia, intravenous immunoglobulins
and steroids have been used in addition to platelet transfusion.
It is important to inform the laboratory early so that they can
arrange for compatible platelets.
The threshold for transfusion of platelets in sepsis is
variable. Generally, platelet count of less than 50,000 per
Fig. 3.2: Beckwith-Wiedemann syndrome cubic mm is considered as an indication. Sometimes, it would
not improve the platelet count. In such situations, if the baby
be applied to newborns and young infants. The normal is stable and does not bleed excessively after venepuncture or
haematological ranges for term and preterm babies issued by heel pricks, threshold can be set higher.
the British Society of Transfusion and Tissue Transplantation
is not gestation age dependant as there can be marked variation Neutropenia
in the clotting profile between the preterm infants of different This is a relatively common finding particularly in preterm
gestations. Results of the coagulation assay are also technique infants. In preterm infants, neutropenia usually resolves
dependant and differ between laboratories. toward the end of 2nd week of life. There is no need for any
In one of our surveys of the British Association of intervention. However, management of neutropenia in septic
Perinatal medicine numbers more than 75% of the babies is controversial. Many neonatologists use granulocyte
respondents did not consider routine coagulation screen colony stimulating factor to improve neutrophil count.
in preterm babies and only 39% had written policy on However, there is no definite evidence that it improves the
the management of clotting abnormalities. It is interesting outcome.
to note that almost 30% did not agree with the specified
normal range for preterm APTT. Therefore, it is essential INBORN ERRORS OF METABOLISM
that decision to treat or not to treat is taken after careful Although these conditions are rare, they are very important
consideration of the clinical condition of the baby. Authors as early detection and management will affect their long-
normally use fresh frozen plasma if the clotting remains term outcome. Neonatal spot screening in many countries
abnormal after administration of vitamin K. will detect phenylketonuria (PKU) which is amenable for
management by dietary interventions. Although the list of
Polycythaemia these disorders is exhaustive, the clinical manifestations are
Polycythaemia is relatively common condition in babies with nonspecific and may suggest sepsis. Therefore, inborn errors
IUGR and also in infant of diabetic mother. Sometimes, it of metabolism should be considered in all unwell babies.
may be secondary to placental transfusion like in delayed Generally, baby is well at birth and becomes unwell soon
cord clamping. High haematocrit (Hct) increases the viscosity after the feeding is started. Clinical features may suggest
with attendant complications like jaundice, hypoglycaemia, sepsis. Hypoglycaemia and metabolic acidosis are commonly
44 Hutchison's Paediatrics
found. If there is any family history of unexplained neonatal In addition, 35% of women exhibit biochemical abnor
death, diagnosis should be considered strongly. If the sepsis is malities during pregnancy consistent with gestational
unlikely in view of absence of risk factors, laboratory markers diabetes.
of infection, obtain blood samples for metabolic screen,
lactate and ammonia, urine specimen for organic acids and Abnormalities of Growth
amino acids and stop the feeds. Start the baby on dextrose This is believed to occur in 40% of these pregnancies, in the
infusion to correct hypoglycaemia. It may be necessary to form of LGA or SGA.
correct the acidosis and any electrolyte abnormality, treat
any seizures. It is prudent to start antibiotics until infection is Pedersons hypothesis for macrosomia: Result of maternal
ruled out and diagnosis is established. Liaison with metabolic hyperglycaemia Foetal hyperglycaemia Foetal
team will be very helpful. Once the diagnosis is established, hyperinsulinaemia Growth of insulin-sensitive tissues
parents should be informed about the diagnosis, prognosis Fat deposition and organomegaly Complications.
and referred to clinical geneticist who will be able to advise Macrosomia/Large for gestational age:
them on risk of recurrence in future pregnancies. The macrosomic baby is usually greater than 4,000
grams while the LGA baby is greater than 90th percentile
The Infant of a Diabetic Mother (IDM) weight for gestational age.
Diabetes in Pregnancy IDM accounts for less than 10% of LGA, but up to 60%
of IDM can be LGA, however.
Insulin-dependent diabetes: Maternal metabolism exists
from time of pregnancy, through to organogenesis and Small for gestational age: Mothers with renal or cardiac
beyond. diseases may have SGA or premature infants. These babies are
Gestational diabetes: Maternal metabolism is altered prone to poor foetal outcome, foetal distress or foetal death.
mostly in last half of gestation (sparing critical period of
organogenesis). Metabolic Disorders
This topic is important due to the associated morbidities Hypoglycaemia (<2.6 mmol/L): It is present in 2040%
below: of IDMs, most commonly in LGA. Usually within 0.52
1. Unexplained death hours after delivery.
2. Hypoglycaemia Foetal hyperinsulinaemia: Suddenly supply of glucose is
3. Respiratory distress syndrome disrupted.
4. Congenital anomalies Inability to mount adequate catecholamine and glucagon
5. Others (polycythaemia, hypocalcaemia, hypomagnesaemia, response.
hyper-viscosity syndrome)
6. Preterm delivery Clinical presentation:
7. Abnormalities of growth. Presents within 30 minutes to 2 hours of birth
Infant may have a wide range of symptoms and signs
Unexplained Death ranging from jitteriness, tachypnoea, cyanosis, apnoea
and seizures
Peri-natal mortality even with carefully managed DM is
If SGA is caused by decreased glycogen stores. It appears
approaching that of general population. And gestational
612 hours after delivery.
diabetes, even with euglycaemia has been associated with
stillbirth rate of 7.7/1,000 (compared with 4.8/1,000). Management:
The risk of congenital anomalies is high in IDM; this is Check serum glucose after birth
believed to be associated with the following factors: Determine severity with values and symptoms
Somatomedin inhibitors, genetic susceptibility, some Oral feeds, high calorie formula, intravenous 10%
unknown maternal factors and free oxygen radicals dextrose for maintenance
Others are altered metabolic fuels: Consider central line if hypertonic solution is used
Maternal hyperglycaemia Normal glucose infusion rate is 68 mg/kg per minute
Maternal hyperketonaemia Use glucagon may be necessary in extreme situations.
Maternal hypoglycaemia. Hypocalcaemia (<2.0): Incidence is up to 50%.
Incidence: Due to decreased function of the parathyroid glands. Lowest
Insulin-dependent diabetes occurs in 0.5% of all levels at 2472 hours of age. There is possible role for the
pregnancies effect of calcitonin.
Neonatal Paediatrics 45
Hypomagnesaemia (<7): Related to parathyroid hormone, Due to increased fat and glycogen deposition in the
as well as to maternal hypomagnesaemia (abnormal kidney myocardium.
function). May lead to congestive heart failure.
The common types of cardiac disorders are transposition
Clinical presentation:
of the great arteries with or without VSD, and coarctation
Similar to hypoglycaemia with or without VSD or patent ductus arteriosus. Others are
Presentation usually at 2472 hours. ASD and cardiomegaly.
Management
Haematological Disorders
Hypocalcaemia: 10% calcium gluconate 0.5 ml/kg per dose
(0.11 mmol/kg) slow IV with cardiac monitoring, then Hyperbilirubinaemia is usually secondary to prematurity,
maintenance IV 0.5 mmol/kg per day over 24 hours as immature liver enzymes and polycythaemia
The management involves the measurement of serum
infusion. It tends to resolve within 34 days of treatment.
bilirubin, blood group, Coombs
Hypomagnesaemia: 0.4 mmol/kg Mg2+ (100 mg/kg) The babies should have adequate hydration, with the
magnesium sulphate over 10 minutes 612 hourly as mainstay of treatment as phototherapy. Any underlying
necessary, IV or IM with cardiac monitoring and blood identified aetiology should be treated for example sepsis.
levels q/12 hourly.
Polycythaemia:
Perinatal asphyxia: Definition: Central spun Hct is greater than 65%
It occurs in up to 25% of infants of diabetic mothers This condition occurs in 2040% IDMs
This believed to be due to restricted intrauterine area It occurs due to increased levels of erythropoietin in IDM
and increased oxygen demand via hyperinsulinaemia and resulting in increased red blood cell production
inability of placenta to compensate. In itself can cause hypoglycaemia.
Respiratory Disorders Clinical presentation:
IDM will have system specific symptoms and signs
The incidence of respiratory distress is 3%. Transient
Renal venous thrombosis, which is rare, may be caused
tachyponea of the newborn, surfactant deficiency, cardiac
by, caused by hyperviscosity
disease and sepsis can affect the IDM in this way.
Disseminated intravascular coagulopathy may present
Respiratory distress syndrome occurs in 15% of IDM: with haematuria and abdominal mass.
Qualitative or quantitative deficiency of surfactant
Five-fold increase in infants of diabetic mothers Management:
Pathophysiology of surfactant deficiency: Adequate hydration
Hyperinsulinism affects lung maturation by FBC, coagulation screen, blood glucose
antagonising the action of cortisol. Serial Hct for at least 3 days
An L/S ratio of 3:1 can be used to determine surfactant Although partial exchange transfusion when the Hct is
maturity. greater than 70% or at lower level if symptomatic is
practiced in some centres, there is no convincing evidence
Clinical presentation of the benefit of long-term neurologic advantage.
Physical examination may show cyanosis, expiratory
grunting, tachypnoea, chest wall retractions, oedema. Shoulder dystocia:
Shoulder dystocia: Babys shoulder is stuck behind
Management
mothers pubic symphysis preventing delivery
Chest X-ray (CXR)
Erbs palsy: Stretch injury of C5C6 resulting from
Blood gases, culture, full blood count (FBC) and
downward force on the shoulder and lateral flexion of the
C-reactive protein
neck.
Cardiac evaluation if warranted
Oxygen therapy as needed Epidemiology:
Keep NPO until aetiology determined or improved. Shoulder dystocia occurs in 0.22% of non-diabetics,
60% of whom are LGA while 39% of Erbs palsy
Cardiac Disorders occurs in IDM, 85% of which are LGA
Hypertrophic cardiomyopathy may occur in up to 30% of The infants of a diabetic mother have increased fat
IDMs. deposition on shoulder and trunk.
46 Hutchison's Paediatrics
Clinical presentation of Erbs palsy: Delivery room: Physical examination for congenital
Paralysis of deltoid, infraspinatus and flexor muscles of anomalies, size for dates, respiratory distress.
forearm
Postnatal evaluation (age hours):
Forearm extended and internally rotated the function in
Plasma glucose:0.5, 1, 1.5, 2, 4, 8, 12, 24, 36 and 48
grasp maintained, but there is absent Moro reflex.
Calcium: 6, 24 and 48
Management: Magnesium: Check if calcium low
May X-ray arm bones to look for fractures Hb/Hct : 4, 24
Serial clinical examination is required on follow- Platelet count: 24
up. It usually heals without intervention, but early Bilirubin: Based on clinical jaundice
physiotherapy referral is recommended True blood glucose, FBC, CRP, microscopy/culture
If there is no improvement by 6 months referral to a joint Radiologic studies: If there is evidence of cardiac,
Erbs palsy team for assessment is advised. respiratory or skeletal problems
Echocardiography should be performed if hypertrophic
Congenital Anomalies cardiomyopathy or cardiac malformation is suspected.
Ten times commoner in the IDM as compared to the
Long-Term Complications
general population
Major anomalies occur in 58% of these pregnancies Obesityup to 50%
Most malformations nonspecific and nonchromosomal, Risk of subsequent type I diabetes by age 20 years at least
on average occurs in 6.4% of IDMs 7 times that of non-diabetic parents
Anomalies account for up to 50% of perinatal deaths Adverse neurodevelopment in 4% of cases, e.g. poor
involving the cardiovascular system, gastrointestinal psychomotor development, hyperactivity (may relate to
system and the bones. maternal ketosis, hypoxia, hypoglycaemia, seizures)
Iron deficiency (lower 9-month ferritin levels).
Skeletal and Central Nervous System
Caudal regression sequence Multiple Gestation
Skeletal defects: hemivertebrae Although multiple pregnancies can occur spontaneously, there
Neural tube defects excluding anencephaly is an increase in the incidence of multiple gestation partly due
Anencephaly with or without herniation of neural to treatment for infertility. Multiple gestation pregnancies
elements are associated with an increase in morbidity. These babies
Microcephaly. are more likely to be born preterm more so, with triplets and
quadruplets. Twinning is either monozygotic or dizygotic.
Gastrointestinal System If the zygote divides early, it results in two separate chorion
Duodenal atresia and amniotic sacs (dichorionic and diamniotic); division a
Anorectal atresia little bit later results in monochorionic and diamniotic twins
Small left colon syndrome. (single chorion but two amniotic sacs). If the separation occurs
much later, it results in monochorionic and monoamniotic
Renal twins (single amniotic sac).
Hydronephrosis There is also increased risk of twin-to-twin transfusion
Renal agenesis with increased morbidity and mortality for both the twins.
Ureteral duplication. Although twin-to-twin transfusion has been treated with
amnioreduction, laser ablation of placental vessels is
Others increasing available in specialised centres. Apart from
obstetric difficulties and increased caesarean section rate,
Single umbilical artery
there is also evidence of increased risk of neurodisability
Thromboembolic phenomenon (cerebral infarction, renal
(cerebral palsy) especially in monozygotic twins.
cortical and digital gangrene).
Some other problems are growth retardation and anaemia
Initial assessment: in donor twin, polycythaemia in the recipient twin, with
Prenatal: Ultrasound for size and anomalies, biophysical the attending risk of hyperviscosity syndrome, circulatory
profile, maternal HbA1c overload with cardiac dysfunction.
Neonatal Paediatrics 47
Maternal Substance and alcohol abuse adequate support for the family unit prior to and following
discharge from hospital.
This is increasingly becoming a significant problem in These babies are at increased risk of cot death. It is
developed countries. Consumption of significant amounts of important to deal with these parents in a sensitive way to
alcohol during pregnancy results in foetal alcohol syndrome avoid them feeling guilty, as some of these mothers would
spectrum disorders. Some recognised features are triangular have made efforts during pregnancy to discontinue or reduce
face, long philtrum and thin upper lip but these findings can medications during pregnancy, or have been in a supervised
be very subtle and difficult to recognise. The non-availability drug program, and they need support and understanding.
of specific test for diagnosis has further complicated this The authors recommend that the baby be vaccinated for
issue. The true incidence is, therefore, not known. These hepatitis B if mother is an intravenous drug user. In addition,
children may have learning difficulties and behavioural it is our policy to offer hepatitis B vaccination to all the
problems. It is important that alcohol consumption before babies born to mothers who are drug misusers irrespective of
conception and pregnancy is discouraged by increasing the whether their use intravenous or not.
awareness amongst youngsters and also by providing support
to quit drinking. This is an important public health message Neonatal sepsis
especially when it not clear that foetal alcohol spectrum
disorder is dose dependent. Infection in the neonatal period carries high mortality and
Babies born to mothers who are misusing opiates and morbidity and the neonates clinical course can deteriorate
other drugs may develop neonatal withdrawal symptoms. quite rapidly. Therefore, strong index of suspicion and
The term neonatal abstinence syndrome (NAS) is used for prompt action is required because the symptoms and signs
opiate withdrawal and neonatal drug withdrawal for other are nonspecific.
drugs. Cocaine use is associated with increased risk of Early onset sepsis (before 48 hours of age) is commonly
cerebral infarctions and NEC, in view of its vasoconstrictive due to organisms from maternal environment like GBS and
effects. Escherichia coli. Predisposing factors include like prematurity,
These neonates may present with irritability, tremulous prolonged rupture of membrane for greater than 18 hours,
ness, excessive crying, seizures, loose stools and perianal intrapartum maternal pyrexia, chorioamnionitis, positive
excoriation. maternal high vaginal swab for GBS. Whereas the signs and
It is important to rule out other conditions before labelling symptoms of sepsis are nonspecific, it is not uncommon for the
it as NAS, as these babies may have other pathologies just respiratory features to be indistinguishable from RDS. They
like any other ill baby. It is important, therefore, to exclude may require correction of clotting abnormalities, ventilatory/
infection, electrolyte abnormalities, low blood sugar, respiratory support and inotropes for hypotension. The use
low calcium and magnesium. In the presence of seizures, of benzylpenicillin and gentamicin is recommended to cover
intracranial haemorrhage and meningitis should be ruled out. for sepsis. Similarly, if there is any suspicion of listeriosis,
Upon diagnosis, symptoms should be managed as for as amoxicillin or ampicillin should be added.
possible by nonpharmacological measures like swaddling, The duration of antibiotics is dependent of the blood culture
minimal stimulation and regular feeds. Several scoring results, inflammatory markers and clinical improvement.
methods like Lipsitz are available to guide the initiation of Gestation is associated with the degree of immaturity of
pharmacological treatment and the monitoring of response. the immune system due to inadequate passively transmitted
Replacement with oral morphine sulphate is the authors first antibodies, which takes place in the last trimester of
choice when nonpharmacological measures are unsuccessful. pregnancy.
The dose is increased gradually to achieve symptom control. In a baby with suspected of sepsis, blood should be sent
At maximum dose of oral morphine, if symptoms persist, for blood culture, FBC and C-reactive protein. Lumbar
oral phenobarbitone is added. Chloral hydrate may be used puncture and suprapubic aspiration of urine for culture
for symptom control. and sensitivity are also recommended. Other acute phase
It is important to remember that lack of response may reactants, like ceruloplasmin, fibrinogen and transferring
be due to the use of multiple drugs during pregnancy. Some procalcitonin, are not routinely measured.
babies gain weight very poorly and many require an increased Group B streptococcal infection carries with it a high
amount of milk or high calorie milk. Feeding incoordination mortality and morbidity. Approximately 2530% women
is also a common problem. carry GBS in their genital tract. Although a significant
These social circumstances and lifestyle are not number of babies are colonised with these organisms at birth,
uncommonly challenging and chaotic, and this calls for most would have passively transferred antibodies from their
48 Hutchison's Paediatrics
There is increasing concern that the postnatal weight gain determine whether the infant is AGA (birth weight between
is also a risk factor for cardiovascular disease and diabetes 10th centile and 90th centile), SGA (birth weight < 10th
in adulthood. Emerging evidence suggests that either centile) or LGA (birth weight > 90th centile). This will help
LBW or rapid postnatal weight gain or the combination of us to decide nutritional management of the baby.
both may predispose to adverse long-term effects like the Our feeding policy encourages breast milk. Most of our
metabolic syndrome. Therefore, there may be a price to preterm babies are on either expressed breast milk alone,
pay at later stage in the form of higher likelihood of some expressed breast milk with fortifier or preterm formula
chronic adult diseases if the weight gain is either poor or (150200 ml/kg per day) or combination of both. Breast milk
excessive. fortifier may not be necessary if the baby is gaining weight
satisfactorily and should not be started routinely. The milk
What is Catch-up Growth and What is of the mother delivering a preterm baby often has relatively
Accelerated Growth? high protein content in the first 2 weeks of life. Fortification
Catch-up growth follows prior growth retardation, such as is best avoided until after 2 weeks after delivery. Growth
IUGR or postnatal nutritional insult. It involves moving chart should be updated every week and should be reviewed
up centiles and usually involves linear (bone) and muscle before changing any milk. Once the babys weight is 1,800
growth as well as accumulation of fat. This is desirable. 2,000 grams and is gaining weight (between 10th centile and
Rapid weight gain or accelerated growth may occur at any 90th centile), and then if the baby is on breast milk with
time as a result of excessive energy intake and represents the fortifier, stop the fortifier and continue breast milk or if on
acquisition of surplus adipose tissue with no acceleration of preterm formula, change the milk to term formula.
linear growth. This is undesirable. At the time of discharge, most of the babies in the
In contrast to body weight, reduced bone mineralisation neonatal unit who are on term formula or breast milk with a
generally improves rapidly during the first months of life. weight of 1,800 grams or more are discharged on the same
Between 6 and 12 months of age, bone mineralisation milk unless there are any concerns. If not, categorise the
of infants born preterm reaches values, adjusted for babies into one of the four groups and take the action based
anthropometric parameters, similar to healthy term infants as indicated below.
and appears appropriate for skeletal and body size achieved. 1. Infants with birth weight and a body weight at discharge
With all the controversies and evidence available, doctors appropriate for postconceptional age (appropriate
should aim for appropriate growth not excessive weight gain. growth).
There are different types of formulae milk for infant Discharge feed: Breast milk or term formula
feeding, such as term formula, preterm formula and nutrient-
2. Infants born AGA but with discharge weight below the
enriched formula. Doctors can also fortify breast milk. The
reference growth chart (postnatal growth restriction).
superiority, complexity and richness of human milk, with
Discharge feed: Following assessment and discussion
nutrients that meet specific requirements for development
breast milk with fortifier or preterm formula or nutrient-
and non-nutritional factors modulate neonatal adaptation,
enriched formula
provide protection and immune defence is finely tuned to
regulate infant growth. 3. Infants born SGA with a discharge weight still below the
Most formulae are based on bovine milk; their amino reference growth chart (IUGR).
acid and fatty acid profiles reflect the needs of calves. Discharge feed: Following assessment and discussion
Moreover they lack other non-nutritive factors found in breast milk with fortifier or preterm formula or nutrient-
human milk. Such deficiencies are associated with poorer enriched formula
neuron-cognitive development and intelligence quotients and 4. Infants born SGA with discharge weight appropriate for
enhanced risk for respiratory and enteric infections. Formula postconceptional age (early catch-up growth).
milk intake is determined by the mother or caregiver rather Discharge feed: Breast milk or term formula
than by infant demand as in breastfed baby. So breast milk is If the baby is discharged on nutrient-enriched formula,
preferred. it should be changed to regular formula at corrected post-
There is no definite evidence that post-discharge preterm conceptional age of 40 weeks or 52 weeks. If the baby
growth is higher in infants who receive nutrient-enriched is on nutrient-enriched formula, multivitamins or iron
formula milk compared to standard term formula. One study supplementation should be stopped.
found that the infants fed with standard term milk consumed If the baby is on any special formula, childs growth
more milk than those fed with high energy formula. should be regularly monitored and once weight gain is
For every baby, doctors should plot the birth weight, satisfactory, the milk should be changed to regular formula
length and head circumference against gestational age and and weight gain is monitored.
50 Hutchison's Paediatrics
Prevention
In developing countries, 90% of mothers deliver babies at
home without skilled health professional present. Simple
low-cost interventions, notably tetanus toxoid vaccination,
exclusive breastfeeding, counselling for birth preparedness,
breastfeeding promotion through peer counsellors and
womens groups, have been shown to reduce newborn
morbidity and mortality. Alcohol-based antiseptics for hand
hygiene are an appealing innovation due to their efficacy in
reducing hand contamination and their ease of use.
Medical Management The most effective strategies for preventing and treating
Maintain adequate oxygenation and ventilation. Avoid neonatal infections in developing countries is to devise simple,
hyperventilation. Keep O2 saturation greater than 90% inexpensive management strategies for reducing the morbidity
and pCO2 between 35 and 50 mm Hg and mortality of neonatal infections, risk factors, historical
Inotropes for maintenance of adequate blood pressure information, and clinical signs and symptoms predictive of
Fluid restriction to treat SIADH serious neonatal infections (pneumonia, sepsis and meningitis)
Delay gastric feeding until adequate gut perfusion is must be identified for use in first line healthcare facilities and
ensured at home by trained caregivers and healthcare workers.
Treat seizures if necessary with phenobarbital
Treat hypoglycaemia. The Role of Breastfeeding
A wide variety of benefits of breastfeeding have been
Prognosis well-documented, including reduced risk of hypothermia,
Prognosis can be predicted by recovery of motor function and hypoglycaemia, NEC, omphalitis, acute respiratory
sucking ability. There are case reports in the past established infections, diarrhoea, septicaemia and mortality, particularly
that babies who had suffered a severe and clear insult some in the late neonatal period. Although breastfeeding is
time before labour could be neurologically abnormal in common, immediate and exclusive breastfeeding, despite its
the neonatal period and end up with cerebral palsy. Early benefits, is not normal practice in many developing countries,
onset of seizures and use of multiple medications predict particularly for LBW newborns. Breastfeeding also provides
worse prognosis. Severely affected infants often require a variety of immune and nonimmune components that
gastrostomy tube for feeding and tracheotomy with home accelerate intestinal maturation, resistance to and recovery
ventilation (Table 3.4). from infection.
Neonatal Paediatrics 53
Table 3.4: Outcome associated with very low Apgar score (03)
Table 3.5: World Health Organizations recommended clinical criteria Table 3.6: Newborn danger signs of infection
for diagnosing sepsis and meningitis in neonates*
Breathing problems
Sepsis Meningitis
Feeding difficulties/unable to suck
Symptoms General signs
Cold body temperature/hypothermia
Convulsions Drowsiness
Fever
Inability to feed Reduced feeding
Redness swelling or pus around the cord
Unconsciousness Unconsciousness
Convulsions/fits
Lethargy Lethargy
Jaundice
Fever (more than 37.7C or feels hot) High pitched cry
Hypothermia Apnoea A randomised controlled trial of topical application of
(less than 35.5C or feels cold) sunflower seed oil to preterm infants in an Egyptian NICU
Signs Specific signs showed that treated infants had substantially improved skin
Severe chest indrawing Convulsions condition and half the risk of late onset infection.
Reduced movements Bulging fontanelle
Diagnosis
Crepitations and cyanosis
The danger signs are shown in Table 3.6.
* The more symptoms, a neonate has the higher the
probability of the disease
Investigations
Blood cultures (may be negative if antibiotics were
administered to the mother)
Urine cultures
CSF studies (protein, glucose, cell count and cultures)
Complete blood count with differential:
Immature to total neutrophil ratio greater than 30%
should raise suspicion of sepsis
A drop in platelet count is often a late sign
C-reactive protein is a nonspecific marker of infection
Chest X-ray to distinguish pneumonia from RDS
Hypoglycaemia
Metabolic acidosis.
Medical Treatment
Knowledge of the antimicrobial resistance patterns of
common neonatal bacterial pathogens is essential for planning
empiric antimicrobial therapy for the treatment of neonatal
Fig. 3.5: Pathogens involved in early neonatal infection is less than infections.
one week in hospitals of developing countries Currently, WHO recommends that acutely infected
neonates less than 2 months of age be treated in a healthcare
Role of Umbilical Cord and Skin Care facility capable of administering parenteral antibiotics (e.g.
benzylpenicillin or ampicillin plus, an aminoglycoside, such
Little is known, however, about traditional umbilical cord
as gentamicin). Every attempt should be made to deliver this
practices in the community. Application of antiseptics such
standard of care. Hospitalisation and parenteral treatment
as chlorhexidine, has been shown to be effective against both
gram-positive and gram-negative bacteria and shown in the of neonates, however, is not feasible in many communities.
community studies to reduce rates of cord infection and sepsis Thus alternative treatment strategies are needed, including the
in the newborn. In rural Pakistan, application of ghee heated feasibility and efficacy of therapy in the home and treatment
with cow dung to the umbilical stump was associated with with oral antibiotics. Guidelines for Integrated Management
neonatal tetanus, but in studies, in which topical antimicrobial of Childhood Illness (IMCI) have been widely implemented
agents were applied to promote wound healing, instead of as the main approach for addressing child health in health
ghee, suggests that promotion of antimicrobial applications as systems. Table 3.7 shows the antibiotic treatment of sepsis
a substitute for ghee might be an effective strategy. and meningitis.
Neonatal Paediatrics 55
Following the demonstration of significant reduction in Table 3.8: In a normal infant, the brain weighs about three times
neonatal mortality with the use of oral cotrimoxazole and more than the liver. In asymmetrical IUGR, the brain can weigh five
injectable gentamicin by community health workers this or six times more than the liver
strategy could be employed in circumstances where referrals Classification of IUGR
are difficult.
Symmetrical Asymmetrical
Prognosis The babys head and body are Babys brain is abnormally
proportionately small. May occur large when compared to the
Gram-negative sepsis has a high mortality rate. Associated when the foetus experiences liver. May occur when the
meningitis may result in long-term developmental abnormalities a problem foetus during early experiences a problem during
(e.g. hearing loss). development. later development
Table 3.9: Problems in low birth weight babies infants grow into adults with an increased risk of death from
Breathing problems ischaemic heart disease. Congenital malformations, peri-
natal asphyxia and transitional cardiorespiratory disorders
Hypothermia/Hypoglycaemia
contribute to the high mortality rate in term IUGR infants.
Feeding problems
Poor developmental outcome has been associated with
Infections IUGR that involved poor head growth (symmetric IUGR).
Jaundice Impairments of verbal outcome, visual recognition memory
Coagulopathy and general neurodevelopmental outcome have been found to
Polycythaemia be altered at and years. Cognitive disabilities are seen more
frequently than motor disabilities.
Diagnostic Strategies It is hoped that the recognition of the intrauterine growth
Clearly, from what has been said, the assessment of gestational restricted babies antenatally and in the neonatal period as a
age can be performed by doing complete history and physical special high-risk infant, and the prompt institution of both
examination to look for maternal, placental or foetal disorders therapeutic and prophylactic measures, will result in an
associated with impaired foetal growth (e.g. alcohol abuse, improved outlook for this group of growth restricted infants.
inherited or acquired thrombophilia, maternal vascular
disease). Additional imaging and laboratory evaluations are Congenital Malformations and
also directed toward determining an aetiology. Inherited Disorders
The birth prevalence of congenital anomalies in developing
Management countries is similar to that observed in developed countries.
The management strategies for growth restricted babies in the However, the health impact of birth defects is higher due to
developing countries would be their prevention by reducing a lack of adequate services for the care of affected infants,
teenage pregnancies, increasing the birth interval, improving and a higher rate of exposures to infections and malnutrition,
maternal nutrition, treating anaemia and prompt treatment although as a proportion of infant deaths, is greater in
of maternal infections. These measures would promote wealthier countries (Table 3.11).
significant increase in the birth weights and would break A number of successful measures for the prevention
the vicious cycle of growth-retarded females who become of congenital anomalies are being taken in a number of
stunted adults and produce growth-retarded babies. developing nations. Primary prevention programmes are
based on public education about preconceptional and prenatal
Prognosis risks. Prevention based on reproduction options includes
The preponderance of intrauterine growth-retarded infants teratogen information services and prenatal screening for
in the developing world related to the observation that such foetal anomalies.
Table 3.11: Major birth defects and inherited disorders Table 3.12: Complications associated with prematurity
in the developing world
Respiratory distress syndrome
Down syndrome
Hypothermia
Thalasaemia
Hypoglycaemia
Sickle cell disease
Haemorrhagic and periventricular white matter brain injury
G6PD deficiency
Bronchopulmonary dysplasia
Oculocutaneous albinism
Necrotising enterocolitis
Cystic fibrosis
Apnoea/Anaemia of prematurity
Phenylketonuria
Neural tube defects and hydrocephalus Table 3.13: Factors associated with RDS
Congenital heart disease Higher male incidence
Cleft lip and plate Caesarean section without labour
Developmental dysplasia of hip Second twin
Maternal diabetes
In addition, programmes for the detection of congenital
malformations at birth, followed by early treatment, Reports of RDS in developing countries are seldom an
are contributing to secondary prevention. Prevention of overall incidence from any one country but rather from various
congenital anomalies in the developing world requires: hospital studies. For reasons to be discussed this incidence may
Good epidemiological data on the prevalence and types increase with improvements in perinatal care. Largely, the
of birth defects and genetic disorders major determinant of the incidence of RDS is the proportion of
Educating health professionals in the goals and methods of deliveries which are preterm. Common pulmonary conditions
preventing birth defects at low cost but with high impact that need to be differentiated from RDS are transient tachypnoea
Expansion of family planning and improvement of of newborn, pneumonia, pneumothorax and PPHN. The
antenatal care combined with educational campaigns to factors associated with RDS are shown in Table 3.13.
avoid the risks for birth defects. The diagnosis of RDS is made from the combination
of clinical and radiological findings. It is rarely occurs
Prematurity over 38 weeks gestation. There is a tachypnoea, grunting,
Preterm birth refers to a birth that occurs before 37 completed retraction of chest wall in moderate to severe cases. Multiple
weeks (less than 259 days) of gestation. A very preterm birth randomised, controlled clinical trials indicate the benefits of
is generally defined as less than 32 weeks of gestation and surfactant replacement therapy, including reduction in the
late preterm between 34 and 37 weeks gestation. Preterm severity of RDS.
birth is the second leading cause of infant mortality, after The overall mortality of the RDS has now been reduced
congenital anomalies, and a major determinant of neonatal to between 5% and 10%. Up to 50% of babies weighing less
and infant morbidity. than 1.5 kg and who survive RDS will require readmission to
On the basis of an international disease classification a general paediatric ward within first year of life.
system, 61% of the early neonatal deaths were due to pre-
maturity or LBW in developing countries. It is difficult or Hypothermia and Hypoglycaemia
meaningless to compare the survival statistics of developed Hypothermia and hypoglycaemia may be prevented through
and developing countries when the latter have insufficient simple and inexpensive interventions. Risk factors for
facilities and equipment. Poor infection control results in hypoglycaemia include birth asphyxia, prematurity and
serious infections that rank very high as the cause of neonatal hypothermia. Hypothermia is common in developing
death in such countries. The complications associated with countries, affecting more than half of all newborns in many
prematurity are shown in Table 3.12. communities, and is associated with an increased risk of
mortality. Hypothermia also is associated with increased
Respiratory Distress Syndrome rates of morbidity, including increased risk of neonatal
infections, coagulation defects, acidosis, delayed foetal-to-
Respiratory distress syndrome (RDS) is a common cause of
newborn circulatory adjustment, hyaline membrane disease
neonatal mortality in many parts of the world. Developed
and IVH.
countries spend a vast expenditure on equipment, training
Hypothermia can be prevented by simple measures
and research for babies with RDS. Such expenditure would
such as ensuring a warm environment during delivery,
be inconceivable in developing countries.
58 Hutchison's Paediatrics
Table 3.14: Effects of hypothermia on babies the white matter brain injury is even more difficult to ascertain
Lethargy
as not all brain injuries are haemorrhagic but there is no doubt
that PVL is the most powerful predictor of cerebral palsy.
Poor feeding/weak cry
Peripheral oedema
Bibliography
Marked facial oedema (may give false impression of
healthy infant) 1. Adair LS, Popkin BM. Low birth weight reduces the like-
lihood of breastfeeding among Filipino infants. J Nutr.
Table 3.15: Classification of IVH (Volpe) 1996;126:103-12.
2. Bang AT, Bang RA, Baitule S, et al. Burden of morbidi-
Grade I Haemorrhage of germinal matrix ties and the unmet need for healthcare in rural neonatesa
Grade II Intraventricular haemorrhage without ventricular prospective observational study in Gadchiroli, India. Indian
dilatation Pediatr. 2001;38:952-65.
Grade III Intraventricular haemorrhage with ventricular 3. Bennett J, Ma J, Traverso H, et al. Neonatal tetanus associ-
dilatation ated with topical umbilical ghee: covert role of cow dung. Int
J Epidemiol. 1999;28:1172-5.
Grade IV Intraventricular haemorrhage with parenchymal
4. Bhutta ZA, Darmstadt GL, Hasan BS, et al. Community-
involvement
based interventions for improving perinatal and neonatal
health outcomes in developing countries: a review of the evi-
early breastfeeding and skin-to-skin contact with the dence. Pediatrics. 2005;115(2):519-617.
mother, proper bathing, drying and swaddling, and prompt 5. Christensson K, Ransjo-Arvidson AB, Kakoma C, et al. Mid-
identification and rewarming of hypothermic neonates. wifery care routines and prevention of heat loss in the new-
Basic knowledge and practice of thermal control, however, born: a study in Zambia. J Trop Pediatr. 1988;34:208-12.
generally are inadequate among healthcare providers and 6. Costello A, Manandhar D. Current state of the health of
newborn infants in developing countries. In: Costello A,
families in developing countries. The effects of hypothermia Manandhar D (Eds). Improving Newborn Health in Devel-
on babies are shown in Table 3.14. oping Countries. London: Imperial College Press; 2000. pp.
3-14.
Haemorrhagic and Periventricular White Matter 7. Ellis M. Birth asphyxia in developing countries: epidemiol-
Brain Injury [Periventricular Leukomalacia (PVL)] ogy, sequellae and prevention. London: Imperial College
The germinal matrix is a weakly supported and highly Press; 2000. pp. 233-72.
8. Huffman SL, Zehner ER, Victora C. Breastfeeding and Neo-
vascularised area that is prone to rupture upon fluctuations
natal Mortality. LINKAGES Projects, Washington, DC:
in cerebral blood flow. This condition remains the most Academy for Educational Development; 1999.
common cause of death in very LBW neonate ventilated for 9. Hyder AA, Morrow RH, Wali S, et al. Burden of Disease for
RDS. Most IVH occurs in the first 72 hours after birth. Neonatal Mortality in South Asia and Sub-Saharan Africa.
The incidence and severity of IVH is inversely Washington, DC: Save the Children Federation-US; 2001.
proportional to gestational age and rare after 32 weeks post- pp.1-93.
conceptional age. The development of large IVH is usually 10. Johanson RB, Spencer SA, Rolfe P, et al. Effect of post-
associated with subtle clinical deterioration in a ventilated delivery care on neonatal body temperature. Acta Paediatr.
1992;81:859-63.
child with increase in ventilatory support, anaemia, fall in
11. Moss W, Darmstadt GL, Marsh DR, et al. Research priori-
blood pressure, acidosis and neurological signs. Cranial ties or the reduction of perinatal and neonatal morbidity and
ultrasonography is the most frequent imaging modality used mortality in developing country communities. J Perinatol.
to diagnose IVH. The classification of IVH is shown in 2002;22(6):484-95.
Table 3.15. 12. Mutch L, Newdick M, Lodwick A, et al. Secular changes in
To date, no single intervention has been found to prevent re-hospitalization of very low birth weight infants. Pediatrics.
IVH although many approaches have been tried. Best 1986;78:164-71.
13. Newborn Care in South-East Asia Region (WHO/SEAR).
approach would be to minimise the hemodynamic instability
Report of Regional Expert Group Meeting. Delhi; 1998 (No-
during the perinatal period. Uncomplicated IVH has a good vember 16-17). p. 14.
prognosis. About 30% of infants with IVH went on to develop 14. Zaidi AK, Huskins WC, Thaver D, et al. Hospital-ac-
post-haemorrhagic ventricular dilatation and have the highest quired neonatal infections in developing countries. Lancet.
risk of adverse neurodevelopmental outcome. Prognosis for 2005;365(9465):1175-88.
margo L Whiteford
C H A P T E R
Paediatric Genetics 4
Introduction important to look for nongenetic factors which may offer
With the improvements in treatment of infectious diseases an explanation and allow a genetic cause to be excluded: for
in the developed world, conditions, which are either wholly instance a history of significant perinatal asphyxia in a child
or partially genetic in their aetiology, have become more with severe microcephaly and seizures or the ingestion of
prominent as a cause of childhood morbidity and mortality. It teratogens such as alcohol or antiepileptic medication during
is estimated that around one-third of admissions to paediatric pregnancy if a child has multiple congenital anomalies.
wards are due to conditions with some genetic component Care has to be taken when drawing family trees in
and therefore an understanding of basic genetic principles is order to get the correct information without causing offence
becoming increasingly important. or distress to the family. For instance, many parents feel
The field of medical genetics is an ever expanding one guilty if their child has been diagnosed with a genetically
and, within the context of this text it is not possible to cover inherited condition and worry that it may have been inherited
all areas of the speciality in detail. Instead, this chapter from their side of the family. In the developed world, it is
tries to provide enough basic genetic information to allow not unusual for a woman to have had children by several
understanding of the aspects of medical genetics encountered different partners and sensitivity must be used while
during day-to-day paediatric practice. obtaining this information. Similarly, in other populations,
In practice, clinical genetics does not differ from any other asking questions about consanguineous (related) marriages
speciality, in that the clinicians ability to make a diagnosis may also cause concern.
relies on the same skills, i.e. the ability to take a detailed Within the genetics clinic, family trees or pedigrees are
history, including pregnancy and family history, perform a usually drawn to at least three generations. An example of
physical examination, arrange appropriate investigations and various family trees is shown in Figure 4.1. The child, who
interpret the results. However, the emphasis may be slightly brings the family to medical attention is usually known as the
different with more time being taken over the family history proband with his parents being referred to as consultands.
and the physical examination may extend to other members By convention, males are represented by squares and are
of the family as well as the child who is the patient. drawn to the left of a couple and females are represented by
circles. Affected individuals are shaded in, while carriers
of recessive disorders and chromosome translocations are
HISTORY
half shaded and female carriers of X-linked disorders are
A detailed history of a childs illness is always required indicated by a central dot. Other commonly used family tree
when a child is seen as an outpatient or admitted to hospital. symbols are listed in Figure 4.1.
Obviously if a child is admitted acutely unwell then treating Well before people were interested in human genetics,
the current illness is paramount, but if a genetic cause for patterns of inheritance had been recognised both in animal
the illness is suspected it is important, once the childs breeding and plant crossing experiments. In the 19th century,
condition is stable, to return to asking questions about the Gregor Mendel was the first person to propose the idea of
childs previous health, growth and development in much recessive genes to explain why some traits appeared to skip
more detail. generations. Nowadays many patterns of inheritance are
In addition to trying to ascertain genetic factors which recognised and often by drawing a family tree it is possible
may have contributed to the childs illness it is equally to predict the risk to offspring of subsequent generations
60 Hutchison's Paediatrics
even in situations where no specific genetic diagnosis has Autosomal Recessive Inheritance
been made.
Typically autosomal recessive conditions only affect
individuals in one generation of a family [Fig. 4.1 (Family 2)]
PATTERNS OF INHERITANCE
but exceptions to this will occur when the carrier frequency
Autosomal Dominant Inheritance of the gene in a population is high, e.g. 1:10 people of
Caucasian origin are carriers of a haemochromatosis gene
With conditions which are autosomal dominantly inherited
mutation and therefore it is not uncommon for a person who
the condition typically appears to occur in all generations of
is affected by haemochromatosis to have a partner who is a
a family and males and females are equally affected [Fig.
4.1 (Family 1)]. The important point to note with dominantly carrier of the condition, resulting in the possibility of their
inherited conditions is that males can pass the condition to offspring also being affected. This phenomenon is known
their sons and this can be a useful feature for distinguishing as pseudodominance. Autosomal recessive conditions may
an autosomal dominant condition from an X-linked condition also occur in more than one generation of a family if there
where females are sometimes affected. are many consanguineous marriages within the family.
The clinical status of an individual is usually referred When both parents are carriers of an autosomal recessive
to as phenotype whereas their genetic constitution is the condition they will transmit the condition to 25% of their
genotype. Some autosomal dominant conditions are not children whether they are male or female and 50% of their
fully penetrant, which means that not all individuals, who children will be carriers. A person affected by an autosomal
inherit the mutant gene, will be clinically affected and recessive condition will have a low-risk of having an affected
others may be so mildly affected that the condition is not child, provided that their partner is not a relative and that the
immediately noticed. For this reason an autosomal dominant carrier frequency of the condition in the population is low.
condition may appear to skip a generation and then return.
Thus, when a condition is known to have variable penetrance
X-Linked Recessive Inheritance
it is important to exercise caution when determining the risk X-linked recessive conditions generally only affect males and
to the next generation, even when an individual has a normal never pass from father to son [Fig. 4.1 (Family 3)]. However,
phenotype. occasionally a female may be affected by an X-linked
Males and females affected by an autosomal dominant recessive condition if she only has one X-chromosome (as a
condition will transmit the condition to 50% of their sons and result of also having Turners syndrome), if she has a skewed
50% of their daughters. X-inactivation pattern (discussed later) or if she has inherited
Paediatric Genetics 61
A B
Figs 4.4A and B: Repaired neural tube defect in a girl who also has facial features of foetal valproate syndrome
(flat nasal bridge, hypertelorism, infraorbital crease, long smooth philtrum)
Fig. 4.5: Downs syndrome (trisomy 21) facial appearance Fig. 4.6: Ectrodactyly (split-foot)
of patterns of clinical features and symptoms. It is only with searching on a patients key clinical features it is possible to
experience that the more common syndromes become obtain a list of suggested diagnoses, which aids the direction
easily recognised and often it is a facial gestalt, i.e. overall of further investigations in order to confirm or exclude a
appearance, rather than individual features which suggests a particular diagnosis. Clinical features may be regarded as
likely diagnosis. For instance the child with Downs syndrome hard handles if they only occur with a small number of
(Fig. 4.5) is easily identified by people who have no medical conditions, e.g. ectrodactyly (Fig. 4.6), whereas features
knowledge, because it is a relatively common condition. such as single palmar creases and hypoplastic nails (Figs
It is impractical to memorise the features of hundreds of 4.7A and B) are soft signs, which occur with many different
genetic syndromes and modern day geneticists frequently genetic diagnoses. Features such as marked asymmetry of
use computerised dysmorphology databases to aid diagnosis. any part of the body (Fig. 4.8) or patchy abnormalities of
These databases contain information on the clinical features skin pigmentation are suggestive of mosaicism and a skin
of syndromes compiled from the published literature and by biopsy should be considered.
Paediatric Genetics 63
A B
Figs 4.7A and B: (A) Hypoplastic nails; (B) Single palmar crease
Cytogenetics
The study of chromosomes was perhaps the earliest branch
of medical genetics to develop, with Hsu and Levan being
the first to accurately observe human chromosomes in 1952
and the correct human chromosome number being recorded,
in 1956, by Tjio and Levan.
Chromosomes are the structures in the nucleus of the
cell into which DNA is packaged. In humans there are 46
chromosomes in all nucleated cells except the gametes. The
46 chromosomes occur as 23 pairs, with one copy of each pair
being inherited from the mother and the other from the father.
The first 22 pairs of chromosomes are the same whether an
individual is male or female and are known as autosomes
and the remaining pair are the sex chromosomes. Females
have two X sex chromosomes while males have one X and
one Y sex chromosome. The chromosome constitution of an
individual is usually referred to as their karyotype and the
normal karyotype for a female is denoted 46, XX and for a
Fig. 4.8: Asymmetry
male 46, XY.
Investigations The chromosomes can only be examined in dividing cells
and are best seen during the metaphase stage of mitosis. For
The diagnosis of many genetic disorders can be made on the this reason it usually takes around 1 week to get the result
basis of biochemistry results, e.g. sweat electrolytes in the of a chromosome test. Various staining techniques can be
case of cystic fibrosis or urinary glycosaminoglycans in the used to examine chromosomes with the light microscope
case of the mucopolysaccharidoses. Similarily, radiographs in order to show the banding pattern along the length of
are an essential tool for the diagnosis of inherited skeletal each chromosome. The stain most commonly used is Giemsa
dysplasias (discussed in Chapter 32). However, the investi which reveals dark and light regions of chromosomes rather
gations specific to the field of genetics are chromosome tests like a bar-code (Fig. 4.9) and by searching for variations in
64 Hutchison's Paediatrics
Pallister-Killian syndrome
Neurological features Profound learning disability, seizures profound hypotonia
Dysmorphic facial features General coarse appearance, high forehead, sparseness of hair in frontal region in infancy, hypertelorism,
epicanthic folds, flat nasal bridge, large mouth with down turned corners, macroglossia, abnormal ears
Other features Pigmentary skin anomalies, short neck, diaphragmatic hernia, supernumerary nipples
Robertsonian translocation, describes them as having 46 and can result in live born children with malformations or
chromosomes, but they will of course have three copies of learning disability arising from chromosomal imbalance.
the long arms of one of the chromosomes involved in the
translocation. Chromosomal Deletions and Duplications
Carriers of balanced translocations are at risk of having Deletions or duplications of chromosomal segments may
children with unbalanced chromosomes. The actual risk arise and most of these are unique to the individuals in whom
varies depending on: (a) the chromosomes involved in the they are identified. However, there are some regions of
translocationhighest when chromosome 21 is involved and chromosomes which are more prone to deletions or other
(b) the sex of the parent who is a carrierhigher when it rearrangements. These are termed subtelomeric if they
is the mother. It is important to recognise that all of the occur at the ends of the chromosomes and interstitial if they
children of a carrier of a 21:21 Robertsonian translocation, occur elsewhere. It is now clear that many of these recurrent
will be affected by Downs syndrome. rearrangements give rise to recognisable dysmorphic
syndromes (Table 4.3 and Fig. 4.16) and that some of the
Reciprocal Translocations variability in the features of these syndromes is due to the
A reciprocal translocation is the exchange of segments of size of the deletion and the number of genes which are
chromosomal material between nonidentical chromosomes, missing as a result.
usually two chromosomes are involved but complicated Many chromosomal deletions are visible when observing
exchanges between several chromosomes can occasionally chromosomes with the light microscope but others are too
occur. This is detected by there being a disruption to the small to be seen and require a specialised technique, called
normal banding pattern along the length of the chromosomes fluorescent in situ hybridisation (FISH) to be detected.
involved. FISH is basically a molecular genetic technique (discussed
Carriers of balanced reciprocal translocations are later) whereby a fluorescent probe is attached to the region
healthy but as they produce a proportion of chromosomally of interest of the chromosome. In the normal setting two
abnormal gametes they may present with infertility, fluorescent signals should be seen, i.e. one on each of the
particularly in males, or recurrent miscarriages. Sometimes chromosome pair, but if that particular region of chromosome
an individual will be identified as being a carrier of is deleted, only one signal will be seen. In practice two
balanced reciprocal translocation following the birth of different probes of different colours are usedone purely to
child with congenital malformations, dysmorphism or identify the particular chromosome of interest and the other
learning disability, if investigations reveal the unbalanced for the specific region (Fig. 4.17).
form of the translocation in the child. The birth of a live
born child with chromosomal imbalance arising from a Uniparental Disomy and Imprinting
reciprocal translocation, is more likely to occur if the length Uniparental disomy (UPD) is a relatively recently recognised
of the chromosomal segments involved in the translocation form of chromosome abnormality. It is defined as the
represent less than 5% of the overall length of all 46 inheritance of a pair of homologous chromosomes from one
chromosomes. parent, with no copy of that chromosome being inherited
Inversions Table 4.3: Chromosomal deletion syndromes
An inversion is the term used to describe a segment of Chromosome Syndrome
chromosome, which has broken away and then rejoined in segment
the same position but rotated through 180. If the inverted 4p16.3 Wolf-Hirschhorn syndrome
segment is confined to one arm of the chromosome it is 5p15.2 Cri-du-Chat syndrome
termed a paracentric inversion and if the segment spans 5q35 Sotos syndrome
the centromere it is termed a pericentric inversion.
7q11.23 Williams syndrome
Chromosomal inversions usually have no phenotypic
effect, but they interfere with meiosis and again may result 11p15.5 Beckwith-Wiedemann syndrome
in chromosomally abnormal gametes being produced. 13q14.11 Retinoblastoma
The chromosome abnormalities arising from paracentric 15q12 Angelman and Prader-Willi syndromes
inversions are unlikely to be compatible with survival 16p13.3 Rubinstein-Taybi syndrome
and are, therefore, more likely to result in recurrent early 17p11.2 Smith-Magenis syndrome
miscarriages. Pericentric inversions, on the other hand,
22q11.2 DiGeorge/Velocardiofacial syndrome
may result in small chromosomal deletions or duplications
68 Hutchison's Paediatrics
introns (intervening sequences). There are particular DNA The process of protein synthesis also involves several
codes which herald the start (TAG) and end of protein different steps, namely initiation, whereby the ribosome is
synthesis (TAA, TAG or TGA). Similarily, the dinucleotides assembled on the mRNA, elongation, where complimentary
GT and AG are found at the start and end of introns, tRNA molecules attach to each codon in turn, resulting in the
respectively. Other particular nucleotide codes, which may addition of amino acids to the growing peptide chain and
be some distance away from the first exon of a gene, are also finally termination when the polypeptide is released into the
important for protein synthesis and are known as promoter cytoplasm.
regions. Not surprisingly with such a complicated process, errors
The first stage of protein synthesis is known as (mutations) can arise and this results in the genetically
transcription and involves the processing of messenger inherited single gene disorders. There are various different
RNA (mRNA). DNA acts as a template for the production types of mutation and these are summarised in Table 4.5.
of mRNA and is read in a 5' to 3' direction. The process
is initiated by enzymes known as RNA polymerases, which Molecular Genetic Investigations
separate the strands of DNA. As with DNA replication Southern Blotting
the order of bases along the strand of mRNA, which is
produced, are complimentary to the original DNA bases. This is one of the older techniques used for DNA analysis,
The only difference between DNA and RNA is that the but it is still sometimes needed for detecting large genomic
backbone sugar is ribose rather than deoxyribose and in rearrangements, such as the large trinucleotide repeats which
RNA the base thymine is replaced by the base uracil. The can occur in patients with myotonic dystrophy. The Southern
primary transcript of mRNA, which is produced, contains blotting technique is labour intensive and it can take several
the entire DNA coding region, including introns and exons. weeks to obtain results when this process is used.
The mRNA then undergoes a number of processing steps,
which result in the introns being cleaved out and the exons Polymerase Chain Reaction
being spliced together (Fig. 4.20). Finally, the mRNA is For many single gene disorders polymerase chain reaction
modified by the attachment of various adenylic acids and (PCR) is now the method of choice for DNA analysis. This
protein molecules, which serve to protect the mRNA as it process allows the analysis of short sequences of DNA which
passes from the nucleus into the cytoplasm, in preparation have been selectively amplified and tests looking for common
for protein synthesis. recurring mutations, such as in cystic fibrosis, or known
DNA Sequencing
This type of testing reveals the specific sequence of bases within
a region of DNA and compares them to reference sequence
data in order to determine if any substitutions, deletions, etc.
have occurred. Much of this type of DNA testing is now
computerised but it can still take lengthy periods of time to
get results, particularly if the gene being investigated is large.
Molecular Cytogenetics
Fig 4.21: Array CGH
With advancing technology the distinction between
cytogenetic tests and molecular genetic tests is disappearing are likely be affected by the loss or gain of chromosomal
and more and more frequently molecular genetic techniques material.
are being used to detect chromosome abnormalities. The
two main techniques used are: (1) Multiple ligand probe
Single Gene Disorders
amplification (MLPA)This technique is a new high
resolution technique for detecting copy number variation of The clinical features of many of the single gene disorders
a large number of DNA segments simultaneously and it can, have been discussed in other chapters throughout this book,
therefore, be used to provide a rapid screen for deletions and but it may be useful to look at a few specific disorders from
duplications at a number of sites throughout the genome. For a genetics perspective.
instance it can be used to screen for very small chromosomal
deletions or duplications in children with learning disability Neurofibromatosis Type 1
and dysmorphism, in whom conventional cytogenetic testing
Neurofibromatosis type 1 (NF1) (von Recklinghausens
has failed to reveal any abnormality. (2) Array comparative
genomic hybridization (Array CGH)With this technique a disease) is one of the most common genetically inherited
DNA sample from the patient and a normal control DNA disorders, having an incidence of approximately 1:3,000. It
sample are labelled with different coloured fluorescent dyes occurs as a result of mutations in the NF1 gene on chromosome
(usually red and green) and spread onto a solid surface, which 17 and is essentially fully penetrant, although the phenotype
has previously been spotted with short stretches of DNA. The can be extremely variable. In around half of the affected
samples bind to these areas of DNA and where there is no individuals there is a family history of the condition and in
difference between the patient and control samples the spots the remainder the condition has occurred as a result of new
look yellow and where the patient has additional chromosomal mutations. The main clinical features are: caf au lait patches
material (i.e. a duplication) the spot looks red or is missing (Fig. 4.22) which are usually present by 5 years of age,
chromosomal material (i.e. a deletion) the spot looks green cutaneous neurofibromata, iris Lisch nodules and axillary and
(Fig 4.21). These spots are subsequently scanned and a groin freckling. Most affected individuals are shorter than
computerized analysis is carried out to determine the specific average and have larger than average head circumferences.
regions of chromosomal imbalance and assess which genes Mild to moderate learning difficulties are common. Regular
72 Hutchison's Paediatrics
Tuberous Sclerosis
Tuberous sclerosis complex (TSC) occurs with an incidence
of 1:5,0006,000. It can occur as a result of mutations in
two different genes, TSC1 (located on chromosome 9) and
TSC2 (located on chromosome 16). The condition is now
thought to be fully penetrant and recurrences which have
occurred when parents are apparently unaffected are now
recognised to be due to one of the parents having minimal
clinical features such as periungual fibromata (Fig. 4.24) and
the phenomenon of gonadal mosaicism, whereby one of
the parents is a carrier of the mutation only in their gametes.
TSC is a multisystem disorder with extreme variability in
the phenotype, even within one family. The clinical features
Fig. 4.22: Boy with neurofibromatosis type 1
are divided into major features (facial angiofibromata, ungual
and periungual fibromata, forehead plaques, hypomelanotic
macules, shagreen patches (connective tissue naevi),
multiple retinal hamartomata, cortical tubers, subependymal
nodules, subependymal giant cell astrocytomata, cardiac
rhabdomyomata, lymphangiomyomatosis and renal angio
myolipomata) and minor features (dental enamel pits,
hamartomatous rectal polyps, bone cysts, cerebral white
matter radial migration lines, gingival fibromata, non-renal
hamartomata, retinal achromic patches, confetti skin
lesions and multiple renal cysts). The clinical diagnosis is
based on the presence of two major or one major plus two
minor features. In the most severe cases TS can present with
Fig. 4.23: Plexiform neurofibroma infantile spasms and such children can remain profoundly
follow-up is required as a small proportion of people with NF1
develop more severe complications such as pseudoarthroses
(present from birth), plexiform neurofibromata of the head
and neck (usually present within the first year of life), optic
gliomata (usually present by 6 years of age), plexiform
neurofibromata of other parts of the body as seen in
Figure 4.23 (usually present before puberty) and scoliosis
(usually present between age 6 years to puberty).
In adulthood, other complications such as hypertension
(both essential and secondary to renal artery stenosis or
phaeochromocytoma) and malignant peripheral nerve sheath
tumours may also occur so follow-up is generally life long.
The NF1 gene is a very large gene and mutation analysis
is possible, but as NF1 can usually be easily diagnosed on
clinical grounds, genetic testing is rarely necessary. Fig. 4.24: Periungual fibroma in patient with tuberous sclerosis
Paediatric Genetics 73
handicapped with difficult to control seizures throughout their more common in adulthood long-term follow-up is required
lives. In milder cases mild to moderate learning disability from the time of diagnosis. The diagnosis of Marfans
may be present but some individuals affected by TS have syndrome in the past was mainly based on clinical features
completely normal intelligence. Regular follow-up is again but mutation analysis can now be used in combination with
important particularly with regard to the possibility of renal clinical features and in families where a mutation is identified
complications. prenatal diagnosis is possible.
Mutation analysis is available for both TSC1 and TSC2
and prenatal diagnosis is possible if a mutation is identified. Myotonic Dystrophy
as it passes from one generation to the next, resulting in (major cognitive dysfunction is unusual with adult onset
symptoms occurring earlier and with greater severity in disease but personality traits such as apathy, with marked
each successive generation. For this reason it is particularly daytime sleepiness and stubbornness are well-recognised)
important to take a detailed three-generation family history and endocrine problems (testicular atrophysometimes
as the older, more mildly affected relatives may only have resulting in male infertility, recurrent miscarriages, diabetes
single symptoms, such as cataracts or diabetes, which may mellitus, frontal balding).
otherwise be overlooked. Congenital myotonic dystrophy is a severe form the
The clinical features of DM1 are: muscle disease disorder and almost always occurs when the condition is
[muscle weakness and myotonia (difficulty in relaxing transmitted by the mother and generally only if the mother
the muscles after contraction)], GI tract symptoms (as has symptomatic disease. Affected neonates have profound
smooth muscle is also affected patients often complain of hypotonia and usually require prolonged ventilatory
constipation, colicky abdominal pain and problems with assistance. Survivors have learning disabilities in addition to
bowel control), cardiovascular disease (conduction defects the physical features of the disease.
may lead to sudden death), respiratory problems (alveolar
hypoventilation due to diaphragmatic and probably also a Bibliography
central component, post-anaesthetic respiratory depression 1. Rimoin DL, Connor JM, Pyeritz RE, Korf BR (Eds).
can be significant and care should be taken), ocular problems Principles and Practice of Medical Genetics, 5th edn.
(subcapsular cataracts and retinal abnormalities), CNS Edinburgh: Churchill Livingstone; 2007.
Tahmeed Ahmed, Zulfiqar Ahmed Bhutta, Krishna M Goel
C H A P T E R
Nutrition 5
PROTEIN-ENERGY MALNUTRITION AND from moderate malnutrition in the developing world.
MICRONUTRIENT DEFICIENCIES IN CHILDHOOD Malnutrition occurring as a result of chronic diseases such as
chronic kidney, liver or heart disease is known as secondary
Protein-energy Malnutrition malnutrition. Although lack of food and repeated infections
including diarrhoea and pneumonia are the immediate,
Protein-energy malnutrition (PEM) is one of the most
precipitating causes of malnutrition, the root causes are
common childhood illnesses. Almost 30% of under-five
political in nature interlaced with issues of social and gender
children in the developing world suffer from PEM. On a
inequity particularly of income and education (Fig. 5.1).
blueprint agreed to by all countries to overcome the pervasive
problems of poverty, malnutrition, diseases and inequity,
the United Nations has set the Millennium Development
Classification of PEM
Goals (MDGs) to be achieved by the year 2015. The non- PEM can be classified best on the basis of anthropometric
income poverty component of the MDG 1 is to reduce by measurements (comparing body weight and/or height/length
half the proportion of people suffering from hunger (and
malnutrition). The fourth MDG is to reduce by two-thirds
the mortality rate among under-five children. Neither of
these goals will be achieved unless meaningful and concerted
efforts are made to combat and control childhood PEM. The
prevalence of child malnutrition in countries of sub-Saharan
Africa is less than that in many countries in Asia, but it is
gradually increasing which is a matter of great concern.
Marasmus, a type of PEM characterised by wasting,
has been recognised for centuries. Hinajosa in Mexico
published the earliest account of kwashiorkor, a severe form
of PEM characterised by oedema, in 1865. The acuteness of
kwashiorkor has been the focus of attention of nutritionists
and as many as 70 names have been given to this condition in
different parts of the world. Cicely Willliams first introduced
the name kwashiorkor in 1935, which in the Ga language of
West Africa means the disease of the deposed child. This
literally refers to the child who develops oedema after being
weaned with starchy gruels following the birth of a sibling
who is breastfed.
Causes of PEM
Malnutrition due to primary lack of food and interplay
of infections is known as primary malnutrition, which is Fig. 5.1: Causes of child malnutrition
responsible for most of the 112 million children suffering (Source: The state of the world's children, 1998)
76 Hutchison's Paediatrics
with that of reference data of healthy children). The reference than 3 Z constitute severe underweight, severe stunting and
data so far used is the National Centre for Health Statistics severe wasting respectively.
(NCHS) median. The WHO has introduced a new standard in The Wellcome classification is a clinical classification for
2005, which is based on data of children from Asia, Africa, children admitted to a hospital or a nutrition unit. It is based
North and Latin America who were exclusively breastfed up upon WA and the presence or absence of nutritional. A child
to 6 months of age, and therefore is more representative of with a WA less than 60% and no oedema is said to have
a true standard for children globally. Weight-for-age (WA), marasmus while a child with WA greater than 60% and has
height-for-age (HA) and weight-for-height (WH) are the kwashiorkor. Marasmic kwashiorkor is the condition where
three anthropometric indices used in assessing nutritional WA is less than 60% and there is severe weight reduction,
status (Table 5.1). Classification according to WA is known gross wasting of muscle and tissue beneath the skin, stunting,
as Gomez classification. Classification by WH or by HA is and no characterised marasmus, usually seen in infancy. In
also called Waterlow classification. A low WA indicates a severe case, the body appears to have only skin and bones
undernutrition, a low WH wasting or acute malnutrition, with wrinkling of the skin, the head looks proportionately
while a low HA indicates stunting or chronic malnutrition. large, and the ribs are markedly visible (Table 5.2). Usually
Although assessment by WA involves the measurement of the child is irritable. Marasmus occurs as a result of severe
weight only and is convenient, a disadvantage of using WA deficiency of energy, protein, vitamins and minerals,
is that the age of children is not reliably known in many although the primary cause is inadequate energy intake.
communities. Wasting and stunting are commonly seen in
This deficiency often results when there is a decrease or
children between the ages of 1 year and 2 years, but by 34
absence of breastfeeding, feeding diluted milk formula or
years of age, children are more stunted than wasted. This
delay in introducing solid foods in the diet. In marasmus,
indicates that these children have stopped growing in height
the body generally adapts itself to the deficiency of energy
but may have a normal WH.
and protein. The muscles provide amino acids leading to
Nutritional status is also expressed in terms of standard
the production of adequate amounts of proteins including
deviation (SD) or Z score of an anthropometric index such
as WH. This score indicates deviation of a childs nutritional albumin and beta-lipoprotein. Adequate amounts of albumin
status from median reference values. and beta-lipoprotein prevent the development of oedema and
fatty enlargement of the liver in marasmus.
Individuals value Median value of reference Kwashiorkor, which occurs mostly in children 13 years
population of age, results from a deficiency of dietary protein and is
SD score=
SD value of reference population usually associated with an infection. However, Gopalan
in India did not find any difference in diets of children
Malnutrition is defined as less than 2 standard deviations developing marasmus or kwashiorkor. He emphasised that
from the median (<2 Z scores). WA, HA and WH less
the two conditions are interconvertible and the outcome
Table 5.1: Quantitative classification of PEM based on percentage of is determined not by the diet but by the childs response.
NCHS median reference values Marasmus according to C Gopalan is an adapted state and
Weight-for-age
Table 5.2: Differences between marasmus and kwashiorkor
Well-nourished 90120%
Factors Marasmus Kwashiorkor
First degree (mild undernutrition) 7589%
Age 1st year 2nd and 3rd years
Second degree (moderate undernutrition) 6074%
Weight-for-age < 60% 6080%
Third degree (severe undernutrition) < 60%
Weight-for-height Oedema +
kwashiorkor occurs when there is dysadaptation. Typically Appropriate feeding, micronutrient supplementation, broad-
there are skin lesions (pigmented or depigmented areas with spectrum antibiotic therapy and judicious use of rehydration
or without ulceration), scanty lustreless hair, an enlarged fluids (particularly intravenous fluids) are factors that can
fatty liver, loss of interest in the surroundings, and loss of reduce death, morbidity and cost of treatment of these
appetite. The oedema is usually noticed in the feet but can children. A severely malnourished child having any of the
also occur in other parts of the body. There is a decrease following features should be admitted to a nutrition unit
in blood albumin level, which is partly responsible for having appropriate facilities and trained staff or referred to a
development of oedema. Beta-lipoprotein is not produced in hospital. But these criteria are flexible and may be modified
adequate amounts, resulting in impaired transport of fat and according to local conditions, such as availability of trained
an enlarged fatty liver. staff and facilities. Criteria for referral of a child with SAM
The child with marasmic kwashiorkor has clinical to a hospital include:
findings of both marasmus and kwashiorkor. The child has Signs of circulatory collapsecold hands and feet, weak
oedema, a WA less than 60%, gross wasting and is usually radial pulse, not alert (may be due to severe dehydration
stunted. There may be mild hair and skin changes and an or septic shock)
enlarged, fatty liver. Convulsion/unconsciousness
A new term, severe acute malnutrition (SAM), is now Cyanosis of lips, tongue or finger tips
used to describe the acutely malnourished children (WHO). Inability to drink
A child is said to have SAM if any of the following is present: Chest indrawing
WH is less than 70% or less than 3 Z Fast breathing (60 breaths/min or more in an infant < 2
Bipedal oedema months, > 50/min in a child 2 months to 1 year, > 40/
Mid upper arm circumference (MUAC) less than 11 cm min in a child 15 years old)
(for children between the ages of 1 and 5 years). Wheezy breathing
Hypothermia (body temperature < 35.5C)
MANAGEMENT OF MILD OR MODERATE High fever (> 39.0C)
MALNUTRITION Very severe pallor or anaemia (haemoglobin < 5 g/dl)
Persistent diarrhoea (diarrhoea for > 14 days)
Mild and moderately malnourished (underweight or stunted) Persistent vomiting (> 3 episodes per hour)
children account for the major burden of malnutrition in Bloody mucoid stools
any developing country. Management of these children is, Loss of appetite
therefore, very important from a public health perspective. Severe vitamin A deficiency (VAD) or keratomalacia
These children are managed at the household and community Jaundice
levels. The focus is on counselling of parents on health and Purpura
nutrition education, care during common illnesses including Distended, tender abdomen
diarrhoea, micronutrient supplementation, and in many Age less than 1 year.
countries periodic deworming. A commonly used strategy
in developing countries is growth monitoring and promotion Evaluation of the Severely Malnourished Child
(GMP) where under-five children are weighed at regular
intervals and a package of interventions provided at the If the child with SAM is acutely ill and requires immediate
contacts. Potential strengths of GMP are that it provides treatment, details of the history and physical examination
frequent contact with health workers and a platform for child should be delayed. History-taking should include the
health interventions. However, the success of GMP depends following:
on how sincerely the programme is carried out. Usual diet given before the present illness
History of breastfeeding
FACILITY-BASED MANAGEMENT OF severe Food and fluids taken in the past few days
acute malnutrition Duration, frequency and nature of diarrhoea or vomiting
Time when urine was last passed
According to the World Health Organisation, a death rate Recent sinking of the eyes
of greater than 20% is unacceptable in the management of Duration and nature of cough
severely malnourished children, 1120% is poor, 510% is History of fever
moderate, 14% is good and less than 1% is excellent. The Contact with measles or tuberculosis
reason for the high death rates among severely malnourished Major past illness
children is believed to be faulty case management. Any deaths of siblings
78 Hutchison's Paediatrics
Milestones reached (sitting, standing, etc.) The body tries to convert it into ferritin, the storage form
Immunisations of iron. This uses up essential energy and amino acids.
Socioeconomic history. Therefore, iron should not be given during the acute
A thorough physical examination should be done, that phase of management of SAM.
includes:
Temperature (for diagnosing fever and hypothermia) Phases of Management of severe
Respiratory rate and type of respiration (for diagnosing acute malnutrition
pneumonia and heart failure)
The management of children with severe malnutrition can be
Signs of circulatory collapse (cold hands and feet, weak/ divided into three phases.
absent radial pulse, not alert)
Weight and height or length. Length is measured for Acute Phase
children aged less than 2 years, less than 85 cm tall or
those who cannot stand Problems that endanger life, such as hypoglycaemia (a
low blood glucose level) or an infection, are identified and
Hydration status
treated. Feeding and correction of micronutrient deficiencies
Pallor
are initiated during this phase. Broad-spectrum antibiotics
Oedema
are started. Small, frequent feeds are given (about 100 kcal/
Abdominal distension and bowel sounds
kg and 11.5 g protein/kg per day). The main objective of
Enlarged or tender liver, jaundice
this phase is to stabilise the child. Case fatality is highest
Vitamin A deficiency signs in eyes
during this phase of management, the principal causes being
Pus in eyes
hypoglycaemia, hypothermia, infection and water-electrolyte
Signs of infection in mouth, throat and ears imbalance. Most deaths occur within the first 12 days of
Signs of infection in and around the genital organs admission. This phase usually takes about 45 days.
Appearance of stools (consistency, presence of blood,
mucus or worms). Nutritional Rehabilitation Phase
Laboratory Investigations The aim of this phase is to recover lost weight by intensive
feeding. The child is stimulated emotionally and physically,
Laboratory tests are not essential for management. The and the mother is trained to continue care at home. Around
following tests should be done if facilities are available: 150250 kcal/kg and 35 g protein/kg are provided daily
Blood glucose if the child is not alert during this phase. Micronutrients, including iron, are
Haemoglobin if the child is severely pale continued. Treatment remains incomplete without health
Urine for pus cells if urinary tract infection is suspected and nutrition education of the mothers. This phase takes
X-ray chest if severe pneumonia or if tuberculosis (TB) 24 weeks if the criterion of discharge is WHZ 2 without
is suspected oedema.
Mantoux test if TB is suspected (an induration of > 5 mm
indicates a positive test in a severely malnourished child). Follow-up
for hypoglycaemia on admission or whenever lethargy, is high, and symptomatic hyponatraemia can occur with
convulsions or hypothermia are found. If blood glucose ReSoMal. Severe diarrhoea can be due to cholera or rotavirus
cannot be measured, all children with SAM should be infection, and is usually defined as stool output greater than 5
assumed to be are hypoglycaemic and treated accordingly. ml/kg per hour.
If the child is conscious and blood glucose is less than 3 Return of tears, moist mouth, eyes and fontanelle
mmol/L or 54 mg/dl give: appearing less sunken, and improved skin turgor, are signs
50 ml bolus of 10% glucose or 10% sucrose solution that rehydration is proceeding. It should be noted that many
(5 g or 1 rounded teaspoon of sugar in 50 ml or 3.5 severely malnourished children would not show these changes
tablespoons water), orally or by nasogastric (NG) tube. even when fully rehydrated. Continuing rapid breathing
Then feed starter diet F-75 (discussed in Step 7) every 30 and pulse during rehydration suggest coexisting infection
minutes for 2 hours (giving one quarter of the 2 hourly or overhydration. Signs of excess fluid (overhydration) are
feed each time). increasing respiratory rate and pulse rate, increasing oedema
Two hourly feeds, day and night for first 2448 hours and puffy eyelids. If these signs occur, fluids are stopped
(discussed in Step 7). immediately and the child reassessed after 1 hour. Intravenous
If the child is unconscious, lethargic or convulsing give: rehydration should be used only in case of shock, infusing
IV sterile 10% glucose (5 ml/kg) or 25% glucose (2 ml/ slowly to avoid overloading the heart.
kg), followed by 50 ml of 10% glucose or sucrose by NG
tube. Step 4: Correct Electrolyte Imbalance
Then give starter F-75 as above.
All severely malnourished children have excess body
Step 2: Treat/Prevent Hypothermia sodium even though serum sodium may be low. Deficiencies
of potassium and magnesium are also present and may take
If the axillary temperature is less than 35.0C or the rectal
at least 2 weeks to correct. Oedema is partly due to these
temperature is less than 35.5C:
imbalances and must never be treated with a diuretic, give:
Start feeding right away (or start rehydration if needed)
Extra potassium 34 mmol/kg per day
Rewarm the child by clothing (including head), covering
Extra magnesium 0.40.6 mmol/kg per day
with a warm blanket or placing the child on the mothers
When rehydrating, give low sodium rehydration fluid
bare chest (skin-to-skin) and covering them. A heater or
lamp may be placed nearby. During rewarming rectal (e.g. ReSoMal)
temperature should be taken 2 hourly until it rises to Prepare food without salt.
greater than 36.5C (half hourly if heater is used). The The extra potassium and magnesium can be prepared in
child must be kept dry and away from draughts of wind. a liquid form and added directly to feed during preparation
(Table 5.3 for a recipe for a combined electrolyte/mineral
Step 3: Treat/Prevent Dehydration solution).
The WHO-ORS (75 mmol sodium/L) contains too much Step 5: Treat/Prevent Infection
sodium and too little potassium for severely malnourished
children. They should be given the special rehydration In severe malnutrition the usual signs of infection, such
solution for malnutrition (ReSoMal) (Table 5.3). It is difficult as fever, are often absent, and infections often hidden.
to estimate dehydration status in a severely malnourished Therefore, give routinely on admission:
child. All children with watery diarrhoea should be assumed Broad-spectrum antibiotics
to have dehydration and given: Measles vaccine if child is greater than 6 months and not
Every 30 minutes for first 2 hours, ReSoMal 5 ml/kg immunised (delay if the child is in shock)
body weight orally or by NG tube, then If the child appears to have no complications give:
Alternate hours for up to 10 hours, ReSoMal 510 ml/kg Oral amoxycillin 15 mg/kg 8 hourly for 5 days.
per hour (the amount to be given should be determined by If the child is sick looking or lethargic or has complications
how much the child wants, and stool loss and vomiting). (hypoglycaemia, hypothermia, skin lesions, respiratory tract
F-75 is given in alternate hours during this period until or urinary tract infection) give:
the child is rehydrated. Ampicillin 50 mg/kg IM/IV 6 hourly for 2 days, then
After rehydration, continue feeding F-75 (discussed in oral amoxycillin 15 mg/kg 8 hourly for 5 days
Step 7). Gentamicin 7.5 mg/kg IM/IV once daily for 7 days.
If diarrhoea is severe then WHO-ORS (75 mmol If the child fails to improve clinically by 48 hours or
sodium/L) may be used because loss of sodium in stool deteriorates after 24 hours, a third-generation cephalosporin,
80 Hutchison's Paediatrics
Ingredient Amount
Recipe for ReSoMal
Water (boiled and cooled) 2L
WHO-ORS 1 L sachet
Sugar 50 g
Electrolyte/mineral solution (discussed below) 40 ml
ReSoMal contains approximately Na less than 45 mmol/L, K 40 mmol/L and Mg 3 mmol/L.
Recipe for electrolyte/mineral solution
Weigh the following ingredients and make up to 2,500 ml. Add 20 ml of electrolyte/mineral solution to 1,000 ml of milk feed.
g Molar content of 20 ml
Potassium chloride 224 24 mmol
Tripotassium citrate 81 2 mmol
Magnesium chloride 76 3 mmol
Zinc acetate 8.2 300 mmol
Copper sulphate 1.4 45 mmol
Water up to 2,500 ml
Note: Add selenium if available and the small amounts can be measured locally (sodium selenate 0.028 g) and iodine
(potassium iodide 0.012 g) per 2,500 ml.
Preparation: Dissolve the ingredients in cooled boiled water. Store the solution in sterilised bottles in the refrigerator to retard deterioration. Make
fresh each month and discard if it turns cloudy. If the preparation of this electrolyte/mineral solution is not possible and if premixed sachets are
not available, give K, Mg and Zn separately.
Potassium
Make a 10% stock solution of potassium chloride (KCl), 100 g in 1 litre of water
For oral rehydration solution, use 45 ml of stock KCl solution instead of 40 ml electrolyte/mineral solution
For milk feeds, add 22.5 ml of stock KCl solution instead of 20 ml of the electrolyte/mineral solution.
Magnesium
Give sterile magnesium sulphate (50% w/v) intramuscularly once daily (0.1 ml/kg up to a maximum of 2 ml) for 7 days.
Zinc
Prepare a 1.5% solution of zinc acetate (15 g zinc acetate in 1 litre of water). Give the zinc acetate solution orally, 1 ml/kg per day.
e.g. ceftriaxone 5075 mg/kg per day IV or IM once daily Vitamin A orally on day 1 (for age > 12 months, give
may be started with gentamicin. Ceftriaxone, if available, 200,000 International Unit (IU); for age 612 months,
should be the preferred antibiotic in case of septic shock or give 100,000 IU; for age 05 months, give 50,000 IU)
meningitis. Where specific infections are identified, add: unless there is definite evidence that a dose has been
Specific antibiotics if appropriate given in the last month. If the child has xerophthalmia,
Antimalarial treatment if the child has a positive blood the same doses of vitamin A are repeated on days 2 and
film for malaria parasites. 14 or on day of discharge.
If anorexia still persists, reassess the child fully, checking
Give daily for the entire period of nutritional rehabilitation
for sites of infection and potentially resistant organisms,
(at least 4 weeks):
and ensure that vitamin and mineral supplements have been
correctly given. Multivitamin supplements
Folic acid 1 mg/day (5 mg on day 1)
Step 6: Correct Micronutrient Deficiencies Zinc 2 mg/kg per day
All severely malnourished children have vitamin and mineral Copper 0.3 mg/kg per day
deficiencies. Although anaemia is common, do not give iron Iron 3 mg/kg per day but only when gaining weight (start
initially but wait until the child has a good appetite and starts after the stabilisation phase is over).
gaining weight (usually by the 2nd week), as giving iron can A combined electrolyte/mineral/vitamin (CMV) mix
make infections worse, give: for severe malnutrition is available commercially. This can
Nutrition 81
replace the electrolyte/mineral solution and multivitamin and heart failure, which can occur if children suddenly consume
folic acid supplements mentioned in Steps 4 and 6, but still huge amounts.
give the large single dose of vitamin A and folic acid on day
To change from starter to catch-up formula:
1, and iron daily after weight gain has started.
Replace F-75 with the same amount of catch-up formula
Step 7: Start Cautious Feeding F-100 every 4 hours for 48 hours then
Increase each successive feed by 10 ml until some
During the stabilisation phase a cautious approach is required feed remains uneaten. The point when some remains
due to the childs fragile physiological state and reduced unconsumed after most feeds is likely to occur when
capacity to handle large feeds. Feeding should be started intakes reach about 30 ml/kg per feed (200 ml/kg per
as soon as possible after admission. WHO-recommended day).
starter formula, F-75, contains 75 kcal/100 ml and 0.9 g
protein/100 ml (Table 5.4). Very weak children may be fed If weight gain is:
by spoon, dropper or syringe. Breastfeeding is encouraged Poor (5 g/kg per day), the child requires full reassessment
between the feeds of F-75. A recommended schedule in for other underlying illnesses, e.g. TB
which volume is gradually increased, and feeding frequency Moderate (510 g/kg per day), check whether intake
gradually decreased is: targets are being met, or if infection has been overlooked
Good (>10 g/kg per day), continue to praise staff and
Days Frequency Vol/kg per feed Vol/kg per day mothers.
12 2 hourly 11 ml 130 ml
35 3 hourly 16 ml 130 ml
Step 9: Provide Sensory Stimulation
and Emotional Support
67+ 4 hourly 22 ml 130 ml
In severe malnutrition, there is delayed mental and behavioural
If intake does not reach 80 kcal/kg per day despite development. Just giving diets will improve physical growth
frequent feeds, coaxing and reoffering, give the remaining but mental development will remain impaired. This is
feed by NG tube. improved by providing tender loving care and a cheerful,
Criteria for increasing volume/decreasing frequency of stimulating environment. The play sessions should make use
F-75 feeds: of toys made of discarded material.
If vomiting, lots of diarrhoea or poor appetite, continue 2
hourly feeds Step 10: Prepare for Follow-up After Recovery
If little or no vomiting, modest diarrhoea (less than 5 A child who has achieved WHZ 2 SD can be considered
watery stools per day), and finishing most feeds, change to have improved. At this point, the child is still likely to
to 3 hourly feeds have a low WA due to stunting. Good feeding practices and
After a day on 3 hourly feedsif no vomiting, less sensory stimulation should be continued at home. Parents or
diarrhoea and finishing most feeds, change to 4 hourly caregivers should be counselled on:
feeds. Feeding energy and nutrient-dense foods
In case of SAM infants less than 6 months old, feeding Providing structured plays to the children
should be initiated with F-75. During the nutritional To bring the child back for regular follow-up checks
rehabilitation phase, F-75 can be continued and if possible Ensure that booster immunisations are given
relactation should be done. Ensure that vitamin A and antihelminthic drugs are given
every 6 months.
Step 8: Achieve Catch-up Growth
During the nutritional rehabilitation phase feeding is TREATMENT OF COMPLICATIONS
gradually increased to achieve a rapid weight gain of greater
Shock in Severely Malnourished Children
than 10 g gain/kg per day. The recommended milk-based
F-100 contains 100 kcal and 2.9 g protein/100 ml (Table Shock may be due to severe dehydration or sepsis, which
5.4). Modified porridges or modified family foods can be can coexist and difficult to distinguish from one another.
used provided they have comparable energy and protein Children with dehydration will respond to IV fluids while
concentrations. those with septic shock and no dehydration may not.
Readiness to enter the rehabilitation phase is signalled by Emergency treatment is started with:
a return of appetite, usually about one week after admission. Oxygen inhalation
A gradual transition is recommended to avoid the risk of Sterile 10% glucose (5 ml/kg) IV
82 Hutchison's Paediatrics
If you have cereal flour and cooking facilities, use one of the top three recipes for F-75:
Alternatives Ingredient Amount for F-75
If you have dried skimmed milk Dried skimmed milk 25 g
Sugar 70 g
Cereal flour 35 g
Vegetable oil 30 g
Mineral mix* 20 ml
Water to make 1,000 ml 1,000 ml**
Dried whole milk 35 g
Sugar 70 g
If you have dried whole milk Cereal flour 35 g
Vegetable oil 20 g
Mineral mix* 20 ml
Water to make 1,000 ml 1,000 ml**
Fresh cows milk, or full-cream 300 ml
(whole) long life milk
If you have fresh cows milk or full-cream (whole) long life milk Sugar 70 g
Cereal flour 35 g
Vegetable oil 20 g
Mineral mix* 20 ml
Water to make 1,000 ml 1,000 ml**
If you do not have cereal flour, or there are no cooking facilities, use one of the following recipes No cooking is required for F-100
for F-75:
Alternatives Ingredient Amount for F-75 Amount for F-bo
If you have dried skimmed milk Dried skimmed milk 25 g 80 g
Sugar 100 g 50 g
Vegetable oil 30 g 60 g
Mineral mix* 20 ml 20 ml
Water to make 1,000 ml 1,000 ml** 1,000 ml**
If you have dried whole milk Dried whole milk 35 g 110 g
Sugar 100 g 50 g
Vegetable oil 20 g 30 g
Mineral mix* 20 ml 20 ml
Water to make 1,000 ml 1,000 ml** 1,000 ml**
If you have fresh cows milk or full-cream Fresh cows milk or full-cream (whole) long life 300 ml 880 ml
(whole) long life milk milk
Sugar 100 g 75 g
Vegetable oil 20 g 20 g
Mineral mix* 20 ml 20 ml
Water to make 1,000 ml 1,000 ml** 1,000 ml**
* The optimal interval between doses is four to six months. A dose should not be given too soon after
previous dose of vitamin A supplement: the minimum recommended interval between doses for the
prevention of vitamin A deficiency is one month (the interval can be reduced in order to treat clinical
vitamin A deficiency and measles cases).
** Important note about adding water: Add just the amount of water needed to make 1,000 ml of formula
(This amount will vary from recipe to recipe, depending on the other ingredients). Do not simply add 1,000
ml of water, as this will make the formula too dilute. A mark for 1,000 ml should be made on the mixing
container for the formula, so that water can be added to the other ingredients up to this mark
Nutrition 83
for providing daily minimal needs for vitamin A. Food Studies show that vitamin A does not have any negative
fortification, for example, sugar in Guatemala, has been effect on seroconversion of childhood vaccines. As well as
shown to adequately maintain population level vitamin A routine immunisation services, NIDs for polio eradication,
status, especially for high-risk groups and needy families. measles and multiantigen campaigns have been used safely
Combining the administration of vitamin A supplements and successfully to provide vitamin A to a wide age range of
with immunisation is an important part of this effort. Since children at risk.
1987, WHO has advocated the routine administration There is a well-established scientific basis for the
of vitamin A with measles vaccine in countries where treatment of measles cases with vitamin A supplementation
VAD is a problem. Great success and many millions of that is recommended by WHO as part of the integrated
children have been reached by including vitamin A with management of childhood illness. The recommended doses
National Immunisation Days (NIDs) to eradicate polio. of vitamin A supplementation for the prevention of VAD are
High-dose vitamin A should be avoided during pregnancy indicated in the Table 5.5.
due to the theoretical risk of teratogenesis (birth defects).
From a programmatic perspective, high-dose vitamin A Iron Deficiency in Childhood
supplementation must occur during the safe infertile period Iron is an important dietary mineral that is involved in various
immediately after delivery. Accordingly, high-dose vitamin A bodily functions, including the transport of oxygen in the
supplementation can be provided safely to all postpartum blood, essential in providing energy for daily life. Iron is also
mothers within 6 weeks of delivery, when the chance of vital for brain development. Infants, toddlers, preschoolers
pregnancy is remote. For breastfeeding mothers, the safe and teenagers are at high-risk of iron deficiency, mainly
infertile period extends up to 8 weeks after delivery. The because their increased needs for iron may not be met by their
first contact with the infant immunisation services provides
diets. Without intervention, a child whose dietary intake is
an excellent opportunity to supplement postpartum mothers
inadequate in providing enough iron or has excessive losses
and improve the vitamin A content of their breast milk.
through the intestine, e.g. with hookworm infestation, will
Provision of vitamin A supplements every 46 months
eventually develop iron deficiency (Table 5.6).
is an inexpensive, quick and effective way to improve
vitamin A status and save childrens lives. The Beaton Causes of Iron Deficiency in Children
Report concluded that all-cause mortality among children
aged 659 months was reduced by 23% through vitamin A Major risk factors for the development of iron deficiency in
supplementation in areas where VAD was a public health children include:
problem. However, comprehensive control of VAD must 1. Prematurity and low birth weight (LBW)
include dietary improvement and food fortification in the 2. Exclusive breastfeeding beyond 6 months
long-term. 3. Introduction of cows milk as the main drink before 12
Immunisation contacts offer unrivalled opportunities for months
delivering vitamin A to children who suffer from deficiency. 4. High intake of cows milk
All mothers irrespective of their mode of infant feeding up to 6 weeks BCG, OPV-0 or DTP-1 contact up 200,000 IU
postpartum if they have not received vitamin A supplementation after delivery to 6 weeks
Table 5.6: Iron requirements and recommended iron intakes by age and gender group
5. Low or no meat intake and poor quality diet in the 2nd Avoidance of cows milk or other fluids that may displace
year of life iron-rich solid foods before 12 months of age.
6. Possible gastrointestinal diseases including coeliac disease Timely introduction of good quality complementary
and persistent diarrhoea. foods at 6 months of age and promotion of iron and zinc
Infants, children and teenagers greatly increase their iron containing foods (especially minced meat, liver, poultry,
requirements during the period of rapid growth spurts, which etc.).
also increase their need for iron. If affordable, fortified baby cereals may also be used
along with pureed fruit and vegetables. Vitamin C helps
Signs and Symptoms the body to absorb more iron, so make sure your child
The signs and symptoms of iron deficiency anaemia in has plenty of fruit and vegetables.
children can include: In vegetarian populations, offer good sources of non-
Behavioural problems haeme iron like peas, broccoli, spinach, beans, etc.
Recurrent infections In populations at high-risk of nutritional anaemia,
Loss of appetite other strategies such as the use of sprinkles with
Lethargy microencapsulated iron may also help prevent and
Breathlessness treat anaemia. However, care must be exercised when
Increased sweating using iron supplements in malaria endemic areas as iron
Strange food cravings (pica) like eating dirt supplementation may increase morbidity and risk of
Failure to grow at the expected rate. hospitalisation.
Excessive intakes of tea and coffee may interfere with
Preventive and Therapeutic Strategies iron absorption and should be avoided in children.
Prevention and treatment of infections is an important
Suggestions to prevent or treat iron deficiency in babies less
strategy for anaemia prevention as infection is a frequent
than 12 months of age include the following measures:
underlying cause of mild anaemia in children.
Eating an iron-rich diet during pregnancy. Red meat is
the best source of iron.
Zinc in Child Health
Regular use of iron folate supplements in pregnancy to
ensure adequate iron stores. Zinc is widely recognised as an essential micronutrient with
Delayed cord clamping at birth, especially in preterm a catalytic role in over a 100 specific metabolic enzymes in
infants to ensure adequate transplacental transfer of blood human metabolism. The role of zinc in human health has been
and iron supplies. recognised for almost half a century with the discovery of
Exclusive breastfeeding for the first 6 months with the the syndrome of zinc deficiency, delayed sexual development
possible introduction of iron drops in preterm or LBW and growth failure among adolescents in Iran. Zinc is one of
infants by 34 months of age. the most ubiquitous of all trace elements involved in human
Nutrition 87
metabolism and plays multiple roles in the perpetuation of benefit on linear growth. Subsequent trials in Bangladesh
genetic material, including transcription of DNA, translation have likewise found greater weight gain among severely
of RNA and ultimately cellular division. It is thus critical to malnourished inpatients who received supplemental zinc
understand the role of zinc in health and disease, especially (10 mg/kg per day up to a maximum of 50 mg/day) during
during the vulnerable periods of growth and development. the course of nutritional rehabilitation.
Unlike other essential micronutrients such as iron and However, there have been relatively fewer reports of
vitamin A, there are no conventional tissue reserves of zinc a positive effect of zinc supplementation on childrens
that can be released or sequestered quickly in response linear growth during recovery from severe malnutrition
to variations in dietary supply. It is recognised that the perhaps related to the duration of supplementation and
equivalent of approximately one-third (~ 450 mg) of total pre-existing zinc status. A recent meta-analysis of 33
body zinc exchanges between the blood stream and other randomised intervention trials evaluating the effect of zinc
tissues. The major source of zinc intake is through diet, with supplementation on the growth of pre-pubertal children
the transcellular uptake occurring in the distal duodenum concluded that zinc supplementation produced highly
and proximal jejunum, potentially facilitated by specific significant positive responses in linear growth and weight
transporters. The intestine also serves as the major conduit gain (mean effect sizes of 0.300.35 SD units), with
for zinc elimination from the body with almost 50% of the comparatively greater growth responses in children with
daily zinc losses occurring in the gut. However much of low initial WA or HA Z scores.
the zinc that is secreted into the intestine is subsequently
reabsorbed, and this process serves as an important point Effect of Zinc on Diarrhoea
of regulation of zinc balance. Other routes of zinc excretion Given the association and biological plausibility of the
include the urine, which accounts for approximately 15% role of zinc in intestinal mucosal injury and recovery, a
of total zinc losses, and epithelial cell desquamation, sweat, number of randomised controlled trials have demonstrated
semen, hair and menstrual blood, which together account for significant reduction in the incidence and duration of
approximately 17% of total zinc losses. acute and persistent diarrhoea in zinc-supplemented
Table 5.7 indicates the average daily requirements for children compared to their placebo-treated counterparts.
zinc from a variety of diets. A pooled analysis of randomised, controlled trials of zinc
supplementation performed in nine low-income countries in
Growth and Development
Latin America and the Caribbean, South and Southeast Asia
Given the multiple metabolic roles of zinc and the earlier and the Western Pacific, demonstrated that supplemental
reports of the clinical association of zinc deficiency, there zinc led to an 18% reduction in the incidence of diarrhoea
has been considerable interest in the potential growth and a 25% reduction in the prevalence of diarrhoea. While
benefits of zinc. Although the primary mechanisms whereby the pooled analysis did not find differences in the effect of
zinc influences growth are uncertain, there is a large body zinc by age, baseline serum zinc status, presence of wasting
of literature indicating that zinc depletion limits growth or sex, the relevance of zinc supplementation to various
and development. These include several studies of zinc geographic regions of the world remained unclear. Recent
supplementation among LBW infants in developing countries studies from Africa using zinc supplementation in young
indicating significant benefits on weight gain and some children indicate significant benefit on diarrhoea burden
Table 5.7: Estimated average requirement (EAR) for zinc by life stage and diet type
indicating that the effect may be consistent across various intervention strategies to address this at scale. There is a real
geographical regions and even if zinc is administered with need for large effectiveness trials in representative settings
oral rehydration solution. Recent studies in Bangladesh of that may help understand and develop mechanisms for the
using zinc in the treatment of diarrhoea in a community use of zinc in health systems in a replicable and sustainable
setting have also demonstrated substantial reduction in manner. Presently the most effective strategies for improving
concomitant use of antibiotics by healthcare providers, thus zinc status are improved maternal nutrition in pregnancy,
suggesting that there may be additional benefits to the use exclusive breastfeeding, dietary diversification during the
of zinc in the treatment of diarrhoea. It is also anticipated weaning period and the use of zinc for the treatment of
that the forthcoming World Health Assembly will also diarrhoea.
ratify a joint UNICEF-WHO statement that will strongly
endorse the use of zinc supplements in young children with
diarrhoea. Bibliography
1. Ahmed T, Ali M, Ullah M, et al. Mortality in severely
Respiratory Infections malnourished children with diarrhoea and use of a standardised
Despite advances in the recognition and management of management protocol. Lancet. 1999;353:1919-22.
acute respiratory infections (ARIs), these account for over 2. Ahmed T, Begum B, Badiuzzaman, et al. Management
20% of all child deaths globally. In preventive trials of zinc of severe malnutrition and diarrhoea. Indian Journal of
supplementation, a significant impact has been shown on the Pediatrics. 2001;68:45-51.
incidence of acute lower respiratory infections. The recent 3. Beaton GH, Martorell R, LAbb, et al. Effectiveness of
vitamin A supplementation in the control of young child
pooled analysis of trials conducted in India, Jamaica, Peru and
morbidity and mortality in developing countries. UN, ACC/
Vietnam indicated an overall 41% reduction in the incidence
SCN State-of-the-art Series, Nutrition Policy Discussion
of pneumonia among zinc-supplemented children. More
Paper No. 13, 1993.
recently, the administration of zinc to children hospitalised
4. Bhutta ZA, Ahmed T, Black RE, et al. What works?
with pneumonia in Bangladesh has been shown to reduce the
Interventions for maternal and child undernutrition and
severity and length of hospitalisation. survival. Lancet. 2008;371:417-40.
5. Bhutta ZA. Effect of infections and environmental factors
Malaria
on growth and nutritional status in developing countries. J
The benefits of zinc supplementation on the severity of Pediatr Gastroenterol Nutr. 2006;43:S13-21.
disease and outcome of malaria are less straightforward. 6. Bhutta ZA. The role of zinc in child health in developing
Bates et al. administered 70 mg zinc twice weekly for 18 countries: taking the science where it matters. Indian Pediatr.
months to children in Gambia and were able to show 32% 2004;41:429-33.
reduction in clinic visits due to Plasmodiam falciparum 7. Collins S. Treating severe acute malnutrition seriously. Arch
infections. Similarly a trial undertaken in Papua New Guinea Dis Child. 2007;92:453-61.
among pre-school children indicated a 38% reduction in 8. Jones G, Steketee RW, Black RE, et al. How many child
clinic visits attributable to P. falciparum parasitaemia as well deaths can we prevent this year? Lancet. 2003;362:65-71.
as heavy parasitaemia. In contrast, a recent trial in Burkina 9. WHO/UNICEF/IVACG. Vitamin A supplements: a guide
Faso did not find any reduction in episodes of falciparum to their use in the treatment and prevention of vitamin A
malaria among children who received daily supplementation deficiency and xerophthalmia, 2nd edition. Geneva: World
with 10 mg zinc for 6 months. This variable effect of zinc in Health Organization; 1997.
10. World Health Organization. Management of the child with a
malarial areas may be related to an impact on the severity of
serious infection or severe malnutrition. Guidelines for care at
disease rather than the incidence.
the first-referral level in developing countries. Geneva: World
Health Organization; 2000 (WHO/FCH/CAH/00.1).
Preventive and Therapeutic Strategies
11. World Health Organization. Management of Severe
Although there is considerable potential for zinc for Malnutrition: a Manual for Physicians and other Senior
improving child health in public health settings, there are few Health Workers. Geneva: World Health Organization; 1999.
Nutrition 89
well past the age of 18 months, although this delay can also
occur in hypothyroidism, hydrocephalus and even in some
healthy children. Another deformity affecting the bony thorax
results in Harrisons grooves. These are seen as depressions
or sulci on each side of the chest running parallel to but above
the diaphragmatic attachment. This sign, however, may also
develop in cases of congenital heart disease, asthma and
chronic respiratory infections. Laxity of the spinal ligaments
can also allow the development of various spinal deformities
such as dorsolumbar kyphoscoliosis. In children who have
learned to stand there may be an exaggerated lumbar lordosis.
The severely rachitic child will also be considerably dwarfed.
Pelvic deformities are not readily appreciated in young
children but in the case of girls can lead to severe difficulty A B
during childbirth in later years. The pelvic inlet may be Figs 5.5A and B: (A) Florid rickets showing splaying and fraying of
narrowed by forward displacement of the sacral promontory, ends of the long bones and (B) Radiograph of the same case as in
rickets had healed
or the outlet may be narrowed by forward movement of the
lower parts of the sacrum and of the coccyx. and only returns to normal with effective treatment. It is,
in fact, a very sensitive and early reflection of rachitic
Radiological Features activity but can be raised in a variety of unrelated disease
The normally smooth and slightly convex ends of the long states such as hyperparathyroidism, obstructive jaundice,
bones become splayed out with the appearance of fraying or fractures, malignant disease of bone and the battered
cupping of the edges. The distance between the diaphysis baby syndrome. The mean 25-OHD3 levels in healthy
and the epiphysis is increased because the metaphysis consists British children are 30 nmol/L (12.5 mg/L), although
largely of nonradiopaque osteoid tissue. Periosteum may considerably greater concentrations are reported from the
be raised due to the laying down of osteoid tissue, and the USA. In children with active rickets, the level of 25-OHD3
shafts may appear decalcified and curved. In the worst cases, may fall below 7.5 nmol/L (3 mg/L). However, it is not
greenstick fractures with poor callus formation may occur. possible to equate the presence of rickets with particular
The earliest sign of healing is a thin line of preparatory absolute values for 25-OHD3, although its measurement
calcification near the diaphysis (Figs 5.5A and B) followed can provide the most sensitive index of the vitamin D status
by calcification in the osteoid just distal to the frayed ends of of a population. Plasma 1,25(OH)2 D can also be measured
the diaphysis. In time both the ends and shafts of the bone but is a specialised investigation.
usually return to normal.
Differential Diagnosis
Biochemical Findings Few diseases can simulate infantile rickets. In hypo
Typical findings are a normal plasma calcium concentration phosphatasia, some of the clinical and radiological features
(2.252.75 mmol/L; 911 mg/100 ml) whereas the plasma resemble those seen in rickets, but their presence in the early
phosphate (normally 1.62.26 mmol/L; 57 mg/l00 ml) weeks of life exclude vitamin D deficiency. Other features
is markedly reduced to between 0.64 and l mmol/L (23 such as defective calcification of the membranous bones of the
mg/100 ml). The normal plasma calcium in the presence skull, low plasma alkaline phosphatase and hypercalcaemia
of diminished intestinal absorption of calcium is best are never found in rickets. The characteristic features of
explained on the basis of increased parathyroid activity, achondroplasiashort upper limb segments, large head with
which mobilises calcium from the bones. Plasma phosphate relatively small face and retrouss nose, trident arrangement
diminishes due to the phosphaturia, which results from of the fingers, lordosis, waddling gait and X-ray evidence
the effects of parathyroid hormone on the renal tubules. of endochondral ossificationare unmistakably different
A plasma calcium x phosphorus product (mg per 100 from anything seen in rickets. The globular enlargement
ml) above 40 excludes rickets, while a figure below 30 of the hydrocephalic skull is quite distinct from the
indicates active rickets. This formula is useful in clinical square bossed head of severe rickets. The bone lesions of
practice but it has no real meaning in terms of physical congenital syphilis are present in the early months of life
chemistry. The plasma alkaline phosphatase activity and are associated with other characteristic clinical signs
(normal 56190 IU/L) is markedly increased in rickets such as rashes, bloody snuffles, hepatosplenomegaly and
92 Hutchison's Paediatrics
lymphadenopathy. In later, childhood the sabre-blade tibia Even major deformities will disappear with adequate
of syphilis shows anterior bowing and thickening which treatment in the young child and surgical correction is rarely
is different from rachitic bowing. Some healthy toddlers required. The child should be kept from weight-bearing until
show an apparent bowing of the legs due to the normal X-rays show advanced healing, to prevent aggravation of the
deposition of fat over the outer aspects; this is unimportant deformities. The parent of a rachitic child requires education
and temporary, and there are no other signs of skeletal in nutrition and childcare. They should be urged to take the
abnormality. Other normal young children have a mild and child, after treatment, for regular supervision by their family
physiological degree of genu valgum due to a mild valgus doctor or at a local child health clinic.
position of the feet; in rachitic genu valgum, there will
be other rickety deformities. Other types of rickets due Key Learning Point
to coeliac disease and renal disease must be excluded by Children receiving pharmacological doses of vitamin D or its
appropriate investigations. Their existence is almost always analogues should have their plasmacalcium level checked
indicated in a carefully taken history. at intervals of once or twice a week because excessive
supplementation may cause hypercalcaemia.
Prevention
It is important to keep a degree of awareness of the problem Vitamin C (Ascorbic Acid) Deficiency
of rickets, as the feeding pattern of many adolescents in
inner city areas would indicate that they are unaware and/ Aetiology
or unconcerned of the need to ensure an adequate vitamin The primary cause is an inadequate intake of vitamin C
D status for themselves and for their children. Departments (ascorbic acid), a vitamin that the human unlike most other
of health are striving hard to maintain a public awareness of animals is unable to synthesise within his own body. It is
the importance of nutrition to health and through the supply rare in the breastfed infant unless the mother has subclinical
of vitamin D fortified foods are endeavouring to prevent avitaminosis C. Cows milk contains only about a quarter of
the recrudescence of this preventable disorder. The United the vitamin C content of human milk and this is further reduced
States Institute of Medicine estimates adequate intakes by boiling, drying or evaporating. Scurvy is particularly
(AI) of vitamin D for those with no sun-mediated synthesis common in infants who receive a high carbohydrate diet.
in the skinfor ages 050 years (including pregnancy and The suggested recommended dietary allowance is 35 mg/
lactation), the AI is 5 mg/day. day.
Treatment Pathology
Although rickets can be healed by exposure to UV light it Vitamin C deficiency results in faulty collagen, which
is more practicable and reliable to administer vitamin D in affects many tissues including bone, cartilage and teeth. The
adequate dosage by mouth. Nutritional deficiency of vitamin intercellular substance of the capillaries is also defective.
D is best treated with cholecalciferol or ergocalciferol. A This results in spontaneous haemorrhages and defective
suitable dose is 1,6002,000 IU orally (1 mg calciferol ossification affecting both the shafts and the metaphyseo-
= 40,000 IU). This can be achieved using the BP or a epiphyseal junctions. The periosteum becomes detached from
proprietary concentrated preparation. Although calcium the cortex and extensive subperiosteal haemorrhages occur;
deficiency per se very rarely has caused rickets there should these explain the intense pain and tenderness, especially of
be an adequate amount of calcium in the infants diet (approx the lower extremities.
600 mg/day). This is contained in l pint (600 ml) of milk per
day. An alternative method of treatment, especially useful Clinical Features
where it is suspected that the parents are unreliable and Increasing irritability, anorexia, malaise and low-grade fever
unlikely to administer a daily dose of vitamin D, is the oral develop between the ages of 7 months and 15 months. A most
or intramuscular administration of a massive dose of vitamin striking feature is the obvious pain and tenderness which the
D (Stoss therapy, 300,000600,000 IU). It is, however, infant exhibits when handled, e.g. during napkin changing.
uncertain how much of such a large dose the body can utilise The legs are most severely affected and they characteristically
although rapid healing of rickets can be confidently expected. assume a position (frog-position) in which the hips and
Some children are unusually sensitive to vitamin D and a rare knees are flexed and the feet are rotated outwards. Gums
condition with elfin facial appearance, William syndrome become swollen and discoloured and may bleed; this is seen
can occur. only after teeth have erupted and the teeth may become
Nutrition 93
Radiological Features
The diagnosis is most reliably confirmed by X-rays. The
shafts of the long bones have a ground-glass appearance
due to loss of normal trabeculation. A dense white line
of calcification (Fraenkels line) forms proximal to the
epiphyseal plate and there is often a zone of translucency due
to an incomplete transverse fracture immediately proximal
to Fraenkels line. A small spur of bone may project from
the end of the shaft at this point (the corner sign). The Fig. 5.6: Radiograph from a case of infantile scurvy in the healing
epiphyses, especially at the knees, have the appearance of stage with calcified subperiosteal haematoma. Note also ringing of
being ringed by white ink. Subperiosteal haemorrhages epiphyses, Fraenkels white lines and proximal zone of translucency
only become visible when they are undergoing calcification of vitamin C or alternatively some obsessive parents boil fruit
but a striking X-ray appearance is then seen (Fig. 5.6). juices, which would normally supply adequate vitamin C to
the child, but the act of boiling destroys the ascorbic acid.
Diagnosis
Measurement of vitamin C in serum and leukocytes is the VITAMIN B DEFICIENCIES
common means of assessing vitamin C status. For practical
purposes, measurement of vitamin C in serum is preferred The B vitamins are widely distributed in animal and vegetable
over leukocyte measurement. Measurement of urinary foods. Deficiency of one of the B group vitamins is commonly
vitamin C in patients suspected of scurvy can provide associated with deficiencies of the others. The main functions
supportive diagnostic information. There are no reliable of B vitamins are as cofactors for metabolic processes or
functional tests of vitamin C. as precursors of essential metabolites. Deficiencies occur
when there is severe famine, where there are dietary fads,
Key Learning Points where diets are severely restricted or where there has been
Vitamin C deficiency manifests as scurvy.
inappropriate preparation of the food. Many B vitamins are
Vitamin C status is assessed by plasma and leukocyte
destroyed by cooking.
concentrations.
Thiamine (Vitamin B1) Deficiency
At intakes above 100 mg/day the vitamin is excreted quanti
tatively with intake in the urine. Thiamine, as are all the B vitamins, is water soluble and
There is little evidence that high intakes have any beneficial readily destroyed by heat and alkali. It is necessary for
effects, but equally there is no evidence of any hazard from mitochondrial function and for the synthesis of acetylcholine.
high intakes. It is present in a wide variety of foods but deficiency states
have been particularly common in communities where
polishing rice and refining flour has removed the vitamin B
Treatment and Prevention containing husks. Beriberi is now rare in the countries where
The most rapid recovery can be obtained with oral ascorbic it was originally describedJapan, Indonesia and Malaysia.
acid, 200 mg per day. There is no advantage in parenteral
administration. Excess vitamin C is excreted in the urine and Clinical Features
there is no evidence that vitamin C is in any way poisonous. In Deficiency of thiamine (beriberi) causes clinical
developed countries, the usual cause of vitamin C deficiency is manifestations in the nervous and cardiovascular systems
ignorance of the parents of the need to supply adequate amounts predominantly although all tissues are affected. There is
94 Hutchison's Paediatrics
degeneration of peripheral nerve fibres and haemorrhage and a number of B group deficiency states namely cheilosis,
vascular dilatation in the brain (Wernicke encephalopathy). glossitis, keratitis, conjunctivitis, photophobia and lacri
There can be high output cardiac failure and erythemas. Signs mation. Cheilosis begins with pallor, thinning and macera
of the disease develop in infants born to thiamine deficient tion of the skin at the angles of the mouth and then
mothers at the age of 23 months. They appear restless with extends laterally. The whole mouth may become reddened
vasodilatation, anorexia, vomiting and constipation and pale and swollen and there is loss of papillae of the tongue.
with a waxy skin, hypertonia and dyspnoea. There is peripheral A normochromic, normocytic anaemia is secondary to
vasodilatation and bounding pulses with later development of, bone marrow hypoplasia. There may be associated with
hepatomegaly and evidence of cardiac failure. This is due to seborrhoeic dermatitis involving the nasolabial folds
a combination of the peripheral vasodilatation and decreased and forehead. Conjunctival suffusion may proceed to
renal flow. This is known as the wet form of beriberi. proliferation of blood vessels onto the cornea.
There is reduction of the phasic reflexes at knee and ankle.
In older children dry beriberi or the neurological Diagnosis
complication of thiamine deficiency results in paraesthesia Urinary riboflavin excretion of less than 30 mg per day is
and burning sensations particularly affecting the feet. characteristic of a deficiency state. There is reduction of red
There is generalised muscle weakness and calf muscles are cell glutathione reductase activity.
tender. Tendon reflexes may be absent, a stocking and glove
peripheral neuritis develops and sensory loss accompanies the Treatment
motor weakness. Increased intracranial pressure, meningism
and coma may follow. Riboflavin is present in most foods although the best sources
are milk and milk products, eggs, liver, kidney, yeast
Key Learning Points extracts and fortified breakfast cereals. However, riboflavin
The classical thiamine deficiency disease beriberi, affecting the is unstable in UV light, and after milk has been exposed to
peripheral nervous system, is now rare. sunlight for 4 hours, up to 70% of riboflavin is lost.
Thiamine status is assessed by erythrocyte transketolase In childhood, the daily requirement for riboflavin is 0.6
activation coefficient. mg per 4.2 mJ (1,000 kcal) and treatment of a deficiency state
requires 10 mg oral riboflavin daily. In some circumstances,
riboflavin 2 mg three times per day can be given by
Diagnosis intramuscular injection until there is clinical improvement.
There are few useful laboratory tests although in severe
deficiency states the red blood cell transketolase is reduced Key Learning Points
and lactate and pyruvate may be increased in the blood, Riboflavin deficiency is relatively common.
particularly after exercise. Phototherapy for neonatal hyperbilirubinaemia can cause
iatrogenic riboflavin deficiency.
Treatment
The usual thiamine requirement is 0.5 mg per day during Pellagra (Niacin Deficiency)
infancy and 0.71 mg daily for older children. Pregnant and
Niacin is the precursor of nicotinamide adenine dinucleotide
lactating women should have a minimal intake of 1 mg per
(NAD) and its reduced form NADP. It can be synthesised
day. Treatment of B1 deficiency is 10 mg per day for infants
from tryptophan and pellagra tends to occur when maize,
and young children increasing to 50 mg per day for adults. In
which is a poor source tryptophan and niacin, is the staple
the infant with cardiac failure intravenous or intramuscular
diet. Niacin is lost in the milling process. Communities
thiamine (100 mg daily) can be given. The response can at
where millet, which has a high leucine content, is consumed
times be dramatic. There is no evidence of any toxic effect of
also have a high incidence of pellagra.
high intakes of thiamine, although high parenteral doses have
been reported to cause anaphylactic shock. Clinical Features
Riboflavin (Vitamin B2) Deficiency The classical triad for pellagra is diarrhoea, dermatitis and
dementia although in children the diarrhoea and dementia are
Clinical Features less obvious than in the adolescent and adult. There is light-
Deficiency is usually secondary to inadequate intake sensitive dermatitis on exposed areas, which can result in
although in biliary atresia and chronic hepatitis there may blistering and desquamation of the skin. On healing the skin
be malabsorption. Clinical features are those common to becomes pigmented (Fig. 5.7). The children are apathetic
Nutrition 95
Clinical Features
Pyridoxine deficiency states result in convulsions, peripheral
neuritis, cheilosis, glossitis (as in riboflavin deficiency),
seborrhoea and anaemia and impaired immunity. The anaemia
is microcytic and is aggravated when intercurrent infections
complicate the clinical picture. There may be oxaluria
with bladder stones, hyperglycinaemia, lymphopaenia and
decreased antibody production.
Fig. 5.7: Pellagracasals necklace on the neck
Diagnosis
and disinterested and feed poorly due to an associated
glossitis and stomatitis. There is increased xanthurenic acid in the urine after an oral
dose of the amino acid tryptophan. Glutamine-oxaloacetic
Diagnosis acid transaminase is reduced in the red cells.
The two methods of assessing niacin deficiency are Treatment
measurement of blood nicotinamide nucleotides and the
urinary excretion of niacin metabolites, neither of which is The usual requirements for non-pyridoxine dependent
wholly satisfactory. individuals are 0.5 mg per day in infancy and 1 mg per day
in children.
Treatment
Vitamin B12 Deficiency
The normal requirement for niacin in infancy and childhood
is 810 mg per day when the tryptophan intake is adequate. If maternal vitamin B12 status is satisfactory the reserves of
Deficiency states can be treated with up to 300 mg per day B12 in the term newborn infant should last throughout the
given orally but care must be taken, as large doses will first year of life especially if the infant is breastfed. Dietary
produce flushing and burning sensations in the skin. There deficiency of vitamin B12 is unusual except amongst the strict
is almost always other associated vitamin B deficiencies and vegans who consume neither milk nor eggs. Absorption of
these should be supplied during the treatment of pellagra. B12 requires a gastric intrinsic factor (IF), which promotes
Due to the intimate involvement of the three major B vitamins absorption in the terminal ileum. Deficiency of IF, secondary
described in intermediary metabolism the requirement is to gastric achlorhydria is rare in childhood. It has been
best determined in relation to energy intake. Recommended reported secondarily to the development of gastric parietal
intakes on this basis are: thiamine 0.4 mg per 4.2 mJ (l00 cell antibody but this is extremely rare. Familial pernicious
kcal); riboflavin 0.55 mg per 4.2 mJ and niacin 6.6 mg per anaemia is secondary to a series of autosomal recessively
4.2 mJ. inherited defects in B12 metabolism or in the function of B12
binding proteins. Resection of the terminal ileum or Crohns
Vitamin B6 (Pyridoxine) Deficiency disease will predispose children to B12 deficiency unless B12
supplementation is given.
Vitamin B6 occurs in nature in three forms: (1) pyridoxine, (2)
pyridoxal and (3) pyridoxamine, which are interconvertible
Clinical Features
within the body. The principal one in the body and in food
is pyridoxal. Pallor, anorexia and glossitis are common features.
There may be inadequate intake of dietary pyridoxine Paraesthesia with loss of position and vibration sense is a
when there is prolonged heat processing of milk and cereals disorder of adolescence rather than childhood. There is a
or when unsupplemented milk formulae or elemental diets megaloblastic anaemia with neutropaenia, thrombocytopaenia
are used. There can be inadequate absorption in coeliac and hypersegmentation of polymorphonuclear leukocytes.
disease and drug treatment with isoniazid, penicillamine and The bone marrow shows a megaloblastic, erythroid picture
oral contraceptives will aggravate deficiency states. with giant metamyelocytes.
96 Hutchison's Paediatrics
The neurological signs of subacute combined degeneration disease folate deficiency is common. In some situations
of the cord with peripheral neuritis; degeneration of the where the small intestine is colonised by bacteria (blind
dorsal columns and corticospinal tract is a late phenomenon loop syndrome), folate is diverted into bacterial metabolism.
as is retrobulbar neuropathy. Some anticonvulsants and antibacterial agents either increase
the metabolism of folate or compete with folate.
Diagnosis
Serum vitamin B12, normal levels range from 200 pg/ml Clinical Features
to 900 pg/ml or over 150 pmol/L. Deficiency is indicated Megaloblastic anaemia and pancytopaenia together with poor
by values below this. Elevated serum or urinary excretion growth are the result of the cessation of cell division, which
of methylmalonate and raised plasma homocysteine are the comes about when nucleoprotein formation is interrupted due
other biochemical tests indicating low B12 status. Schilling to the lack of synthesis of purines and pyrimidines.
test is used to confirm the diagnosis of pernicious anaemia.
It measures oral absorption of vitamin B12 labelled with Diagnosis
radioactive cobalt on two occasions, the first without and the
The blood picture is one of a megaloblastic anaemia with
second test with IF.
neutropaenia and thrombocytopaenia. The neutrophils
Key Learning Point
contain large hypersegmented nuclei and bone marrow is
hypercellular due to erythroid hyperplasia. Although the
Dietary deficiency of vitamin B12 occurs only in strict vegans;
reticulocyte count is low nucleated red cells appear in the
there are no plant sources of the vitamin B12.
peripheral blood. Red cell folate measurements are less than
75 ng/ml and it gives a better idea of cellular status. There
Treatment is a close interaction of B12 and folic acid in the synthesis
In the rare instance of dietary deficiency oral supplementation of tetrahydrofolate and formyltetrahydrofolate, which are
is satisfactory. Where there is inadequate absorption required for purine ring formation. With isolated folate
intramuscular injections, initially of 1 mg per day reducing deficiency, there are none of the neuropathies associated with
to 1 mg at 3 monthly intervals in the light of clinical the megaloblastic anaemia of B12 deficiency.
improvement is the usual management in older children and
adolescents. Hydroxocobalamin has completely replaced Treatment
cyanocobalamin as the form of vitamin B12 of choice for Response to treatment with oral or parenteral folic acid
therapy; it is retained in the body longer than cyanocobalamin 25 mg per day is usually rapid. If there is a combined folate
and thus for maintenance therapy can be given at intervals of and B12 deficiency folic acid alone may cure the megaloblastic
up to 3 months. Treatment is generally initiated with frequent anaemia but the subacute combined degeneration of the cord
administration of intramuscular injections to replenish the will persist until B12 is given. In order to reduce the risk
depleted body stores. of neural tube defect, it is recommended that all women
should ensure an intake of 0.4 mg folic acid/day from before
Folate Deficiency conception and throughout pregnancy. Any woman giving
The word folic is from the Latin folia (leaf), coined in 1941 birth to an infant with a neural tube defect should have 4 mg
for an early preparation of this vitamin from spinach leaves. folic acid from before conception and throughout pregnancy.
Deficiency of folic acid is widespread in many Folinic acid is also effective in the treatment of folate-
communities and is a known factor in the aetiology of deficient megaloblastic anaemia but it is normally only used
neural tube defects. Although found widely in plant and in association with cytotoxic drugs; it is given as calcium
animal tissues the vitamin is easily destroyed by cooking and folinate.
storage processes. Requirements for growth during foetal
and neonatal life and childhood are high. Deficiency states Key Learning Points
are likely to occur during childhood particularly when there Dietary folate deficiency is not uncommon; deficiency results in
is excessive cell turnover such as occurs in the haemolytic megaloblastic anaemia.
anaemias and in exfoliative skin conditions such as eczema. Low folate status is associated with neural tube defects, and
Folic acid is the precursor of tetrahydrofolate, which is periconceptional supplements reduce the incidence.
intimately involved in a series of enzyme reactions of amino Folate status can be assessed by measuring plasma or
acid, purine and intermediary metabolism. Folate is absorbed erythrocyte concentrations.
in the duodenum and in malabsorptive states including coeliac
Nutrition 97
VITAMIN E (TOCOPHEROL) DEFICIENCY disease may become deficient. Neonates are relatively
deficient in vitamin K and those who do not receive
Vitamin E deficiency except in the preterm infant is supplements are at risk of serious bleeds including intracranial
rare. In the preterm, vitamin E deficiency is occasionally bleeding. Therefore, newborn babies should receive vitamin
associated with haemolytic anaemia and may contribute K to prevent vitamin K deficiency bleeding (haemorrhagic
to the membrane damage associated with intraventricular disease of the newborn). Also babies born to mothers with
haemorrhage and bronchopulmonary dysplasia. Vitamin E liver disease or taking enzyme inducing anticonvulsant
is essential for the insertion and maintenance of long chain drugs (carbamazepine, phenobarbital, phenytoin), rifampicin
polyunsaturated fatty acids in the phospholipid bilayer of cell or warfarin should receive vitamin K because they are at
membranes by counteracting the effect of free radicals on particular risk of vitamin K deficiency.
these fatty acids. When the essential fatty acid content of
Key Learning Points
the diet is high, vitamin E is required in increased amounts.
Plant foods high in fat, particularly polyunsaturated fat, are Dietary deficiency of vitamin K is rare.
the best sources of vitamin E. Natural sources of vitamin E Newborn infants have low vitamin K status and are at risk of
are oily fish, milk, cereal, seed oils, peanuts and soya beans. severe bleeding unless given prophylactic vitamin K.
Children with abetalipoproteinaemia have steatorrhoea Vitamin K status is assessed by estimation of prothrombin time.
and low circulating levels of vitamin E associated with
neurological signs. More recently older children and adults
with cystic fibrosis have developed neurological signs Biotin and Pantothenic Acid
similar to those in abetalipoproteinaemia due to vitamin E Biotin is a coenzyme (CoA) for several caboxylase enzymes.
deficiency. In any child with fat malabsorption such as cystic Biotin deficiency is very rare as biotin is found in a wide
fibrosis and cholestatic liver disease, it would be important range of foods, and bacterial production in the large intestine
to give supplementary vitamin E in addition to correcting appears to supplement dietary intake.
the underlying fat malabsorption where possible. The most Pantothenic acid is part of CoA and of acyl carrier protein
commonly used index of vitamin E nutritional status is the (ACP). Spontaneous human deficiency has never been
plasma concentration of alpha-tocopherol. From the plasma described. As pantothenic acid is so widely distributed in
concentration of alpha-tocopherol required to prevent foods, any dietary deficiency in humans is usually associated
haemolysis in vitro, the average requirement is 12 mg/day. with other nutrient deficiencies.
Some neonatal units still give a single intramuscular dose
of vitamin E at birth to preterm neonates to reduce the risk Copper Deficiency
of complications; however, no trials of long-term outcome
have been carried out. The intramuscular route should also Copper is the third most abundant dietary trace metal after
be considered in children with severe liver disease when iron and zinc and is found at high levels in shellfish, liver,
response to oral therapy is inadequate. kidney, nuts and whole grain cereals. In 1962, copper
deficiency was reported in humans.
Key Learning Point Copper is also an important constituent of many enzyme
Premature infants have inadequate vitamin E status and are systems such as cytochrome oxidase and dismutase yet clinical
susceptible to haemolytic anaemia. copper deficiency states are rare except in very LBW infants,
in states of severe protein energy malnutrition and during
prolonged parenteral nutrition. The term infant is born with
VITAMIN K DEFICIENCY substantial stores of liver copper largely laid down in the last
Vitamin K is necessary for the production of blood clotting trimester of pregnancy bound to metallothionein. Preterm
factors and proteins necessary for the normal calcification infants will, therefore, be born with inadequate liver stores
of bone. Osteocalcin synthesis is similarly impaired, and of copper and may develop deficiency in the newborn period
there is evidence that undercarboxylated osteocalcin is unless fed foods supplemented with copper. No estimated
formed in people with marginal intakes of vitamin K who average requirement (EAR) or recommended dietary intake
show impairment of blood clotting. Treatment with warfarin (RDI) has been estimated for copper. However, it is thought
or other anticoagulants during pregnancy can lead to bone that the daily requirement for copper in term infants is
abnormalities in the foetus the so-called foetal warfarin 0.2 mg per day increasing to 1 mg per day by the end of the
syndrome, which is due to impaired synthesis of osteocalcin. first year of life hereafter the requirement for copper is 13
Because vitamin K is fat soluble, children with fat mg per day. Human milk contains about 0.6 mmol (39 mg)
malabsorption, especially in biliary obstruction or hepatic per 100 ml copper but cows milk only contains 0.13 mmol
98 Hutchison's Paediatrics
(9 mg) per 100 ml. Many infant formulae are supplemented soil selenium content of the region. Vitamin C improves the
with copper. In soya-based infant formulas, phytate binding absorption of selenium.
prohibits absorption and additional copper supplementation
is required. Percentage absorption of copper is increased Clinical Features
in deficiency states although, like iron, absorption is partly In China, an endemic cardiomyopathy affecting women
dependent on the form in which copper is presented to the gut. of childbearing age and children known as Keshan
Other trace elements such as iron, zinc, cadmium, calcium, disease has been reported. The condition responds to
copper, sulphur and molybdenum interfere with copper
selenium supplementation. In New Zealand, low selenium
absorption. After absorption the copper is bound to albumin
concentrations in the soil result in low plasma levels and in
in the portal circulation. Caeruloplasmin is formed in the
children with phenylketonuria (PKU) on a low phenylalanine
liver and is the major transport protein for copper. Frank
diet low plasma levels of selenium have been reported.
copper deficiency can be determined by the measurement
There is no obvious clinical abnormality in the New Zealand
of plasma copper concentrations or plasma caeruloplasmin,
or by determination of the activities of copper-dependent population although poor growth and dry skin has been
enzymes such as superoxide dismutase. Therefore, plasma reported in the selenium deficient PKU children.
copper has been used as a measure of copper deficiency but Increasingly, epidemiological evidence as well as data
caeruloplasmin also acts as an acute-phase reactant and will from animal studies points to a role for selenium in reducing
increase in stress situations particularly during infections. cancer incidence. However, it should be noted that while
The normal plasma copper concentration is 1125 mmol/L selenium is an essential micronutrient and supplementation
(0.71.6 mg/L) and caeruloplasmin 0.10.7 g/L. These or fortification of foods may in many cases be advantageous,
values are decreased in deficiency states. in excess selenium is exceedingly toxic. The margin between
an adequate and a toxic intake of selenium is quite narrow.
Clinical Features Symptoms of selenium excess include brittle hair and nails,
In preterm infants, there may be severe osteoporosis with skin lesions and garlic odour on the breath due to expiration
cupping and flaring of the bone ends with periosteal reaction of dimethylselenide. Lack of dietary selenium has also been
and submetaphyseal fractures. Severe bone disease has been implicated in the aetiology of cardiovascular diseases, but the
reported in older infants on bizarre diets. It has been argued evidence is less convincing than for cancer.
that subclinical copper deficiency may account for some of
the fractures in suspected non-accidental injury. It is most Chromium Deficiency
unlikely that copper deficiency in an otherwise healthy child Chromium may be involved in nucleic acid metabolism and is
could result in unexplained fracture. To suggest that copper recognised as a cofactor for insulin. It is poorly absorbed and
deficiency develops without obvious cause and results in there is some evidence that in the elderly, glucose tolerance
bone fractures without other evidence of copper deficiency can be improved by chromium supplementation. Chromium
is at best unwise. deficiency has been reported in severely malnourished
Menkes syndrome, also called steely-hair or kinky- children and in children on prolonged parenteral nutrition.
hair syndrome, is a rare X-linked disorder associated with Weight gain and glucose tolerance in such children has
disturbed copper metabolism. There is gross osteoporosis been reported to improve after chromium supplementation.
and progressive neurological impairment. Scalp hair is In long-term parenteral nutrition peripheral neuropathy
sparse and brittle with pili torti on microscopic examination. and encephalopathy have also been reported to respond to
The disorder does not respond to copper therapy. chromium administration.
thyroxine (T4) but a decreased triiodothyronine (T3). Thyroid not receive fluoride supplements until the age of 6 months.
stimulating hormone (TSH) values increase. The introduction Toothpaste or tooth powder which incorporate sodium
of iodised salt to areas of endemic goitrous and cretinism fluoride or monofluorophosphate are also a convenient
has largely eradicated goitre cretinism in these regions. Thus source of fluoride.
at present this is best achieved through iodine fortification Higher intakes of fluoride (10 mg/L) are toxic and
of foods. Some plants including Brassicas, bamboo shoots leading to fluorosis. However, fluorosis is common in parts
act as goitrogens by inhibiting iodine uptake by the thyroid of Southern Africa, the Indian subcontinent and China where
gland. there is a high fluoride content in the subsoil water, which
enters the food chain either directly or via plants.
Key Learning Point
Key Learning Points
Iodisation of salt is the preferred way and greater than 60% of
families in affected regions now have access to fortified salt. Fluoride is now considered that the topical action of fluoride on
enamel and plaque is more important than the systemic effect.
Also systemic fluoride supplements should not be prescribed
Fluoride
without reference to the fluoride content of the local water
Fluoride is present in most foods at varying levels and supply.
also in drinking water, either naturally occurring or added Infants need not receive fluoride supplements until the age of 6
deliberately. Fluoride content of teeth and bones is directly months.
proportional to the amount ingested and absorbed from the
diet. Fluoride has been recognised as an important factor Other Trace Minerals
in the prevention of caries. Where the fluoride content of
the drinking water is less than 700 mg/L (0.7 parts per Manganese, molybdenum and cadmium are known to be
million), daily administration of fluoride tablets or drops is necessary for health in animals but no clear human evidence
a suitable means of supplementation. It is now considered of deficiency states are known to man. Following recent
that the topical action of fluoride on enamel and plaque is experience with zinc, copper and chromium, it seems likely
more important than the systemic effect. Systemic fluoride that future research will lead to the identification of specific
supplements should not be prescribed without reference to deficiencies of some of these other trace elements in infants
the fluoride content of the local water supply. Infants need and children.
Anne Margaret Devenny
C H A P T E R
Respiratory Disorders 6
INTRODUCTION Birth History
Respiratory disorders are very common in paediatrics. Was the infant born preterm?
They are responsible for significant numbers of inpatient Did they have respiratory difficulties?
admissions, outpatient referrals and general practice consults. Birth weight.
The Global Initiative for Asthma (GINA), global burden
report (www.ginasthma.com) estimated that 300 million
Family History
people of all ages and ethnicity worldwide have asthma. Who lives with the child?
The 1993 World Development Report reported that acute Are there family members with respiratory illness, e.g.
respiratory infection caused 30% of all childhood deaths asthma?
(www.econ.worldbank.org). This chapter covers common Is there a family history of hay fever or eczema?
paediatric respiratory problems as well as some rarer ones.
A careful history and examination is vital in respiratory Social History
medicine. When a child presents with respiratory symptoms, Is there anyone in the house who smokes?
e.g. a cough then the following should be asked. Are there housing problems, e.g. dampness?
What pets do they have?
HISTORY AND EXAMINATIon What recent travel have they had?
When did the cough start? Vaccination History
Is it there all the time?
What makes it better or worse? Have all vaccines been given?
Is the cough productive of sputum? If so, is it green or
blood stained? (Remember young children commonly RESPIRATORY INVESTIGATIONS
swallow sputum rather than coughing it up). A persistent There are numerous respiratory investigations that can be
productive cough in a child can be a sign of bronchiectasis. done. These are carried out when clinically indicated.
Is it worse at night? (In asthmatics, night cough is a Chest imaging, e.g. chest radiograph, chest computed
common problem) tomography (CT) scan and magnetic resonance imaging
Are there other associated symptoms, e.g. wheeze, (MRI) of chest.
breathlessness, fever or lethargy? Lung function studiesinclude spirometry and
What treatments have been tried and what do the parents plethysmography. Figures 6.1 to 6.3 show a normal
feel helped? Have they used the inhalers correctly? flow volume loop, an obstructed flow volume loop and
a restrictive flow volume loop respectively. Figure 6.4
Past Medical History
shows a plethysmograph (body box). These are similar to
Previous operations and hospital admissions the studies performed in adults and usually children need
Presence of other conditions, e.g. eczema and hay fever to be at least 5 years old for them to do the manoeuvres
as this may point to a diagnosis of atopy. needed. Incentive computer programmes have been
Respiratory Disorders 101
Haemangiomas of the Airways blind ending pouch. This presents soon after birth when the
infant cannot swallow its own secretions or milk and it often
These are rare. The abnormal blood vessels can obstruct the
chokes. It will be difficult to pass a nasogastric tube. Any
larynx. They can shrink in response to steroids, which may
fluid aspirated from the nasogastric tube does not contain
have been given in the mistaken thought that the infants stridor
acid so the pH paper which is used to check the position of
is due to croup. Treatment can include surgical removal of the
the tube will not turn red.
lesions, laser therapy and direct injection of corticosteroids.
A tracheo-oesophageal fistula (TOF) is an abnormal
If these managements fail then tracheostomy may be needed.
connection between the trachea and oesophagus, which can
Laryngeal Papillomatosis occur along with an oesophageal atresia. A TOF usually
presents early with recurrent choking with feeds and often
This is a rare condition where infection with the human associated with desaturations. Treatment is surgical. The
papillomavirus, leads to papillomata in the larynx, which airways of babies with TOF can be malacic and babies post-
causes hoarseness and stridor. The infection is usually repair can have ongoing respiratory difficulties.
acquired prenatally. Treatment involves laser therapy of the In 25% of cases other gastrointestinal malformations, e.g.
lesions. Anti-viral treatment with cidofovir can also be used. imperforate anus, pyloric stenosis and duodenal atresia occur.
This condition requires multiple lasering procedures over a The VACTERL complex is a condition where children have
long period of time. If the papillomas spread to the lower vertebral, anal, cardiovascular, tracheo-oesophageal, renal,
respiratory tract then the outcome is generally worse and radial, and limb malformations.
death can occur due to severe lung destruction.
Pulmonary Agenesis or Pulmonary Hypoplasia
Tracheobronchomalacia
In pulmonary agenesis there is a failure of development of
This is a condition where the trachea, one particular bronchus the bronchi and lung tissue of one or both lungs. Bilateral
or the whole bronchial tree is floppy and fails to maintain agenesis is incompatible with life. Babies born with one lung
airway patency due to an abnormality of the cartilaginous can have a normal life expectancy. These abnormalities are
ring and hypotonia of the myoelastic elements. There is a rare. More common is pulmonary hypoplasia where one
collapse of the affected area on breathing in. It can occur or both lungs fail to develop properlythey have reduced
in extreme prematurity or when there is an aberrant vessel, bronchial branches, alveoli and blood vessels. Bilateral
e.g. pulmonary artery sling where the left pulmonary artery pulmonary hypoplasia is found in Potter syndrome where
comes off the right pulmonary artery and encircles the right there is renal agenesis and oligohydramnios. The severity of
mainstem bronchus and trachea. These aberrant vessels can the hypoplasia is dependent on what gestational age the arrest
also press on the oesophagus. It can present with stridor or of development occurs. The earlier this occurs the worse the
with apparent life-threatening event (ALTE). Investigations outlook. Most cases of pulmonary hypoplasia are seen as a
to look for this condition and to assess its severity include secondary consequence of congenital diaphragmatic hernia.
barium swallow, bronchoscopy, cardiac echo, and MRI of
the great vessels. The treatment is dependent on the cause. Congenital Diaphragmatic Hernia
Tracheal Stenosis In the first few weeks of foetal life there is a communication
between the pleural and peritoneal cavities via the pleuro-
Congenital tracheal stenosis is a rare condition where there is peritoneal canal. This usually closes between 8 weeks and
focal or diffuse complete tracheal cartilage rings. This results 10 weeks of gestation. Failure of this closure results in a
in narrowing or stenosis of the trachea. It can occur on its defect in the diaphragm. The abdominal contents can then
own or in association with a vascular ring, e.g. pulmonary herniate through into the chest compressing the intrathoracic
artery sling. Acquired tracheal stenosis can occur secondary to structures leading to poor lung development. Eighty-five
prolonged intubation or infection in the trachea. It can present percent of congenital diaphragmatic hernias are left sided.
with breathing difficulties and stridor on inspiration and They occur in 1 in every 2,5003,000 births.
expiration. It has significant morbidity and can have significant The mortality rate in this condition is high about 40%.
mortality, if severe. Tracheal reconstruction is often needed. The mortality occurs from the pulmonary hypoplasia and
also the elevated pulmonary artery pressures (pulmonary
Tracheo-oesophageal Fistula with Oesophageal hypertension). Larger defects are associated with worse
Atresia herniation and more severe hypoplasia. In 10% of children
Here there is a failure of embryonic development of the trachea have other abnormalities. This condition can be detected
and oesophagus. In oesophageal atresia the oesophagus is a antenatally by ultrasoundif detected, the infant should be
104 Hutchison's Paediatrics
Fig. 6.5: Left-sided congenital diaphragmatic hernia Fig. 6.6: Congenital lobar emphysema of left upper lobe
delivered in a unit where there is a neonatal surgical team on tissue during weeks 735 of gestation. Large CCAMs may
site. be associated with hydrops foetalis in as many as 40%, which
An infant with a large diaphragmatic hernia usually presents has a significant mortality. Hydrops is thought to arise from
within the first few hours after birth with breathing difficulties compression of the inferior vena cava by the CCAM, which
and cyanosis. If the hypoplasia is severe the baby may have affects venous, that returns to the heart causing low cardiac
obvious difficulties and cyanosis just after birth. Treatment output and effusions. The CCAM can also press on the parts
involves resuscitation and stabilisation with intubation and of the lung, which are growing normally and cause them to be
ventilation. Chest X-ray (CXR) confirms the diagnosis showing hypoplastic leading to respiratory difficulties. Large CCAMs
herniation of the bowel into the chest and usually mediastinal can be detected by antenatal ultrasound. Small CCAMs may
displacement (Fig. 6.5). A nasogastric tube should be passed go unnoticed for years until someone has a chest radiograph
to decompress the stomach. Surgery is then performed to for another reason or until they become infected. Treatment
repair the defect. Nitric oxide, extracorporeal membrane is usually surgical excision of the affected lobe(s).
oxygenation (ECMO) and high frequency oscillation have all
been used to try to stabilise infants prior to surgery. Congenital Pulmonary Sequestration
In this condition there is an abnormal development of
OTHER CONGENITAL LUNG ABNORMALITIES primitive lung tissue, which does not communicate with the
Congenital Lobar Emphysema bronchial tree and receives its blood supply from one or more
systemic vessels rather than the pulmonary circulation. It can
This is a rare condition where there is over expansion of a present with cough and recurrent chest infections. Treatment
pulmonary lobe with resultant compression of the remaining is surgical excision of the affected area.
ipsilateral lung (Fig. 6.6). This is caused by an abnormally
narrow bronchus where there is weakened or absent bronchial Congenital Abnormalities of the
cartilage, so that there is air entry when the baby breathes in Thoracic Skeleton
but the narrow bronchial lumen collapsed during expiration.
Common congenital abnormalities of the thorax include
This can present with breathing or feeding difficulties, which
pectus excavatum where the sternum and several ribs grow
worsen with intercurrent respiratory infection. The treatment
abnormally leading to a caved in shape to the anterior chest
is surgical excision of the affected lobe.
wall and pectus carinatum where the growth abnormality
Congenital Cystic Adenomatoid Malformation leads to an anterior protrusion of the chest wall. Pectus
excavatum is by far the commonest. These often cause
of the Lung
concern due to the chest shape, but rarely lead to significant
In congenital cystic adenomatoid malformation of the lung clinical symptoms. Corrective thoracic surgery is available
(CCAM), there is an abnormal cystic development of lung for both these conditions, if warranted. More complex
Respiratory Disorders 105
thoracic skeletal abnormalities include those where there is a Acute Otitis Media and Otitis Media with Effusion
skeletal dysplasia. The most severe can cause affected infants
This is inflammation of the middle ear. It can be acute or chronic
to die soon after birth, e.g. asphyxiating thoracic dystrophy.
and can also be accompanied by fluid in the middle ear which
There are a number of these rare conditions where corrective is called otitis media with effusion (OME). Acute and chronic
thoracic surgery and long term ventilatory support have had otitis media are very common presentations in children. Acute
encouraging results. Thoracic scoliosis can be congenital or otitis media (AOM) usually presents with fever and pain in
acquired where it is usually seen with significant hypotonia. the ears. Young children who cannot yet speak may just be
Treatment of this includes thoracic brace and corrective irritable and febrile and their parents may note them rubbing
thoracic surgery, e.g. anterior and posterior spinal fusion their ears. If the infection in the tympanic membrane causes
to burst the parents may notice a yellow discharge and often
ACQUIRED ABNORMALITIES the pain improves as the pressure is released. Hearing loss
may also be present. There are guidelines for the management
Upper Respiratory Tract of this available on www.sign.ac.uk. On inspection of the
Upper Respiratory Tract Infection tympanic membranes in AOM they may be bulging and red
with fluid evident behind the tympanic membrane. In OME,
Upper respiratory tract infection is common in children and the tympanic membrane may not be inflamed, but there is
usually viral in origin caused by rhinoviruses and adenovirus. fluid evident. The main management of AOM is supportive
Bacterial pathogens include Streptococcus and Haemophilus with analgesia and fluidsif there is no improvement within a
influenzae. The child will usually have fever, cough and nasal few days or a child gets worse, oral antibiotics, e.g. penicillin
discharge and may be lethargic and refuse feeds. Common can be used. Children with more than four episodes of AOM
examination findings include an inflamed throat and often in 6 months need to refer to an ENT specialist. In OME,
inflamed tympanic membranes. Cervical lymphadenopathy the child needs its hearing assessed. If hearing loss is found
may also be present. Treatment is supportive with fluids and a child should be referred to ENT as persistent hearing loss
antipyretics such as paracetamol. can cause speech delay. There is no place for antibiotics or
Investigations can be done, such as throat swabs for decongestants in OME.
virology and bacterial culture. If the child is not improving
antibiotics may be needed, e.g. penicillin V. If breathing or Croup-laryngotracheobronchitis
feeding difficulties are evident children should be referred to This is viral-induced inflammation of the larynx and trachea.
hospital for further management. Symptoms include a barking cough, inspiratory stridor and
fever with rapid onset. Children may also have difficulty in
Tonsillitis breathing when it is severe. They may also show signs of
This is where the tonsils are enlarged and inflamed, purulent respiratory distress with sub-costal recession. The manage
exudates may be evident. The child may have difficulty in ment of this is high flow oxygen if needed, paracetamol
swallowing, and can be admitted for intravenous fluids. and prednisolone or dexamethasone. If there are signs of
Throat swabs can be taken if symptoms are not resolving. significant distress nebulised adrenaline 5 ml of 1 in 1,000
Scottish intercollegiate guidelines network (SIGN) guidelines should be given and anaesthetic help should be obtained.
for the management of sore throats can be found at www. Acute Epiglottitis
sign.ac.uk.
The indications for tonsillectomy are the following: This is a bacterial inflammation of the epiglottis usually
Sore throats are due to acute tonsillitis caused by H. influenzae. There is significant toxicity with
Episodes of sore throat are disabling and prevent normal high fever, drooling, stridor and difficulty in breathing. It
functioning has become less common due to the introduction of the HIB
Seven or more well documented, clinically significant, vaccination. Management of this should be prompt induction
adequately treated sore throats in the preceding year of anaesthesia, intubation and intravenous antibiotics.
or five or more such episodes in each of the preceding
ACQUIRED LOWER RESPIRATORY TRACT
two years or three or more such episodes in each of the
PROBLEMS
preceding three years.
Streptococcus pyogenes is the commonest pathogen Community Acquired Pneumonia
isolated and is treated with penicillin V or erythromycin,
Viral Pneumonias
if penicillin allergy is present. Remember, glandular fever
caused by Epstein-Barr virus can cause significant throat Respiratory syncytial virus (RSV) is a negative-sense,
inflammation and cervical lymphadenopathy, which will not enveloped the single stranded RNA virus which belongs to
respond to antibiotics. the Paramyxoviridae family. It is the single most important
106 Hutchison's Paediatrics
Fig. 6.7: Right upper lobe collapse or consolidation Fig. 6.8: Right middle lobe pneumonia
Respiratory Disorders 107
Children without fever who present with a pleural previously in normal children who have a reduced conscious
effusion are of more concern as malignancies particularly level and can therefore not protect their own airway by
lymphoma and leukaemia may present this way. In these coughing and closing their larynx, e.g. those with a head
children a chest CT is indicated sooner and the pleural fluid injury or coma from any cause. More often it is seen in
drained should be sent for cytological examination. children with chronic neurological conditions, e.g. cerebral
palsy. GOR where the stomach contents reflux back into the
Gastro-oesophageal Reflux (GOR) oesophagus can also predispose to aspiration, particularly in
Reflux of the stomach contents into the oesophagus is a the significantly neurologically handicapped children.
common condition and classically in infants presents as It can present in a child who coughs and chokes during
recurrent non-bilious vomiting. Infants usually continue to feeds, but it can also occur silently until enough aspiration has
gain weight unless the reflux is severe. Infants with reflux can occurred to cause symptoms of chronic cough, breathlessness
also be very irritable with feeding and can refuse feeds. GOR and fever. It should be suspected in neurologically handicapped
can also cause respiratory symptoms with chronic cough, children who have reduced muscle power and developmental
wheeze and aspiration. In severe reflux the infants can stop delay who present with recurrent severe chest infections.
breathing due to laryngospasm causing ALTEs. GOR is also Recurrent aspiration can cause severe chronic lung disease.
found in association with other respiratory conditions, such
as asthma and CF and if found, is treated, but unfortunately Investigation of Aspiration Pneumonia
does not always improve the respiratory symptoms. Children This can be difficult. A CXR can show changes of aspiration,
with severe cerebral palsy can also have significant problems but these are often nonspecific. Often in aspiration the right
with GOR and are also more prone to chest problems due to lung is worst affected. A barium swallow or a pH study
muscle hypotonia and ineffective cough. can be done to look for reflux. A videofluoroscopy where
screening is done when the child is eating and drinking is
Diagnosis very helpful and can show direct aspiration of the swallowed
This is based on the clinical history and examination of foods.
findings. Oesophageal pH monitoring and a barium swallow
are also used. If there is a suggestion that a child has difficulty Management of Aspiration Pneumonia
in swallowing then barium swallow and/or an upper GI The acute treatment is to manage the chest infection with
endoscopy is indicated. antibiotics, chest physiotherapy and oxygen, if needed. GOR
should be treated. Consideration should be given to gastrostomy
Treatment tube placement in children with cerebral palsy, with feeding
Simple reflux treatment in infants includes elevating the difficulties, who have recurrent aspiration pneumonia.
infants head in bed by placing a blanket or similar underneath
the mattress. Feed thickeners, such as carobel can also be ASTHMA
used. Infant Gaviscon sachets can also be added to feed Asthma is one of the commonest chronic conditions affecting
to reduce acidity. Hydrogen blockers, e.g. ranitidine and children. In some studies nearly one in four children has had
proton pump inhibitors, e.g. omeprazole are also used. a diagnosis of asthma. Asthma increased in prevalence in the
Domperidone a dopamine antagonist that stimulates gastric 1980s and 1990s, but is now showing signs of decreasing in
emptying and low dose erythromycin can also be used to prevalence. It causes significant morbidity. There are still
stimulate gastric motility. asthma deaths in childhood. Asthma is a chronic inflammatory
Severe cases are unresponsive to medical management condition of the airways where there is mast cell activation
may require surgical intervention using the Nissen and infiltration of inflammatory cells, e.g. eosinophils,
Fundoplication procedure where the fundus of the stomach airway macrophages, neutrophils, lymphocytesusually
is wrapped around the lower oesophagus, strengthening the TH2 and interleukins. These cause oedema of the airways,
lower oesophageal sphincter. disruption of the epithelium and mucus hypersecretion.
There is reversible airways obstruction due to smooth muscle
ASPIRATION PNEUMONIA constriction in response to various trigger factors. This leads
This is a condition where the contents of the pharynx or to the clinical symptoms of wheeze, nocturnal cough and
oesophagus spillover into the larynx and bronchial tree difficulty in breathinga child sometimes will complain of
causing cough, fever and irritant pneumonias. This can occur chest tightness or chest pains.
Respiratory Disorders 109
sucking, such as, turbohalers and accuhalers can be useful therapy, such as omalizumab, which binds free serum IgE,
in children over 8 years of age. The ability of parents and and therefore is thought to interrupt signals earlier in the
children to use their inhalers needs to be checked. Also, it is allergy pathway that leads to asthma. Immunosuppressives
well recognised that compliance or adherence with treatment such as cyclosporin or methotrexate are also occasionally
is a significant problem in many chronic diseases and many used in severe asthma.
people would just tend to take their asthma treatment when In the children under 5 years of age the management of
they felt unwell instead of in a preventative way. asthma is somewhat different as there is more evidence for
Children with mild intermittent asthma symptoms (step 1 the effectiveness of montelukast. It should be tried in addition
of British Thoracic Society guidelines) require a short acting to low dose inhaled steroids before long acting beta agonists.
inhaled beta agonists, e.g. Salbutamol as required. This Young children with difficult asthma symptoms should be
provides rapid relief for bronchospasm, and is used on as referred for further investigation and management.
needed basis.
Children with more persistent asthma symptoms (step Management of Acute Asthma Attack
2) should be treated with an inhaled steroid, e.g. clenil This very much depends on the severity of the attack. The
modulite or fluticasone diproprionate at as low a dose as child needs to be assessed quickly and efficiently. There
possible to maintain symptom control, e.g. 100 mcg twice are courses run worldwide by resuscitation organisations,
daily. Children need to wash their mouths out afterwards to e.g. the advanced paediatric life support course run by the
reduce further absorption of the steroid from the mouth. In Advance Life Support Group (www.alsg.org). These provide
children, less than 5 years who are unable to take inhaled an excellent way to learn to manage paediatric emergencies.
steroids then a leukotriene receptor antagonist is a suitable The approach is based on assessment of airway, breathing
replacement for inhaled steroids. and circulation. Is the childs airway open? What is their
.Children with moderate asthma symptoms, not work of breathing? What is their circulation (normal skin
controlled on low dose inhaled steroids (step 3) can have colour, capillary refill time less than 2 seconds)?
their dose of inhaled steroids increased to 200 mcg twice A child who is alert, talking easily with a normal
daily of beclomethasome or equivalent. A long acting beta respiratory rate is less concerning than a child who is
2 agonist, e.g. salmeterol or formoterol or a leukotriene too breathless to talk, has significantly increased work of
receptor antagonist, e.g. montelukast can also be tried. breathing, and who appears confused or looks exhausted and
Step 4 of the guidelines suggests that, if asthma control pale.
is inadequate with inhaled steroids (children: 400 mcg/day)
plus long-acting B2 agonist, then consideration should be The following should be considered in a child with acute
given to increasing the inhaled steroid dose to 800 mcg/ asthma episode:
day, adding a leukotriene receptor antagonist and oral 1. Assess and manage: airway, breathing and circulationif
theophylline. If children fail to improve, then the drug unwell with respiratory distress start high flow oxygen.
should be stopped and the child referred to a specialist care. 2. Check oxygen saturation level, and if less than 94% start
If increasing the dose of inhaled steroid has not helped, then oxygen.
this should be put back down to its previous dose. Some 3. If over 5 years of age and if able to check peak flowif
children may need high dose of inhaled steroids to keep their less than 50% this is a moderately severe attack, if less
asthma under control. They are at increased risk of systemic than 33% of normal this is a life-threatening exacerbation.
absorption of the steroids, which can cause suppression of 4. Give salbutamol 10 puffs via a spacer devicethis is
the adrenal glands and adrenal insufficiency. They should called multidosing and this can be repeated half hourly
have a Synacthen test perfomed and a management plan until benefit seen. Arterial blood gases are not routinely
discussed with the parents and their own doctor as what to performed in acute asthmathey can cause further
do, if their child became unwell. These children would be at distress. Capillary blood gases can be done in those
risk of adrenal crises with hypoglycaemia, coma and death. causing concern, they will give a useful CO2 level.
If asthma symptoms persist and children are having 5. Children with severe distress, who cannot multidose,
frequent exacerbations, the next step is daily oral steroids. should be given nebulised salbutamol (2.5 mg in those
This can have significant side effects, e.g. weight gain and under 5 years and 5 mg in those over 5 years). The
immune suppression. Prior to starting this, many children nebuliser can be given continuously in severe attacks.
will have further investigations to try to make sure that 6. Give oral prednisolone 2 mg/kg per day up to maximum
this is difficult to control asthma and not another problem, of 40 mg per day.
such as, CF or GOR. Other medications for difficult asthma 7. Reassessif child is not improving or getting worse obtain
include subcutaneous bricanyl infusions, anti-IgE antibody intravenous access, start IV hydrocortisone. Consider
112 Hutchison's Paediatrics
IV aminophylline infusionbolus should be given, if to establish the underlying reason for the bronchiectasis to
child not on theophylline. Intravenous salbutamol and prevent further damage.
IV magnesium can also be added for severe attacks. The clinical features of bronchiectasis include finger-
Paediatric centres vary in their first choice of IV treatment clubbing and chest deformity. Any child with bronchiectasis
for asthma. needs investigations to try to find and treat the cause. The
Unwell children should be moved to a high dependency mainstay of treatment is chest physiotherapy and prompts
area if available, for close observation and cardiac monitoring. treatment of exacerbations with antibiotics. Sputum cultures
If children with life-threatening asthma deteriorate despite aid in choice of antibiotics. There are guidelines available for
these measures with increasing CO2 levels and increasing the management of non-CF related bronchiectasis in children
oxygen requirement then non-invasive ventilator support and adults. (www.brit-thoracic.org.uk)
can be given by way of a face mask and either continuous
positive airway pressure (CPAP) or bi-level positive airway CYSTIC FIBROSIS
pressure (BiPAP) ventilator support where both inspiration
Cystic fibrosis (CF) a very common genetic condition in
and expiration are supported by the ventilator. Very rarely
Caucasians. In UK, the carrier rate is approximately 1 in 25.
do children need invasively ventilated for asthma. Indications
It is rare in the African-American population, but is found
for this would be respiratory failure not responding to all
in the Asian population particularly those of Pakistani and
other measures and respiratory arrest. As with many other
Indian origin. It has autosomal recessive inheritance caused
causes of arrest in children out of hospital arrests have a very
by mutations on the CF gene, which is located on the long
poor prognosis. Most children respond well to multidosing
arm of chromosome 7. There are over 1,500 causative
with salbutamol, oxygen and steroids.
mutations of CF, the most common one being Delta F508
mutation. The mutations are found in the gene which codes
BRONCHIECTASIS
for a proteinthe cystic fibrosis transmembrane regulator
Bronchiectasis is a condition where the bronchi are irregularly (CFTR) protein which is made up of 1,480 amino acids.
shaped and dilated (Fig. 6.16). Pulmonary secretions do This protein is a chloride channel regulator, an ABC (ATP-
not drain properly and are prone to infection. This causes binding cassette) transporter or traffic ATPase. It is involved
further inflammation and scarring with airways obstruction. in the transportation of molecules, such as chloride across the
This causes chronic cough and sputum production. Recurrent membranes of cells in the lungs, liver, pancreas, digestive
exacerbations can occur that causing breathlessness and tract, reproductive tract and skin. Mutations in it cause
significant morbidity with loss of lung function due to defects in salt and water absorption across cells.
obstructive lung disease. The Delta F508 mutation is a deletion of phenylalanine at
Congenital bronchiectasis is rare. Most are acquired from residue 508, this leads to a misfolding of the CFTR protein,
genetic conditions such as CF, primary ciliary dyskinesia and when it reaches the endoplasmic reticulum of the cell it
(PCD) and immunodeficiency syndromes. Post-infectious is marked as faulty, and is then degraded and does not reach
bronchiectasis can occur following pneumonia, measles or the cell membrane to perform the role it needs to. There are
whooping cough. It can also occur secondary to recurrent 5 main classes of severity of CF mutations (Fig. 6.17). They
aspiration or to foreign body aspiration. It is important to try can result in different problems with CFTR function from
Class 1 nonsense mutations causing the CFTR protein not be detected on antenatal ultrasound. The affected bowel
to be made properly in the first instance, to the CFTR being can be necrotic and frequently affected bowel is resected
made properly, but not transported to the cell membrane and stomas created, and then reconnected when the bowel
where it is needed. Individuals who are homozygotes with has healed. Bowel dysfunction is common and it can take
Class 1 or Class 2 mutations are associated with more severe some time for the bowel to absorb feeds normally. Specialist
disease. The Delta F508 mutation is a Class 2 mutation. input from dieticians and gastroenterology is needed as these
The different combinations of mutations lead to different babies can require TPN for several months until their bowel
levels of functioning CFTR protein. Classic CF disease recovers.
with failure to thrive, severe bronchiectasis and pancreatic
insufficiency is usually only clinically apparent where the Screening for Cystic Fibrosis
levels of CFTR protein are extremely low. The parts of the In some countries where CF is common, such as Australia
body, which are most reliant on the functioning of the CFTR and the UK neonatal screening has been introduced. The
protein, are the vas deferens, the pancreas, lungs and bowel. process is based on measuring the immunoreactive trypsin
Interestingly there are other genes called disease modifiers, level (IRT) in the newborn screening blood spot which is
and they are thought to explain the findings that you can have taken at day 5 of life. If the IRT level is significantly elevated
2 children from the same family with the same CF mutations then the blood is sent for genetic analysis for varying numbers
who can have significantly different disease severity. of CF mutations depending on the country. If the baby is
found to have CF it has been shown that earlier diagnosis
Presentation of Cystic Fibrosis leads to a better prognosis with respect to better weight in
Mild CF may only present in adulthood with male the screened individuals.
infertility and sinusitis whereas Classic CF presents in
childhood with recurrent chest infections, malabsorption and Cystic Fibrosis Diagnosis
failure to thrive due to pancreatic exocrine insufficiency. The gold standard for the diagnosis of CF is the sweat
CF should be suspected in children with frequent chest test. This involves obtaining a sample of sweat induced
infections, particularly those with diarrhoea and poor by pilocarpine iontophoresis and measuring the amount of
growth. Finger-clubbing may be present as well as chest sodium and chloride present. In children a sweat chloride
deformity, crackles and wheeze. Abdominal distension and concentration over 60 mmol/kg is diagnostic of CF.
malabsorptive signs should also prompt further investigation. However, false positive and false negative sweat tests do
CF can also present as neonatal gut obstruction where occur and usually 2 or 3 sweat tests are done. If the sweat
the bowel is obstructed by inspissated meconium. This test is positive then the childs blood is sent for CF gene
causes small bowel obstruction and can be associated with mutation analysis.
micro colon (Fig. 6.18). The small bowel distension can Additional tests that can help include measurement of the
faecal fat, which is often increased in malabsorption, and
measuring faecal chymotrypsin levels which are low.
Disease Progression
Cystic fibrosis is a life-shortening disease with no cure. Many
treatments are available which help to improve life expectancy
and now the average life expectancy of a child born today
with CF is to the late 30s or early 40s. The morbidity and
mortality comes from the tenacious respiratory secretions,
lung infection and inflammation. These cause repeated
infections and inflammation further cause destruction of the
airways with obstruction and bronchiectasis (Fig. 6.19).
Ultimately this causes respiratory failure. Such children
should be considered for referral for double lung transplant.
However, this is not without risk and consideration needs
to be taken of what organisms the child recurrently cultures
from their sputum, whether the child is significantly
underweight and how well patients and their parents comply
with treatment. Unfortunately there is a significant shortage
Fig. 6.18: Bowel obstruction due to meconium ileus of organs, particularly for children so many on the transplant
114 Hutchison's Paediatrics
Physiotherapy
Physiotherapy in CF has two main goals: the first being
secretion clearance and the second being improving overall
fitness. Various techniques are used, such as the use of
Fig. 6.19: Severe cystic fibrosis lung disease with hyperinflation, PEP masks; flutter devices and activated cycle of breathing
central peribronchial thickening and bronchiectasis techniques. Chest percussion and drainage are still used in
some centres.
list die before they can be transplanted. Transplantation itself
has a significant morbidity and mortality and transplanted Chest physiotherapy should be performed one to three
organs have a limited life span therefore the goal of CF times daily depending on the individual and their state of
treatment is to maintain good nutrition and preserve lung health. Daily activity is encouraged in children and should be
function. CF researchers continue to look for new therapies as fun as possible, e.g. use of trampoline, and participation
and potential cures, e.g. gene therapy to try to replace the in school sports and team games.
defective gene (www.cfgenetherapy.org.uk), drugs which
target specific CF mutations, e.g. vertex 770 and drugs to
Nutrition
alter the osmolarity of the mucus, e.g. mannitol. There is a The aim of nutrition in CF is to achieve normal growth. This
detailed list of the upcoming therapies on the Cystic Fibrosis can be difficult in CF due to the combination of pancreatic
Foundation website (www.cff.org). insufficiency and the fact that recurrent infections lead to
There are several charitable organisations worldwide for poor appetite and increased basal metabolic rate. Normal
CF which has valuable information on their websites both for growth has been shown to improve lung function and survival
parents and for healthcare professionals. (www.cftrust.org. in CF. Usually for this to occur the childs intake often
uk, www.cff.org). needs to be more than a child of their age would normally
have. This can mean larger portions and consumption of
Common Respiratory Pathogens in Cystic Fibrosis foods higher in calories. In children who are pancreatic
The CF lung is susceptible to infection and damage insufficient, pancreatic enzymes need to be given with all
from a number of organisms. These include S. aureus, meals and most snacks to help with food digestion and
Pseudomonas aeruginosa, H. influenzae and Burkholderia absorption. Malabsorption can still occur despite pancreatic
cepacia. UK centres have most children on prophylactic anti- enzymes. Other medications, e.g. ranitidine, can be added to
staphylococcal antibiotics for at least the first 2 years of their their treatment to try to reduce gastric acidity and improve
lives. P. aeruginosa and B. cepacia are organisms that are the functioning of the enzymes. Children may need calorie
ubiquitous in the environment. P. aeruginosa colonisation, supplements and also occasionally gastrostomy feeding.
where Pseudomonas is recurrently isolated from cough swabs Children with advanced lung disease can continue to lose
or sputum has been shown to adversely affect the outcome weight despite all of these measures. Fat soluble vitamins
in CF. If Pseudomonas is isolated, even if a child is well, Vitamins A, D and E are given daily usually in multivitamin
eradication measures are started including oral, nebulised preparations.
and intravenous antipseudomonal antibiotics. This is an
attempt to prevent colonisation with P. aeruginosa. Epidemic
Antibiotics
subtypes of the B.cepacia organism have caused significant In the UK prophylactic antibiotics are given usually
increased mortality. Many centres are now segregating both against Staphylococcus aureas, e.g. flucloxacillin. Mild
Respiratory Disorders 115
pulmonary exacerbations are treated with additional oral Cystic Fibrosis Complications
antibiotics. Moderate to severe exacerbations are managed
Cystic Fibrosis Gut Disease
with intravenous antibiotics usually with two drugs, e.g.
ceftazidime and tobramycin, which are active against Cystic fibrosis transmembrane regulator (CFTR) regulates
Pseudomonas as well as a number of other bacteria for 2 chloride secretion in the gut. It also regulates ENaC
weeks. Physiotherapy is also increased in frequency. Many (epithelia sodium channel), NHE3 (sodium hydrogen
parents can do some of the intravenous antibiotic therapy at exchanger) and anion exchange. In CF this causes reduced
home. Some children with difficult intravenous access require and faulty intestinal secretions which leads to sticky mucus
semi-permanent subcutaneous central venous access, e.g. Port- and faecal material in the intestine. Fat malabsorption also
a-cath (Fig. 6.20). This allows frequent drug administration occurs despite appropriate enzyme dosage. There can also
without repeated venepuncture. Nebulised antibiotics, e.g. be faulty uptake of bile acids from the small intestine. All of
colomycin and TOBI (nebuliser solution, tobramycin) these can cause constipation, and if the material impacts can
are also used in eradication protocols for P. aeruginosa and in cause distal intestinal obstruction syndrome (DIOS). This is
the treatment of patients who are chronically colonised with a condition which presents similarly to meconium ileus in the
P. aeruginosa newborn with CF where there is gut obstruction and often
Azithromycin is also increasingly being used in patients perforation due to abnormal meconium.
with CF who recurrently grow P. aeruginosa. It has `The treatment of constipation includes dietary
been shown in several studies to reduce the number of interventions and laxatives, e.g. lactulose and movicol as
exacerbations. It is thought to have an anti-inflammatory well as checking that the child is taking his or her pancreatic
effect. enzymes the correct way. DIOS usually requires admission
to hospital and further management with gastrografin.
Other Cystic Fibrosis Therapies Occasionally surgery may be needed.
Pulmozyme is a nebulised preparation that breaks down the
DNA in respiratory secretion. In some patients it has reduced Cystic Fibrosis Liver Disease
the number of CF exacerbations and has also been shown to Focal biliary cirrhosis is the commonest form of liver
increase lung function. Nebulised hypertonic saline has also disease in CF. It is often asymptomatic. Cirrhosis with portal
been shown to help with sputum clearance and can be added hypertension is only reported in 23% of children with CF
into the treatment of a CF exacerbation. and 5% of adults. However, liver disease is the second most
common cause of death. There is increased incidence in those
who have had meconium ileus but otherwise it is unrelated
to genotype. Liver disease is three times more common in
boys. The pathogenesis of liver disease in CF is not entirely
understood. It is thought to be due to defects in biliary chloride
transport, leading to diminished bile salt production. The
liver often has fatty infiltrates as well. Stasis and obstruction
in the biliary tree then ensue. Also intrahepatic bile ducts
are often abnormally narrow and gallbladder abnormalities
are common. The diagnosis of liver disease is difficult as
liver enzymes may only be mildly elevated. Annual liver
ultrasounds are the best way of picking up early changes. The
treatment includes ursodeoxycholic acid, attention to nutrition
and vitamin K for those with abnormal coagulation studies.
there are people with CF who appear to have similar levels of Children with positive mantoux test and CXR changes
pancreatic damage but one is diabetic and one is not. There is, are usually admitted for 3 early morning gastric washings.
therefore, thought to be an additional genetic predisposition. This is the best way of obtaining an organism in a child.
Insulin is used in the management of cystic fibrosis related Young children are particularly at risk of TB meningitis.
diabetes (CFRD). Rifampicin, isoniazid, pyrazinamide and ethambutol are
common drugs used in TB. They are used in combination
Primary Ciliary Dyskinesia usually three drugs for 2 months and then rifampicin and
The respiratory tract is lined by ciliated mucosa. Muco- isoniazid are continued for a further 4 months. In parts of the
world where resistance to these drugs is a problem then other
ciliary clearance plays an important role in defending the
agents, e.g. streptomycin is used. Close follow-up is needed
lungs against bacteria. PCD is a rare autosomal recessive
and frequently children are put on directly observed therapy
condition in which the cilia beat abnormally and are
or DOTS where nursing staff observe the therapy being
structurally defective. This results in abnormal mucus
given three times a week.
clearance that causes frequent chest infections with chronic
cough and bronchiectasis. Males are usually infertile. Ear
BRONCHIOLITIS OBLITERANS
infections are common. Kartagener first described it in 1933
as a syndrome of bronchiectasis, situs inversus (where the Bronchiolitis obliterans is rare in children. It is a result of
heart and abdominal organs are located on the opposite sides an injury to the bronchioles and smaller airways. Repair of
of the body to normal and sinusitis. The diagnosis is made this leads to excessive granulation tissue that block airways.
by biopsy of the nasal mucosa and the material analysed for The airways then become obliterated by nodular masses of
ciliary movement and structure. Treatment of this condition granulation and fibrosis.
includes chest physiotherapy and prompt treatment of In children the majority of cases are post-infectious, e.g.
infections with antibiotics. adenovirus 3, 7 and 21, measles, influenza, mycoplasma
and pertussis. It can also occur in post-lung transplant. In
PULMONARY Tuberculosis many no obvious injury can be found. The symptoms of
bronchiolitis are usually persistence of cough, wheeze and
Tuberculosis (TB) is caused by infection with Mycobacterium breathlessness following viral like illness. Affected children
tuberculosis. TB is most common in the developing countries usually have persisting wheeze and crackles on auscultation.
of the world and is sustained in areas of poverty and They can significant hypoxia with cyanosis. It can also cause
deprivation. TB notifications steadily decreased in the 20th bronchiectasis and chronic respiratory failure.
century but have not decreased in the past decade. Significant The chest radiograph findings vary from normal to
cause of morbidity and mortality has worldwide. areas of hyperlucency, hyperinflation, to bronchial wall
In children the infection is spread from an adult thickening consolidation and bronchiectasis. The changes
who is infected and so-called sputum positive, i.e. may be bilateral or unilateral. The diagnosis of bronchiolitis
has Mycobacterium in their sputum. Children are rarely obliterans relies on high-resolution chest CT scan where
contagious as they rarely expectorate infected sputum. Spread areas of hyper-aeration, mosaic ground glass appearance
is more common with close household or school contacts. and bronchial wall thickening are seen. The treatment of
Pulmonary TB is caught by inhaling respiratory secretions bronchiolitis obliterans in children is difficult. In some cases
from an infected person when they cough or sneeze. The prednisolone has been used and appears to be of benefit.
bacteria then grow over several weeks and stimulate the Other reports suggest spontaneous remission. Some children
immune system as the body tries to kill the bacteria. In about still die of respiratory failure. Poor prognostic factors are
one-fifth of infected individuals this process is not effective age; children who are older do worse, atopy and also those
and the bacteria remain in a latent form. The M. tuberculosis who present in the winter. The reasons for these differences
can reactivate at any time leading to TB disease. Pulmonary are not known.
TB disease causes cough, night sweats and weight loss. Full
Guidelines for the management of TB can be found at www.
PNEUMOTHORAX
nice.org.uk.
All children who are known contacts of someone with Air in the pleural space is called pneumothorax. A tension
sputum positive TB should be seen and have a mantoux and pneumothorax is one where the air collection gets larger with
CXR performed. Blood tests for TB are based on detecting each breath and causes mediastinal shift to the opposite side of
tuberculous antigens, e.g. early secreted antigen target-6 the chest. The clinical signs of this are hyper-resonance and
(ESAT-6) and culture fibrate protein-10 (CFP-10). decreased air entry on the affected side with tracheal shift to
Respiratory Disorders 117
the opposite side. This is a life-threatening emergency, which children with neuromuscular weakness. The most serious
requires immediate resuscitation and needle decompression form of hypoventilation is congenital central hypoventilation
by placement of an intravenous cannula in the second syndrome (CCHS) where the infants ventilatory drive is
intercostal space in the midclavicular line on the affected impaired, and when the infant falls asleep they stop breathing.
side. A formal chest drain connected to an underwater seal This condition is fatal without treatment with ventilatory
should then be inserted usually in the 5th intercostal space in support.
the midaxillary line on the affected side.
Rarely, spontaneous pneumothoraces do occur and OBSTRUCTIVE SLEEP APNOEA
they can be associated with chest pain on the affected side
and breathlessness. Some of these may be due to rupture This is thought to affect 0.73% of children with the
of previously undiagnosed congenital lung bullae. Small majority being under 5 years of age. It is thought to
pneumothoraces do not need drained, as many will resolve result from a combination of problems with ventilatory
spontaneously. drive, neuromuscular control and anatomical factors. The
Most pneumothoraces in children are secondary to other classical features are loud snoring, pauses in breathing
problems. They can occur secondary to chest trauma, acute with gasping breaths at the end of an apnoea and abnormal
severe pneumonia, CF, as a complication of chest drain chest movement. This is associated with partial awakening.
insertion for pleural effusion or central line insertion or to Children with obstructive sleep apnoea (OSA) are often
foreign body inhalation. The CXR (Fig. 6.21) shows the restless. The disturbed sleep leads to daytime sleepiness,
appearance of a pneumothorax with the loss of lung markings irritability and poor concentration. Severe OSA in a young
and free air round the lung. In some severe pneumonic child can cause failure to thrive. An OSA in young children
processes the pleural air can actually be in pockets around is usually due to adenotonsillar hypertrophy. Upper airway
the lung and sometimes more than one chest drain is needed. congenital abnormalities, e.g. craniofacial abnormalities can
also cause OSA. Older children with OSA are often morbidly
obeseeither from eating too much or secondary to other
SLEEP DISORDERED BREATHING IN CHILDREN
conditions which cause excess weight gain. Conditions which
Sleep disordered breathing is increasingly recognised cause hypotonia, e.g. cerebral palsy can also lead to airways
in children. When asleep the normal childs breathing collapse and obstruction during sleep.
control changes and there is reduced muscle tone in the Children with suspected OSA need clinical examination
intercostal muscles and the pharyngeal dilator muscles. This and further investigation. This can include an overnight oxygen
increases airways resistance. Children with adenotonsillar saturation study which will document periods of hypoxia to full
hypertrophy who can breathe satisfactorily when awake polysomnography where oxygen saturation levels, respiratory
then develop significant obstruction to air flow when asleep. muscle movement, eye movements, airflow, heart rate and
Hypoventilation can also occur when asleep, particularly in electroencephalography (EEG) are recorded.
Children whose OSA is due to adenotonsillar hypertrophy
usually respond well to adenotonsillectomy. They start to
sleep better and most of the behaviour and concentration
problems improve. There are some concerns; however, that
there may be lasting neurodevelopmental consequences.
Children with underlying conditions and those obese children
who fail to lose weight need further treatment. Untreated
OSA with recurrent hypoxia and hypercapnia leads to
hypertension, left ventricular hypertrophy, cor pulmonale
and death. Pulmonary hypertension can also occur.
Treatment involves ventilatory support at night with
non-invasive ventilation using either a nasal or face mask
and a ventilator providing BiPAP support. This method
gives additional pressure support to aid breathing in both
inspiration and expiration. This is usually well tolerated
in children and significantly improves sleep quality by
correcting the hypoxia and hypercapnia. It can be difficult to
Fig. 6.21: Severe pneumonia with a large right-sided pneumothorax institute in children with significant neurological handicap,
in an intubated child particularly those with behaviour problems.
118 Hutchison's Paediatrics
a chest drain under general anaesthetic and consideration This child needs baseline oxygen saturation studies
of instillation of a fibrinolytic agent, e.g. Urokinase. done and an overnight saturation study. If this confirms
7. There are several options hereyou could add in an OSA then she requires adenotonsillectomy. If the sleep
inhaled long acting beta agonist, start a combination apnoea is severe then she will need a bed in the paediatric
preparation of an inhaled steroid and a long acting beta intensive care unit postoperatively. If the overnight
agonist or add a leukotriene receptor antagonist. saturation study is not diagnostic then polysomnography
8. Give oxygen, multi-dose with ventolin 10 puffs via spacer is indicated.
and repeat as needed depending on patient response. Give
oral prednisolone 2 mg/kg up to max of 40 mg per day. Acknowledgements
9. Doctor should examine for adenotonisillar hypertrophy Many thanks to the radiology staff at Yorkhill hospital for
which is likely the commonest cause of her symptoms. the images provided.
Krishna M Goel, Robert Carachi, Zulfiqar Ahmed Bhutta
C H A P T E R
Gastroenterology and
Hepatology 7
GASTROINTESTINAL AND LIVER DISEASE Normal infants should pass meconium within 24 hours
of birth. Delay to do so or failure to pass meconium is an
Introduction important sign, which should not be overlooked. Failure
to pass meconium may be due to an organic obstruction
The alimentary tract is a complicated viscous extending but subsequent passage may be a sign of disease such as
from the mouth to the anus with structural differentiation hypothyroidism or Hirschsprungs disease.
and adaptation according to the specific function needed. The The infant normally settles into a pattern of having one,
oesophagus is a passage from the pharynx to the stomach, two or more bowel actions daily but in diarrhoea, increased
where digestion begins. Food then moves into the small
frequency of passage of stools which become more liquid or
intestine, where further digestion and absorption occurs.
constipation are presenting signs of a variety of disorders. In
The large intestine reabsorbs 95% of water and completes
the early stages of intestinal obstruction, there may be little
absorption of digested products leaving the residue to be
abdominal distension, and any such distension may be difficult
expelled intermittently from the rectum.
The most common signs of alimentary tract disorders are to distinguish from the naturally protuberant abdomen of the
vomiting, abdominal distension and disorders of defaecation. newborn. Visible loops of bowel and peristalsis are abnormal
In the older infant and child, abdominal pain becomes the in the term or older infant, but in the thin-walled premature
most common symptom indicating dysfunction of the gut infant may not be indicative of obstruction. For surgical
and requires investigation of its cause. An adequate history paediatric problems, discussed in Chapters 10 (Neonatal
from the parents and child is most helpful in arriving at the Surgery) and 11 (General Paediatric Surgery).
correct diagnosis, and this may be followed by examination
and investigations. Many of the causes of abdominal pain Key Learning Point
are discussed later in the differential diagnosis of acute Bile-stained vomiting in the absence of an organic cause is
appendicitis. Most newborn babies vomit a few times a rare symptom, and infants and children with bile-stained
in the first week of life. A small quantity of milk is often vomit should be investigated in hospital.
regurgitated when wind is broken during or after feeding.
Persistent vomiting and vomiting in the older child is usually
a significant sign and may be associated with a wide variety GASTRO-OESOPHAGEAL REFLUX DISEASE
of pathological conditions. Infections of the alimentary tract (GORD)
such as gastroenteritis result in the infant or child presenting
with vomiting, which is also a common non-specific sign in Reflux of gastric contents is a physiologic occurrence that
other infections, e.g. meningitis, urinary tract infection or takes place more often during infancy and decreases with
septicaemia. Vomiting is the most consistent sign of intestinal advancing age. The vast majority of infants with gastro-
obstruction in the newborn. It usually starts in the first day oesophageal reflux (GOR) who are symptomatic of vomiting
of life and becomes progressively more frequent. The vomit during the first year of life resolve their overt symptoms
usually contains bile, as it is rare for the obstruction to be between the ages of 12 months and 18 months. Because most
above the ampulla of Vater. Bile-stained vomiting in the infants with symptoms of GOR are thriving and healthy, they
absence of an organic cause is rare, and infants and children require no diagnostic or therapeutic measures other than a
with bile-stained vomit should be investigated in hospital. careful history and physical examination, with appropriate
122 Hutchison's Paediatrics
reassurance to the parents if they are worried. An increase practice of paediatrics. In spite of the availability of
in the frequency and a decrease in the volume of feeds may sophisticated diagnostic tools, many paediatric patients
reduce symptoms. Also a feed thickener or prethickened with GI haemorrhage remain undiagnosed. However,
formula feed can be used. If necessary, a suitable alginate- differentiating upper GI from lower GI bleeding will guide
containing preparation can be used instead of thickened the sequence of diagnostic tests.
feeds. However, infants and older children who have Haematemesis is obviously a marker of upper GI
significant neurological deficits or psychomotor retardation haemorrhage and melaena a marker of lower GI bleeding.
often have significant GOR and may suffer from serious The term melaena signifies the passage of dark stools stained
sequelae secondary to GOR. Oesophageal inflammation with blood pigments or with altered blood. It is vital that only
(oesophagitis), ulceration or stricture formation may develop after exclusion of upper GI bleeding one should consider a
in early childhood; GORD may also be associated with colonic lesion in the case of melaena. On the other hand,
chronic respiratory disorders including asthma. Abnormal the passage of bloody stools (not dark or maroon) points
posturing with the tilting of the head to one side and bizarre to a colonic source of blood. Small intestinal bleeding may
contortions of the trunk has been noted in some children manifest as either melaena or fresh blood. The causes of GI
with GOR. These symptoms are often referred to as Sandifer haemorrhage are shown in Table 7.1.
syndrome.
The barium swallow is a sensitive way of detecting reflux Diagnosis
but has a very low specificity rate because many infants who A history of haematemesis is suggestive of an upper GI
have little or no clinical symptoms of GOR experience reflux bleeding lesion. Therefore upper GI endoscopy should be
of some barium into their oesophagus. However, a 24-hour carried out and it may lead to the diagnosis. Massive lower
pH probe study can give fairly reproducible information GI bleeding in children is uncommon. The presence of
on the amount of reflux that is occurring in an infant. Now leukocytes in the stool suggests an infectious or inflammatory
pH monitor can be done on children as outpatients with the diagnosis. Thus a stool specimen should be sent for culture
ambulatory device being read by an automatic system at a and identification of parasites. After anal inspection (digital
later date. rectal examination), a flexible sigmoidoscopy is indicated. If
Older children with significant GORD should be advised this is negative, a colonoscopy should be done to visualise
about changing their lifestyle such as weight reduction (if the entire colon and the terminal ileum. If melaena (dark
overweight) and avoidance of alcohol and smoking. Also an stool) is the presenting feature and upper GI endoscopy is
alginate-containing antacid can be used to relieve symptoms. negative, colonoscopy should be the next step. However, if
Children who do not respond to these measures may need
histamine H2-receptor antagonist to relieve symptoms of
GORD, promote mucosal healing and allow reduction in Table 7.1: Causes of gastrointestinal bleeding in children
antacid consumption. A proton pump inhibitor can be used Haemorrhagic disease of the newborn
for the treatment of moderate, non-erosive oesophagitis that
Swallowed maternal blood (neonate)
is unresponsive to an H2-receptor antagonist. Endoscopically
Infectious diarrhoea
confirmed erosive, ulcerative or stricturing disease in
children is usually treated with a proton pump inhibitor and Oesophageal varices
maintained at the minimum effective dose. Furthermore, Mallory-Weiss tear
evidence for the long-term efficacy of motility stimulants Gastric and duodenal ulcers
such as domperidone or erythromycin in the management of Meckels diverticulum
GOR in children is unconvincing. Intussusception
the diagnosis remains unclear, a Meckels scan may suggest be managed by repeated injections of sclerosants into the
a bleeding site. varices, thus allowing collaterals to develop and improve the
drainage from the portal venous system.
Treatment
Treatment of a massive GI haemorrhage is aimed at Peptic Ulcer
resuscitating the patient, localising the site of bleeding, Although rare in infancy and childhood, gastric and duodenal
and deciding on a treatment plan to stop the haemorrhage. ulcers may occur. Secondary ulcers (Curlings ulcers)
Treatment for mild bleeding depends on the lesions found. associated with severe infections or extensive burns have
become rare.
OESOPHAGEAL VARICES
Bleeding from oesophageal varices (Fig. 7.1) may be Clinical Features
sudden and profuse and cause exsanguination of the patient. Some of the vague abdominal pains, which are so common
Rapid and adequate transfusion is necessary. Emergency in childhood, may be due to undiagnosed peptic ulcer.
endoscopy should be undertaken in an attempt to establish Indeed, many of these patients may have paid several visits
this diagnosis and injection of varices with sclerosant agents to the hospital and seen several consultants, and eventually
may be commenced. If this is impossible, then control of the referred to the psychiatric department before an underlying
bleeding may be achieved by giving intravenous infusions of peptic ulcer may be diagnosed. While the disease may run
vasopressin or somatostatin. Tamponading of the oesophageal a silent course in infancy, in the older child, the clinical
and gastric varices may be possible with the Sengstaken tube. picture is similar to that in adult life. There is epigastric pain
Someone experienced in proper positioning of the balloons or discomfort relieved by eating; pain at night is common.
should do insertion of this tube, and it should be done under Vomiting an hour or two after food may follow pylorospasm
imaging control. The oesophageal balloon is blown up to a or actual scarring of the pylorus. There may be evidence
pressure of 40 mmHg. This pressure will have to be released of malnutrition. The disease may present with recurrent or
intermittently to prevent pressure necrosis. This measure severe haemorrhage or with perforation into the peritoneal
should only be undertaken in an attempt to resuscitate the cavity, which is very rare. Endoscopy is usually diagnostic
patient prior to more definitive treatment, which may include although barium meal is less invasive and if indicated may
surgical transection of the oesophagus or hemitransection of not always reveal a peptic ulcer. During endoscopy, biopsies
the stomach (Tanners operation). Emergency portocaval or of the pyloric antrum and the duodenal mucosa are examined
splenorenal shunting is rarely necessary in children. Most to establish the presence of Helicobacter pylori. The typical
patients with portal hypertension and variceal bleeding can appearance of nodular gastritis is highly suggestive of H.
pylori infection, especially in the paediatric population.
The urea breath test is the most reliable of the non-invasive
tests for H. pylori infection. If H. pylori are present, then
the association between them and peptic ulceration is quite
high and treatment should be given. Eradication of H. pylori
infection reduces the recurrence of primary duodenal ulcers
in children.
Treatment to eradicate H. pylori infection in children
consists of: one-week triple therapy regimen that comprises
omeprazole, amoxicillin and either clarithromycin or
metronidazole. There is normally no need to continue
antisecretory treatment (with a proton pump inhibitor or
H2-receptor antagonist) unless the ulcer is complicated by
haemorrhage or perforation. Resistance to clarithromycin or
to metronidazole is much more common than to amoxicillin
and can develop during treatment. A regimen containing
amoxicillin and clarithromycin is, therefore, recommended
for initial therapy and one containing amoxicillin and
metronidazole for eradication failure. Lansoprazole may be
Fig. 7.1: Barium swallow demonstrating oesophageal and considered if omeprazole is unsuitable. Treatment failure
gastric varices usually indicates antibacterial resistance or poor compliance.
124 Hutchison's Paediatrics
Two-weeks triple therapy regimens offer the possibility of or a duplication of the bowel but a negative scan does not
higher eradication rates compared to one-week regimens, but exclude either, as it is dependent on the presence of ectopic
adverse effects are common and poor compliance is likely to gastric mucosa.
offset any possible gain.
Key Learning Point
Key Learning Points
Acute anal fissure is the most common cause of rectal
Long-term healing of gastric and duodenal ulcers can be bleeding.
achieved rapidly by eradicating H. pylori.
Antacids have been used for many years in the treatment of
ulcer disease in infants and children. H2-receptor antagonists Rectal Prolapse
have made substantial impact on the clinical practice of Rectal prolapse may be partial when the mucous membrane
treating peptic ulcer disease. only is prolapsed or complete when there is protrusion of the
entire rectal wall (Fig. 7.2). The 13 years age group is the
usual age. Mucosal prolapse is more common and occurs
BLOOD PER RECTUM in children with chronic constipation and is usually initiated
Passage of blood from the rectum is common in paediatric by prolonged straining. Prolapse is sometimes the presenting
practice. The diagnosis may be straightforward and the cause sign of cystic fibrosis. Complete prolapse occurs in debilitated
obvious, but in many the cause of bleeding is never found or malnourished children. It is also seen in children with
even after a full investigation. Serious underlying causes paralysed pelvic floor muscles as in myelomeningocoele.
have to be excluded as outlined in Table 7.1. Parents usually notice the red mucosa coming out of the
Most children seen in the outpatient department with anus after defaecation. The prolapse has usually reduced
before the doctor sees the patient. On rectal examination the
rectal bleeding, pass only small quantities of blood after
anal sphincter is found to be very lax and redundant folds of
defaecation. Anal fissure is the most common cause, but
rectal mucosa often follow the withdrawn finger. The child
it may be due to rectal prolapse and proctitis. Acute anal
presenting for the first time with a rectal prolapse should
fissure is the most common cause of rectal bleeding. There
have a sweat test performed to exclude cystic fibrosis.
is usually a history of constipation and generally pain on
To the parent, a prolapse may be a terrifying event and it is
defaecation. The bleeding is usually small in amount, bright
important that the anxious parents are reassured. The prolapse
red, streaked on the outside of the stool and occurs during
may be reduced by simple pressure or by elevating the foot
or just after defaecation. The fissure is usually in the midline of the cot, or raising the buttocks on a pillow. Reversion to
posteriorly. Perianal redness and shallow fissures may be the nappies instead of squatting on the pot should be advised for 3
first sign of a granulomatous proctitis sometimes associated months from the last prolapse but reassurance that this will not
with Crohn disease. Most fissures are easily seen and
digital rectal examination without anaesthesia, which may
be very painful, is unnecessary and should be avoided. The
management of anal fissures includes stool softening and the
short-term use of a topical preparation containing a local
anaesthetic. Children with chronic anal fissures should be
referred to a hospital specialist for assessment and treatment
with a topical nitrate, or for surgery.
Moderate or extensive bleeding is infrequent, but the
common lesions are rectal polyps, enteritis or enterocolitis,
intussusception, Meckels diverticulum, volvulus, duplication
of the alimentary tract, haemangiomas in the bowel, systemic
haemorrhagic disease and in the neonate, necrotising
enterocolitis (NEC) and haemorrhagic disease of the
newborn.
Digital rectal examination, proctoscopy, sigmoidoscopy,
colonoscopy and barium enema may show up the lesion
which can then be treated appropriately. A Technetium scan Fig. 7.2: Rectal prolapse in a child subsequently confirmed as having
may be necessary to demonstrate a Meckels diverticulum cystic fibrosis
Gastroenterology and Hepatology 125
interfere with long-term defaecation control is necessary. For It may be accompanied by nausea and vomiting. Physical
persistent or frequently recurring prolapse the buttocks may examination should be complete and not only directed
be strapped together and the child given a laxative. In most towards the abdomen. It is unusual to find any definite signs
instances, once the stool is softened, the prolapse becomes on abdominal examination and it may be difficult to assess
less of a problem and rectal prolapse in children is usually a the severity of the pain. Questions, which should be asked,
self-curing condition. Only very rarely is it necessary to treat of the pain are:
this surgically with injection of phenol in olive oil into the 1. What is the duration of each attack?
submucosa of the rectum or by a perianal stitch. 2. Is the child ever sent home from school due to the pain?
3. Does it interfere with games or does it become worse
Key Learning Point
when there are household chores to be done or errands
A child presenting for the first time with a rectal prolapse collected?
should have a sweat test to exclude cystic fibrosis. 4. Does the pain ever wake up the child from sleep?
Constipation should always be eliminated in these
Intestinal polyps cases and the presence of dysuria, increased frequency
of micturition, pyuria or haematuria call for urological
A solitary rectal polyp is a common cause of bleeding from investigation. Plain X-rays of abdomen may be useful to
the rectum. This low polyp is easily felt on digital rectal reveal a faecalith in an appendix, calcification in mesenteric
examination. The polyp is a granulomatous hamartoma of glands, or calculus formation in the renal tract. Barium meal
the mucous membrane, which becomes pedunculated and or barium enema examination may reveal such lesions such
may protrude at the anus like rectal mucosa prolapse. Polyps as polyps, peptic ulceration or malrotation, which can be a
high in the rectum and lower colon require sigmoidoscopy cause of chronic abdominal pain. In the female, recurrent
under general anaesthesia and may be removed by snaring. abdominal pain may precede by many months the onset of
Occasionally, juvenile polyps are multiple and may be the first menstrual period (menarche). When organic disease
demonstrated by double contrast studies. True familial has been reasonably excluded, the proportion of patients who
polyposis is very rare under the age of 12 years, but the rectum are found to be suffering from emotional disorders is related
and colon can be carpeted with polyps, which histologically to the degree of skill and experience in the diagnosis. The
are papillomas or adenomas of the adult type. This disease term abdominal migraine covers a group of patients who
is usually carried as a Mendelian dominant and cancer of the suffer from recurrent attacks of acute, midline abdominal
colon develops in young adult life. Peutz-Jeghers syndrome is pain, vomiting and headache, photophobia during episodes,
a familial condition in which polyps of the small intestine are family history of migraine with intervening symptom-free
accompanied by brown pigmentation of the lips and buccal intervals lasting weeks to months.
mucosa. Symptoms and signs include repeated episodes of Management of the child with recurrent abdominal pain
abdominal pain due to transient intussusceptions, blood loss after treatable causes have been excluded is by reassurance
from the intestinal tract and anaemia. to the patient and parents that there is no serious underlying
disease and that symptomatic treatment until the child
INFANTILE COLIC outgrows the problem is indicated.
Infantile colic is defined as excessive crying in an otherwise
healthy infant. The crying usually starts in the first few weeks APPENDICITIS
of life and ends by 45 months. The cause is unclear. It may Acute appendicitis is the most common lesion requiring
represent part of the normal pattern of infantile crying. Other intra-abdominal surgery in childhood. The disease runs a
possible explanations are painful intestinal contractions, more rapid course in children and the criteria for establishing
lactose intolerance, gas or parental misinterpretation of a diagnosis and for treatment are different. Under the age of
normal crying. Infantile colic improves with time. four, the diagnosis is difficult and in 90% the infection has
spread transmurally to the peritoneal cavity or the appendix
Recurrent Abdominal Pain in children has ruptured.
Recurring and unexplained abdominal pain often presents a
difficult problem to the family doctor and to both the paediatric Pathology
physician and surgeon. Most of these patients do not have There is marked variation in the anatomy of the appendix.
underlying disease; however, they often require evaluation The appendix is attached to the posterior medial quadrant of
and treatment to allay fears and improve their quality of the caecum. In childhood, the appendix lies in a retrocaecal
life. The pain may amount to little more than discomfort. position in 70% of patients. Obstructive appendicitis is
126 Hutchison's Paediatrics
Presence of a common cold, sinusitis, acute tonsillitis, in the erect and supine positions should be carried out to
pharyngitis may all be associated with acute non-specific differentiate intestinal obstruction from appendicitis.
mesenteric lymphadenitis. This is the most common condition Primary peritonitis is an uncommon diagnosis and
to be differentiated from acute appendicitis. The presence almost always affects the female. There is a diffuse infection
of enlarged glands elsewhere in the body accompanied of the visceral and parietal peritoneum usually due to a
with an upper respiratory tract infection may suggest this pneumococcus. With the peritonitis there is exudation of fluid
condition. Fever may be absent but temperature can be very to the peritoneal cavity. Mesenteric lymph nodes are swollen.
high. The presence of abdominal tenderness is not as acute Diffuse abdominal pain, vomiting, dehydration and a high
as that in appendicitis. It is usually more generalised and fever are the main features and diarrhoea may be present
not localised to the right iliac fossa and there is no rebound initially, but is usually followed by constipation. Rectal
tenderness. The presence of a cough increased respiratory examination usually is suggestive of a pelvic appendicitis as
rate and runny nose may suggest a respiratory infection. there is diffuse tenderness and heat present. The white blood
Examination of the chest is mandatory to pick up any signs cell count is usually grossly elevated from 20,000 to 50,000
of consolidation as right lower lobe pneumonia may result per cu mm. The diagnosis is usually made at laparotomy
in referred pain occurring in the right lower quadrant of the when peritonitis is found but the appendix is normal.
abdomen. Constipation can cause abdominal pain, nausea Severe abdominal pain and vomiting may occur during
and vomiting, with tenderness over the distended caecum. It passage of a renal calculus. Hydronephrosis due to blockage
can be easily mistaken for acute appendicitis. Faecal masses of the pelviureteric junction by stricture, stone or aberrant
may be felt per abdomen or on digital rectal examination. vessel may present with abdominal pain and nausea. The
Usually following a suppository, satisfactory evacuation of pain and tenderness are maximal in the flank. Red or white
the colon and rectum will bring rapid relief in patients whose blood cells may be found in the urine.
symptoms are caused by constipation. Haemolytic uraemic syndrome may present with acute
Urinary tract infection can usually be differentiated by abdominal pain and may be confused with acute appendicitis.
a higher temperature, pus cells in the urine, and tenderness The presence of fragmented red blood cells on a blood film
over one or other kidney in the renal angle. and also the presence of oliguria are suggestive of this
Abdominal trauma, accidental or non-accidental may disease.
cause injury to the abdominal viscera. A plain X-ray of the Crohn disease is an uncommon diagnosis in childhood
abdomen and a serum amylase should be done to exclude but the incidence is increasing in Western countries. It can
the presence of traumatic or idiopathic pancreatitis and a present with all the symptoms of acute appendicitis and at
pneumoperitoneum. operation the terminal ileum is found to be acutely inflamed
In gastroenteritis and dysentery, there may be severe and thickened. A biopsy reveals the diagnosis and barium
cramping and abdominal pain. The pain and tenderness may meal and follow-through very often indicates the presence of
be more marked over the distended caecum. Other members other areas of the affected gut.
of the family may have similar symptoms or diarrhoea. In torsion of the right cord or testis, confusion with acute
Rectal examination can help differentiate between a pelvic appendicitis may occur whereas this is less likely with torsion
appendicitis and appendicitis with pelvic peritonitis from of the left testis. Routine examination should always include
gastroenteritis. the inguinal regions and the scrotum.
Infective hepatitis may occur in epidemic form, but in Inflammation of Meckels diverticulum and intussus
an isolated case may simulate appendicitis. The temperature ception in older children may simulate acute appendicitis.
is usually elevated and the child complains of a headache Other medical conditions, which should be considered, are
with nausea, vomiting, abdominal pain and tenderness. On those of diabetes mellitus, cyclical vomiting and Addisons
examination, the liver is enlarged and tender. The child may disease. The onset of menstruation may simulate appendicitis
or may not be jaundiced depending on whether he is seen in and many girls have recurring attacks of lower abdominal
the prodromal phase of the disease. Examination of the urine pain, sometimes for a year before menstruation actually
usually reveals the presence of bile salts, but urobilinogen begins. Pain associated with torsion of an ovary or an ovarian
may be present. cyst may also present with signs similar to those of acute
Intestinal obstruction may be due to incarceration of a appendicitis.
hernia, secondary to anomalies, e.g. a volvulus around a It is not uncommon for children to harbour threadworms
vitellointestinal remnant, or adhesions following previous (pinworms) without noticeable symptoms. Many symptoms
abdominal operations. Vomiting, abdominal colic, abdominal and signs have been ascribed to the presence of threadworms
distension and constipation are the usual signs. After a including weight loss, poor appetite, nausea, vomiting and
thorough clinical examination, plain X-ray of the abdomen chronic abdominal pain.
128 Hutchison's Paediatrics
Carcinoid tumour in the appendix is rare in childhood, under a general anaesthetic and insertion of a Penrose drain
but the tumour may obstruct the lumen of the appendix and to maintain a route to the surface will help clear the pelvic
lead to obstructive appendicitis. It is far more common to collection. There is no evidence to substantiate the claim that
find this as an incidental finding on histopathology of the pelvic peritonitis in the young female may lead to sterility in
removed appendix. When it is present in the tip of the adult life. Subphrenic collections have become extremely rare
appendix, no further follow-up is necessary in these cases. In in children even in those who have had diffuse peritonitis.
older children, if a carcinoid exists in the caecal region there Early postoperative intestinal obstruction is usually due
is a chance of invasive disease with subsequent evidence of to impaired motility of matted loops of ileum lying in pus
the carcinoid syndrome. Treatment should include a right in the pelvis. Treatment is by antibiotics, intravenous fluids
hemicolectomy and careful follow-up with MIBG scan and and continuous nasogastric suction. With this conservative
measurement of 5-HIAA. management resolution is usual and very few require surgical
intervention. If there is volvulus or a closed loop situation
Treatment then earlier surgical intervention is mandatory in order to
The treatment of the child with acute appendicitis is early relieve the distension and prevent devascularisation of part
operation. In the toxic child with peritonitis, time may be of the bowel.
profitably spent in combating toxaemia and dehydration. It Respiratory complications are seldom severe. Mild
is important to resuscitate the patient and start intravenous atelectasis is not uncommon and infection of a collapsed area
antibiotics before surgery is undertaken. In such cases, should be prevented with help from physiotherapists and
metronidazole, ceftazidime and cefotaxime should be given breathing exercises. Faecal fistula is rare and may be due
intravenously. The institution of intravenous antibiotics given to necrosis of part of the caecal wall. The fistula usually
as three doses pre, per and postoperatively with peritoneal closes spontaneously with conservative treatment. Rarely a
lavage in children with peritonitis has considerably reduced faecalith may have escaped from the necrotic appendix at
the incidence of postoperative complications. In children, the original operation and lie in the peritoneal cavity. This
early appendicectomy is indicated in the child with appendix causes persistence of a fistula until the faecalith is removed.
abscess. This hastens the recovery period and allows much
Foreign Bodies
earlier discharge from hospital.
The best access to the appendix with the minimal Children frequently place objects in their mouth and
disturbance of the peritoneal cavity is through a gridiron or occasionally accidentally swallow them. Most pass down
lance incision and appendicectomy is performed. There is the alimentary tract and out of the anus in 2448 hours, but
an increasing trend to perform appendicectomy by minimal occasionally the coin, pin or toy may stick in the oesophagus.
invasive surgical techniques rather than open operation. This causes discomfort and inability to swallow freely.
Postoperative complication such as wound infection is the The offending foreign body may be removed by passing a
most common complication following appendicitis. Since the catheter beyond the foreign body, inflating a balloon on the
introduction of metronidazole and cefotaxime given routinely distal end of the catheter, prior to withdrawing the catheter
to patients who have appendicectomy, the incidence of wound and the object proximal to it. If this fails, removal under
infection has dropped significantly. Evidence of infection direct vision through an endoscope under anaesthesia is the
may be obvious within a day or two of the operation or may preferred method.
be delayed for several weeks. There is a rise in temperature, Most foreign bodies, which reach the stomach ultimately,
local tenderness of the wound, and redness and swelling. Pus pass spontaneously. Two exceptions to the wait and see
may be released by inserting sinus forceps into the edge of approach are the hairball and batteries. The formation of
the wound to allow it to be discharged. a hairball (trichobezoar) may be followed by poor health
Localised intraperitoneal abscesses may form after the and vague abdominal pain as the gastric lumen becomes
subsidence of a diffuse peritonitis particularly in the pelvis. partially occluded by a dense mass. The history of hair eating
Fever may fail to resolve and there is usually lower abdominal (trichotillomania) is rarely given spontaneously by the child
pain, tenderness and even diarrhoea with increased frequency or the parents. A mass may be palpated in the epigastrium.
of micturition. There may also be abdominal distension due Diagnosis is confirmed by endoscopy or X-ray after a barium
to an associated ileus affecting the terminal ileum. On digital swallow. The hairball may be passed spontaneously but
rectal examination, a tender swelling is felt anteriorly. Many gastrostomy may be required. Children swallow small alkaline
pelvic collections resolve on intravenous antibiotics, and very batteries and the gastric juice may interact with them and if
occasionally pus may be evacuated spontaneously through the left may cause severe ulceration. These should not be allowed
rectum. Alternatively, drainage through the original incision to remain in the stomach for more than 48 hours and may be
Gastroenterology and Hepatology 129
removed endoscopically or by gastrotomy under anaesthesia. incidence in the United States. The severity of the disease is
All other swallowed foreign bodies pass uneventfully through variable from a minor form seen in many cases, which are
the GI tract once they have reached the stomach. managed entirely in the neonatal units, to a fulminating type
of the disease with perforation, peritonitis and death.
Key Learning Point Initially, one sees a preterm infant with signs of sepsis,
Ingested foreign bodies: Wait and See vomiting of feeds, abdominal distension and frequently the
Most ingested foreign bodies, which reach the stomach passage of blood or mucus in the stools. Clostridial infections
ultimately, pass uneventfully through the GI tract. have been associated with some outbreaks of NEC. If the
disease continues to progress peritonism develops and this is
often appreciated first by nursing staff observing abdominal
NecrotiSing Enterocolitis distension.
Examination of the abdomen may show signs of
Necrotising enterocolitis is a severe disease of the GI tract. inflammation, redness, oedema of the abdominal wall with
Prematurity or low birth weight is the most commonly localised or generalised tenderness, and if the baby has a
associated factor and occurs in 90% of babies with this patent processus vaginalis, free fluid or even gas or meconium
disease. Term infants are affected to a lesser extent and is occasionally seen in the scrotum. If a perforation has
constitute about 10% of the affected group. Hypovolaemia occurred then one loses the area of superficial dullness of the
and hypoxia result in damage within the mucosa cells liver on percussion of the abdomen. Palpation may reveal
initiating the NEC. It is often multifactorial in origin, crepitus from the intramural gas, which can be palpated
resulting in loss of integrity of the gut mucosal barrier with among the coils of distended loops of bowel, and this is an
passage of bacteria into the wall of the bowel. important sign of NEC.
Prematurity, respiratory distress syndrome (RDS), A plain X-ray of abdomen (Figs 7.4A to C) may show
congenital cardiac malformations, umbilical vessel cathe pneumatosis intestinalis (gas within the bowel wall) and gas
terisation, exchange transfusions, hypoglycaemia, poly in the portal vein and liver. This sign is often an ominous one
cythaemia, postoperative stress and hyperosmolar feeds with a very high mortality. The extent of the NEC may be
have all been implicated in the aetiology. Bacterial infection localised to an area of the bowel, very often the colon, but in
has been implicated in NEC and from time to time one sees extensive disease the whole of the GI tract may be involved.
some confirmation of this due to the clustering of the disease The differential diagnosis early in this disease may be
in neonatal units. There are protective antibodies in breast difficult and one should consider the following diagnoses:
milk, which decreases but does not completely protect babies Septicaemia from other causes
at risk from NEC. Volvulus neonatorum
The incidence of this disease varies from country to Hirschsprungs enteritis
country. There is a very low incidence in Japan and a high Infarction of the bowel.
A B C
Figs 7.4A to C: (A) Abdominal X-ray of premature infant showing pneumatosis (see arrows); (B) The free air in peritoneal cavity
indicates perforation; (C) Barium enema showing extensive pneumatosis coli
130 Hutchison's Paediatrics
underlying medical condition such as adrenogenital syndrome or passed in the stool. Typical clinical features include: a
or chronic renal insufficiency is present or when outpatient protuberant abdomen, intermittent intestinal colic, digestive
management has failed or is thought to be inappropriate due disturbance, general debility, loss of appetite and insomnia.
to adverse social or other circumstances. In heavy infections, worms may migrate into and block
the bile duct producing jaundice while similar blocking
PARASITIC INTESTINAL INFECTION of the appendix can cause appendicitis. In very heavy
infections, intestinal obstruction can occur from a tangled
It is estimated that between 800 million and 1,000 million
ball of roundworms. The presence and extent of roundworm
people in the world are suffering from at least one type of
infection is readily detected by microscopical examination of
worm infection. The most important intestinal worms are
the stools for ova.
nematodes and cestodes.
Piperazine citrate in a single oral dose of 75 mg/kg to
a maximum single dose of 5 g will clear roundworm from
NEMATODES 75% of patients. Two doses on successive days give a
These are round, elongated, non-segmented worms with marginally higher cure rate. Piperazine citrate has minimum
differentiation of the sexes. adverse effectsvery occasionally unsteadiness and vertigo.
Mebendazole is active against threadworm, whipworm
Roundworm (Ascaris lumbricoides) and as well as roundworm infections and can be safely
recommended for children over the age of 2 years. A dose of
Mode of Infection
100 mg twice daily for 3 days is effective. Mebendazole is
Infection arises from swallowing ova from soil contaminated generally considered to be the drug of choice. Levamisole is
with human excreta. The ova are not embryonated when an alternative when mebendazole cannot be used.
passed in the faeces but they become infective in soil or
water. When swallowed by man the hatched larvae penetrate Hookworms (Ankylostoma duodenale and
the intestinal wall and pass via the liver and lungs to the Necator americanus)
trachea, oesophagus, stomach and intestine where they grow
There are two types of hookworms: (1) Ankylostoma
into mature worms (Fig. 7.5).
duodenale being most commonly found in Egypt, Africa, India
Clinical Effects and Queensland, and also in the Southern USA and (2) Necator
americanus, which is found in the Americas, the Philippines
A few roundworms in a well-fed patient usually produce no and India. These two species differ in small anatomical details
ill effects and are not noticed until a worm is either vomited but their life cycles are identical (Fig. 7.6). The male and
Treatment
Children with severe anaemia and malnutrition should have
blood transfusion and nutritional support before definitive
worm therapy is started. Mebendazole has a useful broad-
spectrum activity and is effective against hookworms; the
usual dose for children over one year of age is 100 mg twice
daily for 3 days. Albendazole given as a single dose of 400
mg in children over 2 years is an alternative. Levamisole is
also effective.
pain. The association of appendicitis with threadworms is Recently thiabendazole 50 mg/kg body weight for 35
exceptionally rare. Diagnosis is made by direct examination days has been shown to kill encysted larvae and is especially
of the worms or ova trapped by sellotape applied sticky useful for early ocular lesions. Normally the visceral variety
side to the anal skin early in the morning and then stuck on is self-limiting and requires no treatment. Regular and
to a glass slide. routine deworming of puppies and pregnant bitches with
Mebendazole is the drug of choice for treating threadworm mebendazole, prevention of face licking by dogs and the need
infection in children over 6 months. It is given as a single to wash hands carefully after handling pets are preventative
dose as reinfection is very common, a second dose may be health measures. Multiple infections respond to invermectin,
given after 2 weeks. Piperazine is also effective. Measures albendazole or thiabendazole by mouth.
to break the cycle of reinfection should be taken and these
include scrupulous personal hygiene, boiling all infected CESTODES
linen and the wearing of occlusive clothing to prevent
Cestodes (tapeworms) of importance to humans are Taenia
scratching. Treatment should also be given to other members
saginata (beef tapeworm), T. solium (pork tapeworm),
of the family and it should be reinstituted when symptoms
Hymenolepis species (dwarf tapeworm), and T. echinococcus
recur and eggs are again found in the perineal area.
(hydatid cyst).
Larva Migrans The ingestion of raw or inadequately cooked beef or
pork can result in human infection. Man is the definitive
Cutaneous Variety (Creeping Eruption) host for both the beef (T. saginata) and pork (T. solium)
Cutaneous larva migrans is caused by the infective larvae of tapeworms. Although the infections may be asymptomatic,
various dog and cat hookworms. These larvae can penetrate epigastric discomfort, increased appetite, dizziness and loss
the human skin and finding themselves in an unsuitable of weight sometimes occur. These features may be more
habitat wander around in the epidermis for several weeks. marked in children and debilitated persons. Diagnosis is
Their progress is marked by a characteristic itching and a based on the passage of gravid segments through the anus.
serpiginous urticarial track. The infection is more common The differentiation can be made by a microscopical study of
in children than in adults and is occasionally seen in people the number of lateral branches in the gravid uterus of each
recently returned from tropical countries. segment, the uterus of T. solium having about 10 branches
Treatment by freezing the advancing end of the track and that of T. saginata about 20.
with dry ice or liquid nitrogen is no longer recommended. With T. solium infection a major danger is the ingestion
Applications of topical 15% thiabendazole powder in water of eggs from an infected person (heteroinfection) or self-
soluble base with or without diethylcarbamazine 5 mg/kg per ingestion of eggs (autoinfection). This can give rise to
day for 7 days will eliminate the larvae. Multiple infections cysticercosis where cysticerci develop almost anywhere
respond to invermectin, albendazole or thiabendazole by including brain, skin, muscle and eye.
mouth.
Taenia Echinococcus (Hydatid Cyst)
Visceral Variety The definitive host of T. echinococcus is the dog, wolf, fox or
This is caused by various species of the nematode Toxocara, jackal. Man and sheep may become the intermediate host by
usually Toxocara canis the common roundworm of the dog. swallowing the ova from the dog and this is especially likely
The larvae may penetrate the intestinal wall but are unable to in sheep-rearing countries. The adult worm in the dog is very
migrate to the lungs of their unnatural host and pass through small (0.5 cm) but the ingested ovum when swallowed by
or become encysted in liver, lungs, kidneys, heart, muscle, man liberates a 6-hooked oncosphere into the small intestine.
brain or eye, causing an intense local tissue reaction. The child This penetrates to the tissues, usually the liver but sometimes
may fail to thrive, develop anaemia and become pyrexial with lung, bones, kidneys or brain to form a hydatid cyst. This
a cough, wheeze and hepatosplenomegaly. There is usually has a 3-layered wallan outer layer of host fibrous tissue,
a marked eosinophilia and there can be CNS involvement. In a laminated middle layer and an inner germinal layer that
addition to this generalised form of the disorder, there may produces many daughter and granddaughter cysts.
in the older child (79 years old), isolated loss of sight in
one eye associated with ocular toxocariasis. The diagnosis Clinical Effects
can only be established with certainty from a tissue biopsy; These are largely due to local pressure effects. The liver
generally taken from the liver and the Toxocara ELISA test may be greatly enlarged and there may be a palpable
is a useful screen. rounded swelling over which the classical hydatid thrill
134 Hutchison's Paediatrics
can be elicited. Ultrasound and CT scanning can reveal the Table 7.2: Clinical features of ulcerative colitis and Crohn disease
cystic nature of the lesions. Eosinophilia may be marked.
Clinical features Ulcerative colitis Crohn
The diagnosis may be confirmed by complement fixation, disease
haemagglutination or latex-slide agglutination tests but the
Location Rectum and colon Ileum and right
hydatid ELISA test and improved immunoelectrophoresis (variable) colon
tests are likely to prove more specific.
Diarrhoea Severe Moderate
Mild infestations due to Hymenolepis (dwarf tapeworm) little change in the incidence of ulcerative colitis but Crohn
cause no symptoms, but heavy infestations can sometimes disease has increased. The reason for the change is not clear.
cause diarrhoea, irritability and fits. Diagnosis is made by Severe behavioural problems in some of the affected
finding the typical ova in the faeces. children and their families have sometimes led physicians
to regard the disease as a psychosomatic disorder, but the
Treatment evidence in support of this hypothesis is extremely slender.
Niclosamide is the most widely used drug for tapeworm Food allergy has been suspected, but only a small group of
infections and side effects are limited to occasional GI upset, patients respond to withdrawal of milk. Boys and girls are
light-headedness and pruritus. It is not effective against equally affected. The mean age of onset is about 10 years.
larval forms. A laxative may be given 2 hours after the dose; There is no clear-cut inheritance pattern but ulcerative colitis
an antiemetic may be given before treatment. is more common in first-degree relatives than in the general
population.
Praziquantel is as effective as niclosamide and is given
to children over 4 years of age as a single dose of 1020 Pathology
mg/kg after a light breakfast (or as a single dose of 25 mg/kg
for Hymenolepis nana). The mucous membrane of part or all of the colon and
sometimes of the terminal ileum becomes hyperaemic,
oedematous and ulcerated. The lesion is continuous rather
INFLAMMATORY BOWEL DISEASE
than patchy and usually involves only the mucosal and
The term inflammatory bowel disease (IBD) includes two submucosal layers. The earliest lesion in many cases is
clinical conditions in children, ulcerative colitis and Crohn a crypt abscess (Fig. 7.8). Granuloma formation is rare.
disease (Table 7.2). On the whole the prognosis of chronic In some cases, oedema may give rise to pseudopolypoid
IBD in childhood is good. nodules. Ulceration may extend through the muscularis and
perforation of the colon can occur. Usually perforation is
Ulcerative Colitis preceded by toxic megacolon with dilatation of an ulcerated
segment of the large bowel. Carcinoma is a common late
Aetiology complication. Hepatic complications such as sclerosing
The aetiology is unknown. It is fortunately rare in children. cholangitis and chronic active hepatitis can occur with
Over the past decade, it would appear that there has been ulcerative colitis in childhood.
Gastroenterology and Hepatology 135
Clinical Features
The onset is sudden with diarrhoea and the frequent passage Fig. 7.9: Barium enema showing loss of normal haustrations (lead-
of small stools containing blood and mucus. This tends to pipe appearance in the colon) in ulcerative colitis
be most severe during the early morning but may also be
nocturnal. There may be abdominal pain, anorexia, weight Crohn Disease
loss or poor weight gain. Tenesmus is common.
Hypochromic anaemia due to chronic blood loss is almost Aetiology
invariably present. Hypoproteinaemic oedema may develop. This disorder like ulcerative colitis is not common in children
Associated extraintestinal manifestations of the disease are and it is of unknown cause.
more common in children than in adults. They may include
erythema nodosum, aphthous stomatitis, conjunctivitis, Pathology
iridocyclitis, haemolytic anaemia, arthralgia or arthritis, Crohn disease may affect any part of the GI tract but
pyoderma gangrenosum and finger-clubbing. most commonly the terminal ileum and proximal colon.
After exclusion of infective causes of bloody diarrhoea Although any part of the GI tract from mouth to anus may
the diagnosis should be confirmed by rectosigmoidoscopy, be affected. The lesions are basically chronic granulomatous
mucosal biopsy and barium enema. The last shows loss of and inflammatory with a tendency towards remissions and
normal haustrations in the colon and the so-called lead- relapses. The histological changes are transmural, i.e.
pipe appearance (Fig. 7.9). Colonoscopy may allow the affecting all layers of the bowel wall with oedema and
examination of the whole colonic mucosa and thus the ulceration of the mucosa, fissures, submucosal fibrosis and
extent of the disease. Radiologically differentiation of Crohn many inflammatory foci of mononuclear and giant cells
disease from ulcerative colitis can be made on the basis that (Figs 7.10 and 7.11). Perforation, haemorrhage and fistula
Crohn disease can affect any part of the GI tract and is patchy formation are uncommon complications in childhood.
in distribution, whereas ulcerative colitis is a continuous
lesion affecting only the rectum, colon and occasionally the Clinical Features
terminal ileum (backwash ileitis). It is worth remembering In Crohn disease the diarrhoea is much less severe than in
that early in the course of disease no X-ray abnormality may ulcerative colitis; it is often intermittent and there may be
be found. little or no obvious blood or mucus in the stools. Crohn
Ulcerative colitis frequently runs an acute course in the disease presents with less specific signs and symptoms than
child. The cumulative risk of carcinoma of the colon is 20% ulcerative colitis hence the delay in diagnosis often found in
per decade after the first decade of the illness. Dysplastic Crohn disease.
changes in the colonic epithelium are considered to be General manifestations commonly include anaemia, loss
premalignant. of weight, growth failure, pubertal delay, erythematous
136 Hutchison's Paediatrics
Fig. 7.10: Crohn disease. Open loop of ileum showing typical cob-
blestone appearance of the mucosa
Prognosis
Fig. 7.11: Crohn disease showing a diagnostic granuloma in the Crohn disease is a lifelong condition, with periods of active
lamina propria of a colonic biopsy with a central collection of epithe-
lioid and multinucleate cells surrounded by a cuff of lymphocytes and disease alternating with periods of remission.
plasma cells (obj x 25)
Treatment of Ulcerative Colitis and Crohn Disease
rashes and a low-grade fever. Other associated features are: To date, the standard therapies for Crohn disease and
erythema nodosum, pyoderma, iridocyclitis, arthralgia or ulcerative colitis have been similar and in general can be
arthritis, spondylitis, finger-clubbing, anal skin tags, fissures classified as anti-inflammatory, or immunosuppressive
and fistulae. Quite frequently the disease presents with oral therapy. 5-Aminosalicylic acid compounds, antibiotics,
ulceration and this may progress to extensive involvement and nutritional therapy usually are considered as anti-
of the buccal mucosa, which becomes oedematous and inflammatory, whereas 6-mercaptopurine, azathioprine,
granulomatous sometimes years before there is evidence of cyclosporin A, and methotrexate have immunosuppressive
intestinal involvement. There is no single gold standard for the properties. Some therapies, such as corticosteroids have
diagnosis of Crohn disease. The diagnosis is made by clinical both.
evaluation and a combination of endoscopic, histological, The general principle of IBD (irritable bowel disease)
radiological and biochemical investigations. Sigmoidoscopy treatment mainly depends on the disease severity and it aims
is only helpful when the left side of the colon is involved. A with the treatment that has the best possible chance of obtaining
barium meal or enema typically shows segmental involvement clinical remission with the fewest side effects. However,
of the small bowel and/or colon, sometimes with intervening depending on the childs therapeutic responses or lack
areas of normal bowel (Fig. 7.12). Crohn disease shows thereof, additional medications are added to the therapeutic
a segmental lesion while ulcerative colitis is diffuse. The regimen. Some of the differences in therapy between
appearances vary from a cobblestone appearance due to Crohn and ulcerative colitis include surgical intervention,
Gastroenterology and Hepatology 137
antibiotics, and nutritional therapy. The surgical intervention cereals, wheat, rye and barley. CD is associated strongly
is used in both ulcerative colitis and Crohn disease but is only with HLA class 11 antigens DQ2 and DQ8 located on
curative in ulcerative colitis and is reserved exclusively for chromosome 6p21. CD is frequent in developed world and
localised Crohn disease such as strictures and fistulas. The increasingly found in some areas of the developing world,
antibiotic therapy is beneficial in Crohn disease, whereas e.g. North Africa and India.
it has been used rarely in ulcerative colitis. The nutritional
therapy is vital from the growth perspective in both diseases Pathology
but is shown to be effective in the control of Crohn disease Histological features have been defined mainly from study of
symptoms only. So due attention should be paid to diet; high jejunal biopsy specimens. The most characteristic appearance
fibre or low residue diet should be used as appropriate. is called total villous atrophy in which the mucosa is flat
Recently advances in immunology have led to discovery and devoid of normal villi but the underlying glandular
of several new immunotherapies referred to as biologics. layer is thickened and shows marked plasma-cell infiltration
Together with infliximab, which has been approved for (Figs 7.13A and B). Absence of villi has been confirmed
the treatment of Crohn disease, other biologic therapies by electron microscopy. In other cases, however, there is
may be available in the near future. However, infliximab subtotal villous atrophy in which short, broad and thickened
is recommended for the treatment of severe active Crohn villi are seen. Children with dermatitis herpetiformis also
disease (with or without fistulae) when treatment with have an intestinal lesion similar to that of CD.
immunomodulating drugs and corticosteroids has failed
or is not tolerated and when surgery is inappropriate. Clinical Features
Infliximab is not recommended for the treatment of sub-acute These do not develop until gluten-containing foods are
manifestations of moderate to severe active ulcerative colitis introduced into the infants diet. In many cases the first signs
that would normally be managed in an outpatient setting. are noted in the last 3 months of the first year of life, but
the child may not be brought to the doctor until the second
COELIAC DISEASE year. Delayed introduction of wheat containing cereals into
(GLUTEN-SENSITIVE ENTEROPATHY) the diet of infants in recent years has resulted in the later
onset of CD.
Aetiology
Affected children become fractious and miserable
Coeliac disease (CD) is now regarded as an autoimmune type with anorexia and failure to gain weight. Stools are
of chronic inflammatory condition and may have its onset at characteristically of porridgy consistency, pale, bulky and
all ages. It is apparent that the harmful substance is in the foul smelling, but in some children this feature is not very
gliadin fraction of gluten in wheat, barley and rye flour. The marked. In others, however, the illness may start with
immune-mediated enteropathy is triggered by the ingestion vomiting and watery diarrhoea. The abdomen becomes
of gluten in genetically susceptible individuals. Gluten is distended as a result of poor musculature, altered peristaltic
a mixture of structurally similar proteins contained in the activity and the accumulation of intestinal secretions and gas.
Fig. 7.13A: Normal jejunal biopsy: long finger-shaped villi, short Fig. 7.13B: Total villous atrophy with loss of villi, elongated hyper-
crypts, scattered chorionic inflammatory cells in the lamina propria and plastic crypts, dense plasmacytic infiltrate in the lamina propria and
occasional lymphocytes in intraepithelial spaces (obj x 10) increased number of surface intra-epithelial lymphocytes (obj x 10)
138 Hutchison's Paediatrics
Diagnostic Tests
While the definitive diagnosis of CD must rest upon jejunal
biopsy, the procedure is unpleasant and requires admission to
hospital. A variety of screening tests have been developed.
The use of serological markers, i.e. serum antigliadin (AGA),
antiendomysial (IgAEMA) and antitissue transglutaminase
(IgAtTGA) antibodies of IgA isotype for case finding and
epidemiological studies is mandatory. However, IgA
deficiency must be excluded. Patients with IgA deficiency
will have a false negative result if IgA based serological tests
are used. However, IgGtTGA and/or IgGEMA serological
tests should be carried out in patients with confirmed IgA
deficiency. The testing for CD is accurate only if the child
continues to follow a gluten-containing diet during the
diagnostic process (serological tests, jejunal biopsy).
A barium meal and follow-through examination will
reveal an abnormal coarsening of the mucosal pattern of
the small bowel, jejunal dilatation and possibly delay in
A B the passage of barium to the colon. The bones may become
Figs 7.14A and B: (A) A 14-month-old girl with untreated coeliac dis-
osteoporotic and ossification delayed.
ease. Note abdominal distension and gross tissue wasting; (B) Lateral No investigation apart from small intestinal biopsy is
view of the same patient 100% diagnostic of children who have CD.
This contrasts with the childs wasted buttocks and thighs
Key Learning Point
and produces the so-called coeliac profile (Figs 7.14A and
B). A small number of children may be desperately ill with Diagnosis of coeliac disease
profuse diarrhoea leading to dehydration, acidosis and shock The only diagnostic test for CD at present is small intestinal
(coeliac crisis). In the worst cases malabsorption of protein biopsy while the child is on a gluten-containing diet The Gold
can lead to hypoproteinaemic oedema. Some children may Standard for Diagnosis. Serological tests do not diagnose
present with prolonged fatigue (tired all the time), recurrent CD, but indicate whether further testing is needed.
abdominal pain, cramping or distension.
Various other defects in absorption may become Treatment
clinically manifest. Iron deficiency anaemia is common.
There is usually diminished absorption of folic acid as Coeliac disease is a gluten-sensitive enteropathy and the
revealed by a reduced red cell folate concentration. If results of treatment with a gluten free diet are impressive.
there is ileal involvement, serum B12 may be decreased. This is first apparent as a striking improvement in personality
Although deficiency of vitamins A and D is probably soon to be followed by rapid growth, while the stools more
always present, rickets is quite rare (due to lack of slowly return to normal. Strict supervision is essential and
growth) and xerophthalmia is almost unknown. However, the childs height and weight should be recorded at regular
rickets may develop after starting treatment with a gluten intervals. A delayed diagnosis of CD or undiagnosed CD
free diet if supplements of vitamin D are omitted while can result in growth failure, delayed puberty and dental
active growth continues. Hypoprothrombinaemia is often problems.
present. The parents should be supplied with a comprehensive
There has been a change in the clinical presentation list of the many foodstuffs which contain gluten and are,
of the disease since a large fraction of affected patients therefore, forbidden; also a list of the gluten free foods
mainly adults remain undiagnosed due to atypical or vague which are freely permitted. Bread and biscuits made from
symptoms, or even the absence of symptoms. We should gluten free wheat starch are commercially available. It is also
be especially aware of the disease in certain risk groups, possible to home bake gluten-free bread, biscuits and cakes
i.e. first-degree relatives of patients with diagnosed disease, with recipes supplied by dieticians.
patients with autoimmune diseases such as type 1 insulin An adequate intake of vitamins and especially of Vitamin
dependent diabetes, autoimmune thyroid disease, dermatitis D is important. Iron deficiency anaemia may be corrected
herpetiformis and child with Down syndrome. with oral preparations of iron supplements. When the red
Gastroenterology and Hepatology 139
cell or whole blood folate value is low, folic acid should be response to chronic infection in turn causes progressive and
prescribed in a dose of 5 mg daily. permanent airway damage, such that bronchiectasis and
respiratory failure are the common findings in end-stage CF
Key Learning Point
lung disease. The liver shows a focal type of biliary cirrhosis,
Treatment of coeliac disease most marked under the capsule, which may progress to
Effective treatment for CD is available through lifelong produce portal hypertension.
adherence to a strict gluten-free diet, i.e. exclusion of all foods
containing wheat, rye or barley. Clinical Features
While most CF patients present disease symptoms at birth or
As long as the child remains on a gluten free diet growth in early infancy, some may not be diagnosed until adulthood.
and development will be entirely satisfactory, and the The symptoms tend to occur in a more or less ordered
mortality rate for CD is nowadays negligible. It is, however, fashion and the diagnosis is not often unduly difficult. In
recognised that adults who have been successfully treated about 10% the illness presents in the neonatal period in the
for CD in childhood and who have gone back to an ordinary form of meconium ileus in which inspissated meconium
diet, may later relapse. It is therefore desirable to confirm causes intestinal obstruction. The most common presentation,
the persistence of true gluten intolerance in these so-called however, is in the form of an intractable respiratory infection
coeliac children before recommending a life long gluten dating from the early weeks or months of life. Indeed, cystic
free diet. There is, in addition, the risk that the poorly fibrosis of the pancreas should always be suspected when a
treated adult coeliac may in time develop a lymphoma or GI respiratory infection in infancy fails to respond promptly to
carcinoma. adequate antibiotic therapy. In the early stages of the disease
The therapeutic trial of a gluten free diet without a prior radiographs of the chest may show only increased translucency
biopsy is a dangerous practice and should be abandoned. of the lung fields; later heavy interstitial markings appear;
then multiple soft shadows representing small lung abscesses.
CYSTIC FIBROSIS In other cases there may be lobar consolidation, empyema
or pyopneumothorax. In children who survive the early
Aetiology
months of life, the respiratory picture may become that of
Cystic fibrosis (CF) is an autosomal recessive hereditary multi- bronchiectasis, increasing emphysema, and clubbing of the
organ disease caused by mutations in the CF transmembrane fingers. Sputum culture in such cases will most often show
conductance regulator gene. The gene, which codes for this the predominant organisms to be Staphylococcus aureus and
protein is located on chromosome 7 and the most common so Pseudomonas aeruginosa and other gram-negative bacteria
far described is at the DF 508 locus and accounts for about (e.g. Burkholderia cepacia complex, Stenotrophomonas
74% of cases in Caucasians. Although the incidence varies maltophilia, Achromobacter xylosoxidans) often dominate
considerably between ethnic groups and populations, CF the clinical picture. For respiratory manifestations of CF,
seems to be present in every population studied. CF is much discussed in Chapter 6 (Respiratory Disorders).
less common in native African and native Asian populations. In a minority of cases the respiratory infection is less
prominent than the presence of semi-formed, greasy, bulky
Pathology and excessively foul smelling stools. These features coincide
Although the gene defect is present in all nucleated body cells with the introduction of mixed feeding. After the first year
it is only in those cells where the gene requires to be activated of life the history of abnormal and frequent stools occurring
for normal cell function that abnormalities are recognised. in association with abdominal distension and generalised
It is not surprising that the disease has variable clinical tissue wasting may simulate CD. The differential diagnosis
manifestations given the range of gene defects. The pancreas can, however, almost always be made on clinical grounds
is abnormal in over 90% of the cases. A constant change alone. In cystic fibrosis a careful history will elicit that signs
is fibrosis with atrophy of the exocrine parenchyma. Cystic first appeared in the early weeks of life, whereas CD rarely
dilatation of acini and ducts is common but not invariable. presents before the age of 6 months. The excellent, often
Islet tissue, however, is rarely involved until later childhood voracious appetite in cystic fibrosis contrasts sharply with the
or adolescence. Mucous glands throughout the body are unhappy anorexia of the coeliac child. Chronic respiratory
grossly distended and they secrete abnormal viscid mucus. infection of some degree, often severe, is an invariable
Stagnation of mucus in the smaller bronchioles usually accompaniment of cystic fibrosis but it is not a feature of
leads to infection, which in turn stimulates further mucus CD. Furthermore, the diagnosis of cystic fibrosis may be
secretion. The non-resolving neutrophilic inflammatory suggested by a history that previous siblings have the disease.
140 Hutchison's Paediatrics
If the affected infant survives the first year, childhood equivocal. Additional diagnostic tests will be necessary to
seems often to bring a period of improvement in the chest substantiate the diagnosis: CFTR mutation analysis and, at
condition. All too frequently, however, the approach to times, CFTR bioassays.
puberty is associated with cor pulmonale. Less commonly, In neonates, there is a reliable method of screening which
in about 10% during the second decade, biliary cirrhosis is based on the serum concentration of immunoreactive
and portal hypertension develop and may lead to massive trypsin (IRT). Serum IRT levels are abnormally high (> 80
GI haemorrhage. In recent years as an increasing proportion ng/ml) during the first few months of life, although in older
of sufferers from cystic fibrosis survive insulin dependent children they fall to subnormal values. Prenatal diagnosis by
diabetes mellitus has been found in some as they approach chorionic villus biopsy obtained at 912 weeks postconception
puberty. A further important manifestation, which seems will allow termination of affected foetuses. As there is still
to present in a majority of male survivors into adulthood no curative treatment for CF the introduction of screening
is aspermia and sterility. This has been shown to be due has to be considered regionally, in close cooperation with CF
to absence of the vas deferens. Women have only slightly centres.
reduced fertility associated with abnormal tubal ciliary
movement and cervical mucus. Key Learning Point
A sweat chloride concentration of greater than 60 mmol/L
Key Learning Point
confirms the clinically suspected diagnosis of CF.
The vast majority of men with CF (98%) are infertile due to
abnormalities in the development of structure derived from A majority of patients with cystic fibrosis have pancreatic
the Wolffian duct.
insufficiency which if inadequately treated could result in
fat, vitamin and protein malnutrition. The most important
Some children with cystic fibrosis can develop distal factors in the treatment are control of lung infection and
small bowel obstruction. This disorder is due to viscid maintenance of adequate nutrition; indeed upon the success
mucofaeculent material obstructing the bowel causing of these efforts depend the prognosis. Persistent bacterial
recurring episodes of abdominal pain, constipation and infection is a major problem for children with cystic fibrosis;
acute or sub-acute intestinal obstruction. The cardinal sign the four bacterial pathogens involved being S. aureus, P.
is a soft, mobile, non-tender mass palpable in the right iliac aeruginosa, Haemophilus influenzae and B. cepacia.
fossa. Mild cases can be treated by increasing the intake of The intensive long-term antibiotic treatments, developed
pancreatic enzyme. If the condition is not improved oral at many centres, have resulted in problems with resistant
N-acetylcysteine 10 ml four times a day or one or two doses strains. Different treatment strategies have been developed,
of oral Gastrografin 50100 ml taken with 200400 ml of most focusing on preventing colonisation with gram-negatives,
water may relieve the patient discomfort and obstruction. mainly P. aeruginosa. The strategies contain generalised
Toddlers with cystic fibrosis may sometimes present with pulmonary mucus-dissolving agents, physical therapy and
rectal prolapse. Also the incidence of nasal polyps in patients antibiotics.
with cystic fibrosis is about 70%. Antibiotic treatment with intravenous antimicrobial
drugs at signs of exacerbation of the pulmonary symptoms
Diagnostic Tests has been the most widely used treatment modality. In the
The sweat test is still sufficient to confirm the diagnosis in struggle to keep the infectious load as low as possible more
typical cases but gene screening for known mutations is now or less continuous inhalation therapy has been more common
becoming routine in many centres. The sweat test can be in recent years. The cost of intravenous therapy can also
carried out from the third week of life on, provided the infant be kept relatively low by teaching parents and patients to
weighs more than 3 kg, is normally hydrated and without perform home intravenous antibiotic therapy, which also
significant illness. There are various methods of obtaining gives the family more freedom and acceptance of treatment.
sweat for analysis but the most accurate and widely used Patients should be considered for lung transplantation
technique is stimulation of local sweating by pilocarpine when there lung function is impaired to a FEV1.0 of less
iontophoresis. One should try to achieve the collection of than 30% of the predicted values.
at least 100 mg of sweat. To minimise diagnostic errors, All children with cystic fibrosis should receive pertussis,
two reliable sweat tests confirmed in a laboratory used to measles, H. influenzae and influenza vaccinations.
performing the test should be obtained. Diagnostic levels The services of a surgeon may be required at several
of sodium and chloride are 60 mmol/kg. In patients with stages of the disease, e.g. for meconium ileus in the neonatal
atypical disease manifestations, the sweat test is often period, for distal small bowel obstruction, for lobectomy
Gastroenterology and Hepatology 141
in bronchiectasis or for portacaval anastomosis if portal inhibition is sent to the anal canal. This is mediated via the
hypertension is severe. myenteric plexus of nerves in the submucosa and the plexus
There has been amazing success in the treatment of CF, of nerves between the outer longitudinal and inner circular
a condition that was once frequently fatal in the first year of smooth muscle layers. The process produces sensation
life. Identification of CFTR (CF transmembrane conductance since the upper part of the anal canal has sensitive sensory
gene) has been a key step in understanding pathophysiology receptors as well as stretch receptors. The motor element of
at a molecular level and establishing the degree to which the external sphincter and the puborectalis muscle make up
variation in CFTR function influences the outcome of CF. the striated sphincter together with the smooth muscle of the
Supplements of pancreatin are given by mouth to internal sphincter. The striated sphincter is able to contract
compensate for reduced or absent exocrine secretion in strongly to prevent the passage of a stool at an inconvenient
CF. The dose of pancreatin is adjusted according to size, time. This, however, can only function for 30 seconds, i.e.
number, and consistency of stools, and the nutritional status long enough to contain a rectal contraction wave till it passes.
of the child. High strength pancreatin preparations have been The internal sphincter can maintain persistent tonic activity so
associated with the development of large bowel strictures in preventing leakage of stool between periods of rectal activity
children aged between 2 and 13 years. Therefore the total by maintaining closure of a resting anal canal. Clinical
dose of pancreatic enzyme supplements used in children experience suggests that the external sphincters are of much
with CF should not usually exceed 10,000 units of lipase less importance than the puborectalis sling and the internal
per kg per day. Pancreatin is inactivated by gastric acid sphincter. Defaecation occurs by inhibiting the activity of
juice, therefore pancreatin preparations are best taken with the puborectalis sling and the sphincter mechanism of the
food. In CF children with persistent malabsorption of fat anus, thus allowing faeces to pass from the rectum into the
despite optimal use of enzyme replacement, an H2-receptor anal canal. This is augmented by voluntarily increasing intra-
antagonist or a proton pump inhibitor may improve fat abdominal pressure using the abdominal wall musculature as
digestion and absorption. Pancreatin can irritate the perioral well as the diaphragm as accessory muscles for defaecation.
skin, buccal mucosa and excessive doses can cause perianal There are two main clinical states, the acute and the chronic
irritation. state, which must be differentiated. Some children with
physical disabilities, such as cerebral palsy are more prone
Key Learning Point to idiopathic constipation as a result of impaired mobility.
Most patients with CF die from end-stage pulmonary
Children with Down syndrome and autism are also more
disease; therefore, emphasis is on prevention and
prone to the condition.
treatment of pulmonary infections. Most patients would
Key Learning Point
benefit from improved nutrition, including refined pancreatic
supplementation therapy and essential fatty acid status. Hirschsprungs disease, CF, anorectal anomalies and
metabolic conditions such as hypothyroidism are rare organic
causes of childhood constipation.
IDIOPATHIC CHILDHOOD Constipation
Terminology is a problem, which causes confusion in Acute Constipation
communication between doctors and patients. It is important
that the doctor be sure of the patient's understanding of the Acute constipation usually occurs in a child after a febrile
terms used. Constipation may be defined as a difficulty or illness with a reduced fluid intake. This situation arises when
delay in defaecation that causes distress to the child and the convalescing after an illness or in the immediate postoperative
parents. The infrequent passage of stools with no distress period. There is a danger that this acute state of constipation
does not fall into this category. Encopresis or faecal soiling is may progress to a chronic state if it is not identified early
the frequent passage of faecal matter at socially unacceptable enough. Treatment with a laxative, suppositories or an enema
times. This has been discussed in Chapter 31 (Disorders of usually corrects the problem initially but the child must be
Emotion and Behaviour). Psychogenic causes are the most encouraged to return to a good diet and adequate fluid intake.
frequent. Faecal continence is the ability to retain faeces until
Chronic Constipation
delivery is convenient. Ingestion of fluid or food stimulates
the gastrocolic reflex and results in two or three mass colonic Chronic constipation is distressing to the child and the
propulsive activities per day. This process delivers faecal parents. An early diagnosis is essential to prevent a prolonged
material to a normally empty rectum. On distension of the and persistent problem. In chronic constipation the rectum
rectum, stretch receptors start a rectal contraction and a reflex is overstretched and ballooned. The sensory receptors are
142 Hutchison's Paediatrics
inactive and the bowel is flaccid and unable to contract Digital rectal examination must be carefully explained
effectively. A greater amount of water is absorbed from the to the parents and the child before proceeding, explaining
faecal stream. The stool becomes harder, more solid and the importance of deciding whether constipation is a
more difficult and painful to pass. The faecal mass increases problem especially in the presence of diarrhoea, which
in size and spurious diarrhoea can also occur from stercoral may be spurious in nature. It is helpful to have a nurse in
ulceration of the distended rectal mucosa. attendance to position the child in the left lateral position
History is important as failure to pass meconium within with knees bent in the foetal position. It is useful to carry on
24 hours of birth in the term infant born normally, makes conversation during this investigation to relax an otherwise
it likely that there may be some underlying problem. tense atmosphere and also explaining to the parent and the
Infants, for whom childbirth has been abnormal, take child what is being done. While the child is in this position, it
longer to establish a normal defaecation pattern. The delay is important to examine the spine and the sacrum for any sign
in establishing normal stooling may be a sign of other of spina bifida occulta. The position of the anus as well as its
disorders, not only Hirschsprungs disease or anal stenosis, size should be noted to exclude the possibility of an anterior
but systemic disorders such as hypothyroidism. Psychogenic ectopic anus or an anal stenosis. The skin around the anus
causes are the commonest origin of constipation in childhood should look normal. Erythema may indicate the presence of
often due to inappropriate toilet training and this aspect has candida or streptococcal infection or may be due to topical
also been discussed in Chapter 31 (Disorders of Emotion and applications by the parents. The presence of puckering of
Behaviour). the anus as well as the presence of a skin tag may indicate
In older infants and children the distress caused by an underlying anal fissure, which could be the result of the
constipation may be related to pain. There may be abdominal vicious cycle of retention of stool, chronic constipation and
discomfort, usually a dull ache, which may or may not be painful defaecation. The presence of soiling should be noted
related to defaecation. Occasionally the pain may be localised and the consistency and volume of stool, if it is hard or soft
to the right iliac fossa due to a distended caecum filled with or liquid in form, as well as whether there is any blood
stool. The pain may be in the anal region, particularly when present.
an anal fissure has occurred and bleeding may result from the
mucosal tear. Key Learning Points
There are occasions when there is no complaint of May not be idiopathic constipationdiagnostic clues are:
constipation but the parents may notice a distended abdomen, If constipation has occurred from birth or first 2 weeks of life
and may even at times feel a mass arising out of the pelvis. If there is history of failure to pass meconium/delay of greater
A full dietary history must be obtained. This should than 48 hours after birth
include a detailed account of a typical days breakfast, lunch, If there is undiagnosed weakness in legs, locomotor delay
supper and any in-between snacks, noting the amount of fluid If there is abdominal distension with vomiting
taken, any dietary fads and the amount of fruit and vegetables If lower limb reflexes are abnormal
and cereals ingested. If spine, lumbosacral region/gluteal examination shows sacral
An accurate account of drugs given and other remedies tried agenesis, naevi, hairy patch, asymmetry or flattening of
by the parents before presenting at the clinic is documented. gluteal muscles.
Examination
A full examination of the child is important noting the
Investigations
presence of any dysmorphic features, height and weight A plain abdominal radiograph is only indicated in the ongoing
as well as any signs of failure to thrive. Inspection of the management of intractable idiopathic constipation. A plain
abdomen noting any abdominal distension or the presence of X-ray of the abdomen in a child with a distended abdomen
localised swelling. The abdomen is then palpated in routine and constipation may indicate the degree of constipation and
fashion, feeling for any abdominal mass. A faecal mass may also detect underlying bony abnormalities such as spina
can usually be indented through the abdomen, although at bifida occulta or sacral abnormalities. Barium enema (Fig.
times the impacted mass may be so hard as to make it quite 7.15) may be carried out in a few children with chronic
impossible to indent, and may mislead one into thinking constipation where there is a suspicion of Hirschsprungs
it is a malignant mass. A loaded, impacted colon with a disease but in most children radiological investigations are
megarectum can in turn cause retention of urine resulting in not required if an adequate history is taken. These children
a full bladder, which may or may not distress the child if this must not be prepared by bowel washout prior to the barium
is a chronic situation. enema because this will obscure the X-ray appearance.
Gastroenterology and Hepatology 143
Little is known about the mechanisms by which the loss. Diagnosis is not complete without the demonstration of
plasma proteins reach the lumen of the gut. In inflammatory excess intestinal protein loss. It is necessary to determine the
and ulcerative conditions local exudation of protein seems nature of the causative disease. Treatment is the treatment of
the obvious explanation. In other conditions such as that disease.
lymphangiectasia, retroperitoneal fibrosis and congestive
cardiac failure, the loss may be accounted for by disturbance WILSONS DISEASE (HEPATOLENTICULAR
of lymphatic drainage. For the most part the mechanism DEGENERATION)
remains obscure. The classification in Table 7.3 includes
those found in children. Caeruloplasmin is a copper-containing a-2 globulin, which
Gastrointestinal protein loss is non-selective. Serum functions as a transport mechanism for copper in the plasma.
proteins are lost in bulk irrespective of molecular size. Deficiency of caeruloplasmin is associated with copper
Although all serum proteins may be reduced the abnormality deposition in many tissues resulting in Wilsons disease.
is most obvious in the reduction in concentration of albumin,
Clinical Features
IgG, IgA, and IgM. Abnormal intestinal protein loss may
occur without any clinical manifestations. Wilsons disease may present any time from early
However, at serum levels below 4 g per 100 ml there childhood to the fifth decade. In early childhood,
is an increasing risk of peripheral oedema, which may then hepatosplenomegaly, jaundice and acute hepatitis or nodular
become a major or even the presenting complaint. cirrhosis of the liver are the most common findings.
Protein-losing enteropathy (PLE) may be suspected in any This disease should always be considered in such cases.
case of unexplained hypoproteinaemia or oedema especially A brown or green ring around the corneal limbusthe
in the presence of GI symptoms. Suspicion is strengthened Kayser-Fleischer ringis caused by copper deposited in
by the demonstration of particularly low levels of albumin Descemets membrane. It is only found in this disease.
and immunoglobulins. The diagnosis is proved by the use The ring is often not present under the age of seven.
of such tests as the use of 51Cr-labelled serum proteins. Urine, plasma and tissue concentrations of copper are high
The measurement of faecal a1 antitrypsin can be used to and serum caeruplasmin (or copper oxidase activity) is usually
document protein loss and to potentially localise the site of low, although rare families with normal caeruloplasmin
levels have been reported. Plasma caeruloplasmin levels are
Table 7.3: Diseases associated with protein-losing enteropathy very low in the normal newborn, rising to normal by about 2
years of age.
Invasive bacterial infection (e.g. Salmonella, Shigella)
Crohn disease Diagnosis
Ulcerative colitis
Tissue copper is high but serum copper and caeruloplasmin
Intestinal tuberculosis are low, although rare forms are known in which the
Sarcoidosis caeruloplasmin level may be normal although its functional
Intestinal lymphangiectasia activity is impaired. In these cases, liver biopsy or radioactive
Retroperitoneal fibrosis copper uptake may be required to make the diagnosis. Some
Neoplasia affecting mesenteric lymphatics heterozygotes have reduced caeruloplasmin levels; others
can be distinguished by measuring caeruloplasmin uptake of
Thoracic duct obstruction radioactive copper. Slit lamp examination may be needed to
Congestive cardiac failure see the Kayser-Fleischer (K-F) rings.
Menetrier disease
Cystic fibrosis Key Learning Point
Milk and Soy-induced enteropathy The diagnosis of Wilsons disease may be made readily when
Henoch-Schnlein purpura the classic triad of hepatic disease, neurologic involvement
and K-F rings are present.
Giardiasis
Kwashiorkor
Veno-occlusive disease Treatment
Necrotising enterocolitis
It is important to diagnose the disease early since treatment
Tropical sprue can prevent the onset of symptoms, and can result in striking
Graft-versus host disease clinical improvement. Oral D-penicillamine is the drug of
Gastroenterology and Hepatology 145
choice. Children who are hypersensitive to penicillin may sanitation HAV infection is endemic and most children are
react rarely to penicillamine. The drug should be continued infected in the first year of life.
for life. Trientine is used for the treatment of Wilsons
disease only, in patients intolerant of D-penicillamine. Clinical Features
Zinc prevents the absorption of copper in Wilsons Hepatitis A virus infection is usually an acute self-limiting
disease. Symptomatic patients should be treated initially illness. The mean incubation period is 30 days. In infants and
with a chelating agent because zinc has a slow onset of young children, the infection could be entirely asymptomatic.
action. When transferring from chelating treatment to zinc Jaundice is rare in this age group. In older children, there
maintenance therapy, chelating treatment should be co- may be a prodromal period of several days in which fever,
administered for 23 weeks until zinc produces its maximal headache and malaise predominate, followed by the onset of
effect. jaundice, abdominal pain, nausea, vomiting and anorexia.
Liver transplantation has also been reported to reverse all
Pruritus may accompany the jaundice.
the neurologic and biochemical abnormalities.
Clinical examination may reveal a mildly enlarged tender
liver and occasionally splenomegaly is noted.
JAUNDICE Serum aminotransferase values usually are often 20 to
Jaundice occurs either when there is excess haemolysis 100 times the upper limit of normal and they decrease rapidly
increasing the load of bilirubin, when the diseased liver is not within the first 23 weeks.
able to cope with the normal load or when there is obstruction
to excretion of bilirubin. Jaundice can be classified into Diagnosis
haemolytic (prehepatic), hepatocellular (hepatic) and The diagnosis of HAV infection is made by detection of the
obstructive (posthepatic) varieties. In this chapter, the immunoglobulin M antibody to HAV (IgM and anti-HAV).
authors have discussed only virus hepatitis, chronic active
hepatitis and cirrhosis of the liver. Neonatal jaundice has Prevention
been discussed in chapter 3 (Neonatal Paediatrics) and
Hepatitis A vaccine should be considered for children with
obstructive jaundice in chapters 11 (General Paediatric
Surgery) and 13 (Paediatric Oncology). Carotenoderma chronic liver disease including chronic hepatitis B or chronic
(Carotenaemia) is characterised by yellow skin pigmentation hepatitis C; prevention of secondary cases in close contacts
(carroty) usually as a result of excessive dietary intake of of confirmed cases of hepatitis A, within 7 days of onset of
foods rich in -carotene. The pigmentation is marked on the disease in the primary case. Protection against hepatitis A
nasolabial folds, palms and soles. Constitutional symptoms is recommended for travellers to high-risk areas. Hepatitis
seldom appear in carotenoderma. The sclerae are not icteric A vaccine is preferred as compared to immunoglobulin
and this helps to distinguish carotenoderma from jaundice. and it is likely to be effective even if given shortly before
Also serum bilirubin is within the normal range but plasma departure. Intramuscular normal immunoglobulin is no
carotene level is raised. Occasionally it is associated with longer recommended for routine prophylaxis in travellers but
hypothyroidism, diabetes mellitus, or nephrosis. it may be indicated for immunocompromised patients if their
antibody response to vaccine is unlikely to be adequate. In
Key Learning Point
unimmunised children, transmission of hepatitis A is reduced
by good hygiene.
Jaundice versus carotenoderma (carotenaemia)
There is no scleral icterus in carotenoderma, and this helps Hepatitis B
clinically to distinguish it from jaundice.
Hepatitis B virus (HBV) is relatively uncommon in
Caucasians but has a high prevalence in Southeast Asia and
VIRAL INFECTIONS OF THE LIVER parts of Africa where highly infective carriage of HBV is
common. The incubation period is 90120 days. Hepatitis B
Hepatitis A virus is found in high concentration in the blood of infected
Hepatitis A virus (HAV) is present in the blood and stool of individuals and in moderate concentrations in semen, vaginal
a patient for 23 weeks before clinical symptoms occur and fluid and saliva. Risk factors for acquisition of HBV infection
it persists in stool for up to 2 weeks after disease onset. The include parenteral exposure to blood or blood products. Risk
primary mode of transmission is faecal-oral route. Common factors in children include perinatal exposure (vertical) being
source outbreaks occur with contamination of water or food. born to an HbsAg seropositive mother. Horizontal spread is
In developing countries with inadequate hygiene and poor by living in a household with a chronic HBV carrier.
146 Hutchison's Paediatrics
The hepatic injury that occurs with HBV infection is Close family contacts of a case or carrier, children
mediated by the host immune response. Most instances of travelling to areas of high prevalence
HBV infection are acute and self-limited. In some individuals Babies whose mothers have had hepatitis B during
HBV is not cleared by the host immunologic response, and pregnancy or are positive for hepatitis B surface antigen
chronic infection results. (regardless of e-antigen markers)
Children with chronic liver disease, chronic renal failure
Clinical Features including those on haemodialysis
After an incubation period of 30180 days, patients with HBV Parenteral drug abusers and their household contacts,
infection may develop a prodrome that consists of malaise, children with haemophilia, those receiving regular blood
fatigue, nausea, low-grade fever, or even a serumsickness transfusions or blood products.
like illness. Papular acrodermatitis of childhood may be the
Hepatitis C
major or only manifestation of HBV in infants and young
children. Patients who manifest these pro-dromal symptoms Hepatitis C virus (HCV) was discovered in sera from patients
are already seropositive for HbsAg. with post-transfusion hepatitis, and is now the predominant
Within a week or two of the prodrome, clinical hepatitis cause of transfusion associated non-A, non-B hepatitis in the
is seen with jaundice, pruritus, nausea and vomiting. Clinical world. However, since the institution of screening donors for
examination reveals mild hepatomegaly and liver tenderness antibody to HCV (anti-HCV) and thus eliminating positive
and mild splenomegaly may also be noted. Serum bilirubin blood/blood products, the risk of HCV from transfusion
and aminotransferase levels decrease over several weeks has diminished. On the other hand the proportion of cases
to normal. However, in those children who will develop associated with intravenous drug abuse has increased.
fulminant hepatitis, the typical features of coagulopathy and However, exposure to blood products and perinatal exposure
encephalopathy will appear. In patients who develop chronic have been the most consistent risk factors for HCV acquisition
HBV infection, jaundice clears, but alanine transaminase in children. The incubation period for post-transfusion HCV
(ALT) and aspartate transaminase (AST) may or may not infection ranges from 226 weeks.
return to normal.
Chronic HBV infection is often completely asymptomatic Clinical Features
and may not be diagnosed if the patient has not had an Many acute HCV infections are clinically asymptomatic but
acute icteric illness. Chronic hepatitis may manifest as a those who become icteric show a modest rise in aminotransferase
complication of cirrhosis or portal hypertension. Chronic levels. Some patients have symptoms of acute hepatitis, such
HBV infection is highly associated with the risk of developing as anorexia, malaise, fatigue and abdominal pain. In most
hepatocellular carcinoma. instances, chronic HCV infection is asymptomatic.
Diagnosis Treatment
The diagnosis of acute HBV infection is made by detection At present there are no widely accepted recommendations for
of HbsAg and IgM anti-HBc; although HbeAg confirms treatment of acute HCV infection in children. Interferon has
active replication, its presence is not essential to confirm the been used with some success in chronic hepatitis C infection.
diagnosis. Chronic HBV infection is defined by the presence
of HbsAg for more than 6 months; typically it persists for Hepatitis D (Delta Hepatitis)
many years. In chronic HBV infection, HbeAg persists, Delta hepatitis is caused by the hepatitis D virus (HDV).
often for many years, indicating ongoing viral infection. It occurs only in conjunction with hepatitis B infection. In
general, HDV infection does not have specific features to
Treatment distinguish it from ordinary HBV infection. Testing for HDV
Treatment for acute hepatitis B is mainly supportive and infection is recommended in any child with chronic HBV
most patients recover fully. Chronic HBV infection is a and unusually severe liver disease. Several antiviral drugs
rare indication for liver transplantation in the paediatric age have been studied in Delta hepatitis, but the only treatment
group. that has had a beneficial effect is 1FN-a. Passive or active
immunisation against HDV infection is not available.
Prevention
Hepatitis E
Hepatitis B vaccine is used in individuals at high risk of
contracting hepatitis B. A combined hepatitis A and hepatitis Hepatitis E virus (HEV) infection is also called enterically
B vaccine is available. They include: transmitted non-A, non-B hepatitis. The symptoms and signs
Gastroenterology and Hepatology 147
are similar to those of hepatitis A. At present, the diagnosis disappeared from many parts of India. Recently a copper-
depends on the detection of anti-HEV IgM. Prevention is by binding factor has been identified in ICC, liver cytosol.
improving standards of hygiene. No therapy or prophylaxis This factor may play a role in hepatic intracellular copper
currently exists. accumulation. Penicillamine given before the terminal stages
has reportedly reduced mortality from 92% to 63%.
Hepatitis G In Jamaica a form of cirrhosis called veno-occlusive
The clinical significance of hepatitis G virus (HGV) remains disease of the liver, in which there is occlusion of the small
uncertain. This virus has not been implicated in acute non-A, hepatic veins, is due to the toxic effects of an alkaloid in bush
non-E hepatitis or fulminant hepatic failure in children. tea compared from plants such as Senecio and Crotalaria.
Hepatitis viruses A, B, C, D and E are the agents of most Chronic active hepatitis is an autoimmune disorder
viral hepatitis. Other viruses that can cause hepatitis as part characterised by hepatic necrosis, fibrosis, plasma cell
of a generalised illness (CMV, herpes virus, EB virus, infiltration and disorganisation of the lobular architecture. In
human parvovirus B 19, rubella, coxsackie B, and yellow the young adult, often female, associated disorders include
fever hepatitis and dengue haemorrhagic fever) will not be thyroiditis, fibrosing alveolitis and glomerulonephritis. Some
discussed here. cases are related to chronic virus B hepatitis (positive HBsAg).
In chronic active hepatitis smooth muscle antibodies are
found in the serum in two-thirds of cases, antinuclear factor
CIRRHOSIS OF THE LIVER
in about 50%, and the gamma globulin level is markedly
Aetiology elevated.
Hepatic cirrhosis is uncommon in children in the United Clinical Features
Kingdom and the histological differentiation into portal
and biliary types tend to be less well defined than in The child usually presents with abdominal swelling due to
adults. A pathological picture similar to that of Lannec enlargement of the liver, which has a firm edge, sometimes
portal cirrhosis may follow neonatal hepatitis, blood group smooth, often nodular. Anorexia, lack of energy and slowing
incompatibility, the de Toni-Fanconi syndrome and it may of growth are common complaints. Splenomegaly develops
be the form of presentation of Wilsons hepatolenticular if there is portal hypertension. In most cases jaundice makes
cirrhosis. Infective hepatitis-B may also lead to hepatic its appearance sooner rather than later. Spontaneous bleeding
cirrhosis. Other rare causes of cirrhosis of the liver include is usually due to hypoprothrombinaemia. Orthochromic
galactosaemia, Gauchers disease, Niemann-Pick disease and anaemia is common. When ascites develop the outlook is
xanthomatosis. Pure biliary cirrhosis is seen invariably in grave; it is usually associated with hypoproteinaemia and
congenital biliary atresia and a focal type is very common in portal hypertension. The latter may result in massive GI
cystic fibrosis of the pancreas. haemorrhage. In other cases death occurs from hepatic
Indian childhood cirrhosis (ICC) is a common and fatal encephalopathy with flapping tremor, mental confusion,
disease, which appears to be restricted to India. There is extensor plantar responses and coma. Spider naevi and
a positive family history in about 30% of cases. It is not liver palms are uncommon in children, but clubbing of
found in Indian expatriates in other parts of the world. It the fingers may develop. Hypersplenism may produce
usually presents between the ages of 9 months and 5 years leucopaenia and thrombocytopenia. Various derangements
and has characteristic histological features in liver biopsy of liver function can be demonstrated biochemically, e.g.
material. These have been called micro-micronodular raised direct bilirubin levels, hypoalbuminaemia, and raised
cirrhosis which includes necrosis and vacuolation of liver serum gamma globulin. In hepatic encephalopathy the blood
cells, aggressive fibrosis both intralobular and perilobular ammonia level is high. Diagnosis should be confirmed by
and a variable inflammatory infiltrate. The liver contains an liver biopsy.
exceedingly high copper content and the hepatocytes contain
multiple, coarse, dark brown orcein-staining granules, which Treatment of Hepatic Disorders
represent copper-associated protein. The pathogenic role of Specific treatment is available only for the few cases due to
chronic ingestion of copper was supported by the finding of a metabolic errors such as Wilsons disease or galactosaemia.
much greater use of copper utensils to heat and store milk by Life can be prolonged with a high protein diet, plus a liberal
families of affected than unaffected children. Since then, the intake of the B vitamins and oral vitamin K, 10 mg per day.
use of copper pots has reduced, and the disease has largely Ascites should be treated with frusemide and a low-sodium
148 Hutchison's Paediatrics
diet. Hypokalaemia may require supplements of potassium an important cause of acute pancreatitis in children. Acute
chloride. In resistant cases diuresis may be improved by pancreatitis has been reported in association with a variety
giving (along with frusemide) an aldosterone antagonist of connective tissue disorders. Abdominal pain and vomiting
such as spironolactone, 25 mg four times daily. Paracentesis are the most consistent signs. Abdominal tenderness is more
abdominis should be avoided whenever possible. When signs marked in the upper abdomen. There is a lack of a gold
of hepatic failure supervene protein should be completely standard diagnostic test for acute pancreatitis. However,
eliminated from the diet and the therapeutic regimen for considerable diagnostic importance has been placed on the
this emergency should be started. There is little basis for total serum levels of amylase or lipase, but the specificity and
the use of corticosteroids save in chronic active hepatitis sensitivity of these tests is unsatisfactory. Ultrasonography
where they do probably slow down the progress of the is now the most commonly used test in the preliminary
disease. An alternative but more dangerous therapy is evaluation of children with abdominal pain when pancreatitis
immunosuppression, e.g. with azathioprine. Fortunately, is suspected. Abdominal CT should be reserved where
children have a large reserve of hepatic metabolic capacity, ultrasound examination is technically unsatisfactory.
therefore modification of the choice and dosage of drugs is
usually not required, even in apparently severe liver disease. Treatment
However, use of hepatotoxic drugs is more likely to cause It consists of the treatment of pancreatic disease symptoms
toxicity in children with liver disease. It would be prudent to and complications. Most specific therapeutic interventions
avoid such drugs if possible. are of questionable or unproven benefit.
Obstructive Jaundice
JUVENILE TROPICAL PANCREATITIS
Obstructive jaundice has been discussed in details in Chapter
The syndrome of chronic pancreatitis with pancreatic
11 (General Paediatric Surgery).
calculi and diabetes has been reported from many countries
Cholecystitis such as Uganda, Nigeria, Sri Lanka, Malaysia, India, and
Bangladesh. The exact aetiology has not yet been established;
Cholecystitis is uncommon in childhood and rarely presents malnutrition is an important epidemiologic association.
as an acute emergency. Cholelithiasis is less common in The cardinal manifestations of juvenile tropical pancreatitis
infancy and childhood. It presents with recurrent upper are recurrent abdominal pain, followed by diabetes mellitus,
abdominal pain, nausea and vomiting. It is often associated and pancreatic calculi, and death in the prime of life. The
with congenital spherocytosis. The stones are usually bile management of this condition consists of the alleviation of
pigment stones and should be looked for whenever laparotomy abdominal pain, the treatment of diabetes, the prevention of
is carried out for removal of the spleen in this condition. complications and the correction of nutritional problems.
Most gallstones are clinically silent. Ultrasonography is
the most sensitive and specific method to detect gallstones.
Key Learning Point
Cholecystotomy has been preferred to cholecystectomy when
the gallbladder is not diseased. Juvenile tropical pancreatitis
Abdominal pain followed by diabetes in an emaciated
PANCREAS teenager and the radiologic demonstration of calculi in the
pancreatic duct are the hallmark of the disease.
Pancreatic disorders are uncommon in childhood except that
which is part of the generalised disease of cystic fibrosis
Pancreatitis presents as an acute abdominal emergency but LIVER TRANSPLANTATION
the signs and symptoms are less dramatic than in adults. Paediatric liver transplantation should be considered
Single, self-limited attacks, or recurrent attacks of acute at an early stage in babies and children dying of end-
pancreatitis are, by far the most frequent feature of this stage liver failure. With increasing experience, there are
disease in childhood. Chronic pancreatitis is quite rare in fewer contraindications to liver transplantation. Liver
children. Based largely upon clinical and epidemiological transplantation for children with life-threatening acute or
observations, a broad spectrum of underlying conditions chronic liver disease has proven to be durable with high
has been associated with acute pancreatitis. According to success rates. The majority of paediatric liver recipients can
one series, trauma, structural disease, systemic diseases, now expect to enjoy a good quality of life with normal growth
drugs and toxins are the major etiological factors. A and development. Life-long immunosuppressive therapy is
variety of systemic infectious agents have been implicated required. The circumstances in which liver transplantation
in the aetiology of acute pancreatitis. The mumps virus is should be considered are:
Gastroenterology and Hepatology 149
Chronic liver disease Although there is very little information on the long-term
Liver based metabolic disorders consequences of diarrhoeal diseases, recent data suggest
Acute liver failure that diarrhoeal illnesses especially, if prolonged, may
Unresectable hepatic tumours significantly impair psychomotor and cognitive development
Poor quality of life due to chronic liver disorders in young children.
mortality several folds. The risks are particularly higher Clostridium perfringens and B. cereus. Abdominal cramps
with micronutrient malnutrition. To illustrate, in children and watery diarrhoea after a 1648 hour incubation period can
with vitamin A deficiency, the risk of dying from diarrhoea, be associated with calicivirus, several enterotoxin-producing
measles, and malaria is increased by 2024%. Likewise, zinc bacteria, Cryptosporidium and Cyclospora. Several
deficiency increases the risk of mortality from diarrhoea, organisms including Salmonella, Shigella, Campylobacter
pneumonia and malaria by 1321%. jejuni, Yersinia enterocolitica, enteroinvasive E. coli and
It is recognised that most diarrhoeal disorders form a Vibrio parahaemolyticus are associated with diarrhoea that
continuum, with the majority of cases resolving within the may contain foecal leukocytes, abdominal cramps and fever,
first week of the illness. However, a smaller proportion although these organisms can cause watery diarrhoea without
of diarrhoeal illnesses may fail to resolve and persist for fever. Bloody diarrhoea and abdominal cramps after a 72
longer duration. Persistent diarrhoea has been defined as 120 hour incubation period are associated with infections due
episodes that began acutely but lasted for at least 14 days to Shigella and also Shiga toxinproducing E. coli such as E.
and identifies a subgroup of children with a substantially coli O157:H7.
increased diarrhoeal burden and between 36% and 54% of Although many of the manifestations of acute
all diarrhoea-related deaths. Such episodes may account for gastroenteritis in children are non-specific, some clinical
between 3% and 20% of all diarrhoeal episodes in children features may help identify major categories of diarrhoea and
under 5 years of age and up to half of all diarrhoea-related could facilitate rapid triage for specific therapy (Table 7.5).
deaths. However, it must be underscored that there is considerable
overlap in the symptomatology and if facilities and resources
Clinical Manifestation of Diarrhoea permit, the syndromic diagnosis must be verified by
Most of the clinical manifestations and clinical syndromes of appropriate laboratory investigations. Table 7.6 indicates
diarrhoea are related to the infecting pathogen and the dose/ some of the features that help characterise diarrhoea severity
inoculum. A number of additional manifestations depend and associated dehydration.
upon the development of complications (such as dehydration
and electrolyte imbalance) and the nature of the infecting Complications
pathogen. Usually the ingestion of pre-formed toxins (such Most of the complications associated with gastroenteritis
as those of S. aureus) is associated with the rapid onset of are related to the rapidity of diagnosis and of institution
nausea and vomiting within 6 hours with possible fever, of appropriate therapy. Thus unless early and appropriate
abdominal cramps, and diarrhoea within 872 hours. rehydration is provided, most children with acute diarrhoea
Watery diarrhoea and abdominal cramps after an 816 hour would develop dehydration with associated complications. In
incubation period are associated with enterotoxin-producing young children such episodes can be life-threatening. In other
Gastroenterology and Hepatology 151
instances, inappropriate therapy can lead to prolongation of and tenesmus are indicative of involvement of the large
the diarrhoeal episodes with consequent malnutrition and intestine. Features such as nausea and vomiting, absent or
complications such as secondary infections and micronutrient low grade fever with mild to moderate periumbilical pain
deficiencies such as those with iron and zinc. and watery diarrhoea are indicative of upper intestinal
tract involvement.
Diagnosis
Stool Examination
The diagnosis of gastroenteritis is largely based on clinical
recognition of the disorder, an evaluation of its severity by Microscopic examination of the stool and cultures can
rapid assessment and confirmation by appropriate laboratory yield important information on the aetiology of diarrhoea.
investigations. Stool specimens should be examined for mucus, blood, and
leukocytes. Foecal leukocytes are indicative of bacterial
Clinical Evaluation of Diarrhoea invasion of colonic mucosa, although some patients with
shigellosis may have minimal leukocytes at an early stage of
The most common manifestation of GI tract infection in infection, as do patients infected with Shiga toxinproducing
children is with diarrhoea, abdominal cramps, and vomiting. E. coli and E. histolytica. In endemic areas stool microscopy
Systemic manifestations are varied and associated with a must include examination for parasites causing diarrhoea
variety of causes. The following system of evaluation in such as G. lamblia and E. histolytica.
a child with acute diarrhoea may allow a reasonably rapid Stool cultures should be obtained as early in the course
assessment of the nature and severity of the disorder. of disease as possible from children with bloody diarrhoea,
Assess the degree of dehydration and acidosis and in whom stool microscopy indicates foecal leukocytes, in
provide rapid resuscitation and rehydration with oral or outbreaks, with suspected haemolytic ureamic syndrome
intravenous fluids as required. (HUS), and in immunosuppressed children with diarrhoea.
Obtain appropriate contact or exposure history to Stool specimens for culture need to be transported and plated
determine cause. This can include information on quickly and if the latter is not quickly available, may need
exposure to contacts with similar symptoms, and to be transported in special media. The yield and diagnosis
intake of contaminated foods or water, childcare centre of bacterial diarrhoea can be significantly improved by using
attendance, recent travel to a diarrhoea endemic area, use molecular diagnostic procedures such as PCR techniques and
of antimicrobial agents. probes.
Clinically determine the aetiology of diarrhoea for
institution of prompt antibiotic therapy. Although nausea Treatment
and vomiting are non-specific symptoms, they are A clinical evaluation plan and management strategy for
indicative of infection in the upper intestine. Fever is children with moderate to severe diarrhoea as per the WHO/
suggestive of an inflammatory process and also occurs UNICEF IMCI strategy is outlined in Figures 7.16 and 7.17.
as a result of dehydration. Fever is common in patients The broad principles of management of acute diarrhoea in
with inflammatory diarrhoea, severe abdominal pain children include the following as given below.
152
Fig. 7.16: IMCI protocol for the recognition and management of diarrhoea
Hutchison's Paediatrics
Gastroenterology and Hepatology 153
Oral Rehydration Therapy rehydration but oral rehydration is the preferred mode of
rehydration and replacement of on-going losses. While in
Children, especially infants, are more susceptible than general the standard WHO oral rehydration solution (ORS)
adults to dehydration due to the greater basal fluid and is adequate, recent evidence indicates that low-osmolality
electrolyte requirements per kilogram and because they oral rehydration fluids may be more effective in reducing
are dependent on others to meet these demands. This stool output. Compared with standard ORS, lower sodium
must be evaluated rapidly and corrected within 46 hours and glucose ORS (containing 75 milliequivalents of sodium
according to the degree of dehydration and estimated daily and 75 millimoles of glucose per litre, with total osmolarity
requirements. A small minority, especially those in shock of 245 milliosmols per litre) reduces stool output, vomiting,
or unable to tolerate oral fluids, may require intravenous and the need for intravenous fluids.
154 Hutchison's Paediatrics
Enteral Feeding and Diet Selection is unnecessary. Administration of a lactose load exceeding
5 g/kg per day is associated with higher purging rates and
It is now well recognised that continued enteral feeding treatment failure in children with diarrhoea and alternative
in diarrhoea aids in recovery from the episode and thus strategies for feeding such children may include the addition
continued appropriate feeding in diarrhoea is the norm. of milk to cereals as well as replacement of milk with
Once rehydration is complete, food should be reintroduced fermented milk products such as yogurt.
while oral rehydration can be continued to replace ongoing Rarely when dietary intolerance precludes the
losses from stools and for maintenance. Breastfeeding of administration of cows milk based formulations or milk, it
infants should be resumed as soon as possible. The usual may be necessary to administer specialised milk-free diets
energy density of any diet used for the therapy of diarrhoea such as a comminuted or blenderised chicken-based diet or
should be around 1 kcal/g, aiming to provide an energy an elemental formulation. It must be pointed out that although
intake of minimum 100 kcal/kg per day and a protein intake effective in some settings, the latter are unaffordable in most
of between 23 g/kg per day. With the exception of acute developing countries. In addition to rice-lentil formulations,
lactose intolerance in a small proportion with diarrhoea, the addition of green banana or pectin to the diet has also
most children are able to tolerate milk and lactose containing been shown to be effective in the treatment of persistent
diets. Thus in general withdrawal of milk and replacement diarrhoea. Figure 7.18 indicates a suggestive algorithm for
with specialised (and expensive) lactose-free formulations the management of children with prolonged diarrhoea.
Fig. 7.18: Algorithm for the management of children with prolonged diarrhoea
Gastroenterology and Hepatology 155
Other vaccines that could potentially reduce the burden of 4. Bhutta ZA. Persistent diarrhea. In: Guandalini S (Ed). Text-
severe diarrhoea and mortality in young children are vaccines book of Gastroenterology. Taylor and Francis; 2004.
against Shigella and enterotoxigenic E. coli (ETEC). 5. Denno DM, Stapp JR, Boster DR, et al. Etiology of
diarrhea in pediatric outpatient settings. Pediatr Infect Dis J.
Bibliography 2005;24:142-8.
6. Hahn S, Kim Y, Garner P. Reduced osmolarity oral
1. Ashkenazi S. Shigella infections in children: new insights.
rehydration solution for treating dehydration due to diarrhea
Semin Pediatr Infect Dis. 2004;15:246-52.
in children: systematic review. BMJ. 2001;323:81-5.
2. Bhutta ZA, Black RE, Brown KH, et al. Therapeutic effect
7. Jones G, Steketee RW, Black RE, et al. How many child
of oral zinc in acute and persistent diarrhea in children
in developing countries: pooled analysis of randomized deaths can we prevent this year?. Lancet. 2003;362:65-71.
controlled trials. Am J Clin Nutr. 2000;72:1516-22. 8. Oryan M, Prado V, Pickering LK. A millennium update
3. Bhutta ZA, Ghishan F, Lindley K, et al. Persistent and on pediatric diarrheal illness in the developing world. Semin
chronic diarrhea and malabsorption: working group report Pediatr Infect Dis. 2005;16:125-36.
of the second World Congress of Pediatric Gastroenterology, 9. Thapar M, Sanderson IR. Diarrhea in children: an interface
Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. between developing and developed countries. Lancet.
2004;Suppl 2:S711-6. 2004;363:641-53.
Trevor Richens
C H A P T E R
Paediatric Cardiology
Table 8.1: Conditions associated with congenital heart disease Table 8.2: Classication of congenital heart disease in childhood
Association Defect(s) Acyanotic defects
Chromosomal abnormality: Increased pulmonary blood ow:
Trisomy 21 VSD, AVSD (in 50%) Atrial septal defect
Trisomy 18 VSD, PDA, pulmonary stenosis (in 99%) Ventricular septal defect
Trisomy 13 VSD, PDA, dextrocardia (in 90%) Atrioventricular septal defect
5p/Cri-du-chat VSD, PDA, ASD (in 25%) Patent arterial duct
XO (Turner) Coarctation, aortic stenosis, ASD (in 35%) Normal pulmonary blood ow:
XXXXY (Klinefelters) PDA, ASD (in 15%) Pulmonary stenosis
Aortic stenosis
Syndrome:
Coarctation of the aorta
Noonan Dysplastic pulmonary stenosis
Cyanotic defects
Williams Supravalve aortic stenosis, branch
pulmonary stenosis Normal or reduced pulmonary blood ow:
DiGeorge VSD, tetralogy, truncus, aortic arch Tetralogy of Fallot
abnormality Transposition of the great arteries
CHARGE VSD, tetralogy Critical pulmonary stenosis
VACTERL VSD, tetralogy Ebsteins anomaly
Holt-Oram ASD Pulmonary atresia
Friedreichs ataxia Hypertrophic cardiomyopathy, heart block Tricuspid atresia
Apert VSD, tetralogy Single ventricle with pulmonary stenosis
Ellis-van Creveld Common atrium Increased pulmonary blood ow:
Pompes (GSD II) Hypertrophic cardiomyopathy Total anomalous pulmonary venous drainage
Leopard Pulmonary stenosis, cardiomyopathy, long Hypoplastic left heart syndrome
PR interval
Truncus arteriosus
Muscular dystrophy Dilated cardiomyopathy
Single ventricle without pulmonary stenosis
Tuberous sclerosis Cardiac rhabdomyomata
Pierre Robin VSD, PDA, ASD, coarctation, tetralogy Table 8.3: Causes of heart failure by age
Long QT syndrome Long QT interval and torsades de pointes First week Left heart obstruction (HLHS, aortic stenosis,
coarctation), arrhythmia
Maternal conditions:
First month Left to right shunt (VSD, AVSD, PDA, truncus
Rubella PDA, branch pulmonary stenosis arteriosus), arrhythmia
Diabetes VSD, hypertrophic cardiomyopathy Thereafter Rheumatic fever, dilated cardiomyopathy,
(transient) myocarditis, endocarditis, arrhythmia
SLE (anti-Ro/La Congenital heart block
positive)
atresia). In infancy, tetralogy is the most common cause,
Phenylketonuria VSD although transposition with VSD and other rare forms
Lithium Ebsteins anomaly of complex congenital heart disease can also present at
Sodium valproate Coarctation, HLHS this age. In older children, a presentation with cyanosis
Phenytoin VSD, coarctation, mitral stenosis would suggest pulmonary vascular disease complicating
Alcohol VSD a VSD or PDA. Untreated, the high pulmonary
pressures ultimately irreversibly damage the pulmonary
2. Is the child cyanotic? Although the absence of clinical vasculature resulting in high pulmonary resistance and
cyanosis does not exclude cyanotic congenital heart a reversal of the intracardiac shunt (right to left) with
disease, if it is present, it limits the potential diagnoses subsequent cyanosis. This is known as Eisenmengers
to a relatively small group of abnormalities. In the syndrome. Rarely tetralogy and other complex forms of
newborn, most commonly it would suggest TGA or congenital heart disease can present in later life.
severely obstructed pulmonary blood ow (tetralogy of 3. Is the child dysmorphic? Many children with congenital
Fallot, critical pulmonary stenosis, PAt and tricuspid syndromes have cardiac abnormalities, the principal ones
Paediatric Cardiology 159
of which are outlined in Table 8.1. Prompt recognition umbilicus in some children. The liver is often quite soft and
of a syndrome may alert the clinician to search for a difcult to feel in infants, particularly if the child is struggling
particular abnormality. so great care must be taken.
4. Is the child failing to thrive? There are many causes The heart enlarges in response to any chronic volume
of failure to thrive in infancy of which heart disease load. This may arise because of a right to left shuntASD,
is a relatively minor one. The predominant groups of VSD, PDA and AVSDbecause of valve dysfunction
cardiac disorders causing poor weight gain are those mitral regurgitation, aortic regurgitation and pulmonary
resulting in breathlessness and poor feeding. These regurgitationor because of a primary myocardial
include VSD, AVSD and PDA. Whilst some children abnormalityviral myocarditis and dilated cardiomyopathy.
with cyanotic abnormalities also fail to grow this is far In younger children, this can be felt as a sub-xyphoid heave
less common. by palpating just below the inferior end of the sternum.
5. Does the child have any thoracic scars? If the child has Children of all ages with a volume loaded heart may have a
had previous heart surgery, the type of scar may give parasternal heave felt with the palm of the hand on the left
clues to its nature. A median sternotomy scar suggests side.
an open-heart procedure during which the heart would Finish off palpation by carefully placing your index
have been stopped and opened. All major intracardiac nger in the suprasternal notch feeling for a thrill. If one is
abnormalities requiring a surgical repair are corrected in present, it is strongly suggestive of aortic stenosis, although
this manner. A right lateral thoracotomy scar is usually rarely pulmonary stenosis and a PDA can produce this sign.
only used for a right modied Blalock-Taussig shunt.
During this procedure a tube is interposed between the Auscultation
right subclavian artery and the right pulmonary artery, Auscultation is often difcult in children. The combination
providing an alternative source of pulmonary blood ow of fast heart rate, noisy breathing and a poorly cooperative
in children who have an obstructed native pulmonary child make it the most challenging part of the examination.
blood ow (tetralogy of Fallot, PAt, tricuspid atresia). To ensure nothing is missed you should follow a xed pattern
A left thoracotomy scar is used in the repair of aortic when listening to a childs heart. I would suggest listening
coarctation, ligation of patent arterial ducts, a left with the diaphragm at all points over the left side of the
Blalock-Taussig shunt and occasionally a pulmonary praecordium, followed by the right upper sternal edge and at
artery band (a ligature placed around the main pulmonary the back. At each point, it is important to listen to systole,
artery to protect the lungs from high pressures in children diastole and the heart sounds in turn. All can provide vital
with large VSDs). diagnostic information that is easy to miss when distracted
by a loud, obvious systolic murmur. Murmurs are classically
Palpation graded to permit easy comparison, systolic murmurs out of 6
Always start the examination by feeling the femoral and and diastolic out of 4 (Table 8.4).
brachial pulses simultaneously. A reduction in volume A full discussion of the auscultatory ndings associated
or absence of the femoral pulse is strongly suggestive of with different abnormalities will follow under the specic
coarctation of the aorta and should prompt closer examination conditions.
and investigation. Although classically textbooks talk of
radiofemoral delay this really only becomes appreciable as Innocent Murmurs
the child reaches adult size. Some children who have had By denition an innocent murmur has no associated with
previous procedures have an absent femoral pulse on one heart disease; however, it is an extremely common nding,
side only. It is, therefore, advisable to examine both femoral reason for referral and some clarication is needed. Innocent
pulses. murmurs can be heard in up to 80% of children at some
Palpation for an enlarged liver should then be undertaken. point. They can cause considerable diagnostic confusion so
The liver enlarges in heart failure and can reach below the if you are in doubt get a more experienced opinion. Innocent
Murmur 1 2 3 4 5 6
Systolic Barely audible Quiet Easily audible Associated with Audible without Audible from end
thrill stethoscope of bed
Diastolic Quiet Easily audible Associated with Audible without
thrill stethoscope
160 Hutchison's Paediatrics
hardware and software settings that are congured to view the severity of any narrowing or estimate the absolute
the rapidly moving structures within the heart. Four main pressure in a particular chamber.
types of imaging are used that look at various aspects of 4. Colour Doppler imaging superimposes Doppler infor-
cardiac function. mation on blood ow on the moving 2-dimensional image
1. Two-dimensional or cross-sectional echo produces of the heart. The technique uses different colours to
conventional ultrasound-type images of the heart represent both the direction of blood ow and its velocity
structures moving in real time (Fig. 8.2). This modality (Fig. 8.4). This mode allows identication of valve leaks
facilitates accurate anatomical diagnosis of heart or heart defects that might not be seen on 2-dimensional
conditions by imaging how the various structures relate imaging alone.
to each other. Echocardiography is now the mainstay of paediatric
2. M-mode echo takes a single line through the heart and cardiac diagnosis. The availability of high quality machines
plots all the information obtained against a time axis at relatively low cost has expanded the routine use of this
(Fig. 8.3). This mode is used for measurements and valuable technique such that it is now often undertaken by
calculations particularly concerning ventricular function. specialists in neonatology and general paediatrics as well as
3. Doppler ultrasound measures the velocity of blood moving paediatric cardiologists.
through the heart and great vessels. Using this data, it is
possible to estimate pressure differences at various points Cardiac Catheter
in the heart such as across the aortic, pulmonary, mitral
Cardiac catheterisation is both a diagnostic and treatment
and tricuspid valves, a VSD or PDA and thus measure
tool. Long thin plastic tubes (catheters) are introduced into
a vein or artery and threaded though the various chambers
of the heart. Direct pressure and oxygen saturation
measurements are taken and radio-opaque contrast is injected
into the heart to outline various structures and abnormalities.
This technique has evolved over recent years to permit many
common cardiac anomalies to be treated using this minimally
invasive approach. Suitable ASDs, patent arterial ducts,
VSDs, stenotic pulmonary and aortic valves as well as aortic
coarctation can all be treated by the transcatheter route using
specialised techniques.
CONGENITAL HEART ABNORMALITIES septum. These usually present as asymptomatic murmurs and
require only reassurance as most will close spontaneously and
it is unlikely the remainder would ever need to be closed.
ACYANOTIC CONGENITAL HEART DISEASE Clinically small muscular defects can be recognised by the
Ventricular Septal Defect typical high-pitched, harsh, pansystolic murmur, often well
localised over the left precordium. The exact position of the
Ventricular septal defect is the most common congenital heart murmur is dependent on the location of the defect within
abnormality accounting for a fth of all lesions. It is caused the septum. The absence of a precordial or sub-xyphoid
by a defect in the septum that divides the two ventricles. heave conrms the lack of a signicant left to right shunt,
Defects can exist in the muscular septum (muscular defects) and normal intensity of the second heart sound demonstrates
or in the membranous septum (perimembranous defects). The normal pulmonary artery pressure. Small perimembranous
symptoms and signs result from the ow of blood between the defects can be indistinguishable from muscular defects,
two ventricles through the defect. At birth the resistance to although the murmur tends to be higher on the left parasternal
ow through the lungs is equal to the resistance to ow to the border. When a perimembranous defect is suspected the early
body, i.e. the pulmonary vascular resistance (PVR) is equal diastolic murmur of aortic regurgitation must be excluded, as
to the systemic vascular resistance (SVR). Consequently this would constitute an indication for repair.
little blood will pass through the VSD and no murmur will Moderate sized defects, either muscular or peri-
be audible. Over the rst few days of life the PVR falls membranous, usually have a louder murmur. With an
resulting in a drop in right ventricular pressure encouraging increase in the volume of blood owing through the defect,
ow through a VSD and into the pulmonary circulation. there is a corresponding increase in the stroke volume of
When a VSD is present, blood can exit the left ventricle the left ventricle producing a parasternal and sub-xiphoid
through both aorta and VSD increasing the required output heave. In large defects, blood ow through the VSD is less
of the left ventricle. The VSD ow will increase the overall turbulent and the murmur will be quieter or even absent in
pulmonary arterial ow and thus venous return to the left completely unrestrictive defects. In these large defects, the
atrium (Fig. 8.5). The left heart, therefore, has to cope with heave is usually marked unless the PVR is elevated. With
increased volumes and enlarges producing a characteristic increasing size of defect, there is a proportional increase in
heave. Defects vary widely in size and position, as do the the pulmonary artery pressure resulting in a loud pulmonary
clinical features. component of the second heart sound.
The majority of defects are small communications between Infants with moderate to large defects develop the
the two ventricles through the perimembranous or muscular classical signs of heart failure as the PVR falls and the shunt
Fig. 8.5: Ventricular septal defectdiagram demonstrating left heart volume overload
Paediatric Cardiology 163
increases. Typically they fail to thrive and feed poorly due deployable devices. A small number of children with sub-
to breathlessness and gut oedema. On examination they are aortic defects will develop aortic regurgitation, which is an
tachypnoeic, tachycardic and sweaty have hepatomegaly indication for repair.
a marked heave, variable systolic murmur, loud second Untreated infants with large defects may die, usually
heart sound and a summation gallop (combined third and from concomitant respiratory infections. Alternatively
fourth heart sounds producing a noise similar to a horse the symptoms may resolve from 6 months onwards as
galloping). PVR increases due to inammation and thickening of
With a signicant VSD, the ECG may show evidence the pulmonary arterioles. These changes usually become
of biventricular hypertrophy and a sinus tachycardia. The irreversible at approximately 612 months, tending to
chest X-ray will show cardiomegaly and plethoric lung slowly worsen thereafter. When the effective PVR becomes
elds. Diagnosis can be conrmed by echocardiogram which greater than the SVR the haemodynamic shunt through the
will demonstrate the position and size of the defect, exclude VSD will reverse and the child will become cyanosed. This
or conrm additional lesions, measure the size of the left situation is known as Eisenmengers syndrome and will not
ventricle which will reect the degree of left to right shunt, improve with correction of the original cardiac defect.
and using Doppler estimate the right ventricular pressures to
demonstrate any pulmonary hypertension. Patent Ductus Arteriosus
The arterial duct is a vital foetal structure that connects
Management
the main pulmonary artery to the aorta. In utero, it allows
Large defects: Treatment is aimed at stabilisation of the blood to pass directly to the aorta from the pulmonary artery
infant and encouragement of growth prior to surgical repair. avoiding the high resistance pulmonary circulation. This
The mainstays of therapy include nasogastric feeding to right to left shunt exists because the PVR exceeds the
maximise caloric intake and minimise the energy expended SVR. At birth the rise in blood oxygen concentration together
during feeding. Medical therapy can be used to treat the with a reduction in circulating prostaglandins usually causes
symptoms of the intracardiac shunt and include diuretics spasm of the duct with eventual permanent closure. Ongoing
treat the compensatory salt and water retention that is patency of the duct beyond the immediate neonatal period
a consequence of heart failure, angiotensin-converting results in the development of a left to right shunt from
enzyme (ACE) inhibitors such as captopril reduce left aorta to pulmonary artery as the PVR drops (Fig. 8.6). The
ventricular afterload and encourage systemic ow. Digoxin signicance of this varies depending upon the size of the
can be used to combat excessive tachycardia and maximise child and size of the duct.
myocardial efciency. Caution should be exercised when Preterm infants have an increased risk of PDA. In this
using oxygen as it can cause pulmonary vasodilatation group, the ow of blood through the duct results in excessive
effectively worsening heart failure. Where infants have
respiratory distress in the presence of a signicant VSD,
continuous positive airway pressure (CPAP) with high
ow air may be of benet by increasing the intra-alveolar
pressure to avoid end-expiratory collapse whilst avoiding
excessive pulmonary vasodilation and subsequent increase
in intracardiac shunt.
Ultimately the majority of children with large defects will
require surgical closure of the defect. Where open cardiac
surgery is available, repair will usually be undertaken
within 6 months to prevent the development of pulmonary
vascular disease. Where only closed procedures are possible
a pulmonary artery band can be applied to protect the lungs
from excessive blood ow and high pressure, permitting
later closure.
Children with small to moderate defects may need no
therapy at all, if the haemodynamic shunt is small. Others
may slowly develop left heart overload and require repair
later in life, a number of these being suitable for transcatheter Fig. 8.6: Patent ductus arteriosusdiagram demonstrating left heart
closure using one of the growing number of catheter volume overload
164 Hutchison's Paediatrics
Fig. 8.8: Atrial septal defectdiagram demonstrating right heart volume overload
present as asymptomatic children or adults with a murmur Once the child has been resuscitated, a detailed assessment
or hypertension. can be made including ECG, chest X-ray and echo to both
conrm the clinical diagnosis and exclude any associated
Infants lesion. At this age, surgical repair is the only option and
The more severe forms of coarctation present within the should take place as soon as the child is stable. Prostaglandin
rst few weeks of life. In these, children closure of the duct should not be discontinued until time of repair.
results in subtotal or even complete obstruction to the aorta
(Fig. 8.10). The left heart fails due to the sudden increase Older Child
in afterload, the lower half of the body including liver, Older children or adults with coarctation, usually present
kidneys and gut become ischaemic and a severe metabolic at routine examination with either reduced femoral pulses
acidosis rapidly ensues. There is a very short history of or hypertension. The narrowing is usually milder and will
poor feeding, breathlessness and poor colour. The infant have progressed over a longer period of time allowing the
will be grey, peripherally shut down, poorly responsive, childs circulation to adjust by developing collateral arteries
cold, tachypnoeic, tachycardic, sweaty, have absent femoral around the obstruction. In some smaller children, there
pulses, hepatomegaly, a summation gallop and may or may may be a history of failure to thrive but usually they are
not have a murmur. symptom free. Examination will show a well, pink child
with reduced or absent femoral pulses, a loud second heart
Management sound and a systolic murmur heard over the back at the left
This situation constitutes a medical emergency. The child hand side of the spine. In teenagers and adults, there may be
should be resuscitated and vascular access obtained by a delay in the timing of the femoral compared to the radial
whatever means possible. As a priority the child should be pulse, so-called radiofemoral delay. Hypertension may be
started on a prostaglandin E (0.010.1 g/kg per minute) present and four-limb blood pressure recording may reveal
infusion as well as an intravenous inotrope (e.g. dopamine an arm/leg gradient, although its absence does not exclude
520 g/kg per minute). Prostaglandin E is used to open the the diagnosis.
arterial duct and also reduce the severity of the coarctation The ECG will show evidence of left ventricular
by relaxing the ductal tissue that may extend into the aortic hypertrophy, particularly if the coarctation is longstanding
wall. An unfortunate effect of prostaglandin E is that it can and chest X-ray may show characteristic features such as
cause apnoea at therapeutic doses and the child may need double aortic knuckle and rib notching (Fig. 8.11). An
intubation and ventilation. echocardiogram will conrm the diagnosis, allows assessment
Paediatric Cardiology 167
on the ECG or aortic regurgitation on the echo. Surgical of the valve cusps and in isolation is a relatively common
resection is the only treatment option currently available and abnormality.
unfortunately there is a risk of recurrence of the stenosis Mild pulmonary valve stenosis presents with an
soon after repair. asymptomatic ejection systolic murmur and click. The
murmur tends to be heard more to the left than with aortic
Pulmonary Stenosis stenosis, may radiate to the back and is not usually associated
with a suprasternal thrill. The second heart sound is often
As with aortic stenosis, pulmonary stenosis most commonly quiet and a heave will only be present in the more severe
occurs at the valve itself but can be seen below the valve (e.g. lesions. Mild or even moderately severe pulmonary stenosis
tetralogy of Fallot), above the valve or in the pulmonary can improve in childhood, thus a wait and see approach is
branches. Valve stenosis results from fusion or dysplasia often appropriate at presentation.
Paediatric Cardiology 169
Severe pulmonary stenosis will present in the newborn, CYANOTIC CONGENITAL HEART DISEASE
lesion, as a duct-dependent lesion. Whereas in aortic
stenosis the arterial duct allows the systemic circulation to Tetralogy of Fallot
be augmented by the pulmonary side, in pulmonary stenosis Tetralogy is the most common form of cyanotic congenital
the converse is true and pulmonary blood ow is derived heart disease comprising up to 10% of all lesions. It is
largely from the aorta (Fig. 8.14). Prior to the duct closure associated with Downs syndrome, deletions of chromosome
the infants will be cyanosed (due to a right to left shunt at 22 (DiGeorge syndrome) and VACTERL (vertebral defects,
atrial level), have a characteristic systolic murmur but be anal atresia, tracheo-oesophageal atresia, sacral aplasia,
otherwise well. Duct closure will herald hypoxia, acidosis renal and limb abnormalities), although it usually occurs in
and an abrupt deterioration in the child. isolation. Classically it was described as the tetrad of VSD,
The ECG will demonstrate right axis deviation and right ventricular outow tract obstruction, aorta overriding
right ventricular hypertrophy. In more severe cases, P the crest of the ventricular septum and right ventricular
pulmonale and partial right bundle branch block will be hypertrophy. In effect only two of these factors are important
present. Chest X-ray may show poststenotic dilation of the in the pathogenesis; a completely unrestrictive VSD and
pulmonary artery as a bulge around the left hilum together signicant obstruction to pulmonary blood ow (Fig. 8.15).
with oligaemic lung elds. As with aortic stenosis, echo Presentation depends on the degree of obstruction to
will conrm the diagnosis and estimate severity using pulmonary blood ow. The level of obstruction varies but
Doppler. It will also conrm that the right ventricle has usually comprises a degree of muscular sub-valve (infundibular)
grown to a size that will support a normal biventricular obstruction together with either valve or supravalve stenosis.
circulation. Because the VSD is large and does not restrict ow, if there
is mild to moderate pulmonary obstruction, there will be no
Management
net ow through the VSD and the child will be in a balanced
Transcatheter balloon valvuloplasty is now the treatment state, sometimes called a pink tetralogy. With more severe
of choice for this lesion, producing good results with a obstruction deoxygenated blood will ow right to left across the
very low requirement for re-intervention. The exception defect resulting in cyanosis. The obstruction tends to progress
to this is in Noonan syndrome where the pulmonary valve as the infundibular muscle hypertrophy increases culminating
is often severely thickened and classically unresponsive to in a behaviour known as spelling. During a hypercyanotic
valvuloplasty. In such cases, open surgical valvotomy is still spell without warning the cyanosis becomes acutely worse.
indicated. Balloon valvotomy is generally a very effective This may occur when the child has just been fed, is falling
treatment for this problem, although in newborns with severe asleep, waking up or when upset. It is likely a reduction in
obstruction, relief of the stenosis can precipitate dynamic the SVR causes an increase in right to left shunt. This leaves
sub-pulmonary obstruction which will usually resolve over a the right ventricle underlled permitting increased systolic
period of a few weeks. contraction and worsening of the muscular sub-pulmonary
170 Hutchison's Paediatrics
Management
The degree of cyanosis determines the timing of intervention.
If a child is pink or only mildly desaturated at presentation,
it is appropriate to keep them under observation and this
Fig. 8.15: Tetralogy of Fallotdiagram can be at a regular out-patient review once the arterial duct
closure is conrmed. The timing of repair in a well child
with only mild to moderate cyanosis (oxygen saturations of
75% or above) is controversial. Many centres would now
opt to repair at 6 months of age to minimise the amount of
infundibular muscle that needs to be resected. Other centres
prefer to defer elective surgery until a year of age by which
time the child will be signicantly larger.
Where a child presents with either more than moderate
cyanosis (oxygen saturation of less than 75%) or hypercyanotic
spells, surgical intervention is required. If the child has not
reached the age at which that centre would opt for complete
repair, a palliative procedure would be undertaken most
commonly in the form of a modied Blalock-Taussig shunt.
This procedure involves placing a Gore-Tex tube between
the subclavian artery and the pulmonary artery, usually on
the right side, allowing blood to ow into the pulmonary
Fig. 8.16: Chest X-ray, tetralogy of Fallot showing a boot-shaped
heart with upturned apex and oligaemic lung elds
circulation irrespective of any intracardiac obstruction.
Full repair requires closure of the VSD, resection of the
stenosis. The cycle is self-perpetuating and may result in sub-pulmonary muscle and enlargement of the pulmonary
hypoxic syncope and convulsions. Children with this problem valve orice. Where the pulmonary valve annulus is small
often develop a behaviour known as squatting, during which a patch is required to enlarge it, unfortunately rendering it
they crouch down; effectively increasing the SVR as well as regurgitant and introducing the possibility that a pulmonary
increasing venous return. valve replacement will be required later in life. Although
On examination infants with tetralogy have a characteristic the repair can be complex and requires full cardiopulmonary
ejection systolic murmur of pulmonary stenosis radiating bypass it now usually carries an operative mortality of less
through to the back with no ejection click. A right ventricular than 5%.
heave is invariably present. The degree of cyanosis varies
in newborns, but tends to worsen as the child grows and Hypercyanotic spells: When a child presents with a
if prolonged will result in clubbing of the digits and the hypercyanotic spell, it is important not to panic in front
plethoric facies of polycythaemia. The childs growth may of the mother or child. Calmly tuck the childs knees up
be affected, although in isolated tetralogy weight gain is to their chest and place them on the parents chest in this
often normal. ECG demonstrates right axis deviation and tucked position. Waft oxygen into the childs face but try
right ventricular hypertrophy. Chest X-ray typically shows not to upset them. If this is ineffective then venous access
a boot-shaped heart with upturned apex and oligaemic must be obtained and the child given intravenous volume
lung elds (Fig. 8.16). The diagnosis together with the level (10 ml/kg), morphine (100 g/kg) and propanolol (10 g/
and severity of the pulmonary obstruction can be determined kg) intravenously. Once stabilised they can be commenced
by transthoracic echo, which can help to exclude associated on propanolol 1 mg/kg three to four times per day until
anomalies such as an AVSD or right aortic arch. surgical repair or palliation can be undertaken.
Paediatric Cardiology 171
Tricuspid Atresia
This rare form of cyanotic congenital heart disease comprises
less than 2% of all infants with a cardiac anomaly. Absence
of normal RV lling in utero, results in poor development
of the right ventricular cavity, although most infants have a
moderate sized VSD allowing the pulmonary valve to develop
reasonably well. Systemic venous return passes through the
foramen ovale to mix with the pulmonary venous return
before entering the left ventricle. The mixed blood then
passes through the aortic valve to the systemic circulation
where a proportion will pass to the pulmonary artery via
a VSD or PDA (Fig. 8.19). In 30%, the great arteries are
transposed and the aorta arises from the hypoplastic right
ventricle. Some children, including all without a VSD, have
signicant obstruction to pulmonary blood ow and are duct
dependent. Others have adequate ow through the VSD to
the pulmonary circulation at birth; however, obstruction
may develop rapidly in the rst few weeks of life either at Fig. 8.20: Chest X-ray tricuspid atresia
VSD level or in the sub-pulmonary area such that cyanosis
Management
becomes a major problem. A small number never develop
obstruction and progress to heart failure when the PVR Early palliation in excessively cyanotic infants is by a modied
drops. Blalock-Taussig shunt as described under tetralogy of Fallot.
Usually cyanosis is obvious from birth and deepens with Further palliation follows the Fontan-type pattern and will be
time. Such infants may fail to thrive, develop nger-clubbing summarised later in the univentricular heart section.
and untreated are unlikely to survive more than 12 months. A
systolic murmur at the mid left sternal edge may be present Total Anomalous Pulmonary Venous Drainage
from the VSD or sub-pulmonary obstruction and the second This rare cyanotic abnormality accounts for less than 1%
heart sound will be single. Electrocardiography shows of all congenital heart disease; however, with recognition
left axis deviation, which in a cyanotic child is virtually and early surgical repair, it is curable. Although there are
diagnostic of tricuspid atresia. Chest X-ray typically shows three main forms, each with their own peculiarities, all share
a box like cardiac silhouette with pulmonary oligaemia a common pathophysiology. In foetal life, the pulmonary
(Fig. 8.20). Echo will conrm the diagnosis and show with venous conuence fails to fuse with the left atrium. The
great detail the VSD and sub-pulmonary area. This allows a pulmonary veins drain to the heart, through either an
tentative prediction to be made regarding the development of ascending vein to the superior vena cava, a descending vein
obstruction to pulmonary ow. to the inferior cava or directly to the coronary sinus and right
atrium (Fig. 8.21). As both pulmonary and systemic venous
return enters the right atrium, these children are dependent
on adequacy of the foramen ovale for the entire systemic
cardiac output. Obstruction at this level or any other impairs,
venous return causing a rise in pulmonary venous pressure
with accompanying pulmonary hypertension and pulmonary
oedema. Obstruction may be present in the rst few hours
of life (particularly in infracardiac TAPVD or TAPVC), can
develop in the rst few weeks as the PVR drops or may take
many months to develop as the PFO becomes restrictive.
If venous return is unobstructed, these infants have mild
cyanosis, are slow to grow but often have no other physical
signs. As obstruction develops cyanosis deepens and the
child becomes acidotic causing tachypnoea and tachycardia.
The infant will have hepatomegaly, a gallop rhythm and a
Fig. 8.19: Tricuspid atresiadiagram right ventricular heave.
Paediatric Cardiology 173
ECG demonstrates right axis deviation, right ventricular type repair when older (discussed later). Some children with
hypertrophy and P pulmonale. Chest X-ray shows pulmonary Pat/IVS have a reasonably well developed right ventricular
venous congestion and in chronic supracardiac TAPVD, cavity and tricuspid valve. This subgroup may benet from
the widened superior mediastinum gives the mediastinal re-establishing anterograde ow from the right ventricle to
silhouette a gure of eight appearance. Echo is usually the pulmonary artery to encourage further growth of the
diagnostic conrming the pattern of pulmonary venous right ventricle and potentially a biventricular repair.
drainage and demonstrating any area of obstruction. Where a VSD is present and the pulmonary arteries are
conuent, the child will still need initial palliation with a
Management modied Blalock-Taussig shunt; however, at a later stage,
There is no effective medical therapy and all children with the VSD can usually be closed and a tube interposed between
this condition will eventually die without repair. A small the right ventricle and the pulmonary arteries. Both of these
percentage of children will go on to develop pulmonary vein types of PAt are duct-dependent requiring prostaglandin E
obstruction even after successful early repair. infusion to maintain ductal patency without which infants
will die upon duct closure.
Pulmonary Atresia Prognostically the worst anatomy is PAt with MAPCAs.
Pulmonary atresia is a widely varying condition; however, In these children, MAPCAs arise directly from the aorta
all infants are cyanosed and most are duct dependent. There and supply individual segments of lung sometimes with
are three main groups: (1) PAt/intact ventricular septum little communication between them and any rudimentary
(IVS), (2) PAt/VSD and conuent pulmonary arteries and main pulmonary artery. Extensive reconstructive surgery
(3) PAt/VSD and major aortopulmonary collateral arteries is often required to create a pulmonary artery conuence
(MAPCAs) (Fig. 8.22). large enough to permit later insertion of a right ventricle to
All children are cyanosed at birth. The second heart pulmonary artery conduit and VSD closure.
sound will be single but there may be no murmurs unless
MAPCAs are present in which case continuous murmurs are Ebsteins Anomaly
often heard throughout the chest. In this rare abnormality, the tricuspid valve annulus has
Where no VSD is present, the absence of ow through the developed within the right ventricle itself. In effect part of the
right ventricle in utero results in a hypoplastic right ventricle. right ventricle functions as part of the right atrium, the right
Most children with this condition, require a modied Blalock- ventricular cavity volume is signicantly reduced; the tricuspid
Taussig shunt in the neonatal period followed by a Fontan- valve is abnormal often with signicant regurgitation and the
174 Hutchison's Paediatrics
Management
Medical treatment is useful only for arrhythmia management.
Surgical intervention is difcult and controversial with a
Fig. 8.23: Ebsteins anomalydiagram signicant risk. The exact procedure must be tailored to
the individual case and will be determined mainly by the
right ventricular outow tract may be obstructed (Fig. 8.23).
adequacy of the right ventricle.
In severe cases, the abnormality causes huge enlargement of
the right atrium in utero such that the sheer size of the heart Hypoplastic Left Heart Syndrome and other
impedes lung development and the child dies in the newborn
Forms of Univentricular Heart
period. In less severe cases, the pulmonary artery ow is
obstructed and deoxygenated blood tends to shunt right to left Hypoplastic left heart syndrome is the broad term given
across the atrial septum causing cyanosis and poor exercise to describe inadequacy of the left ventricular size in
ability. Mild cases are virtually asymptomatic and present late combination with stenosis or atresia of the mitral and aortic
in life with either right heart failure or arrhythmias. valves and hypoplasia of the aortic arch. Coarctation is a
Clinically there is variable cyanosis and the neck veins common association. As with aortic stenosis, the systemic
may be distended demonstrating prominent V waves due to circulation is dependent on ow through the arterial duct,
Paediatric Cardiology 175
so duct constriction causes a low cardiac state with severe Successful long-term palliation of any single ventricle
acidosis and hypoxia. Such children require resuscitation circulation is critically dependent on ventricular function.
and prompt administration of prostaglandin E as described Therefore, the surgical strategy employed must ensure that
previously. Despite these measures, infants with HLHS the volume load placed on the ventricle is kept to a minimum.
cannot survive without radical surgical palliation in the form Ultimately the palliation diverts the systemic venous drainage
of a Norwood procedure. Briey, this operation bypasses the around the heart, allowing it to drain directly to the pulmonary
left heart by removing the atrial septum, transecting the main artery and this is usually achieved in two stages given as
pulmonary artery above the valve and connecting it to the follows: (1) During the rst procedure the superior vena
systemic arterial circulation using a Blalock-Taussig shunt. cava is disconnected from the right atrium and reconnected
The proximal pulmonary artery stump is then connected to directly to the pulmonary artery, reducing the volume load
the side of the ascending aorta to direct the right ventricular on the heart but leaving the child still cyanosed. (2) A second
cardiac output into the aorta and the aortic arch enlarged and nal procedure then redirects the inferior vena caval ow
using a patch to relieve any further obstruction (Fig. 8.25). to the lungs, usually by means of an extracardiac conduit. In
This operation, undertaken in the newborn period, carries this way, almost all deoxygenated blood now drains directly
a signicant risk even in the best centres and is only the to the pulmonary circulation where it is oxygenated before
rst of three operations that will be required for long-term returning to the heart (Fig. 8.25).
palliation. It is, therefore, unsurprising that after appropriate The long-term prognosis of children with univentricular
counselling many families elect not to proceed down a forms of heart disease is constantly improving as the
surgical route and opt for medical palliation understanding techniques for repair continue to develop. Currently life-
that the infant will not survive more than a few days. expectancy without a cardiac transplant is in the third decade,
Other forms of heart disease where only a single and quality of life is reasonable accepting reduced physical
functioning ventricle exists do not require such radical early
capacity. Clearly, given the resources required to palliate
palliation. The key to presentation and early management is
children with univentricular circulations for what appears to
pulmonary blood ow. If ow to the pulmonary circulation
be a relatively short period of time, harsh decisions must
is obstructed, the child will usually be duct dependent,
be made regarding appropriateness of treatment where
present early with cyanosis and require a modied Blalock-
healthcare funding is limited.
Taussig shunt to establish effective blood ow to the lungs.
Alternatively if there is no obstruction to pulmonary blood
Vascular Ring
ow, the child will present with tachypnoea and failure to
thrive as the PVR drops and ow increases. Such children Numerous abnormalities of great artery development can occur,
often benet from having a restrictive band placed around most of which are rare and many insignicant. A vascular ring
the pulmonary artery to limit ow, protect the pulmonary exists where there is a continuous ring of structures surrounding
circulation and prevent volume loading the heart. the trachea and oesophagus. As the child grows, this ring can
176 Hutchison's Paediatrics
Fig. 8.27: Vascular ring due to double aorta (lateral view barium swallow)
The pathology seen in the heart results from an immune in all children particularly when a tachycardia is present
reaction triggered in certain individuals by exposure to so the appearance of a soft diastolic murmur at the apex
Lanceeld group A streptococci, usually acquired through an is much more suggestive of early carditis. These ndings
upper respiratory tract infection. Not all group A streptococci in a child with other manifestations of rheumatic fever
cause rheumatic fever and some conicting evidence should prompt urgent further investigation as unrecognised
suggests that only those belonging to certain M serotypes or untreated carditis can result in arrhythmias and heart
are responsible for the disease. There also seems to be a failure.
familial tendency to develop the disease and the expression Electrocardiography conrms a sinus tachycardia and
of certain HLA groups on a hosts B cells may make them often shows lengthening of the PR interval, a characteristic
more susceptible to rheumatic fever. nding in acute rheumatic fever. Echo may show early valve
Antibodies produced in response to a streptococcal dysfunction, usually regurgitation of the left heart valves,
throat infection in a susceptible host react to both the reduced ventricular function or a pericardial effusion.
streptococcal M protein and the myosin and laminin Serology will show evidence of streptococcal infection
laments within the hosts heart. Although antibodies to with a raised antistreptolysin O (ASO) titre greater than 200
host myosin cause the myocarditis seen in acute rheumatic IU/ml and often much higher. DNase B is a more sensitive
fever, it is the reaction to laminin that cause the endocarditis indicator of streptococcal infection but will not start to rise
and valve dysfunction so characteristic of acute rheumatic for 12 weeks. Other non-specic indicators of a systemic
heart disease. inammatory process will also be raised including C-reactive
Peak incidence occurs between 10 years and 14 years, protein (CRP) and erythrocyte sedimentation rate (ESR).
but rheumatic fever can be seen in children as young as 3
Management
years and adults as old as 30 years. Carditis is most marked
in those affected under 5 years of age. Management has four distinct aims:
Acutely the carditis always involves the endocardium, 1. The infection that triggered the inammatory response
usually the myocardium and occasionally the pericardium. must be eradicated to remove the immune stimulus.
Late sequelae are most commonly related to mitral or aortic High-dose intravenous or intramuscular benzyl penicillin
valve damage. should be given for 3 days followed by high-dose oral
Typically the rst signs of carditis are a tachycardia treatment for a further 10 days. Dose will be dependent
and a new murmur. Although the most common murmur on weight.
seen in acute rheumatic fever is the apical systolic murmur 2. The acute inammatory response must be suppressed. Bed
of mitral regurgitation, systolic murmurs are very common rest and high-dose aspirin are the mainstays of treatment.
178 Hutchison's Paediatrics
Some centres advocate the use of corticosteroids, although the nger tips (Oslers nodes), microemboli in the nail beds
there is limited evidence for their use. Acute inammation (splinter haemorrhages), embolic infarctions in the retina
can be monitored by measuring the ESR on a daily basis. (Roths spots) and anaemia of chronic disease. These ndings
When this has normalised bed rest can be stopped and are now rarely seen, and more commonly the child will
moderate exercise positively encouraged. Similarly high- present with a fever, tachycardia, changing or new murmur,
dose aspirin (100 mg/kg per day in four doses) is usually splenomegaly, splinter haemorrhages and haematuria.
given until at least 2 weeks after the ESR has returned
to normal to prevent any rebound inammation. Whilst Investigation
using high-dose aspirin, it is sensible to measure serum The most important management step in any child with
levels to avoid overdose, maintaining a level of 2 mmol/L suspected IE is avoidance of antibiotics before blood cultures
(2430 mg/100 ml). are taken. At least 3 and preferably 6 sets should be obtained
3. Further streptococcal infections must be prevented. from different venepuncture sites. The microbiologist must
This is adequately achieved using moderate dose oral be made aware of the suspected diagnosis, as occasionally
phenoxymethylpenicillin (250 mg BD) and encouraging causative organisms can be very difcult or slow to grow
compliance. Where compliance is questionable, an in culture. Blood should also be taken for white cell count,
alternative would be intramuscular benzathine penicillin. haemoglobin, ESR and CRP. An ECG should be recorded
Currently it is recommended that prophylaxis be as occasionally IE around the aortic valve can result in heart
continued throughout childhood and adolescence up to 21 block and a transthoracic and/or transoesophageal echo
years of age. should be obtained. It must be emphasised that the absence of
4. Treatment of coexisting cardiac dysfunction is largely vegetations on echo does not exclude endocarditis; however,
supportive with diuretics, digoxin and ACE inhibitor. when seen they conrm the diagnosis.
It is best to avoid surgical intervention in the acute
phase, although occasionally this is required. Ultimately Management
chronic valve dysfunction will often require repair or
replacement. Appropriate intravenous broad-spectrum antibiotics can be
given after blood cultures have been taken. The agents used
Infective Endocarditis can be modied once the target organism and its sensitivities
have been identied. Usually parenteral therapy is continued
Whenever bacteria enter the bloodstream of a patient with a
for 6 weeks to ensure eradication of deep-seated infection
structural heart abnormality, there is a possibility of seeding
as judged clinically and by inammatory markers (CRP
and infection at the site of the lesion. Structural heart lesions
and ESR). Surgical excision of vegetations may be required
cause areas of turbulence and stagnant ow where bacteria
where they pose a serious risk in case of embolism or they
can dwell and attach/infect the endocardium. This may be at
are affecting cardiac function. Severe valve dysfunction may
the site of the lesion such as in the case of a regurgitant mitral
also require surgical treatment acutely; however, it is best to
valve or where the resultant jet hits the myocardium such as
sterilise the area rst using prolonged antibiotic therapy
where a VSD jet strikes the opposing right ventricular wall.
prior to attempting to repair or replace a damaged valve.
Bacteria can enter the circulation from a variety of sources,
although poor dental hygiene and dental procedures causing
Prophylaxis
Streptococcus viridans to enter the bloodstream are perhaps
the commonest cause. Staphylococcus aureus is another Antibiotic prophylaxis is no longer recommended in the
common causative organism which enters through infected United Kingdom. This decision was based on the lack of
skin lesions (e.g. eczema) or during tattoos and piercings. evidence that the widespread use of antibiotic prophylaxis
When bacteria infect the endocardium, they can form inuenced the development of endocarditis. Different
vegetations (small lumps attached to the endocardium by countries vary widely in their recommendations and for
exible stalks) or they can invade the myocardium causing many antibiotic prophylaxis remains recommended for any
abscess formation. child with an at risk cardiac lesion undergoing an invasive
Infective endocarditis (IE) should be suspected in any child dental or surgical procedure likely to cause a signicant
with a known structural heart abnormality and an unexplained bacteraemia. All cardiac lesions producing a high velocity
febrile illness. Classically IE has been described as sub-acute jet or turbulent ow are considered at risk of endocarditis.
bacterial endocarditis (SBE). This name derives from the These include aortic stenosis, mitral regurgitation, VSD and
pre-antibiotic era where the disease often went undiagnosed PDA. Antibiotic prophylaxis is not required for low velocity
for many weeks and the child demonstrated signs of chronic lesions such as ASD, mild pulmonary stenosis or 6 months
infection such as nger-clubbing, painful embolic nodes in following complete repair of lesions such as VSD or PDA.
Paediatric Cardiology 179
Mucocutaneous Lymph Node Syndrome cycle. Chest X-ray may demonstrate a globular, enlarged
(Kawasaki Syndrome) cardiac silhouette (Fig. 8.28), and the diagnosis is conrmed by
echocardiogram (Fig. 8.29) which will also allow estimation of
Kawasaki syndrome is an idiopathic vasculitis that is often
the size of the collection and show signs of impaired systemic
unrecognised but is important due to potential coronary artery
venous return (tamponade). Further investigation centres
involvement. Key features of presentation are persistent
on establishing the cause, ASO titre, viral titres, CRP and
fever, a miserable and irritable child, conjunctivitis,
ESR should routinely be sent and a Mantoux test performed.
lymphadenopathy, swelling of the lips, tongue, hands
Where pericardiocentesis is indicated examination of the uid
and feet followed later by desquamation. Coronary artery
aspirated will usually conrm the diagnosis.
inammation results in aneurysm formation with intraluminal
thrombus that may occlude the artery causing myocardial Management
infarction. Early recognition of the disease together with
prompt administration of immunoglobulin has reduced the In the absence of tamponade, most cases of pericarditis will
incidence and severity of coronary artery involvement and settle with appropriate treatment of the underlying cause and
its potentially fatal sequelae. If aneurysms are present, long- supportive therapy such as bed rest, oxygen and analgesia.
term treatment with aspirin should be offered, as the risk of Where tamponade is present, the pericardial uid should be
future coronary artery disease is raised.
Pericarditis
Inammation of the pericardium with the accumulation of
uid around the heart may occur for a variety of reasons.
Pericarditis resulting from viral infections, rheumatic fever,
end stage renal failure, malignancy or systemic inammatory
disorders such as juvenile chronic arthritis now constitutes
the bulk of cases. Tuberculosis remains an important if
less common cause than previously. Similarly, with the
widespread use of antibiotics, bacterial pericarditis usually
secondary to pneumonia is also now rare.
Clues to the cause of the pericarditis will often be gained
from the history. Most children will have some degree of chest
pain that will vary in intensity with cause and degree of uid
accumulation (pain often eases as the volume of pericardial
uid increase or when the child leans forward). A fever is
often present as is general malaise and lethargy. Symptoms
attributable to pericardial uid accumulation depend on both
Fig. 8.28: Chest X-rayshowing pericardial effusion
volume and rate of accumulation. A small amount of uid
entering the pericardium suddenly (e.g. an intravascular
cannula perforating the right atrium) will be more disabling
than a considerable volume accumulating over time (e.g.
tuberculosis). In general, as more uid accumulates, the
child will become increasingly breathless with worsening
exercise tolerance. The child will often be more comfortable
sitting forward. The cardinal signs are a pericardial friction
rub (a scratching sound varying as much with respiration
as it does with the cardiac cycle) and mufed heart sounds.
With signicant pericardial uid accumulation, signs of
tamponade will be present including raised jugular venous
pulsation, pulsus paradoxus, tachycardia and hepatomegaly.
ECG will usually show sinus tachycardia, reduced voltage
complexes and saddle-shaped ST segment elevation. If the
effusion is signicant, the heart may swing with respiration
causing a variation in complex morphology with the respiratory Fig. 8.29: Echocardiogram showing pericardial effusion
180 Hutchison's Paediatrics
aspirated and if necessary a drain left in situ. Where bacterial pooled immunoglobulin and other more aggressive forms
or tuberculous pericarditis is present, surgical exploration of immunosuppression. Currently there is no convincing
and lavage may be required to prevent the later development evidence that any are of benet.
of pericardial constriction. A minority of children may require cardiac transplantation
where the heart fails to recover.
Myocarditis
Myocarditis can be caused by viral infection or rarely as Dilated Cardiomyopathy
part of autoimmune systemic inammatory disorder. Viral Dilated cardiomyopathy is usually idiopathic, although
myocarditis results from infection by a wide variety of approximately 10% are the end result of viral myocarditis.
agents including enteroviruses (particularly Coxsackie B), Other causes are familial inheritance, previous anthracycline
adenovirus, hepatitis C and HIV. It is unclear why in the chemotherapy, a metabolic derangement such as acylcarnitine
majority of children myocarditis is a mild, transient illness, deciency and others are part of a systemic myopathic process
whereas in others it can be rapidly fatal. The degree to such as Duchenne muscular dystrophy or a mitochondrial
which an individual is affected ranges considerably from cytopathy. Whatever the underlying process the left
asymptomatic ECG evidence of myocarditis during viral ventricular function is impaired resulting in enlargement that
epidemics to fulminant cardiogenic shock a few days following in turn reduces function further. With increasing enlargement
a usually unremarkable viral illness. Just as viral myocarditis the mitral valve annulus dilates causing regurgitation, which
varies widely in its severity so do signs at presentation. further strains the failing left ventricle.
Some children demonstrate only a minor tachycardia and Infants typically present with failure to thrive, poor
summation gallop; whilst others are peripherally shut down feeding and tachypnoea. Older children generally complain
(cold, grey and clammy), have low volume pulses, a marked of a gradual decline in exercise tolerance, often culminating
parasternal heave and hepatomegaly. in orthopnoea and resting tachypnoea. Examination will
Patients with myocarditis have a variable outcome. demonstrate the classical triad of tachypnoea, tachycardia
Those with only minor symptoms will usually fully recover, and hepatomegaly. In addition, there may be a marked
as surprisingly will those with fulminant myocarditis, heave, gallop rhythm and the apical systolic murmur of
if they can be supported through the acute illness. Those mitral regurgitation.
children who present with moderate to severe impairment Diagnosis is conrmed on echo and further investigation
of ventricular function have the worst prognosis, with many revolves around nding a treatable cause. In most cases,
having long-term ventricular dysfunction. none is found and treatment is supportive and symptomatic.
The ECG usually shows low voltage complexes and Children are usually started on diuretics and digoxin,
may demonstrate ST changes, QT prolongation and possibly with the addition of ACE inhibitors and beta blockers
ectopic beats or sustained arrhythmias. Chest X-ray usually such as carvedilol now being commonplace. Some form
demonstrates pulmonary plethora; however, the cardiac of anticoagulation is often required to prevent thrombus
outline may or may not be enlarged (acutely, although formation in the ventricular chamber.
ventricular function is poor, the ventricle may not have had It is unusual for there to be a signicant improvement in
time to dilate). Blood serology for commonly responsible function and most will deteriorate with time. Where possible
viral agents should be sent and a metabolic screen should be a cardiac transplant may be the only long-term solution.
considered in younger children to exclude rare but treatable
causes. The gold standard investigation to conrm the Hypertrophic Cardiomyopathy
myocarditis is myocardial biopsy; however, many centres
Hypertrophic cardiomyopathy is often inherited in an
rely on a clinical diagnosis with or without serological
autosomal dominant manner, although sporadic cases do
conrmation of viral infection.
occur. It is also seen in children with Noonan syndrome.
Management Thickening of the left ventricular wall may be concentric
or predominantly within the septum (asymmetrical septal
All children with this disease need appropriate treatment for hypertrophy). These changes result in impaired lling of
ventricular dysfunction. This will range from diuretics and the left ventricle and where asymmetrical hypertrophy is
ACE inhibitors for those with moderate symptoms, up to present sub-aortic obstruction develops. Unfortunately all
full intensive care with inotrope support and even mechanical forms are at risk of ventricular arrhythmias and sudden death
assist devices (if available) for children with fulminant particularly on exercise.
heart failure. Many specic treatments to address the Many children are asymptomatic at presentation and
myocarditic process itself have been tried including steroids, discovered during screening where another family member
Paediatric Cardiology 181
is affected or where a murmur has been detected and referred in childhood. Atrial or junctional ectopic beats can be
for investigation. Other children may present with exertional recognised as narrow complex and may have a preceding
dyspnoea, chest pain, dizziness or syncope. abnormal P wave. They are benign and require no further
Diagnosis is by echocardiogram. Whilst the ECG may investigation. Ventricular ectopics are broad complex and
show changes of hypertrophy and strain, a normal test does also occur in healthy children; however, occasionally they
not exclude the diagnosis. When a diagnosis has been made, can indicate underlying myocardial disease, electrolyte
screening should be offered to rst-degree relatives. derangement or drug ingestion. When they can be shown to
If signicant hypertrophy is present intense, exercise disappear on exercise they require no further investigation.
should be avoided and beta blockers may be used for symptom Three types of rhythm abnormality deserve further attention;
control. Although many treatments including surgical (1) supraventricular tachycardia (SVT), (2) ventricular
resection of the muscle have been tried the only measure tachycardia (VT) including torsades de pointes and (3)
shown to be of benet in these patients is an implantable complete heart block (CHB).
debrillator.
Supraventricular Tachycardia
HEART RHYTHM ABNORMALITIES Supraventricular tachycardia in childhood is a narrow
complex tachycardia, with rates usually of between 200 and
Normal
300. There are many different underlying mechanisms but
Normal heart rate, like blood pressure, varies with age. most fall into two groups.
A neonate should have a rate of 110150 beats per minute 1. Reentry arrhythmias: These arrhythmias are by far
(bpm), infants 85125 bpm, 35 years 75115 bpm and the commonest and are caused by an electrical circuit
over 6 years 60100 bpm. The heart rate in infants may developing either through the AV node (e.g. Wolff-
rise as high as 220 bpm when febrile. Sinus arrhythmia Parkinson-White) or within the atria (e.g. atrial utter)
is common in children and can produce a marked drop in (Fig. 8.30). The electrical impulse passes around the
heart rate during expiration. Extra beats are also common loop repeatedly sending off an action potential to atria
182 Hutchison's Paediatrics
and ventricles with each circuit. In most childhood, SVT (Fig. 8.31), or may show a prolonged QT interval suggesting
including Wolff-Parkinson-White syndrome the reentry a VT is responsible for the symptoms (below). Ideally a
circuit involves the AV node and an accessory pathway 12-lead ECG should be recorded during the tachycardia
(extra piece of conduction tissue connecting the atria to that will provide the optimum information for an accurate
ventricles). These arrhythmias tend to be paroxysmal in diagnosis. Where episodes are infrequent obtaining a 12-
nature and usually have rate of 200250 bpm. In atrial lead ECG may prove impossible in which case ambulatory
utter, the circuit occurs within the atria often around the recordings can be obtained using one of the many systems
foramen ovale and the atrial rate is faster ranging from 500 now available. An echocardiogram is also performed to
bpm in the newborn to 300 bpm in adolescents (usually exclude associated structural heart disease.
only alternate beats are conducted to the ventricles).
2. Automatic tachycardias: These arrhythmias are also Management
known as ectopic tachycardias. They arise from increased Acutely, re-entry forms of tachycardia may respond to vagal
automaticity of a group of cells within the myocardium manoeuvres. In infants, immersing the face in ice cold water
(Fig. 8.30). Essentially the abnormal focus depolarises at for 5 seconds may be tried. Older children can be taught
a faster rate than the sinus node, thus taking over the role to perform a Valsalvas manoeuvre. If these measures fail,
of pacemaker. If the rate of depolarisation exceeds normal intravenous adenosine is a very effective alternative. Because
for the child concerned, it is designated a tachycardia. it has a very short half-life in the circulation it should be
These forms of tachycardia tend to be incessant and have injected through a large cannula in a proximal vein with a rapid
lower rates of 160220 bpm. bolus and ush. By convention a small dose is used initially
(0.05 mg/kg) which is increased in steps to 0.25 mg/kg (max
Presentation 12 mg)). If this fails, it is likely the arrhythmia is automatic
Infants are unable to communicate symptoms of palpitation. in nature. Acutely automatic tachycardias are harder to
Due to this, SVT lasting less than 24 hours may remain control and often require preloading with an antiarrhythmic
undiagnosed. When prolonged, however, symptoms of agent such as amiodarone prior to synchronised electrical
heart failure (poor feeding, sweating and poor colour) cardioversion (0.51 J/kg).
develop, raising awareness of the problem. Incessant, Chronically many children with infrequent short
automatic tachycardias tend to have slower rates and episodes of SVT require no treatment and adequate
cause less haemodynamic compromise. They usually take explanation is sufcient to reassure them and their parents.
longer to present and often do so with a form of dilated Where episodes are infrequent but of long duration,
cardiomyopathy. In contrast to infants, older children will patients can be offered a pill in pocket form of treatment.
complain of odd feelings, thumping or uttering within the This involves the child carrying a supply of verapamil
chest after relatively short episodes. More rapid forms can or a beta blocker to take only when an attack starts. The
be associated with chest pain, breathlessness and dizziness, medication is designed to terminate the attack rather than
particularly when prolonged. prevent it. Where episodes are frequent many families
prefer preventative treatment, usually with digoxin, beta
Investigation blockers or verapamil. If the baseline ECG demonstrates
The paroxysmal nature of many tachycardias makes accurate Wolff-Parkinson-White syndrome, digoxin is considered
diagnosis difcult. A baseline ECG may reveal the short contraindicated at most ages and should be avoided (it can
PR interval and delta wave of Wolff-Parkinson-White theoretically accelerate conduction through the accessory
Paediatric Cardiology 183
pathway allowing rapid ventricular depolarisation and heart block can also be seen rare forms of congenital heart
raising the chance of VT or brillation). By convention disease such as congenitally corrected TGA and in atrial
the presence of SVT in an older patient with documented isomerism. The most common cause of acquired heart block
Wolff-Parkinson-White syndrome is considered to be is iatrogenic and is a complication of open heart surgery when
an indication for transcatheter radiofrequency ablation. the conduction system is damaged. Often this is a transient
If other forms of SVT persist despite medical treatment, problem lasting no more than a few weeks; however, in
radiofrequency ablation of the accessory pathway can be some children it can persist requiring a pacemaker. Bacterial
offered to abolish the arrhythmia. endocarditis particularly around the aortic valve can destroy
the junctional tissue and also cause heart block.
Ventricular Tachycardia/Fibrillation In the congenital form, if an infants heart rate is greater
than 55 bpm and there is no heart failure, no treatment is
Ventricular arrhythmias are very rare in childhood even after indicated and the outlook is reasonable. Where the heart rate
congenital heart surgery. There are, however, an expanding is slower or heart failure coexists then a pacemaker may be
group of inherited conditions known to predispose individual required. In acquired forms, where the block is permanent a
patient to ventricular tachycardiac and sudden death. These pacemaker is always indicated.
comprise the long QT syndromes, Brugada syndrome and
arrhythmogenic right ventricular dysplasia. The inheritance CASE STUDIES
of these conditions is complex and sporadic cases occur.
Most affected individuals have an abnormal resting 12-lead 1. Infant VSD
ECG and many have a prolonged QT interval. A 4-week-old child presents with failure to complete feeds,
Once an individual patient has been diagnosed with one poor weight gain and sweating. On examination a cachectic
of these disorders close family members should be offered child is noted with a respiratory rate of 60, moderate sub-
screening either by 12-lead ECG or where available genetic costal in drawing, normal pulses, an enlarged liver, a marked
analysis for the culprit gene. sub-xyphoid heave and loud second heart sound. There is a
Where an effected individual is identied treatment 2/6 systolic murmur audible at the upper left sternal edge and
with a beta blocker or an implantable debrillator is usually radiating to the lower left sternal edge.
indicated.
Name three possible diagnoses.
Complete Heart Block VSD, AVSD and truncus arteriosus. Not PDA as murmur
In complete heart block (CHB), the electrical activity of the wrong, note loud PSM not a constant nding in large VSDs.
atria is isolated from that of the ventricles. The atria beat at one What investigations are required?
rate whilst the ventricular rate (effective heart rate) is slower ECG, Echo.
(Fig. 8.32). This is a rare condition. The congenital form is
usually seen in newborns where the mother has circulating What medical treatment measures would you take?
anti-La and anti-Ro antibodies and may have systemic lupus Introduce high calorie nasogastric feeds, start a loop diuretic
erythematosus or a related connective tissue disorder. These such as furosemide together with spironolactone, refer for
antibodies cross the placenta and damage the heart particularly surgical correction before 6 months of age (risk of irreversible
targeting the conduction system. Occasionally congenital pulmonary hypertension thereafter).
184 Hutchison's Paediatrics
C H A P T E R
Care of the Paediatric
Surgical Patient 9
BASIC PAEDIATRIC SURGERY taking and examination, which plays a pivotal role in further
dealing with patients and improving the future career.
A child manifesting with a disease may be having other
INTRODUCTION occult problem involving other system of the body which all
This preliminary chapter on paediatric surgery provides a can be explained by a single cause called as the sequence
birds eye view about the paediatric surgical diseases and for example Pierre Robin sequence is a condition in which
about the bedside history taking skills required for such there is cleft palate, micrognathia and glossoptosis. The
patients. The essential preoperative and postoperative care presence of these entire three problems is due to a small size
required for such patients is described. The later part of the mandible, which causes the tongue to fall back and prevent
chapter deals with fluid and electrolyte management that closure of the two halves of secondary palate during the
is the crux for successful management of the the surgical developmental period. If all the group of disorders cannot be
children. It is a must for every medical practitioner to explained by single aetiology then it is called as syndrome.
know about paediatric surgical illness for timely diagnosis, Some innocuous superficial manifestation may really be
appropriate management, safe transportation and referral to representative of severe dreadful underlying disease in
higher centres for complicated illnesses needing tertiary level paediatric age group. For example, white-eye in an adult
care. The primary physician caring for children should be is due to senile cataract whereas in a child it may be due to
aware of the technique and art of paediatric basic life support retinoblastoma.
and paediatric advanced life support. The aim of these History taking should be methodical to prevent losing
text articles is to provide basic idea of paediatric surgical important history. After obtaining the history it should
illnesses, their manifestation and diagnosis, and to emphasize be recorded in the record sheet of the patients, which is
on the pre-treatment emergency care and timely referral for important for others to understand and for doctors future
saving life of children. review. Throughout the history taking the parents and child
should be encouraged. The history is obtained and recorded
HISTORY TAKING OF PAEDIATRIC in the following headings.
SURGICAL PATIENTS
History of Present Illness
The advancements in medical technology cannot replace
the information acquired with a proper history taking and In this what problem made the parents to bring the child to
bedside clinical examination. They lead the treating doctor hospital is obtained and recorded in non-medical terms in
to the illness concerned and reduce the gap between time descending order of severity and chronological order. The
of presentation and finalizing the diagnosis by streamlining relevant leading questions can be asked to parents to rule
the investigation and excluding the conditions having similar out the conditions having the same presentation. Enquiry
manifestation. It also avoids unnecessary investigation and should also be made to know the possible aetiology and
helps the proper and economic usage of available manpower also to know how much the parents are aware of their kids
and health resources thus over all reducing the national health problem. From this detailed history itself doctors can come
care cost without compromising the quality of care given. As to conclusion about the possible system affected and the
a student it is mandatory to learn the art of methodical history possible differential diagnosis.
Care of the Paediatric Surgical Patient 187
It is unusual to use sedation or anaesthesia for the added metronidazole for colorectal surgery are mandatory to
examination. The use of medication should be restricted prevent dreaded sub-acute infective endocarditits. Patients
to situations where suspected major injuries require with major organ disease are not candidates for out patients
assessment or surgical repair. If sedation or anaesthesia surgery because it is to prevent an early intervention of
must be used, carefully explain the procedures to the postoperative calamities
child/adolescent and parent or care giver and obtain There is also major issue about the preoperative routine
consent. Express empathy and give assurance to the laboratory investigations in paediatric age group. The
parents, based on scientific evidence. American Society of Anaesthesiologists stated that routine
The typical head to feet examination system may not preoperative investigation is not needed in paediatric age
be feasible in children and hence modification of the group. Decisions regarding the need for routine preoperative
examination system may be needed in some unco- investigation should be based on the individual patients and
operative children. Examine the relevant things first the proposed surgical procedure. This avoids, mechanical
and avoid causing pain during examination. Apart trauma to the child by difficult venipuncture, unnecessary
from examination of the major systems like respiratory investigation causing manpower and economic loss.
system, cardiovascular system, central nervous system
and abdomen, detailed examination about the nutrition Pre-anaesthetic Medication
and development by anthropometry is also needed. Usage of certain medications before the induction and
preceding to surgery makes anaesthesia smooth and avoids
PRE-AND POSTOPERATIVE CARE anxiety and preoperative complications like aspiration
Preoperative assessment is an important evaluation that pneumonitis. Anxiolytics like diazepam, midazolam,
provides wide information about the childs disease ranitidine, analgesics like fentanyl or pethidine and atropine
status, family circumstances and making a good rapport to reduce secretions and prevent bradycardia is suggested
for future follow-up. It also helps the child and parents to in pre-anaesthetic medications. However, in an emergency
get accustomed to the new surgical environment. The pre situation the patient is resuscitated and taken for surgery.
anaesthetic evaluation includes examination of major organ
systems and emphasis on any recent illness like respiratory Preoperative Antibiotics
infection, which is important from anaesthetic point of view. The policy of administration of pre-induction antibiotics
This is evidenced by the observation that operating on a reduces the infection rate to almost nil and avoids unnecessary
child with acute recent respiratory infection will increase the prolonged administration of antibiotics in a clean surgery. In a
adverse events by seven folds during induction of anaesthesia clean case only three doses of antibiotics are recommended. In
and extubation. cases with frank sepsis it is based on severity and culture and
sensitivity. On special occasions a longer course of antibiotics
Associated Medical Problems may be needed, for example, in urological surgeries. Patients
Children undergoing surgical procedures can have with cardiac problems and metallic implants (in joints and
other associated medical illnesses, which need special valves) need prophylactic antibiotics. In children there is no
consideration while undertaking surgery especially in need for prophylactic administration of heparin to prevent
high-risk patients. Patients may be taking medications for deep vein thrombosis, as it is uncommon except in cases
the medical illness. There are some drugs, which have with congenital predisposition like protein S or protein C
to be continued till the morning of the day of surgery for deficiency.
example steroids, thyroxin, antiepileptics, etc. There are
some drugs, which can interact with anaesthetic agents Transportation of Patients
and may need to be changed to safer drugs or discontinued In case of newborns proper maintenance of temperature
if there is no contraindication for stopping the drug. For and safe transport in transport incubator to operation suite
example tricyclic anti-depressants are ideally to be stopped is mandatory to prevent hypothermia and cardio-respiratory
at least two weeks before surgery and aspirin has to be depression. In patients with central venous line or intra-
stopped 6 weeks before. Apart from the medications, there arterial line continuous flushing with heparinised saline is
is also concern in preparing those patients for uneventful essential to prevent blockage of line. In very sick patients
good outcome. In patients with congenital heart disease continuous monitoring with pulse oxymeter, uninterrupted
or valvular heart disease prophylactic antibiotics with respiratory support with battery back-up, emergency
ampicillin and gentamycin in general surgical procedure and resuscitation drugs should accompany.
Care of the Paediatric Surgical Patient 189
extracellular and 35% intracellular. The significance of this serum sodium). Potassium the major intracellular cation,
difference is that in cases of dehydration due to any reason homeostasis is maintained both by renal and extrarenal
because of the large extracellular fluid the loss may not be mechanisms. In kidney the increase in serum potassium
obvious till a late stage by which time the child would have level stimulates aldosterone, which in turn, acts upon
lost significant volume. distal convoluted tubule to reabsorb sodium in exchange
The amount of fluid loss through skin is also more and for potassium thereby excrete potassium to maintain
hence the overall fluid requirement per square meter of body electroneutrality. Extrarenal homeostasis is also maintained
surface area is also more. In newborns, the kidney is not by aldosterone by causing potassium loss in the colon, saliva
fully mature to handle fluid load and there is loss of fluid and sweat. Following three factors enhance the movement of
and sodium. Therefore pathological changes can lead to potassium into the cell. Alkalosis causes an efflux of H+ from
changes that lead to disturbance of homeostasis leading to the cells and in exchange K+ moves intracellularly. Insulin
drastic irreversible changes. A healthy full-term newborn increases K+ uptake by the cells by directly stimulating Na-
loses about 10% of its total body water in its first one week ATPase activity independent of cyclic AMP. Beta agonists
of life because pre-term infants have an increased total body act by stimulating cyclic AMP via adenylate cyclase, which
water content and extracellular compartment. They lose on in turn, activates Na-K+ ATPase pump.
an average of about 15% of their weight after birth in the first Calcium homeostasis is maintained mainly by the
week of life. There is a pre-diuretic phase in the first day of parathormone secreted by the parathyroid gland and
life, followed by diuretic phase in the second to third day and calcitonin secreted mainly by parafollicular C cells of thyroid
then the post-diuretic phase from the fourth day onwards. and some amount by parathyroid gland.
There are also changes in the intracellular solute. The body water deficit can be estimated on the basis of
Potassium is the major intracellular compartment cation the degree of dehydration. The water deficit is calculated
and sodium is the major extracellular cation. Changes in the from the degree of dehydration as 10% of intravascular fluid
is lost in mild dehydration, 25% lost in moderate dehydration
osmolality of extracellular compartment are reflected as net
and up to 50% is lost in severe dehydration.
movement of water in and out of the cells.
Clinical Signs of Dehydration
Regulation of Solute and Fluid
CVS Moderate: Tachycardia collapsed veins,
Starlings law regulates the exchange of fluids between collapsed pulse
the intravascular and extravascular compartment. Under Severe: Decreased BP, cold extremity, distant
physiological conditions the balance between hydrostatic heart sounds
force and oncotic pressure determines the amount of fluid GIT Moderate: Decreased food consumption,
moving across the capillary membrane. Under various Severe: Nausea, vomiting, silent ileus, and
pathological conditions this balance can be disturbed leading distention
to expansion of interstial compartment at the expense of the Tissues Moderate: Wrinkled tongue with longitudinal
circulating intravascular compartment. In health, a balance wrinkling
is struck between intracellular and extracellular osmotic Severe: Atonic muscles, sunken eyes
forces and interstitial and intravascular oncotic forces, which CNS Moderate: Excess sleepiness, apathy, and slow
in turn, govern fluid distribution between the intracellular, response
extracellular and interstitial fluid compartments. The use of Severe: Decreased tendon reflexes.
hypo- and hypertonic electrolyte solutions has major effects Metabolism Moderate: Mild decrease in temperature
on brain cells, which can be detrimental or beneficial. (9796 F)
The sodium and potassium maintenance is important for Severe: Marked decrease in temperature
(9598 F)
critical cell function. They are maintained by kidney, blood
and bone buffers. Hormones like steroids, ADH (ant-diuretic Type and Rate of Administration of
factor, ANP (atrial natriuretic factor) and aldosterone play Intravenous Fluid
dominant role in sodium maintenance. Reduction of serum
level of sodium (hyponatraemia) is mostly due to loss of The type of fluid, rate of administration is decided by
gastrointestinal fluid, diuretics, burns, pancreatitis, adrenal the cause and degree of dehydration. Fluid of choice for
insufficiency, etc. It manifests with lethargy, perioral postoperative maintenance is 0.45% NaCl in 5% Dextrose.
numbness and convulsions. The correction is to be done Fluid of choice for insensible loss is 5% Dextrose. Better
slowly otherwise demyelination of nervous system occurs. Initial fluid in case of resuscitation to be Ringers lactate and
The total deficit is calculated by using the formula-sodium for maintenance be normal saline. In upper gastrointestinal
deficit in mEq/L is 0.6 weight in kilogram (135 - fluid loss, normal saline with addition of potassium after
Care of the Paediatric Surgical Patient 191
passage of urine, normal saline or Ringers lactate for lower BLOOD TRANSFUSION
GI loss and Ringers lactate and plasma for burns loss are
the ideal. Blood loss up to 20% of the blood volume can be Childs blood volume is 80 ml/kg. Therefore 20 ml/kg is a
managed with fluids without replacing the blood loss. The quarter of blood volume. Small amount of blood loss leads
recommended dose of IV fluid to be given is based on weight to shock, e.g. by the time the loss reaches 15 ml/kg, need to
and the degree of dehydration. The maintenance fluid for the replace blood.
first 10 kg weight is 100 ml per kg per day and hence 1,000 In the acute situations give bolus of 20 ml/kg of blood by
ml, if child is 10 kg weight. For weight between 11 kg and syringe until circulation is restored.
20 kg, 1,000 ml and 40 ml per every kg per day over 10 kg, In the elective situation for correction of anaemia packed
thus 1,400 ml for 20 kg weight child. From 20 to 30 kg 20 red cells at 1015 ml/kg over 46 hours.
ml per every kg per day is added to 1,400 ml for children 3 ml/kg of packed red cells raised Hb 1. 10 ml raises
above 30 kg weight add 10 ml per every kg excess of 30 kg 3 and 15 ml raises 5 (Table 9.2).
to 1,600 ml for the 30 kg. The rate of administration is 4 ml
per kg per hour for their first 10 kg, 2 ml per kg per hour Table 9.2: Blood volume according to body weight
for weight between 11 to 20 kg is added to 40 ml per hour Premature baby Term baby Adult
for the first 10 kg and for children over 20 kg add 1 ml per (26 weeks) (40 weeks)
every kg excess of 20 kg to 60 ml per hour. Based on the Body wt. 800 g 3,500 g 60,000 (F)
degree of dehydration the deficit is added to the maintenance 70,000 (M)
fluid. In general shorter and acute the loss, the correction 10% body weight 8% body weight 7% body weight
should also be quick. Fast correction can lead to volume
-Blood vol. -Blood vol. -Blood vol.
overload, cerebral oedema and convulsions. Generally 50%
80 ml 280 ml 4,200 ml
of the total required fluid is given over the first 8 hours and
remaining in next 16 hours. Initial rehydration should be fast
using large bore needle until pulse is well felt. If dehydration Haemoglobin Transfusion Formula
is not improving then IV drip should be more rapid. Periodic Desired Hb Present Hb body weight kg 80 = ml
assessment is essential so as to avoid dehydration as well as whole blood
over hydration. Rehydration should be continued till all the Hct = 50% (packed red cells 50% of whole blood)
signs of dehydration have disappeared.
Energy Requirements for Infants
Signs of Overhydration Basal metabolism 50 cal/kg per day
CVS Increased venous pressure, pulmonary oedema, and Growth 25 cal/kg per day
distention of peripheral veins, bounding pulse, high Energy thermogenesis 45 cal/kg per day
pulse pressure, increased cardiac output. Total = 120 cal/kg per day
Tissues Earliest of all the sign to be weight gain and oedema
of eyelid, subcutaneous pitting, anasarca and basal Acid-Base Status
rales.
pH 7.257.43
It is important to have an idea about the composition of
pCO2 3245 mmHg
IV fluid used in clinical practice (Table 9.1).
pO2 > 50 mmHg
Base deficit/excess Minus 4, plus 3 mmol/L
Table 9.1: Composition of commonly used IV fluids Standard HCO3 1825 mmol/L
pH Na+ Cl K+ Ca2+ Other
components Correction of Acidosis
Ringers 6.5 130 109 4 3 Lactate Body weight (kg) base deficit 0.3 = mmol NaHCO3
lactate 28 mEq/L 8.4% NaHCO3 1 ml = 1 mmol
Normal 4.5 154 154 0 0 -
Saline (NS) Non-respiratory Acidosis
5% 5 Dextrose Body weight (kg) base deficit 0.3 = mmol NaHCO3
Dextrose 50 g/L 8.4% NaHCO3 1 ml = 1 mmol
192 Hutchison's Paediatrics
remodelling, so some angulation of a reduced fracture Table 9.3: Normal physiological parameters
can be accepted. Fractures of the soft springy immature
Age Weight Heart Blood Respiratory Urinary
bones in children are often the classic greenstick fractures. (Kg) rate per pressure breath/min output
Some injuries, such as crush injuries to the epiphysis are min (mmHg) ml/kg/hr
very difficult to diagnose radiologically, yet they can have 06 36 kg 140 6080 4060 2
serious consequences on the future growth and therefore months 160
symmetry of the limbs. Infant 12 140 80 40 1.5
Preschool 16 120 90 30 1
PHYSIOLOGICAL PARAMETERS
Adolescent 35 10050 100 20 0.5
The cardiovascular system in children has an increased
physiological reserve compared to adults and is able to
tolerate significant blood loss without obvious distress,
there may only be subtle signs of severe shock. Hence
early assessment and recognition of shock is essential for
appropriate management of the injured child. Tachycardia
and reduced capillary refill are frequently the only signs
available.
The childs heart has a limited capacity to increase stroke
volume so cardiac output is mostly dependent on heart rate.
With a typical blood volume of 80 ml/kg, an amount of
blood, which would otherwise be considered a minor blood
loss in an adult, could severely compromise a child.
The child initially responds to reductions in intravascular
volume by increased heart rate, and vasoconstriction with a
low pulse pressure.
Shock in a child is difficult to recognise below 25%
volume loss, but may be suggested by a weak thready pulse
and an increased heart rate, lethargy and irritability, and
cool clammy skin. There would be a slight reduction in urine
Fig. 9.1: Showing the injury mark on the inner surface of the cheek of
output, if measured.
a 6-year-old boy bitten by dog
As volume loss approaches 2545% the heart rate remains
raised, but there is a definite reduction in consciousness
and a dulled response to pain. The skin becomes cyanotic, APPROACH TO THE INJURED CHILD
with reduced capillary refill time (CRT) and the extremities A proper history should be taken from the parents or the
become cold. If measured, there would be minimal urine guardian regarding the mode of injury and the duration
output. elapsed between the time of injury and the time the patient
Finally above 45% volume loss the child can no longer is being examined. The mode of injury may vary from a dog
compensate and there is a point at which the child becomes bite (Fig. 9.1) to a fall from height (Figs 9.2A and B).
hypotensive and bradycardiac, and the child is comatose. The approach is to be found in greater detail in the
The normal physiological parameters of a child are given manuals of the Advanced Trauma and Life Support,
in Table 9.3. Paediatric Advanced Life Support and Advanced Paediatric
As an approximate, guide systolic BP = 80 mm Hg + Life Support. The ATLS approach to paediatric trauma is
Age (years) 2 given in the Table 9.4.
A B
Figs 9.2A and B: A case of perineal trauma in a girl child: (A) Before repair showing the injury through the pubic symphysis up to behind the
rectum; (B) After repair with urinary catheter in situ
CRT more than 2 seconds, skin mottling, and low the aim of emergency treatment is directed at preventing
peripheral temperature are signs of shock. secondary brain injury, and referring early to a neurosurgical
When shock is suspected 20 ml/kg of warmed crystalloid unit for definitive treatment.
solution is used. Failure to improve suggests either ongoing
haemorrhage or gross fluid depletion. This 20 ml/kg Primary and Secondary Brain Injury
represents 25% of blood volume, but as this volume becomes Neurosurgical referral is indicated if there is a deteriorating
distributed into other body fluid compartments up to three conscious level or coma score less than 12, focal neurological
boluses of 20 ml/kg may be necessary to achieve 25% blood signs, depressed skull fracture or penetrating injury, or basal
volume replacement. If a third bolus is being considered then skull fracture. Definitive treatment is directed at the cause of
blood replacement should be considered. the raised intracranial pressure or injury. This may involve
Disability is assessed by pupil size, reactivity and the evacuation of haematoma or elevation of depressed
conscious level as alert, responsive to voice, responsive to fracture in addition to other intensive care measures.
pain and unresponsive. Any child with a Glasgow Coma Scale (GCS) of 8 or
All surfaces of the child need to be inspected during the less should be intubated and ventilated with rapid sequence
course of the primary survey, but this can be done region by anaesthesia.
region to avoid distress and heat loss. If the conscious level deteriorates rapidly despite all
other supportive measures, then urgent referral is indicated
Secondary Survey and measures intended to increase cerebral perfusion in the
The secondary survey is a head to toe assessment, including short term are used. These include the use of:
IV mannitol 0.5 to 1 g/kg
reassessment of vital signs.
Hyperventilation to a PaCO2 of 3.54.0 kPa
A complete neurological exam including the GCS should
20o head up position to promote venous drainage
be carried out.
Plasma expanders to avoid cerebral hypotension.
A brief medical history needs to be recorded.
A focal seizure is considered as a focal neurological sign.
Standard trauma blood investigations are taken during IV
Generalised fits are of less concern but should be
access and primary survey. controlled if they have not stopped within 5 minutes. IV
Radiological investigations are required as an adjunct. diazepam is preferred.
Blood tests: Baseline In many cases the head injury is limited to minor scalp
Full blood count, electrolytes, glucose, amylase haematoma, limited vomiting with normal neurology. If the
Blood for group and save or Urgent cross match head injury appears stable, a period of close observation for
Arterial blood gases 24 hours is appropriate.
X-ray trauma seriesChest, C-spine, Pelvis The assessment of head injuries in children depends on
Additional investigations are taken when the patient is the age of the child, their ability to describe the mechanism
stabilised. of injury, and the history obtained from reliable witnesses.
Potentially serious injuries are suggested by significant
EMERGENCY TREATMENT energy transfer, e.g. road traffic accident (RTA) or fall
from height more than 2 m, loss of consciousness (LOC),
Emergency treatment is that required to stabilise the child
an altered state of consciousness, obvious neurology,
prior to transfer to an appropriate referral centre, theatre for
or penetrating injury. The conscious level should be
operative treatment or the ward for conservative expectant
documented using the appropriate scale for the age of the
observation.
child and the time noted.
Head Trauma Thoracic Trauma
Head injury is the most common reason for hospital admission Children have elastic ribs and significant amounts of energy
in children, and the most common cause of death in children can be absorbed by the thoracic region without obvious
after the age of 1 year. Fortunately many injuries are trivial external signs of injury. An apparently normal chest
and their admission to hospital is mainly to reassure parents radiograph cannot exclude significant thoracic injury.
and cover the hospital. The presence of rib fractures therefore suggests a very
The standard trauma and resuscitation approach is used significant transfer of energy and other associated organ
in the assessment and early treatment of these patients and injuries should be suspected.
196 Hutchison's Paediatrics
The provision of high flow oxygen via a reservoir mask early involvement of the anaesthetist is advised. Treatment
allows FiO2 of greater than 60% to be achieved and should should consist of endotracheal intubation and ventilation.
be used routinely in chest trauma.
Chest injuries which can occur include those which can Cardiac Tamponade
be immediately life-threatening and those which become Injury, which causes bleeding into the pericardial sac,
apparent later. reduces the volume available for cardiac filling. As the
pericardial sac fills with more blood the cardiac output is
Tension Pneumothorax
reduced. Shock develops, the heart sounds become muffled
Air is drawn into the pleural space compressing the and the neck veins may become distended. Treatment is
mediastinum and compromising venous return to the heart. pericardiocentesis, which may need to be repeated.
Cardiac output reduces, so that the child becomes hypoxic
and shocked, and the jugular veins become distended. Abdominal Trauma
There will be hyper-resonance and reduced air entry
The abdomen is more exposed in children than in adults.
on the lung field on the side of the pneumothorax. As the
The soft elastic rib cage offers less protection to the liver
mediastinum is pushed to the opposite side the trachea is said
kidneys and spleen. The pelvis is shallow and the bladder
to deviate away from the side of the pneumothorax.
is intra-abdominal in the younger child. The most common
Treatment should be immediate, needle thoracocentesis
organs to be damaged following blunt trauma are in order,
in the 2nd intercostals space mid clavicular line, relieving the
spleen, liver, kidney, gastrointestinal tract, genitourinary
tension and converting the injury into a simple pneumothorax.
tract and pancreas. Penetrating trauma most commonly
Definitive treatment is the insertion of a chest drain.
affects the gastrointestinal tract, liver, kidneys and blood
Major Haemothorax vessels. The significant morbidity and mortality following
splenectomy has led to a more conservative approach to
Bleeding into the pleural space from damage to the lung
possible splenic trauma. Experience has shown that the
vessels or chest wall can be a source of a large volume of
majority of abdominal injuries can be treated conservatively
blood loss, in addition to the reduction in lung volume, shock
provided they receive close observation, repeated assessment
and hypoxia may be evident if significant blood volume has
been lost. There will be reduced chest movement, reduced and monitoring. Attention should be paid to vital signs, fluid
air entry and reduced resonance to percussion on the side of balance and blood factors. A paediatric surgeon should be
haemothorax. available during this period if required.
Treatment requires volume replacement and the insertion Operative intervention is required in:
of a large bore chest drain. Haemodynamically unstability after the replacement of
40 ml/kg of fluid
Open Pneumothorax Penetrating abdominal injury
The presence of penetrating wounds to the upper body, A non-functioning kidney is demonstrated on contrast
between umbilicus and root of the neck must alert one about study (remembering the warm ischaemic time for the
the possibility of an open pneumothorax. kidney is a maximum of 60 minutes)
There will be reduced chest movement, reduced breath Signs of bowel perforation.
sounds and hyper-resonance on the side of the pneumothorax. The abdomen is only considered in the primary survey
Air may be heard to suck and blow through the wound. under C circulation if shock does not respond to volume
Treatment requires the creation of a flap valve using an replacement, if no other obvious site of haemorrhage can
airtight dressing secured on three of four sides, to allow air be found. In children, a nasogastric/orogastric tube should
out but not in, preventing a tension pneumothorax developing passed as air swallowing occurs during crying and can
and converting the injury into a simple pneumothorax. A cause significant gastric distension. Gastric distension can
chest drain is required, followed by surgical exploration, cause splinting of the diaphragm making breathing and/or
debridement and repair. ventilation difficult.
During the secondary survey the abdomen is inspected
Flail Segment for bruising, laceration, penetration. The external genitalia
In the child a flail chest is a very significant injury due to must also be examined and the external urethral meatus
the amount of energy required to create it and the degree inspected for blood. If blood is seen this is an indication for
of underlying lung injury. Abnormal chest movement may retrograde urography and passage of urethral catheter must
be seen over the flail segment and crepitus may be felt. The not be attempted by anyone other than a consultant urologist.
Care of the Paediatric Surgical Patient 197
Rectal examination on children is carried out only if it is Table 9.6: Revised trauma score
considered appropriate by the paediatric surgeon who would This is a physiological scoring system consisting of a weighted
be operating. combination of Glasgow Coma Scale, Systolic blood pressure and
respiratory rate.
CHILD ABUSE Glasgow Systolic blood Respiratory Coded
coma pressure rate score
Child abuse can take many forms, physical, sexual, scale score
emotional, or neglect. It is important to have a high index 1315 > 89 1029 4
of suspicion of the possibility of abuse and be aware of the 912 7689 > 29 3
patterns of presentation, explanations and injury seen. 68 5075 69 2
Factors which should alert the doctor to the possibility
45 149 15 1
of non-accidental injury (NAI) include, odd times of
3 0 0 0
presentation for treatment, delayed presentation, presenting
without the prime carer, inconsistent and imprecise times RTS = 0.94 GCS + 0.73 Systolic BP + 0.29 Respiratory Rate
The RTS can be in a range between 0 and 7.84.
and accounts of the mechanism of injury. The injury may not When RTS is plotted against survival a sigmoid-shaped curve is
be compatible with the mechanism of injury, or the parents produced.
attitude or focus of concern does not seem right. Perhaps
the childs interaction with the adult is abnormal, or their
BURNS
behaviour seems inhibited or withdrawn.
Injuries seen in NAI include head injuries, including Burns are the most devastating type of trauma that the human
occipital fractures and intracranial injury. Fractures of long beings suffer. The post-burn scars leave behind indelible
bones and particularly multiple fractures at different stages blemishes, and the victims may suffer till the end of their
of healing may be seen. Bruising and finger marks in a hand lives. The incidence of burn injuries is increasing and today
print distribution, burns, scalds, cigarette burns, belt, bite children suffer from burns more and mortality is also high.
marks should all be carefully examined. Significant morbidity in terms of burn complications, such as
Sexual abuse may present as frank injury, genital functional, cosmetic, social and psychological impairment is
infection, or may present with odd inappropriate behavioral also seen. Children are at high risk because of their natural
or other emotional problems. curiosity, their mode of reaction, their impulsiveness and
Assessment of any child with suspected child abuse needs lack of experience in calculating the risk of the situation.
great care and sympathy, and the involvement of seniors at
Epidemiology
the earliest point of concern.
Children unfortunately are the innocent victims of
Trauma Scores circumstances that result in major fire accidents. Superficial
flame burns rate the highest amongst the aetiological factors.
Trauma scores are used as a predictor of survival and for Scalds due to hot liquids in the domestic setup rank next in the
comparative purposes and are given in the Tables 9.5 and aetiology. More serious types of scalding occur when older
9.6. children 24 years fall into the hot water or hot milk kept on
the floor for cooling under the fan (Fig. 9.3). Neonates suffer
Table 9.5: Paediatric trauma score burns due to hot water bottles, which are used as warmers.
Coded value Electrical burns are very common in the domestic setup,
when children place their fingers into open plug socket and
Patient factors +2 +1 1
suffer low voltage burns. Playing near dish antenna on the
Weight (kg) > 20 1020 < 10 top of multistoried buildings could result in serious high
Airway Normal Maintained Not maintained voltage electrical burns in the upper limbs. Contacts with live
Systolic BP > 90 5090 < 50 wires are a common type of electrical burn when children
CNS Awake Obtunded Coma
play and try to retrieve kites. These could result in major
burn injuries with wound of entry and wound of exit.
Open wound None Minor Major
Acid burns are not very common in children, but corrosive
Skeletal None Closed Open/Multiple oesophageal injury occurs due to accidental ingestion of
trauma acid, which is kept in kitchen closets for cleaning purposes.
198 Hutchison's Paediatrics
Pathophysiology of Burns
Problems in the paediatric burns are mainly due to
physiological immaturity; this is especially true in infants.
The temperature regulating mechanism is labile as the ratio
of surface area of the body to weight is more. Rapid shifts
in the core temperature occur. Deep burns occur rather
rapidly due to the thin skin of the infant that has scant dermal
appendages, which are close to the surface, permitting the
burn to penetrate into the depths easily. Children are also
more susceptible to fluid overload and dehydration. Infants
require higher energy and their peripheral circulation is
labile. Their metabolic demands are also on the higher side.
With all these special problems, the children with burns
present a special management issue.
Burn shock is consequent to the massive fluid shifts
that occur soon after burn injury. Direct thermal injury
results in changes in the microcirculation and capillary
permeability increases. Multiple inflammatory mediators
are also secreted which increase the vascular permeability
throughout the capillary vascular bed all over the body.
This results in the leak of intravascular fluid into the
Fig. 9.3: The healing wound of a baby who was affected by third-
extra-vascular spaces resulting in burn oedema, which is degree burns
maximum at the end of 12 hours post-burn in minor burns
and lasts till 24 hours in major burns. Hypovolaemia occurs First-Degree Burn (Superficial)
due to the fluid shifts at the expense of circulating blood and
plasma. This results in burn shock with reduced cardiac Only the superficial epithelium is involved. There is always
output, increased heart rate, increased pulse rate, oliguria, varying degree of erythema and regardless of the type of
therapy used, this type of burn heals without scar formation.
acidosis and air hunger. The inflammatory mediators that
For about 610 hours, burn is painful and then gradually it
are responsible are Bradykinin, Histamine, Prostaglandins,
becomes less painful. Sunburns and flame burns are generally
Leukotrienes and hormones. Products of platelet degradation
of this type.
and interleukin-1 (IL-1), and IL-6 also act as mediators of
burn shock. Second-Degree Burn (Partial Thickness)
In burnt patients the levels of sodium adenosine
triphoshphate are reduced in the tissues, which alters the cell Here the entire epidermis and a variable depth of dermis are
transmembrane potential and the concentration of sodium involved. These are commonly seen due to splashes of hot
increases in the extravascular compartment. This also liquids, flash burns, longer contact with flames and limited
contributes to burn oedema. exposure to chemicals. Depending upon the extent of dermal
involvement it is further divided into superficial and deep
Classification of Burns partial thickness burn.
The superficial type is painful and has blisters. Since sweat
Classification of burns can be done according to the agent glands and hair follicles are spared the healing is satisfactory
inducing the injury and according to depth and extent of the and scarring does not occur. These heal in 23 weeks time
total body surface area (TBSA) involved.
and are painful during healing phase due to regeneration of
nerve fibres.
Depth
The deeper variety is not very painful and is generally
A clear understanding of the depth and structure of the skin without blisters, but since the reticular layer of the dermis is
is needed to understand the grades of burn. involved these usually do not heal spontaneously, and when
Care of the Paediatric Surgical Patient 199
it heals after several weeks, it does so with hypertrophic matrix formation, remodelling and epithelialisation to the
scarring. The appearance will be almost like third-degree formation of a scar.
burn. A sterile pin-prick test with a hypodermic needle can
be very valuable in assessing the depth of the burn. Epithelialisation
In a regular wound, epithelialisation begins within hours
Third-Degree Burn (Full Thickness) after injury. In superficial and superficial partial thickness
Here the entire thickness of the skin and adnexae are burns epithelialisation occurs spontaneously from the dermal
involved. The burn is not very painful and is parchment like remnants of hair follicle and sebaceous glands. In deep partial
in appearance. These do not heal spontaneously and have thickness burns the epidermal cells undergo phenotypic
to be excised and grafted. When the third-degree burn is alteration at the margins of the normal skin and loose their
extensive, it gives rise to a systemic response, which may adherence to one another and to the basement membrane,
result in shock. If it is allowed to heal by itself, it may result which allows for the lateral movement of epidermal cells.
in crippling contractures. These are seen due to prolonged The migrating epidermal cells dissect the wound space
contact with any of the agents causing second-degree burns separating the eschar from viable tissue guided by an array
as seen above. of integrins, which the migrating cells express on their cell
membrane. One or two days after injury the epidermal cells
Fourth-Degree Burn at the wound margin begin to proliferate behind the actively
Involvement of tissues and structures beneath the skin, such migrating cells. The stimulus for proliferation and migration
as muscles and bones signifies a fourth-degree burn. These of epidermal cells is epidermal growth factor. If the area
are obviously insensate and a charred appearance is seen. of the burn is large, re-epithelialisation may not completely
Classically seen due to molten metal, high voltage electrical cover the raw wound and split skin grafting may be necessary
burns and prolonged contact with flames. to hasten the wound healing. In smaller burn areas, within
1012 days, epithelialisation is complete and the burn wound
Extent of Burn gets closed.
TBSA burnt should be quantified early in assessment; it is the
single most important factor for management and prognosis. Pathophysiology of Burn Shock
There are various methods to calculate it: A clear understanding is necessary to plan the treatment in
Rule of nines: According to this algorithm head and neck paediatric burns and to organise the resuscitation schedule.
comprise 9% of BSA, front and back of trunk20% Burns shock is the result of vascular changes that take
each, each arm9%, front and back of leg9% each place immediately after burns. Direct thermal injury results
and the remaining 1% is made up by the genitalia. This in changes in the microcirculation and capillary permeability.
rule is quite reliable in patients who are greater than 15 The latter increases and alterations in the transcell membrane
years old but is not suitable for use in children. potential occur. These occur due to certain mediators
According to palm hands: A rough estimate of the BSA like Bradykinin and Histamine. This increased capillary
burnt can be made by the number of palm hands of the permeability results in massive fluid shifts from the
patient required to cover the area. Palm surface area intravascular to extravascular compartment. The total body
roughly equals 1% across all age groups. fluid volume may remain unchanged, but the volume of each
compartment gets altered. For normal maintenance of ionic
Burn Wound Healing gradient across the cell membrane, adequate levels of Na-
Skin is the largest organ in the body, with multi-structural adenosine Triphosphatase are required. In burns the level of
and multi-functional components with regional variations. Na-ATPase decreases and consequently sodium concentration
The ischaemic, hypoxic and edematous burn wound takes in the cells increases and intracellular oncotic pressure
a very slow course for healing compared to a traumatic increases. This results in massive oedema in the burnt tissue,
wound. Unique characteristics of burn wound healing hypovolaemia and oliguria, which are the components of
requires a thorough understanding of normal wound healing shock. Intracellular and interstitial volume increases at the
which is a very complex and dynamic process consisting expenses of plasma and blood volume. Other mediators,
of many co-ordinated cellular, biochemical molecular which have been identified in this process, are products of
processes. The wound healing goes through phases of platelet degradation, prostaglandins, leukotrienes, IL-1, IL-6
angiogenesis, granulation tissue formation, processes of and TNF-. The formation of oedema is maximum by the
200 Hutchison's Paediatrics
end of 12 hours post-burn in minor burns and lasts till 24 and respiratory care protocol established. The final point to
hours in major burns. be remembered is the fact that the burn patient could also
be a victim of associated trauma, hence decreased levels of
Immunological Response to Burn Injury consciousness or oxygen desaturation should not be blamed
Today it has been realised that in massively burnt patients only on burn shock or inhalation injury, but could be due to
(> 40% TBSA) chaotic cytokine array is responsible for associated head injury.
higher mortality rate and not infection as was thought
Circulation and Intravenous Access
earlier. The appropriate term for the immunological failure
that is seen is systemic inflammatory response. As soon as It is important to start two intravenous portals, one for
burn injury occurs, macrophage margination and activation infusing fluids and the other for giving drugs through the
occurs. This results in the release of three cytokines IL-1, unburnt skin. Central line though ideal, may invite sepsis
IL-6 and TNF-. Macrophages also produce products of and could be disastrous and hence should be inserted only if
lipid peroxidation namely leukotrienes and prostaglandins. required urgently. If the child has already gone into shock
All these are very toxic to the patient and these produce T with falling blood pressure, then a central line must be
cell failure, inhibit lymphocytes, haemoglobin synthesis and started. Adequate fluid resuscitation should be started and a
also depress the granulocyte colony formation. Foleys catheter should be placed. A nasogastric tube should
Skin is recognised as the largest immune organ and be placed to drain the stomach.
the effect of heat could well figure in the origin of the
pathophysiology encountered. The area of skin burnt Eliciting History for Medicolegal Purpose
quantitatively is related to mortality and cellular functional To ensure proper epidemiological documentation and also
failure. This immune failure could be the cause of death in for medicolegal records, a detailed history should be elicited
children during the shock phase, rather than infection. from the conscious patient and in the case of children from
the parents. This would enable implementation of preventive
EMERGENCY ROOM MANAGEMENT programme.
The initial management of the severely burned patient follows
the guidelines established by the Advanced Life Support Recording of the Weight of the Patient
course of the American College of Surgeons according to Recording of the weight of the burnt child is important for
which, like any other trauma, airway and breathing assume calculating and administering fluids and drugs. Ideally weight
the highest priority. is recorded as soon as possible at the emergency room.
procedure involves an incision through the burn eschar to regimen, the reversal from shock is phenomenal. Either
relieve the constriction caused by it. This procedure can be fresh frozen plasma 0.51 ml/kg TBSA or 5% albumin can
done at the bedside with an electrocautery with the patient be given.
under sedation, as the eschar is insensate. A rapid restoration
of the circulation suggests a successful procedure; if the Place of Whole Blood
blood flow is still not restored then a consideration should In extensive third-degree electric burns or in third-degree burn
be given to fasciotomy, i.e. incision of the deep fascia to over 50% TBSA, actual entrapment of RBCs and cell death
alleviate the compartment syndrome. results in severe hypoxia. This situation can be reversed by
whole blood transfusion and preferably fresh blood improves
Fluid Resuscitation in Paediatric Burns the situation better. Fresh whole blood transfusion is usually
It is important to bear in mind that a burnt child continues given. This can be combined with crystalloids.
to be a special challenge, since resuscitation therapy must
be more precise than that for an adult with a similar burn. Urine Output Monitoring
Important point to bear in mind is the fact that a burnt child Measured volume bags are preferably used. Child should
requires intravenous resuscitation for a relatively smaller void 1 ml/kg per hour of urine if resuscitation is adequate.
TBSA (1020%) unlike an adult. Primary goal of resuscitation Diuretics are generally not indicated during acute
is to support the child throughout the initial 2448 hours resuscitation period. But in children sustaining high voltage
period of hypovolaemia that sets in due to extravascular fluid electrical burns with myoglobinuria/haemoglobinuria, there
sequestration during post-burn shock period. is increased risk of renal tubular obstruction. Forced alkaline
diuresis is indicated in such situations with urine output as
Calculation of the Requirements high as 35 ml/kg per hour. To alkalinise the urine, sodium
Cope and Moore in 1947 gave the first rational scheme of bicarbonate is added, while an osmotic diuretic like mannitol
fluid resuscitation in burn patients. Though their formula is achieves a high urine output.
no longer in use all the modern formulas derive their basic
scheme from their formula, i.e. requirements are calculated Problems in Resuscitation
according to the extent of the burn and the weight of the It is important to identify acidosis. Electrolyte estimation must
patient, initially for the first 24 hours. Half of this amount is be done periodically and acidosis must be corrected without
given in the initial 8 hours and the rest over next 16 hours. delay. There is a risk of hyponatraemia and hyperkalaemia
Though for adults Parklands formula is the one that is early on.
in most common use, the only formula for calculation in Thermal injury results not only in massive fluid shifts
paediatric burn patients is the one devised by Shriners Burn that cause hypovolaemia, but also in release of inflammatory
Hospital. According to this formula: mediators from burn wounds. These mediators deleteriously
For first 24 hours: Total fluid requirement is 5,000 affect cardiovascular function and lead to burn shock.
ml/m2 TBSA burn + 2,000 ml/m2 as maintenance, 50% The end result of a complex chain of events is decreased
of this volume is given in initial 8 hours and the rest in intravascular volume, increased systemic vascular resistance,
ensuing 16 hours. Ringers lactate is the fluid used for decreased cardiac output, end organ ischaemic and metabolic
resuscitation. acidosis. Without early and full resuscitation therapy these
Thereafter: 3,750 ml/m2 + 1,500 ml/m2 is used for next derangements progress to acute renal failure, cardiovascular
24 hours; a part of total of it may be made up by the collapse and death.
enteral feeds. Urine output of more than 1 ml/kg per hour Resuscitation in itself is not without complications.
and stable vitals signify an adequate replacement. Burn oedema is worsened with resuscitation, particularly
crystalloid solutions. The above given formulae are
Place of Colloid generalisations only; each child should get individualised
There is a controversy regarding the use of colloids in the treatment to avoid complications.
initial resuscitation scheme. It is known that the plasma
proteins are extremely important in the circulation since Infection Control
they generate the inward oncotic force that counteracts the Infection is the most common complication seen in the burn
outward capillary hydrostatic force. But protein solutions are patients. Initially gram-positive organisms are the ones that
not given in the initial 16 hours, as they also leak through the cause sepsis but as early as 3 days post-burn gram-negative
dilated capillaries, and are no more effective than more salt organisms start predominating. Systemic antibiotics are not
water. After 16 hours, if colloids are added to the crystalloid recommended in burn patients for prevention of burn wound
202 Hutchison's Paediatrics
sepsis, as the burn tissue is a poorly perfused tissue. Also Removal of source of inflammatory mediators
this practice leads to the emergence of resistant strains. They Decreased scarring and more functional rehabilitation
are certainly recommended in special circumstances such as: Decreased stay in hospital
Perioperatively: Around the time of burn wound excision Early excision (< 48 hours) is associated with less blood
to limit the incidence of bacteraemia. They should be loss.
guided by the quantitative burn wound cultures. Two types of burn wound excisions are described:
Autografting: At the time of autografting to prevent 1. Tangential excision: Implies sequential excision of burnt
local loss of the graft and also to prevent infection at the skin layers to reach the viable tissue layer. It is more time
donor site. A first generation oral cephalosporin is good consuming and is associated with more blood loss and
enough till the first dressing change if the cultures are not requires a certain experience.
available. 2. Fascial excision: This involves removal of all tissue down
Infection elsewhere: In the presence of infection to the level of deep fascia. This procedure is technically
elsewhere, such as pneumonitis, thrombophlebitis,
easier and is associated with comparatively less blood
urinary tract infection and sepsis, systemic antibiotics are
obviously indicated. loss. As this procedure is cosmetically disfiguring it
Topical therapy is all that is required for most of the should be used in only compelling situations, such as life-
burn wounds. Appropriate topical therapy reduces microbial threatening burn wound sepsis.
growth and chances of invasive sepsis. It should be soothing Blood loss during surgery can be controlled by use of
in nature, easy to apply and remove and should not have tourniquets, elevating the limb and local application of
systemic toxicity. Such an ideal anti-microbial probably does thrombin solution or epinephrine soaked pads.
not exist. Wound Coverage
DRESSINGS: Option of closed dressing and open dressing After burn wound excision, the tissue bed consists of dermis
methods are available. In open method, topical anti- and the subcutaneous fat. It is necessary to cover this raw
microbials are applied and the wound is left open to warm area to promote healing and to provide for better cosmetic
dry air. Pseudomonas infections are rare but this method and functional outcome.
requires a strict environmental control and is painful. The Autograft: Ideal coverage is the patients own skin. It is
fluid requirements also increase due to greater evaporative
generally possible to get enough split skin autograft in
losses. This method is useful for facial and scalp burns. In
closed dressings topical anti-microbial creams are applied
less than 40% TBSA burns. Meshing allows more area to
and then covered with gauze dressings. This method is less be covered and also allows for seepage of the exudates in
painful though more labour intensive. Closed dressings are the postoperative period. Maximum meshing allowed is
preferred for the extremities and over the back. 4:1. More meshing ultimately leads to more scarring; for
this reason the grafts to be used on face and joints should
SURGICAL MANAGEMENT OF THE BURN WOUND preferably not be meshed.
Autograft with allograft overlay: If the autograft is
A proper assessment of the burn wound guides the choice of inadequate, a 4:1 or even 6:1 meshed autograft is used
the surgical therapy. and over it 2:1 meshed allograft is placed. Allograft
First-degree burn: As there is minimal loss of the barrier falls away as the autograft epithelialises underneath. In
function of the skin, the infection and fluid loss are not massively burnt patients, rejection is not a major issue as
common. Management aims at providing pain relief and there is profound immunosuppression. It is mandatory to
optimal conditions for wound healing. Topical salves and screen the donor for HIV, CMV, HBV and HCV before
oral analgesics are the only medications required. using these grafts.
Superficial second-degree burns: These require daily Allograft: Allograft can be used for temporary coverage
dressings with topical anti-microbials till spontaneous of the wound till the donor sites heal and further grafts
re-epithelialisation occurs in 1021 days. Alternatively, can be taken from them. Such situations can arise in
temporary biological or synthetic dressings can be massively burnt patients (> 40% TBSA).
used. Xenograft: Porcine skin is readily available and it
Deep second-degree and third-degree burns: Early burn resembles human skin morphologically. It adheres well
wound excision has been shown to be beneficial in these to the dermis and then is gradually degraded; the main
types of burns. drawback is its inability to prevent infection.
Advantages are: Amniotic membrane: Amniotic membrane can provide
Decreased rates of infection as dead and devitalised tissue an excellent temporary biological coverage till more
is removed autograft is available. It is freely available, is non-
Care of the Paediatric Surgical Patient 203
antigenic and has some infection resisting properties. pethidine can make dressing changes less distressful for
Cord blood sample should be tested for HIV, CMV, these sick children.
HBV and HCV prior to its use.
Synthetic dressings: Various biologically engineered Nutrition
membranes, such as keratinocyte sheets, silicon mesh Early establishment of enteral feeds as soon as the child is
with porcine or human collagen and silicon mesh with stabilised via a nasogastric tube decreases the metabolic rate,
foetal keratinocytes are available in the west but their gastric atrophy, stress ulceration and bacterial translocation.
cost and availability still precludes common clinical use. Parenteral nutrition leads to more chances of systemic sepsis,
Reasons for the non take-up of grafts: thus enteral route with all its advantages is preferred. An
Fluid collections underneath the graftsmeticulous adequate calorie intake provided as 4070% carbohydrates,
haemostasis, meshing and good pressure dressings help 1020% fats and 2040% protein should be the goal. Calorie
prevent this complication requirement is calculated according to the Shriners Burn
Shearing stress on the grafted surfacescan be prevented Institute formulas.
by proper immobilisation and splinting Infant formula: 1,800 kcal/m2 maintenance + 1,000
Infectiongood perioperative antibiotic cover based on kcal/m2 area burnt
cultures should be used For 111 years: 1,800 kcal/m2 maintenance + 1,300
Residual necrotic tissue in the bedadequate excision kcal/m2 area burnt
takes care of this aspect. More than 12 years: 1,500 kcal/m2 maintenance + 1,500
Proper care of the donor sites to allow for reuse cannot kcal/m2 area burnt.
be overemphasised, as every inch of the skin is precious.
Donor area if not properly cared for behaves in the same way COMPLICATIONS AND REHABILITATION
as a second-degree burn. Apart from the myriad acute metabolic and systemic
complications the burn patient might experience, the
Hypermetabolic Response and Nutrition following complications, which deserve a special mention.
Burn wound sepsis: Burn wound sepsis is indicated
Hypermetabolic Response by change of the colour to black or dark brown,
Burns more than 40% TBSA cause a tremendous increase in haemorrhage of the subeschar fat, progression of the
the resting energy expenditure amounting to even 50100%. partial thickness injury to full thickness, dirty foul
The following factors contribute: smelling exudates, premature separation of eschar or
Increased release of IL1, IL2, TNF-, thromboxane. appearance of eruptions. Treatment involves change of
Increased release of stress hormones, such as topical antibiotics, systemic antibiotics and excision of
catecholamines, glucagon and cortisol. the burn wound.
All these promote systemic vasoconstriction and may lead Pulmonary complications: Inhalation injury as such and
other conditions like profound immunosuppression,
to renal and mesenteric ischaemia. This hypermetabolic
systemic sepsis and ventilation predispose the burnt patient
response can be modified to improve the outcome:
to pneumonia. Management includes judicious use of
Ambient temperature should be kept between 28C and
antibiotics, aggressive physiotherapy and respiratory care.
30C
Gastrointestinal complications: Hypokalaemia in
Early enteral nutrition in the post-burn period reduces
the acute phase, sepsis, hypovolaemia all contribute
the incidences of bacterial translocation and counters the towards ileus in the post-burn period. Management
catabolic state includes nasogastric suction and correction of underlying
Beta-blockers can block the deleterious effects of aetiology. Gastric ulceration and bleedingcurlings
catecholamines to decrease the heart rate and the cardiac ulcers are also common due to impaired perfusion and the
output stress response. Antacids are no longer recommended for
Growth hormone has also been shown to help in catch- prevention as these increase gastric pH and colonisation
up growth by fostering a positive nitrogen balance. It of the stomach. Sucralfate and early enteral feeds are the
also improves immunity and helps in faster healing at the strategies that are most helpful.
donor sites Orthopaedic complications: Osteomyelitis, non-healing
Adequate pain relief also helps in decreasing the stress fractures, ulcers and heterotrophic calcification are also
response. Specially during dressing changes intravenous common.
204 Hutchison's Paediatrics
C H A P T E R
Neonatal Surgery 10
CONGENITAL DIAPHRAGMATIC HERNIA Associated Anomalies
It is a congenital defect in the diaphragm usually posterolateral Cardiac anomalies may contribute to right to left shunt,
in location through the foramen of Bochdalek through which pulmonary hypertension and circulatory instability in CDH.
intra-abdominal contents protrude into the thorax and may Hypoplastic heart and atrial septal defect are most common.
cause respiratory compromise. Even in the absence of anatomic defects, left ventricular mass
The earlier the baby presents, the worse is the prognosis. is decreased in patients with CDH. There is a significant
reduction in post-ductal PO2 in patients with CHD so a low
Embryology post-ductal PO2 should prompt a search for hidden cardiac
The defect in congenital diaphragmatic hernia (CDH) results defects.
from failure of closure of pleuroperitoneal canal at the
end of embryonic period. Pulmonary hypoplasia is central Treatment Options
to the pathophysiology of CDH. Structural abnormalities Though the mainstay of treatment is surgery, yet the
of pulmonary vasculature can result in acute pulmonary prognosis depends upon the preoperative stabilisation and
vasoconstriction. Failure of transition from the fetal to degree of hypoplasia of the lung. Thus, many therapies have
newborn circulation results in pulmonary hypertension. been explored to improve the survival.
Prognostic Factors surgery has not in itself increased the survival rates but has
helped in selecting survivors from non-survivors.
Gestational Age at Diagnosis Transabdominal route is used because: (1) easier
Bulk of data suggests early prenatal diagnosis as a poor reduction of viscera through abdominal route, (2) accurate
prognostic indicator. If age at diagnosis is less than 24 visualisation of abdominal viscera and correction of any
weeks, prognosis is uniformly bad. associated intestinal anomaly is possible, (3) accurate
visualisation and repair of defect possible and (4) can enlarge
Fetal Cardiac Ventricular Disproportion the abdomen by manual stretching and construction of a silo
There is now abundant evidence that in addition to pulmonary is possible. In case of a right-sided defect with only liver
hypoplasia there is also cardiac hypoplasia. The pathogenesis herniating, a thoracotomy approach could be used.
is postulated to be either direct effect of compression or a
secondary effect of altered haemodynamics. Aortic to OESOPHAGEAL ATRESIA
pulmonary artery ratio is also predictive with a significantly The incidence varies from 1 in 3,000 to 1 in 4,500. The
larger ratio in survivors. improved survival of these neonates reflects the advancement
in neonatal care and anaesthesia over the years. The first
Lung to Head Circumference Ratio successful primary repair is credited to Cameron Haight in
Metkus et al. reported that the single most predictive factor 1941.
was the right lung area to head circumference ratio. Survival
was 100% when this ratio exceeded 1.5 and 0% when it was Embryology
less than 0.6. The embryology of EA and TEF have been explained
with the new adriamycin model. Recent studies-by-Kluth
Liver Herniation suggest that the larynx begins to develop and the trachea
The presence of left lobe of liver is a poor prognostic and oesophagus simply grow and elongate side by side
marker. If herniation is present survival is less than 60%. after the tracheobronchial diverticulum appears. Defects
So the patients diagnosed before 24 weeks of gestation, with or failure in the mesenchyme separating the two structures
massive mediastinal shift, when associated with ventricular or an aberrant position of either component, may explain
disproportion and liver herniation, have dismal prognosis. most of the anomalies encountered. The events leading to
This is the population for which the best argument for foetal this malformation are likely to occur between 4 weeks and 6
surgery can be made. Two techniques available are: (1) in weeks of foetal life.
utero repair and (2) in utero tracheal ligation.
Anatomy and Classification
Surgery The most simple and commonly used classification is
Congenital diaphragmatic hernia is not a surgical emergency, the gross classification that divides it into seven types
and preoperative stabilisation is a prerequisite. Deferred (Figs 10.1A to E).
A B C D E
Figs 10.1A to E: Gross classification for oesophageal atresia with tracheo-oesophageal fistula
Neonatal Surgery 207
1. EA without fistula (68%) pouch is then easily seen. The upper oesophageal pouch
2. Upper oesophageal fistula with distal atresia is sometimes better seen on lateral chest radiograph.
3. Upper pouch atresia with distal fistula (85%) The presence or absence of gas in the abdomen is an
4. Upper and lower pouch fistula important finding. If no gas is seen, and an oesophageal
5. H type (N type) tracheo-oesophageal fistula (35%) obstruction has been confirmed by catheter, the diagnosis
6. Oesophageal stenosis of pure oesophageal atresia can be confidently made,
7. Membranous atresia. although rarely the distal fistula may be occluded.
Four (2, 4, 6, 7) of the above types comprise 35% of all The plain film is also examined for the presence of
these anomalies. vertebral anomalies; right-sided aortic arch and signs of
other anomalies like duodenal atresia and cardiac defect.
Clinical Features The passage of a firm catheter (at least 8 French) through
At birth, oesophageal atresia should be suspected when the mouth or nose into the oesophagus confirms the
there is excessive salivation and frothing out of mouth and diagnosis. The catheter usually blocks at about 10 cm
nose. Episodes of cyanosis or choking may be present. If from the alveolar margins.
feedings are attempted, the choking and coughing will be Echocardiography is further recommended preoperatively
aggravated. to identify cardiac anomalies, which are present in 20
Fever, trachycardia, pallor and listlessness are late signs 30% of the patients.
of pneumonitis with sepsis. With mechanical ventilation
required, abdominal distension can develop rapidly,
Associated Anomalies
since there is free passage of air from fistula to stomach. They involve nearly every part of the body. Cardiovascular,
Gastric rupture may occur particularly when obstruction musculoskeletal, gastrointestinal and genitourinary defects
of the stomach from duodenal atresia or malrotation is are most common. VSD, PDA and right aortic arch are
present. With a pure oesophageal atresia the abdomen is most common of cardiovascular lesions. Imperforate anus,
flat as no air can pass into stomach. malrotation and duodenal atresia are the lethal anomalies
Abdominal distension may be marked in a baby with of the gastrointestinal system. Among the genitourinary;
patent distal fistula. However, the presence of a scaphoid hydronephrosis, renal agenesis, uterine or vaginal anomalies
abdomen in these neonates is strongly suggestive of a are most common.
pure oesophageal atresia without a distal fistula. Combination of anomalies is frequent and form various
syndrome. These are VATER (or VACTRL) association, seen
Diagnosis in roughly 10% of the cases. The eponym stands for vertebral
defects, anorectal malformation cardiovascular anomalies,
Antenatal tracheo-oesophageal, renal and limb malformations. The
With improved obstetrical ultrasonography, the diagnosis CHARGE syndrome is much less common and has a more
can often be suspected in the foetus. Polyhydramnios is guarded prognosis.
present in nearly all cases of pure oesophageal atresia and
60% of cases with distal fistula. The fluid filled stomach, Management
seen easily after 16 weeks of gestation, may appear smaller In the past many surgeons used the classification proposed by
than usual or may escape visualisation, especially with pure Waterston to establish treatment plan. Advances in neonatal
oesophageal atresia. Polyhydramnios and nonvisualisation of care have affected the prognostic usefulness of the Waterston
the stomach, of course, may also occur in conditions such as classification.
diaphragmatic hernia, facial cleft and others.
Preoperative Management
Postnatal
The surgical repair of EA is not an emergency and it is far
An infant with excessive oropharyngeal mucus, important to stabilise the neonate and complete preoperative
choking spell, recurrent cough and dyspnea must have evaluation before taking up the baby for surgery. The
a chest X-ray at the earliest. The best examination is preoperative care involves:
the babygrama radiograph of the whole body that Continuous or intermittent upper pouch low pressure
includes the neck, chest, abdomen and pelvis. Just before suctioning. A Replogle sump catheter is placed in upper
the X-ray is taken, the mucus should be aspirated and air pouch and connected to low pressure (< 5 mmHg)
insufflated through the red rubber catheter. The upper suction to avoid Gas-steal.
208 Hutchison's Paediatrics
The neonate is to be nursed in prone or lateral head up - Majormediastinitis, abscess, empyema, tension
position. pneumothorax
Hypothermia is avoided using overhead warmer and Anastomic stricture 30%
keeping the handling of the baby to minimum. Recurrent fistula (35%)
The respiratory rate and saturation are monitored with Swallowing incoordination: Aspiration.
blood gas parameters to assess the need for supplemental Delayed
oxygen or ventilation. Tracheomalacia
Good intravenous access is established for intravenous Gastro-oesophageal reflux (GOR) (5070%)
fluids and antibiotics. Babies with pneumonia or Motility disorder
sepsis may require 2448 hours of antibiotics, chest Asthma, bronchitis
physiotherapy and ventilation. Scoliosis, chest wall deformities (Late).
INFANTILE HYPERTROPHIC PYLORIC STENOSIS Gastritis with gastric ulceration can occur late in the
disease due to distension and stasis.
Infantile hypertrophic pyloric stenosis (IHPS) is a common Jaundice is seen in a significant number of babies and is
cause of gastric outlet obstruction in infants. The prevalence associated with depression of the enzyme hepatic gluconyl
of IHPS ranges from 1.5 to 4.0 in 1,000 live births among transferase.
whites but is less prevalent in African-Americans and Asians.
It is more common in males with a male:female ratio of 2:1 Diagnosis
to 5:1.
Non-bilious projectile vomiting, visible gastric peristalsis
Although obstructing pyloric muscular hypertrophy is
and hypochloraemic hypokalemic metabolic alkalosis are
occasionally found in still borns, cases have been reported
cardinal features of IHPS. A definitive diagnosis can be
with intrauterine gastric distension associated with pyloric
made in 75% of the infants with IHPS by careful physical
hypertrophy. This disorder generally evolves during the
examination alone but this is becoming more of a lost skill.
first postnatal week and become clinically significant only
Frequently, imaging procedures are requested in lieu of
after 24 or more weeks of life. For these reasons the entity
careful physical examination. To be successful in palpating
should be considered acquired rather than congenital.
the pyloric olive, the infant must be calm and cooperative.
The examiner should be ready to commit 515 minutes for
Anatomy and Aetiology
proper examination. Examination with a pacifier or just after
The appearance of the pylorus in IHPS is that of enlarged feeds could be more successful.
muscle mass measuring 22.5 cm in length and 115 cm Ultrasonography is the most common imaging
in diameter. Histologically the mucosa and adventitia are technique for the diagnosis. The commonly used criteria on
normal. There is marked muscle hypertrophy primarily ultrasonography include a pyloric muscle thickness of 4 mm
involving the circular layer, which produces partial or and a pyloric channel length of 16 mm or more.
complete luminal occlusion. A barium upper gastrointestinal examination is highly
There is genetic predisposition to the development of effective in making the diagnosis. An elongated pyloric
IHPS. In addition to the variability among races and clear channel and two indentations at the distal end of antrum are
male preponderance, there is an increased risk to the first suggestive of IHPS (Fig. 10.2).
born infants with a positive family history and certain ABO
blood types, elevated gastrin levels, higher concentrations Laboratory Studies
of neurotransmitter substance P and a decrease in nerve
The classical findings in advanced pyloric stenosis are a
supporting cells in muscle layers have all been implicated in
raised haematocrit, an increased urinary specific gravity
pylorospasm and muscle hypertrophy.
Clinical Presentation
The cardinal symptom is vomiting after 34 weeks of age.
The initial emesis is mild but within one to several days, it
increases in its frequency, its amount and its forcefulness
until typical projectile vomiting has developed. Affected
babies are usually vigorous and not obviously dehydrated.
Although they remain hungry they begin to refuse breast
or the bottle feeds as the stenosis becomes more severe.
They continue to urinate until late in the course of disorder,
but the stools are usually diminished in their number and
amount.
About 20% of the infants begin to vomit shortly after
birth. A second group has an abrupt onset of vomiting after
the first week or two of life. The Classical history is that of
increasing emesis at 24 weeks of age, in a first born male,
seen in less than 20% of the cases.
Haematemesis is a symptom of variable frequency.
The bleeding is oesophageal in origin due to erythema and Fig. 10.2: Upper gastrointestinal tract contrast study in hypertrophic
friability of the distal one-third of the oesophagus. pyloric stenosis
210 Hutchison's Paediatrics
3. Subtotal Hirschsprungs diseaseinvolves up to mid- Anorectal manometry assesses the relaxation of the
transverse colon. internal anal sphincter in response to rectal distension. A
4. Total colonic aganglionosisinvolves entire large colon. failure of the sphincter to relax, or indeed an increase in
5. Total intestinal aganglionosisextending to ileum and tone, is a feature of Hirschsprungs disease.
even jejunum. Contrast enemas are widely used, both to make the
6. Ultrashort segment Hirschsprungs diseaselimited to diagnosis and to establish the position of the transition
distal 23 cm of rectum. zone. Not infrequently contrast enemas are requested in
the presence of intestinal obstruction in newborns to more
Initial Management clearly define large bowel anatomy. Subsequent to the enema
The management for those presenting with neonatal intestinal marked decompression may be achieved and the infants
obstruction is the same as for any other form of obstruction condition improved.
intravenous fluids, nasogastric decompression and consi When specifically looking for Hirschsprungs disease the
deration of antibiotics. If rectal examination produces gas and recommendation is to use 50% dilute barium sulphate. The
meconium then causes of complete mechanical obstruction, irregular contracted rectum and distal sigmoid colon with a
such as atresia, have been out-ruled. If no gas or meconium transition cone into dilated proximal bowel will be seen. With
is produced after rectal examination then a single rectal standard length Hirschsprungs disease the contrast enema
washout with saline is performed. The aim is to establish appearance will usually correspond with the histological
if there is gas in the distal intestine to narrow the range of findings. With long segment or total colonic disease the
differential diagnoses. If there is no gas after the washout, appearance on the enema may not be reliable and false cones
a contrast enema is performed. This will show the colonic are known to occur.
anatomy, may demonstrate the presence of a meconium plug A delayed X-ray film taken at 2448 hours may
or a small left colon, and if the contrast reaches gas filled demonstrate retention of contrast, lending support to a
intestine then intestinal continuity is confirmed. It is usual for diagnosis of Hirschsprungs disease. The cardinal features
children with Hirschsprungs disease to pass large amount of included a transition cone, irregular bizarre contractions of
gas and meconium after a washout or a contrast enema and the aganglionic zone and barium retention. However, high
the infants clinical condition will then improve. false-positive rates of diagnosing Hirschsprungs disease by
If the presentation is with enterocolitis then urgent barium enema in infancy have been reported.
decompression is necessary. A rectal examination and rectal
washouts are employed and are usually successful. Failure to Operations
decompress under these circumstances will indicate a need Staged (colostomy, pull-through, colostomy closure)
for surgery. If decompression is successful then surgery Single-stage pull-through (without colostomy)
should be deferred until a time of greater physiological Laparoscopic assisted pull-through.
stability. All these children should receive oral vancomycin
as well as broad-spectrum intravenous cover. Treatment
For those infants and children presenting with a history
of constipation, the need for urgent investigation is less Once the diagnosis has been established there are many
pressing. Recourse to enemas and washouts will alter the options for treatment.
appearance of the bowel on a contrast enema. The first decision is whether or not to bring out a stoma.
Many infants can be managed for a week or month by means
Diagnosis of daily saline rectal washouts. However, some children with
There is no substitute for a tissue diagnosis. Reliance extensive disease will not achieve satisfactory decompression
on contrast enemas or manometry is less secure and less by this means. If washouts are unsatisfactory then a stoma
accurate. Clinical impression needs confirmation. will be necessary.
Rectal suction biopsy has been proved satisfactory and The next consideration is where to site the stoma. For
reliable in the hands of expert pathologists. Regardless of the many years the approach to Hirschsprungs disease was a
method used, the biopsies should be taken from the posterior three-stage reconstruction: (1) right transverse colostomy, (2)
rectal wall, at least 25 mm above the dentate line. The bowel pull-through at 69 months of age and (3) colostomy closure
below this level is hypoganglionic and the failure to see some weeks later. Others have used a two-stage procedure:
ganglion cells may not be pathological. (1) fashioning the stoma above the transition zone and (2)
Various methods of punch biopsy obtaining biopsies then using the stoma as the apex of the pull-through. In many
have been described. Suction biopsy instruments are widely cases, a single-stage reconstruction is safe and effective.
used in young infants. Rectal biopsy may be followed by Single-stage procedures can only be accomplished if
complications like bleeding and perforation. reliable frozen section histology is available.
214 Hutchison's Paediatrics
In attempting to define the length of the aganglionic The previously divided and sutured bowel is then pulled
bowel, biopsies may be sent from the apex of the sigmoid through with care to avoid torsion. The open end is sutured
colon, distal descending colon, splenic or hepatic flexures to the anal incision with interrupted absorbable 4/0 sutures.
and appendix of terminal ileum. Finally, the double wall between rectum and colon is stapled
Three pull-through operations and their variants are in and divided with a linear stapler. Alternatively, a crushing
common use throughout the world and will be described here. clamp can be left attached.
These are the Swenson, Duhamel and Soave procedures. All Within the abdomen, the open end of rectum is then
are modified from the original descriptions but in each case closed with a running extramucosal 4/0 suture.
the original concept is valid. For the Soaves procedure, the principal is to keep a
The Swenson operation entails dissection of the rectum muscular cuff of rectum without the mucosa through which
from its attachments in a plane on the rectal muscle wall. the ganglionic bowel is pulled through. From the abdominal
The dissection may be commenced on the wall of the distal side, at the level of the white line of peritoneum, the muscle
sigmoid or upper rectum. The dissection advances distally, coat is divided with scissors circumferentially to enter the
dissecting the full circumference of the rectum. Deep in the submucosal plane. This plane is then dissected with gauze
pelvis it is important to remain close to the rectum on its pledgets or with artery forceps. The dissection is easier in
anterior aspect. When the dissection has reached to within young infants. The submucosal dissection progresses distally
2 cm of the dentate line anteriorly and 1 cm posteriorly to a level about 1 cm above the dentate line and the mucosal
this phase is complete. The distal extent of the dissection is tube is then everted.
judged by inserting a finger in the anus. At this stage, the Once the dissection has been completed the mucosal tube
bowel is divided at the level chosen for the pull-through and is divided 12 cm above the dentate line and the ganglionic
the two ends sutured closed. bowel is pulled through and sutured at this level. There
The anal phase of the dissection then commences. The seems little reason to perform the original Soaves operation
apex of the dissected rectum is drawn out through the anus, which left the pull-through bowel outside the anus and most
everting the rectum. If the dissection has been adequate the now perform the Boley modification. The catheter is usually
anus may be partially everted. An incision is made from removed after 24 hours and enteral feeding resumed once
9 to 3 oclock anteriorly through the rectal wall, 12 cm intestinal function is established.
above the dentate line. Only the bottom of the dentate line In the presence of a defunctioning stoma a contrast study
can be identified with certainty and this is the point from should be performed after 2 weeks. If the appearances are
where measurements are made. Through this opening in satisfactory the stoma may then be closed.
the rectum the ganglionic colon is pull-through with care to
avoid torsion. The colon is opened at its apex and sutured Complications
full thickness to the cut edge of anorectum with interrupted Surgery for Hirschsprungs disease is associated with all the
absorbable 4/0 sutures. usual complications that may follow major intestinal surgery.
The incision of the rectum is then completed in stages, as These include leakage, wound infection, dehiscence and
is the anastomosis. postoperative bleeding. The early mortality was 3.3%.
Posteriorly in the 6 oclock position the suture line should Long-term complications include varying degrees of
be about 1 cm from the dentate line. The rectum is now free faecal incontinence, recurrent enterocolitis intractable
and should be sent for histological examination. strictures and fistulae.
The commencement of the Duhamel procedure is
identical. The early phase of rectal dissection is also the ANORECTAL MALFORMATIONS
same. The dissection proceeds circumferentially until within
34 cm of the dentate line. This level is well below the pelvic Anorectal malformations account for the most common
peritoneum. congenital anomalies dealt by paediatric surgeons all over
The anal phase then commences. It is best to partially the world. To understand the present treatment options of
evert the anus for this phase. This is easily accomplished the varied forms of this anomaly, it would be interesting
by using tissue forceps at the 3 and 9 oclock positions. An to briefly go through the historical developments of the
incision is then made along the dentate line from 4 to 8 oclock treatment options for anorectal malformations.
and a retrorectal tunnel developed initially with scissors and Although the absence of a normal anus was recognised by
then with a long clamp. This tunnel should quickly reach the the Greek, Romans and Arabic physicians in ancient history,
level of the abdominal dissection. The tunnel is then widened it was in the seventh century that Paulas Aeginata described
to accommodate the pull-through bowel. a method of treatment by passing a bistoury through the
Neonatal Surgery 215
perineum followed by dilatation with bougies. In 1710, the Incidence and Aetiology
use of colostomy was described for these malformations.
The worldwide incidence of the anomaly is 1:5,000 live
Denis Browne described these malformations as high and
births. The anomaly is more common among male infants
low depending on whether the gut ended above or below the
(5565%).
levator ani.
The exact cause is still unknown but these malformations
The aim of management is now from saving life to
are thought to be the result of arrests or abnormalities in
ensuring a normal quality of life. Management is now
the embryological development of the anus, rectum and
based on accurate scientific information and the surgery is
urogenital tract.
performed by trained paediatric surgeons.
Genetic predisposition has been seen rarely in some
Embryology families. Sex-linked and autosomal dominant inheritances
have been suggested. Apparently there is no racial
The anus, lower rectum and urogenital system become predilection.
differentiated between 5 and 8 weeks of embryonic life.
The allantoic duct is in communication with the hindgut Classification
in a cavity known as cloaca, closed to the exterior by the
Krickenbeck International classification has been outlined in
cloacal membrane.
Table 10.1.
This cavity is divided by the urorectal septum into
urogenital tract anteriorly and posteriorly by two processes. Table 10.1: International classification (Krickenbeck, 2005)
First there is the Torneauxs septum which stops its
downgrowth at the level of the verumontanum or the mullerian Major clinical groups Rare/regional variants
tubercle. It is here that most rectourethral fistulae occur in Perineal (cutaneous) fistula Pouch colon
the male. Below this point, the urorectal septum consists
Rectourethral fistula Rectal atresia/stenosis
of an ingrowth of mesenchyme from a lateral direction that
fuses in the midline. This is called Rathkes fold. Prostatic Rectovaginal fistula
An ingrowth of mesoderm divides the cloacal membrane Bulbar H-fistula
into the urogenital membrane ventrally and the anal
Rectovesical fistula Others
membrane dorsally. The perineum is formed by a continued
Vestibular fistula
ingrowth of this mesoderm between the two membranes.
The urogenital portion acquires an external opening by Cloaca
the 7th week. No fistula
The anus develops by an external invagination, the Anal stenosis
proctodeum, which deepens to the rectum but is separated
from it by the anal membrane. At the 8th week, the anus Clinical Presentation
acquires an external opening by the rupture of the membrane.
In the female, the mullerian ducts which form the uterus Local Examination
and vagina descend in the urorectal fold long after the
The anomaly is usually characterised by the absence of
portioning of the cloaca by the urogenital septum so that
the rectal fistulous connections usually occur in the vagina anal opening at its normal site though a varied spectrum of
and not in the bladder or urethra as in the male. If the anomalies is seen depending upon the extent of anorectal
portioning fails to occur in the female, the mullerian ducts agenesis and the presence or absence of associated
relentlessly descend on the undivided cloaca and carry genitourinary fistula (Fig. 10.3).
through to the perineum. Thus, the rectum is carried along The key to successful clinical diagnosis in case of
with the descent of the mullerian ducts to arrive at or very anorectal malformation is very careful examination, which
near the perineum. may need to be repeated in babies seen only few hours after
The external sphincter muscle is derived from the regional birth as it takes 1218 hours for swallowed air to reach the
mesoderm (although sphincter muscle fibres are present in all terminal part of the colon.
cases, there may be a good deal of variation in the size of the The following tell tale signs should be looked for:
muscle bundle). Gross abdominal distension after 24 hours of life may be
The puborectalis plays a key role in maintaining the angle seen in a patient without fistulous communication or with
between the anal canal and rectum and hence is essential for a tiny fistulous communication with the genitourinary
preservation of continence. tract
216 Hutchison's Paediatrics
Rectal Atresia
A normal anal opening without continuity with the bowel
above.
Systemic Examination
Complete physical examination, including passage of a
nasogastric tube to rule out an esophageal atresia should be
done in all cases.
The abdomen should be examined for any palpable
enlargement of the kidneys or bladder, other associated A
congenital anomalies like major cardiac malformations,
major vertebral and craniocerebral defects and Downs
syndrome.
It is possible today to exclude or confirm the presence
of all these malformations in a reasonably short time by a
careful clinical examination, ultrasonography including
echocardiography, plain skiagram of the chest, abdomen and
spine.
Associated anomalies which need to be identified before
the baby is discharged include:
Obstructive uropathies and severe vesicoureteric reflux B
Ambiguous external genitalia and deformities of male Figs 10.4A and B: (A) Invertogram showing an anorectal malforma-
and female genitalia tion. Note marker at the anal pit; (B) Cross table lateral invertogram
Other renal, limb and ocular anomalies. showing an anorectal malformation
218 Hutchison's Paediatrics
A B
Figs 10.5A and B: A line diagram showing the conventional understanding of the pelvic anatomy in (A) Female;
(B) Male, showing relationship of P-C and P-I lines
A B
Figs 10.6A and B: Invertogram: (A) A high anorectal anomaly above P-C line; (B) An intermediate anorectal anomaly between P-C and P-I lines
A gap of greater than or equal to 1 cm between gas reflux, urethral stricture or connection between the ureter
shadow and skin usually represents a high anomaly (a gap < and vas deferens. This is usually not done in the newborn
5 mm usually represents a low lesion). period as the main criteria to decide at that time is whether
The level of the terminal bowel can also be determined or not a colostomy will be required.
by ultrasonography. The relation of the terminal bowel to In cases that have undergone colostomy in the newborn
the sacrum, the urogenital organs and the surface can thus be period, a distal cologram is performed to delineate the
visualised. fistulous communication.
A lateral X-ray taken after instillation of radio-opaque dye The newer imaging modalities, namely CT scan and MRI
through a catheter in the urethra will delineate the terminal scan are not really essential for managing a neonate, though
bowel, if there is a relatively large urethral fistula. Voiding their information is valuable in delineating the anatomy in
cystogram may be obtained to demonstrate a fistula, ureteral complicated cases or those requiring a redo surgery.
Neonatal Surgery 219
Continence
Good bowel control is usually achieved after correction of
low anomalies in about 90% of patients. In case of high
anomalies, it depends on the sacral, muscular and sphincteric
development. After Penas PSARP, the reported results of
continence have markedly improved worldwide. Fig. 10.7: Lumbosacral meningomyelocoele
Neonatal Surgery 221
By day 25, the caudal end of the neural tube blends into
the caudal cell mass. Small vacuoles form in the caudal cell
mass, which coalesce and eventually connect with the central
canal of the cord by a process called canalisation. The distal
spinal cord then involutes (retrogressive differentiation) to
form the filum terminale and the differential growth causes
the conus medullaris to ascend. The conus lies at the L23
interspace at birth and reaches the adult position (L12) by 3
months of age.
Aetiology
Aetiologic factors implicated in NTDs include alcohol, drugs
Fig. 10.9: Sacral meningomyelocoele with gross deficits; paresis, like carbamazepine and valproate, malnutrition and folate
neurogenic bladder and bowel
deficiency.
3. Rachischisis refers to a large neural placode with open
central canal without any encasing meninges. It is usually Epidemiology
associated with severe hydrocephalus and neurological Myelomeningocoele is the single most common congenital
deficits. defect of the central nervous system. Relation with maternal
age and nutrition, parity, seasonal variation and a host of
Embryology
other environmental factors have all been implicated as
The primitive streak appears at the caudal end of the embryo aetiologic factors. The risk of recurrence is believed to be
in stage 6 (Day 1315) and elongates cranially. The Hensens around 35%.
node is at the cranial end of the primitive streak. The epiblast
cells migrate through the primitive groove and form the Prenatal Diagnosis and Prevention
endoderm and mesoderm (gastrulation) during stage 6. As
the primitive streak regresses the notocord is formed which Screening: Maternal serum alpha-fetoprotein (AFP)
has a central canal. The notocord induces the overlying levels at 16th to 18th week of gestation, if raised,
ectoderm to form the neural plate, the lateral ends of which suggests a NTD but this test has a sensitivity of around
form neural folds that fuse in the midline to form the neural 75% only and is not expected in skin covered lesions.
tube (neurulation-stage 812, 1827 days). The formation of Elevated amniotic fluid AFP and acetylcholinesterase
the neural tube starts from the cervical region and proceeds measurement also suggests NTD but false-positive results
cranially and caudally. The anterior and posterior neuropores can be expected.
close at about 2325 days of gestation respectively. The Foetal ultrasonography may visualise the spinal placode
superficial ectoderm fuses in the midline and mesenchymal or splaying of the posterior elements or vertebral
cells migrate between the neural tube and skin to form the anomalies. Indirect signs of myelomeningocoele are more
meninges, neural arches and muscles. easily detected and include the banana sign (elongated
222 Hutchison's Paediatrics
appearance of the cerebellum secondary to the Chiari Evaluation of lower limb power, tone and reflexes
malformation) and the lemon sign (inward appearance of There is usually flaccid paralysis with lumbosacral
the frontal bones). The lemon signs detect 80% of NTD as meningomyelocoeles. In cervical/and some of the
compared to 93% with the banana sign. Ventriculomegaly thoracic lesions there may be features of spasticity
(> 10 mm lateral ventricular atrium diameter) is usually Deformities of the foot and evidence of flexion contractures
more common after 24 weeks of gestation. Note grade of muscle power in limbs by stimulating
Up to 14% of foetuses with NTD detected in the 2nd upper abdomen or chest.
trimester have associated trisomy 13 or 18 and therefore,
it is mandatory to do a chromosomal analysis prior to Evaluation of hydrocephalus
taking a decision regarding further management.
Note the initial head circumference, fullness of anterior
The risk of recurrence is around 13% and it is mandatory
fontanelle, squamo-parietal sutural diastasis and setting-
that mothers with one affected child be started on 5 mg/d of
sun sign.
folic acid 3 months prior to a planned pregnancy. Prenatal
repair of myelomeningocoele in utero has been attempted to Evaluation of lower cranial nerves and
decrease the risk of neurological deficits as a result of trauma brainstem function
or amniotic fluid exposure.
Caesarean section or continuation of pregnancy is Look for regurgitation, difficulty in feeding, stridor,
contraindicated in presence of chromosomal abnormality, apnoea, hypotonia, which suggests a significant Chiari
associated anomaly, advanced hydrocephalus, flat lesion at or malformation (poor prognostic factor).
below plane of the back and absent knee and ankle movements. General Paediatric Assessment
Associated Anomalies in Myelomeningocoele To rule our associated anomalies or chromosomal
anomalies (club feet, congenital heart disease, cleft palate,
Hydrocephalus 8090%
hernias, congenital dislocation of the hips, genitourinary
Chiari malformation
abnormalities).
Nearly 100%
Clinically significant: 1020% Evaluation of the bladder/bowel
Brain
Micropolygyria Elicit the anocutaneous reflex and bulbocavernous reflex
Cerebellar dysgenesis Palpate for bladder/kidneys and check if bladder is
Corpus callosum agenesis expressible; note urinary stream. It is important to note
Cysts that if one leg is normal, bladder function can be expected
Vertebral anomalies to be normal.
Fusion defect
Hemivertebrae Clinical Examination and Investigations
Butterfly vertebrae Motor examination Nerve roots
Scoliosis/Kyphosis (30%) Hip flexion L13
Genitourinary Hip adduction L24
Undescended testes Knee extension
Vesicoureteric reflux Hip abduction L5S2
Hydronephrosis Hip extension
Club feet Knee flexion
Otherscardiovascular anomalies, cleft palate, conge Plantar flexion S1
nital dislocation of hip and hernias.
Investigations
Clinical Assessment Ultrasound Sac
Head
Evaluation of the lesion
Kidney
Size, shape of lesion; presence of scoliosis/kyphosis; Post-void residue
laxity of surrounding skin to plan surgery CT/MRI CNS abnormalities
Evidence of CSF leak or infection Hydrocephalus
Transillumination to assess the amount of neural tissue in Other vertebral anomalies
sac. Routine preop workup
Neonatal Surgery 223
Counselling and Selection Criteria Wide mobilisation of the skin and subcutaneous tissues
till the lateral abdominal wall (if necessary) and also
The following factors help the surgeon in arriving at a
superiorly/caudally
decision and counselling the parents:
Age and general condition at presentation Closure of subcutaneous tissue (4th layer) and skin (5th
Size, shape and level of defect layer)
Presence of infection or CSF leak Tight barrier dressing.
Status of lower limbs and sphincters
Postoperative Care
Presence of hydrocephalus
Socioeconomic status of parents and family history. Routine antibiotics, nurse prone
Mannitol for 3 doses followed by oral diamox (50100
Parents are Explained Regarding mg/kg per day) the next day
Prognosis in terms of ambulation, mental development Monitoring of head circumference and serial ultrasound
and continence of urine and faeces for hydrocephalus
Need for shunt surgery in up to 7580% cases with its Watch for Chiari malformation complications
associated complications and revisions Monitor postoperative neurological status
Need for urological and bowel treatment with repeated CSF leak is managed by increasing diamox dose and CSF
follow-up and surgical intervention as needed shunting
Risk of surgery and chances of secondary tethered cord Barrier dressing at all times to prevent infection
later Monitor post-void residue; institute clean intermittent
It is important to understand that the parents should catheterisation or anticholinergics early
ultimately decide regarding the management, but it is Explain postoperative care; follow-up protocols, physio
the duty of the surgeon to give the correct picture in therapy, expected complications and long-term problems
detail. Also, it must be remembered that not all untreated in detail.
children die and may present later with a far worse
neurological status. A few of them may require surgery
HYDROCEPHALUS
of the large sac for better nursing care.
Hydrocephalus is defined as a dilatation of the cerebral
Preoperative Care ventricles caused by a discrepancy between CSF production
Besides maintaining normothermia and the standard neonatal and absorption.
care, these children have to be nursed prone. The lesion is The incidence of infantile hydrocephalus is around
covered with sterile and saline soaked dressings. A deep head 34:1,000 live births. Congenital hydrocephalus comprises
ring may be helpful for nursing. Preoperative antibiotics are about one-third of all congenital malformations of the
used routinely in antimeningitic doses. nervous system.
which produces obstruction to CSF flow usually at the Management of Antenatally Detected
subarachnoid level. The incidence of hydrocephalus following Hydrocephalus
meningitis ranges between 1% and 5%. Intrauterine viral
infection with cytomegalovirus, rubella, mumps, varicella and Recent studies have dampened the enthusiasm of treating
parainfluenza is also responsible for congenital obstructive antenatally detected hydrocephalus in view of the poor
hydrocephalus of the noncommunicating variety. prognosis and ill-defined natural history of the disorder.
It is now accepted that the overall mortality in foetuses
Post-tuberculous Meningitis Hydrocephalus with antenatally detected ventriculomegaly is around 70%
while only 50% of the survivors show normal intellectual
Neurotuberculosis constitutes almost half of the cases of development. The incidence of associated anomalies with
childhood tuberculosis and tuberculous meningitis (TBM) is antenatally detected hydrocephalus is reported to be as high
the most common manifestation of CNS tuberculosis. The as 81%. Moreover 2040% of these anomalies can be missed
causes of hydrocephalus following TBM include: on antenatal sonography. The high rate of complications
Communicating hydrocephalus due to blockage of basal associated with the ventriculo-amniotic shunt and need for
cisterns by the tuberculous exudate in the acute stage and multiple revisions secondary to dislodgement and blockage.
adhesive leptomeningitis in the chronic stage
Noncommunicating hydrocephalus caused by blockage of Congenital CSF Anomalies of the
the aqueduct or outlet foramina of the 4th ventricle. Posterior Fossa
Post-haemorrhagic Hydrocephalus in The restricted area of the posterior fossa with its vital
the Premature Infant contents and frequent aberrant anatomy poses a diagnostic
and therapeutic challenge. The various anomalies seen are:
Haemorrhage into the germinal matrix of the immature
Arachnoid and neuroepithelial cysts
brain and extension into the ventricular system remains a
Dandy-Walker malformation
major problem in premature neonates. Post-haemorrhagic
Isolated 4th ventricle
hydrocephalus is secondary to a fibrous thickening of the
Pulsion diverticulum
meninges with an obliterative arachnoiditis and obstruction
Mega cisterna magna and ex-vacuo states.
of CSF flow through the normal subarachnoid pathways.
Treatment
Diagnosis
The goals in the treatment of hydrocephalus include:
Diagnosis is confirmed on ultrasonography or documentation
Decrease the intracerebral pressure to safe levels
of raised ICP. Post-haemorrhagic hydrocephalus presents
Increase the volume of brain parenchyma to maximise
withincreasing occipitofrontal head circumference, tense
the childs neurological development
anterior fontanelle, lethargy, feeding difficulty, bradycardia
Minimise the likelihood of complications, detect and
and ventilator dependency. The other manifestations include
aggressively treat any complications
SIADH, persistent metabolic acidosis, abnormal eye move
Maintain the integrity of CSF pathways to prevent
ments and hypertonia.
ventricular coaptation and preserve the potential for life
Treatment without shunt dependency.
The communicating hydrocephalus resulting secondary to Medical Treatment
intraventricular haemorrhage can be managed by:
Serial lumbar puncturesrepeated lumbar punctures The medical treatment of hydrocephalus is not an
are done to relieve ICP as necessitated by clinical or alternative for shunt surgery but has a definite role in some
ultrasonological examination. Serial lumbar punctures clinical situations. The potential for spontaneous arrest of
have been reported to resolve post-haemorrhagic hydrocephalus exists in infants due to the linear increase
hydrocephalus in selected cases in 16 weeks in CSF absorption seen with increase in ICP. The four
Acetazolamide (50100 mg/kg per day) and furosemide modalities of medical treatment of hydrocephalus are given
(2 mg/kg per day) with careful electrolyte and acid-base as follows.
status monitoring
Ventriculostomy/Valveless shunts
Removal of Cerebrospinal Fluid
The recent use of flexible ventriculoscopes for irrigation, The rate of CSF production is around 0.02 ml/min in neonates
evacuation of blood or to lyse intraventricular septations and the total ventricular CSF volume varies between 5 ml and
may decrease the need for shunting. 15 ml. Serial lumbar puncture for CSF removal is indicated
Neonatal Surgery 227
in hydrocephalus secondary to intraventricular haemorrhage Four types of valves are currently available: (1) slit
in infants and treatment of normal pressure hydrocephalus in valve, (2) ball in cone valve, (3) diaphragm valve and (4)
adults. Meninigitis, vertebral osteomyelitis and hypernatraemia miter valve. The most common shunt performed is the
are the potential complications of the procedure. ventriculoperitoneal shunt. Recently 3rd ventriculostomy is
gaining popularity.
Decrease Cerebrospinal Fluid Production
Ventricular shunt complications include:
Carbonic anhydrase inhibitors: Acetazolamide is a potent Common to all types of shunt:
inhibitor of carbonic anhydrase. Furosemide is another agent Malfunction
used in inhibiting choroidal CSF production. Both the drugs can Obstruction
reduce CSF flow by 5060% at sufficient doses. Acetazolamide Disconnection or fracture
is given in the dose of 50100 mg/kg and furosemide at Shunt migration
1 mg/kg. Nearly all infants receiving acetazolamide at these Shunt infection
doses will develop metabolic acidosis. Furosemide on the Overdrainage
other hand causes metabolic alkalosis and nephrocalcinosis. Slit ventricle syndrome
Subdural/Extracerebral CSF collections
Decrease Brain Water Content Craniosynostosis
Osmotic diuretics increase the outflow of water from the Seizures
interstitial space into the capillaries. Osmotic diuretics are Pneumocephalus
effective temporarily in reducing ICP but prolonged use can Isolated ventricle syndromes.
lead to a rebound effect with an increase in interstitial water. Complications unique to peritoneal shunts:
Isosorbide, mannitol, urea and glycerol are the common Inguinal hernia and hydrocele
agents, which have been used. Ascites
Cyst formation
Increase Cerebrospinal Fluid Absorption Intestinal volvulus and obstruction
Hyaluronidase, urokinase, streptokinase and tissue plas Bowel perforation, bladder perforation
minogen activator have been used experimentally to lyse Intraperitoneal spread of infection and malignancy.
fibrin blocking the subarachnoid villi following haemorrhage.
Long-Term Follow-Up Results
Surgical Treatment Mortality in hydrocephalus patients is usually related to
The decision to perform a CSF shunting procedure has to the aetiology and associated conditions. Most published
be taken with care. The risks involved in performing the series report long-term survival rates of 5090% in
procedure are low but the nature of complications associated surgically treated patients. The natural history of untreated
with shunting are serious. There is a very variable course and hydrocephalus is dismal and only 20% of patients survive
progression of hydrocephalus and its effect on intellectual till adulthood.
development. Studies have demonstrated that a cerebral The best functional results after shunt surgery are obtained
mantle of 2.8 cm is adequate to achieve normal MPQ status in infants below 5 months of age. The care of children with
in follow-up. It is believed that the goal for treating a child hydrocephalus requires a multimodality approach. Early
with hydrocephalus is to achieve a cerebral mantle of 3.5 cm treatment and regular follow-up can insure a favourable
outcome in these children.
by the age of 5 months.
Ventricular catheters are usually made of Silastic
Acknowledgements
(silicone polymer) and have radio-opaque markings or
barium impregnation for visualisation. Some photographs in this chapter have been taken from
The proximal catheter is placed in the lateral ventricle Textbook of Neonatal Surgery Edited by DK Gupta, MBD
ideally anterior to the foramen of Monro. Presently the Publishers, New Delhi in 2000, with prior permission from
peritoneum is the preferred receptacle for the distal catheter. the publishers.
Devendra K Gupta, Shilpa Sharma
C H A P T E R
General Paediatric Surgery 11
CLEFT LIP AND PALATE alcohol during pregnancy (poor early pregnancy health or
exposure to toxins such as alcohol or cocaine) and (3) genetic
Introduction syndromes like Van der Woude syndrome, Pierre Robin
syndrome and Down syndrome are associated with clefts of
Cleft lip and palate is a congenital anomaly, presenting in a the lip and palate.
wide variety of forms and combinations. Cleft lip and palate
are among the most common of congenital deformities. Classification
Cleft lip ranges from notching of the lip to a complete
cleft, involving the floor of the nose, and may be associated Veau-Wardill categorised clefts into the following four major
with a cleft of the primary palate (alveolus or premaxilla) types (Fig. 11.1):
and with clefts of the secondary palate (hard and soft 1. Clefts of the soft palate alone
palate). Chinese physicians were the first to describe the 2. Clefts of the soft and hard palate
technique of repairing cleft lip. Currently Millard technique 3. Complete unilateral clefts of the lip and palate
of rotating the medial segment and advancing the lateral 4. Complete bilateral clefts of the lip and palate.
flap; thus, preserving the Cupids bow with the philtrum is This classification does not provide a means of
widely done. classifying clefts of the lip alone and ignores incomplete
clefts. Kernohan stripped-Y classification describes the cleft
Embryology of the lip, the alveolus and the palate. In this classification,
During the early stages of pregnancy, the upper lip and palate the incisive foramen defines the boundary between clefts
develop due to insufficient mesenchymal migration during of the primary palate (lip and premaxilla) and those of the
primary palate formation in the 4th through 7th week of secondary palate.
intrauterine life normally, as the face and skull are formed;
these tissues grow towards each other and join up in the
middle. When the tissues that form the upper lip fail to join
up in the middle of the face, a gap occurs in the lip. Usually
a single gap occurs below one or other nostril (unilateral cleft
lip). Sometimes there are two gaps in the upper lip, each
below a nostril (bilateral cleft lip).
Aetiology
What causes clefts are not known exactly, but most believe
they are caused by one or more of three main factors:
(1) an inherited gene defect from one or both parents,
(2) environment exposure to any teratogenic agent like
anticonvulsant drugs, e.g. phenytoin and sodium valproate,
during pregnancy is associated with a tenfold increase and Fig. 11.1: Cleft lip and cleft palate, facial clefts drawing indicating the
is twice more in infants whose mothers smoke or consume possibilities of oral and facial clefts
General Paediatric Surgery 229
that surgery fixes the problem completely. In children with BRANCHIAL ARCH ANOMALIES
velopharyngeal anomalies, surgical management includes
revision of palatoplasty, pharyngoplasty, pharyngeal wall Phylogenetically, the branchial apparatus is related to gill
implant, palatal pushback and tonsillectomy/adenoidectomy slits of fish and amphibians; hence the name branchial
in association with other programmed procedures. Shortly derived from Greek for gills. Rathke in 1828 described the
after the initial surgery is completed, the speech therapist development of the pharyngeal arches in the human foetus.
will do complete assessment about speech and developing
communication skills from 15 months of age. Emotional and Embryology
social issues are to be considered and psychiatrist advice At the 4th week of embryonic life, the development of the
should be sought if needed. branchial or pharyngeal arches contributes to the formation
of various structures between the developing head and the
Postoperative Care and Follow-Up heart (i.e. the face, neck, oropharynx and the larynx). There
In the immediate postoperative period, feeding care, are six branchial arches; the last two are rudimentary. Each
complete pain control, wound care is essential. Subsequently arch has a bar of mesoderm. Caudal to each of the four
during follow-up in cleft clinics, assessment of outcome arches is an internal pouch-lined with endoderm. Externally
and consideration for secondary procedure should be made. is branchial cleft, lined with ectoderm. Between each bar,
Speech assessment and dental alignment are essential part of a branchial plate, composed of endoderm and ectoderm,
programmed follow-up. separates the branchial cleft from the branchial pouch.
The 2nd arch grows caudally to join with 5th arch and,
Complications of Cleft Surgery ultimately, covers the 3rd and 4th arches. The buried clefts
become ectoderm-lined cavities, which normally involute
Early Complications around week 7 of development. If a portion of the cleft
Airway obstruction fails to involute completely, the entrapped remnant forms
Bleeding/Haematoma an epithelium-lined cyst with or without a sinus tract to the
Wound breakdown overlying skin.
Necrosis of tissues
Nerve injury Pathophysiology
Damage to teeth Branchial clefts 2, 3 and 4 fuse into one structure referred
Infection to as the cervical sinus of his created by downwards growth
Formation of excess scar. of the overlapping 2nd archs ventral pole, which normally
involutes completely. If a portion of the cleft fails to involute
Late Complications completely, the entrapped remnant forms an epithelium-lined
Abnormal dental occlusion cyst with or without a sinus tract to the overlying skin.
Abnormal palatal morphology There are also few older theories to explain the origin of
Oro-nasal fistulae the branchial sinus. The Inclusion Theory suggests that
Development of abnormal jaw relationships the cystic alteration of cervical lymph nodes is stimulated
Poor acceptable function by trapped epithelium derived from epithelial inclusions,
Abnormal facial balance brachial cleft, pharyngeal pouch and parotid gland. Another
Psychological and social problem. explanation is that it is as a result of recurrent tonsillitis and
pharyngitis, leading to spread of squamous epithelium of
Prognosis pharynx via the lymphatic system to regional lymph nodes.
The outcome is good for improved facial development, Subsequent growth of this epithelium and cystic degeneration
improved appearance, good psychological and social of the node forms the cyst.
acceptance and favourable speech and dental alignment.
Types and Features
Prevention
Since little known about the cause of cleft lip and palate,
First Branchial Cleft Anomalies
the most sensible approach is simply to ensure a healthy First branchial cleft cysts are divided into two types: (1) type
pregnancy by avoiding teratogenic drugs, alcohol and I and (2) type II. Type I cysts are located near the external
smoking during pregnancy. auditory canal. Most commonly, they are inferior and
General Paediatric Surgery 231
posterior to the tragus (base of the ear), but they may also
be in the parotid gland or at the angle of the mandible. They
may be difficult to distinguish from a solid parotid mass on
clinical examination. Type II cysts are associated with the
submandibular gland or found in the anterior triangle of the
neck.
adulthood. Many branchial cleft cysts are asymptomatic. It number, the cyst is lined with respiratory (ciliated columnar)
commonly presents as a solitary, painless mass in the neck of epithelium. Lymphoid tissue is often present outside the
a child or a young adult. A history of intermittent swelling epithelial lining. Germinal centre formation may be seen in
and tenderness of the lesion during upper respiratory tract the lymphoid component, but true lymph node architecture
infection may exist, due to the lymphoid tissue located is not seen. In infected or ruptured lesions, inflammatory
beneath the epithelium. Spontaneous rupture of an abscessed cells are seen within the cyst cavity or the surrounding
branchial cleft cyst may occur, resulting in a purulent stroma.
draining sinus to the skin or the pharynx. Discharge may
be reported if the lesion is associated with a sinus tract. Treatment
Depending on the size and the anatomical extension of the Medical treatment: Antibiotics are required to treat infections
mass, local compressive symptoms, such as dysphagia, or abscesses.
dysphonia, dyspnea, and stridor, may occur. Surgical treatment: Surgery is indicated for branchial
anomalies because there is a lack of spontaneous regression,
Differential Diagnosis a high rate of recurrent infection, the possibility of other
Lymphadenopathyreactive, infective and neoplastic diagnoses and rare malignant degeneration.
Vascular malformations Surgical excision is definitive treatment for this condition
Neoplasm A series of horizontal incisions, known as stepladder
Lymphatic malformationcystic hygroma incision, is made to fully dissect out the occasionally
Ectopic thyroid tissue tortuous path of the cyst
Ectopic salivary tissue. Surgery is best delayed until the patient is at least age 3
months
Investigations Definitive surgery should not be attempted during an
No investigations need to be obtained in the work up of a episode of acute infection or if an abscess is present
branchial cleft cyst but if there is doubt about the diagnosis Surgical incision and drainage of abscesses is indicated
radiological investigations are required. if present, usually along with concurrent antimicrobial
In cases of sinus or fistula, especially in third and fourth therapy.
branchial anomalies, sinogram or barium contrast First branchial remnants are often closely associated with
study can delineate the course of the anomaly. Barium the facial nerve and external auditory canal. Identification and
swallow should be performed after the resolution of acute dissection of the facial nerve is a necessary step. Visualisation
inflammation in order to decrease the chance of false- of the tract at operation may be aided by injecting into the
negative results fistula methylene blue dye or quick-hardening polymers. The
Ultrasonography helps to delineate the cystic nature of dissection may be facilitated by prior catheterisation of the
these lesions fistula.
A contrast-enhanced CT scan shows a cystic and
enhancing mass in the neck. It may aid preoperative Complications of Branchial Cyst
planning and identify compromise of local structures Untreated lesions are prone to recurrent infection and
Magnetic resonance imaging (MRI) allows for finer abscess formation with resultant scar formation and
resolution during preoperative planning. The wall may possible compromise to local structures. Rarely squamous
be enhancing on gadolinium scans cell carcinoma arising in a branchial cleft cyst in adults is
The fine needle aspiration cytology (FNAC) of the lesion described.
can be done if there is doubt about diagnosis or high Complications of surgical excision result from damage
suspicion of neoplastic condition is present. to nearby vascular or neural structures, which include
carotid vessels and the facial, hypoglossal, vagus and
Histologic Findings lingual nerves.
Most branchial cleft cysts are lined with stratified squamous
epithelium with keratinous debris in 90% of cases, 8% of Prognosis
them are composed of ciliated columnar epithelium and Following surgical excision, recurrence is uncommon, with
2% show both types of epithelium. Usually the lumen is a risk estimated at 3%, unless previous surgery or recurrent
filled with viscid yellow fluid characteristically containing infection has occurred, in which case, it may be as high as
large amounts of glittering cholesterol crystals. In a small 20%.
General Paediatric Surgery 233
Sistrunks operation consists of excision not only without treatment by age 3 to 4 years. Those that do not close
of the cyst but also of the paths tract and branches. The may require surgery.
intimate association of the tract with hyoid bone mandates During examination, the contents are reduced in a calm
simultaneous removal of the central portion of the hyoid child and the defect is assessed by passing the finger tips into
bone to ensure complete removal of the tract. the umbilical ring. This is noted so that on follow-up the
The Sistrunks procedure does have its fair share of reduction in size of the defect can be appreciated.
major complications; although uncommon, they can be fairly In extremely rare instances, bowel or other tissue can
morbid. Recurrence is by far the most common complication protrude and become strangulated due to hampering of
of doing a Sistrunks procedure. Hypothyroidism can also blood flow to a section of bowel and require emergency
occur, as already mentioned. Also fistulae can occur and surgery.
can be quite morbid and difficult to deal with when they do
occur. The other major complications are abscess, airway Treatment
injury, tracheotomy and nerve paralysis. Strapping the umbilical hernia with a small tape over
a suitable coin during the early months of life will cause
Prognosis the hernia to shrink and also disappear in 60% cases.
Recurrence occurs in approximately 35% of the cases and Many umbilical hernias close spontaneously by ages 34.
is increased by previous incomplete excision and a history of If closure does not occur by this time, surgical repair is
recurrent infections. usually advised. In younger children, only if the hernia
is causing problems, enlarging, if there is an episode of
UMBILICAL HERNIA incarceration or if the hernia is very large, surgical repair
may be recommended. The decision for surgery should only
An umbilical hernia is a abnormal protrusion of the abdominal be made after a comprehensive examination by a paediatric
lining or abdominal viscera, usually the bowel loops through surgeon.
a congenital weakness in the area around the navel part of the Surgery to repair the hernia is performed under general
intestine and/or fluid from the abdomen. anaesthesia.
The defect is caused by incomplete closure of the muscle A small incision is made at the base of the belly button. If
of the abdominal wall at the umbilical ring, through which any intestine is present in the hernia, it is placed back into the
the umbilical blood vessels passed to provide nourishment to abdominal cavity. The opening in the muscle is then repaired
the developing foetus. with multiple layers of stitches to prevent another hernia. A
dressing is placed to keep the belly button flat.
Incidence While premature infants and children with certain
The exact incidence is unknown, but may be as high as 1 medical conditions may require overnight observation in the
in 6 infants. Low birth weight and premature infants are hospital, most children are able to return home within a few
also more likely to have an umbilical hernia. Boys and girls hours after surgery.
are equally affected. Umbilical hernias occur slightly more
frequently in infants of African-American descent. The vast Paraumbilical Hernia
majority of umbilical hernias are not related to any disease A paraumbilical hernia is one that develops around the area
condition. However, umbilical hernias can be associated of the umbilicus. After birth, although the umbilical cord
with rare diseases such as mucopolysaccharide storage disappears, the weakness or gap in the muscle may persist.
diseases, Beckwith-Wiedemann syndrome, Down syndrome Hernias can occur in this area of weakness at anytime from
and others. birth through late adulthood, as the weakness progressively
bulges and opens, allowing abdominal contents to protrude
Clinical Features through. In addition to navel deformity and an associated
A physical examination reveals the hernia. Although often bulge, the signs and symptoms include pain at or near the
appearing at or just after birth, these hernias can also occur navel area.
at any time during later life. The hernia generally appears
as a soft swelling beneath the skin that often protrudes when
Follow-Up
the infant is upright, crying or straining. Depending on the Once the hernia is closed, it is unlikely that it will reoccur.
severity of the hernia, the area of the defect can vary in size, However, the risk of recurrence is increased in patients
from less than 1 to more than 5 centimetres in diameter. who have wound infections following surgery or associated
Small (less than 1 cm) hernias usually close spontaneously connective tissue disorders.
General Paediatric Surgery 235
Physiologic Jaundice children have marked developmental and motor delays in the
form of choreoathetoid cerebral palsy. Mental retardation
Jaundice in healthy, full-term newborns has been termed may also be present. Other sequelae include extrapyramidal
physiologic because hyperbilirubinaemia occurs universally disturbances, auditory abnormalities, gaze palsies and dental
in neonates. Before birth, an infant gets rid of bilirubin dysplasia.
through the mothers blood and liver systems. After birth,
the babys liver has to take over processing bilirubin on its Diagnosis
own. Almost all newborns have higher than normal levels
of bilirubin. In most cases, the babys systems continue to The initial diagnosis of hyperbilirubinaemia is based on the
develop and can soon process bilirubin. However, some appearance of jaundice at physical examination. The child is
infants may need medical treatment to prevent serious often placed by an open window so he/she may be checked
complications, which can occur due to the accumulation of in natural light. Blood samples may be taken to determine the
bilirubin. bilirubin level in the blood.
Total serum bilirubin concentration usually peaks at 512
Treatment
mg/dl on the second or third day after birth. In newborns, the
activity of UDPGT is limited due to immaturity of the liver Most cases of newborn jaundice resolve without medical
enzyme system. At birth, the UDPGT activity level is only treatment within 23 weeks, because most often it is due to
physiologic jaundice. It is important that the infant is feeding
0.11% that of the adult. Activity increases overtime but
regularly and having normal bowel movements. If bilirubin
does not reach adult levels until 614 weeks after birth. As a levels are high, the infant may be treated with phototherapy
result, bilirubin accumulates. Infants lack intestinal bacterial exposure of the babys skin to fluorescent light. The bilirubin
flora, very little bilirubin glucuronide is converted to in the babys skin absorbs the light and is changed to a
stercobilins and urobilins, with the result that both conjugated substance that can be excreted in the urine. This treatment
and unconjugated bilirubin are excreted as the golden-yellow can be done in the hospital and is often done at home with
pigment characteristic of the stools of the newborn. Jaundice special lights, which parents can rent for the treatment.
should be considered non-physiologic or pathologic, if it Treatment may be needed for several days before bilirubin
levels in the blood return to normal. The babys eyes are
occurs less than 24 hours after birth, if bilirubin levels rise
shielded to prevent the optic nerves from absorbing too much
at a rate of greater than 0.5 mg/dl per hour or 5 mg/dl per light. Another type of treatment used is a special fiberoptic
day, if total bilirubin levels exceed 15 mg/dl in a full-term blanket. There is no need to shield the babys eyes with this
infant or 10 mg/dl in a preterm infant, if evidence of acute treatment, and it can be done at home. Light emitted at a
haemolysis exists, or if hyperbilirubinaemia persists beyond wavelength of 425475 nm converts bilirubin to a water-
10 days in a full-term infant or 21 days in a preterm infant. soluble form that can be excreted in the bile or urine without
(However, mild breast-milk jaundice may persist for up to 2 glucuronidation.
weeks in breast-fed infants). Multiple factors can influence the effectiveness of
phototherapy, including the type and intensity of the light
Kernicterus and the extent of skin surface exposure. Special blue
fluorescent light has been shown to be most effective,
Severe hyperbilirubinaemia could result in kernicterus. This
although many nurseries use a combination of daylight,
condition is characterised by bilirubin staining of the basal
white and blue lamps. Recently, fiberoptic blankets have
ganglia and involves diffuse neuronal damage, which results
been developed that emit light in the blue-green spectrum.
in severe neurologic sequelae. Kernicterus rarely occurs
These are effective, convenient forms of phototherapy. The
with unconjugated bilirubin levels lower than 20 mg/dl
intensity of light delivered is inversely related to the distance
(340 mol/L) but typically occurs when levels exceed
between the light source and the skin surface.
30 mg/dl. When levels are between 20 and 30 mg/dl,
Phototherapy acts by altering the bilirubin that is
concomitant conditions such as prematurity and haemolytic
deposited in the subcutaneous tissue. Therefore, the area
disease may increase the risk of kernicterus.
of the skin exposed to phototherapy should be maximised.
Clinically, bilirubin encephalopathy progresses through
three phases. In the first 23 days the infant is lethargic This has been made more practical with the development of
and hypotonic and sucks weakly. Progression is marked by fiberoptic phototherapy blankets that can be wrapped around
hypertonia (especially of the extensor muscles), arching, an infant. Double phototherapy can reduce bilirubin levels
opisthotonic posturing, fever, seizures and high-pitched twice as fast as single phototherapy and can be accomplished
crying. In the final phase, the patient is hypotonic for several by using the combination of a blanket and a bank of lights or
days and then gradually becomes hypertonic. Affected by using two banks of lights.
General Paediatric Surgery 237
Biliary Atresia good and at least initially there is no failure to thrive. Later
signs include splenomegaly (suggesting portal hypertension),
Biliary atresia is a rare disease characterised by a biliary
ascites and haemorrhage (which can be intracranial,
obstruction of unknown origin that presents in the neonatal
gastrointestinal or from the umbilical stump and is due to
period. It is the most important surgical cause of cholestatic
impaired absorption of vitamin K).
jaundice in this age group. The common histopathological
picture is one of inflammatory damage to the intrahepatic and Investigations
extrahepatic bile ducts with sclerosis and narrowing or even
obliteration of the biliary tree. Untreated, this condition leads Ultrasonography
to cirrhosis and death within the first year of life. Surgical On ultrasonography BA is suspected if the gallbladder
treatment usually involves an initial attempt to restore bile is shrunken despite fasting, if the liver hilum appears
flow: the Kasai portoenterostomy, which is performed as hyperechogenic (triangular cord sign), or if there is a cyst
soon after diagnosis as possible. Later, liver transplantation at the liver hilum. There should be no evidence of bile duct
may be needed for failure of the Kasais operation or due dilatation. Syndromic BA infants may show other features
to complications of cirrhosis. BA remains the commonest such as multiple spleens, a preduodenal portal vein, absence
indication for paediatric liver transplantation throughout the of the retrohepatic vena cava, etc.
world. The reported incidence of BA varies from 5/1,00,000 Hepatobiliary Scintigraphy (HIDA Scan)
live births. It demonstrates failure of excretion of the radioisotope into
the intestine. Hepatobiliary scintigraphy using iminodiacetic
Aetiology acid(IDA) radiopharmaceuticals provides clinically useful
The aetiology of BA remains unknown. Some cases seem to information on the function of the biliary tract. Phenobarbital
be related to abnormal morphogenesis of bile ducts occurring premedication (5 mg/kg per day for a minimum of 5 days in
early in gestation, while others appear to arise as a result of divided doses) is used in infants who are being examined for
later perinatal damage to normal developed bile ducts. The neonatal jaundice to increase the accuracy of 99mTc-IDA
role of viruses has been extensively studied. An association scintigraphy in differentiating extrahepatic BA from neonatal
of BA with cytomegalovirus, respiratory syncytial virus, hepatitis. BA can be ruled out in an infant if a patent biliary
Epstein-Barr virus and human papilloma virus has been tree is shown with passage of activity into the bowel. If no
reported, and alternatively, no association has been found radiopharmaceutical is noted in the bowel on imaging up to
with hepatitis A, B and C viruses. Reovirus type 3 can cause 24 hours but with good hepatocyte function it is suggestive
cholangitis resembling BA in mice and may be associated of obstruction of biliary tree. HIDA scan can rule out BA if
with spontaneous BA in the rhesus monkey. In human there is excretion.
neonates, the association of reovirus type 3 and BA has been Magnetic Resonance Cholangiopancreatography (MRCP)
suggested in several studies but not supported in others. Magnetic resonance imaging of the hepatobiliary tree gives
A strictly genetic cause is unlikely although familial cases an idea about the anatomy of the biliary tree and identifies a
of BA have been reported. BA is associated with various choledochal cyst. It is non-invasive but availability and need
congenital anomalies such as polysplenia, asplenia, cardiac for sedation for newborn is an issue.
or intra-abdominal defects (situs inversus, preduodenal portal
vein, absence of retrohepatic inferior vena cava, intestinal Cholangiography
malrotation). In the cases where the gallbladder seems normal on US
scans, cholangiography is needed to assess the morphology
Types of Biliary Atresia and patency of the biliary tree. The cholangiogram can be
performed by open operative technique.
Type 1: Atresia limited to common bile duct (CBD) (3%)
Type 2: Gallbladder, cystic duct and CBD patent (25 %) Liver Biopsy
Type 3: Complete extrahepatic biliary atresia at the level The main features suggesting BA are bile plugs, ductular
of porta hepatis (72%). proliferation, portal oedema and/or fibrosis. As in any other
cause of neonatal cholestasis, giant cell transformation may
Clinical Features be observed.
The clinical triad of BA is jaundice (conjugated, and beyond Other Tests
2 weeks of life), acholic (white) stools and dark urine and Biochemical liver function tests show cholestasis (with
hepatomegaly. The general condition of the child is usually elevated liver enzymes and gamma glutamyl transferase).
238 Hutchison's Paediatrics
(2) Type IVB choledochal cysts consist of multiple dilatations signs and symptoms are more common in infancy, whereas
that involve only the extrahepatic bile duct. manifestations are more subtle and protean in adulthood.
Type V choledochal cysts: This type is characterised Infants frequently come to clinical attention with jaundice
by dilatation of the intrahepatic biliary radicals only and the passage of acholic stools. These infants present with a
with normal bile duct system outside the liver. Often, clinical picture of complete bile duct blockage and jaundice.
numerous cysts are present with interposed strictures that Numerous infants have been noted to have a choledochal cyst
predispose the patient to intrahepatic stone formation, in utero on prenatal ultrasound, but following birth it appears
obstruction and cholangitis. The cysts are typically found that jaundice takes 13 weeks to become evident if this
in both hepatic lobes. Occasionally, unilobar disease is presentation occurs in early infancy, a work up to exclude
found and most frequently involves the left lobe. BA may be initiated. Infants with choledochal cysts can have
a palpable mass in the right upper abdominal quadrant; this
Aetiology may be accompanied by hepatomegaly.
The aetiology of choledochal cyst in its various forms of Children in whom the condition is diagnosed after
presentation is not precisely known. However, the so- infancy present with a different clinical constellation, which
called common channel theory stands out as the most includes intermittent bouts of biliary obstructive symptoms
likely explanation. In almost all instances of choledochal or recurrent episodes of acute pancreatitis. Children in
cyst there is an abnormal arrangement of the pancreatic whom biliary obstruction is present may also have jaundice
and bile duct junction in which the junction is high above and a palpable mass in the right upper quadrant. The
the level of the muscle in the wall of the duodenum, which correct diagnosis is occasionally more difficult in children
controls the direction of flow within these ducts. With an with pancreatitis. Often, the only clinical symptoms are
abnormal pancreaticobiliary duct junction, there is free-flow intermittent attacks of colicky abdominal pain. Biochemical
of pancreatic juice into the CBD extending up to the level laboratory values reveals elevations in amylase and lipase
levels. This leads to the proper diagnostic imaging work up.
of the liver. In the foetus, some of the digestive enzymes in
The so-called adult form of choledochal cyst presents
pancreatic juice may damage the wall of the forming CBD
with frequent complaints of vague epigastric or right upper
resulting in duct dilation (enlargement) and a downstream
quadrant abdominal pain, jaundice, and occasionally a soft
blockage. The reason for the abnormal pancreaticobiliary
mass can be felt in the right upper area of the abdomen.
junction seen in patients with choledochal cyst is likely to
Indeed, the most common symptom in adults is abdominal
be based on genetic or hereditary factors. Additionally,
pain. A classic clinical triad of abdominal pain, jaundice,
choledochal cysts and bile duct abnormalities are much
and a palpable right upper quadrant abdominal mass has
more common in oriental than in other populations, another
been described in adults with choledochal cysts, although
suggestion that hereditary factors are involved. On the other
hand, these abnormalities do not tend to run in families from this is found in only 1020% of patients. Cholangitis can be
part of the clinical presentation in adult patients with biliary
one child to the next, so multiple factors must be involved.
obstruction.
The large number of females is suggestive of a sex-linked
genetic problem.
Complications
Clinical Presentation Choledochal cysts not appearing until adulthood can be
It is common in persons of Asian ancestry, especially those associated with a number of serious complications resulting
of Japanese origin. Choledochal cysts are more prevalent in from long-standing biliary obstruction and recurrent bouts
females. The female-to-male ratio is approximately 3:14:1. of cholangitis. Other complications include cholelithiasis,
Approximately 70% of paediatric patients with severe pancreatitis, hepatic abscesses, cirrhosis, and portal
choledochal cysts have signs or symptoms related to the hypertension. The poor drainage causes infections in the
cyst before they are aged 10 years. A choledochal cyst may bile duct in many patients. Some patients develop repeated
not become clinically apparent until the patient is an adult. attacks of pancreatitis since the pancreatic duct may enter
In many adult patients, sub clinical bile duct inflammation into the bile duct with abnormal junction. If the cyst is not
and biliary stasis have been ongoing for years. Adults removed at the time of surgery then this exposes the patient
with choledochal cysts can present with hepatic abscesses, to future development of bile duct cancer in the wall of the
cirrhosis, recurrent pancreatitis, cholelithiasis and portal cyst. The most worrisome complication of choledochal cysts
hypertension. is cholangiocarcinoma. The reported rate of this malignancy
The clinical history and presentation of a patient with a in patients with choledochal cysts is 1030%. The incidence
choledochal cyst varies with the patients age. Overt dramatic of cancer in a choledochal cyst is 20 times greater than in the
240 Hutchison's Paediatrics
general population. Abuot 20% of the adult population with Ultrasound is non-invasive, it involves no radiation
a choledochal cyst will develop cancer in a cyst if the cyst is exposure, and its findings are sensitive and specific for the
not removed. By the age of 50 years up to 50% of patients diagnosis. Patients with choledochal cysts most often have
will have cancer in the cyst. symptoms referable to the hepatobiliary system, and most
US operators are familiar with the anatomy of this area.
Diagnosis Abdominal US findings can help in detecting associated
conditions and complications of choledochal cysts, such
Blood Tests as choledocholithiasis, intrahepatic biliary dilatation,
No blood test is specific for the diagnosis of choledochal portal vein thrombosis, gallbladder or biliary neoplasms,
cyst; further studies indicate the status of the patient and any pancreatitis and hepatic abscesses; other supportive studies
possible complications. Since the most common sign of a may be ordered, including abdominal CT, MRI or MRCP
choledochal cyst is jaundice, the main finding is an increase in examinations. These studies demonstrate the cyst with more
bilirubin in the blood. At times, in cases of severe cholangitis precise anatomic detail. In addition, important anatomic
or long-standing biliary blockage, patients may show signs of relationships to surrounding structures are better defined than
a decrease in blood clotting. with other modalities (Fig. 11.3).
CT scans of a choledochal cyst demonstrate a dilatated
Radiological Imaging cystic mass with clearly defined walls, which is separate
from the gallbladder. The fact that this mass arises from or
The only sure way to diagnose a choledochal cyst is some
actually is the extrahepatic bile duct usually is clear from
form of radiological study. As mentioned previously,
its location and its relationships to surrounding structures.
prenatal ultrasound frequently identifies a choledochal cyst
The cyst is typically filled with bile, which produces water-
that may be present in the foetus. Immediately following
like attenuation. Depending on the patients age and clinical
birth, the most helpful initial screening study is abdominal
history, the wall of the cyst can appear thickened, especially
ultrasound since this study is capable of showing the entire
if multiple episodes of inflammation and cholangitis have
bile duct system within and outside the liver, the gallbladder
occurred.
and the pancreas.
Use of MRI and MRCP techniques is increasing
Most people feel that in the newborn with jaundice and an
dramatically for the non-invasive diagnosis of biliary and
enlarged biliary tree outside the liver shown on ultrasound,
pancreatic diseases. Choledochal cysts are no exception.
no further diagnostic studies are required preoperatively. In
These cysts appear as large fusiform or saccular masses that
addition to ultrasound examination in the newborn, some
may be extrahepatic, intrahepatic or both, depending on the
physicians also like to obtain a nuclear medicine scan or a
type of cyst. They produce a particularly strong signal on
CT scan.
Because of the subtle clinical presentation of most older
children, this age group may require additional studies,
particularly due to the intermittent nature of jaundice seen
in this age group. In older patients, injections of the bile
duct system with dye (contrast) either through the skin or by
means of a scope placed in the duodenum while performing
X-rays or special MRI techniques may be needed.
In addition to demonstrating the common channel
frequently seen in these patients, these studies are particularly
useful for defining the precise anatomy so that planning an
appropriate operation can be undertaken. At the time of an
operation, X-rays using a contrast injection directly into
the bile duct system (operative cholangiogram) are usually
performed in order to confirm all of the preoperative
findings. It usually does not take very long to obtain all of
the preoperative information necessary to plan operative
correction. While diagnostic studies are being accumulated,
measures are undertaken to make sure the patient is in the
best possible preoperative condition. Antibiotics are usually Fig. 11.3: Magnetic resonance cholangiopancreatography showing
a part of this preparation. choledochal cyst
General Paediatric Surgery 241
Treatment
Once confirmed, inguinal hernias never regress and all
inguinal hernias would need surgical repair as and when
diagnosed. In the Western world, the premature infants with
hernia are not discharged unless the hernia has been repaired,
as the chances of incarceration are very high. For this, an
expert paediatric anaesthetist is required, as anaesthesia
risks may be higher. Postoperative apnea is also common in
premature babies and at times may even require ventilatory
support. In the developing countries, as the facilities for
anaesthesia and the postoperative support for the premature
babies and the newborns are very limited, hence all such
babies should either be referred to a higher centre or the
surgery be deferred till the risk of anaesthesia is low.
There should not be any undue delay in deciding in favour
Fig. 11.5: Bilateral inguinal hernia of surgery as the spontaneous disappearance of inguinal hernia
in the inguinal region, especially when the child cries. The does not occur, risk of incarceration is greater in infants, and
swelling disappears when the child is either calm or goes to the operation is simple with almost 100% success. However,
sleep. A reliable history is usually enough to establish the the surgery is technically more difficult and the risk of injury
diagnosis, although there is no evidence of such an anomaly to the vas and testicular vessels is greater in long-standing
when the baby is presented for examination. and incarcerated hernias.
Diagnosis Herniotomy
On physical examination, cough or cry impulse is the most Herniotomy is performed through an incision in the lower
important sign. A soft bulge that is reducible on digital most transverse inguinal skin crease. In neonates, the inguinal
pressure is also a diagnostic feature. Hernia in neonates canal is not developed and the external inguinal ring lies over
may be transilluminant so it is not a very reliable test to the internal inguinal ring so the incision is limited to the
differentiate it from hydrocoele. medial portion of the skin crease. The sac is identified after
The spermatic cord may feel thickened or rustle on splitting the cremasteric muscles, the contents are reduced
palpation, as the contiguous folds of the peritoneum slide and the sac is transfixed high at the level of the internal
over one another (silk glove sign). Confusion may occur inguinal ring. Herniorrhaphy (repair of the inguinal canal) is
if there is an undescended testis in the inguinal region. A not required in children as the posterior wall is normal and
hydrocoele shows brilliant transillumination, is irreducible strong enough. Bilateral repair can easily be done at the same
and its upper limit is identifiable distal to the external ring. time and should ideally be done in all patients presenting
On eliciting history, a hydrocoele fills from below upwards with bilateral hernias.
while an inguinal hernia appears from above downwards. In infants under the age of one year, the contralateral sac
An encysted hydrocoele of the cord may mimic as an is present in about 50% of cases. The issue of contralateral
irreducible indirect inguinal hernia, but can be distinguished exploration in an ipsilateral hernia is debatable and the
by traction on the testis: the encysted hydrocoele will move opinion varies from centre to centre. Direct inguinal hernia
up and down while an incarcerated hernia is immobile at and femoral hernia require Coopers ligament repair in
the external inguinal ring. Hydrocoeles have a light blue addition to the ligation of the sac.
colour through the skin, while meconium peritonitis with
meconium or blood in the processus will look black or Irreducible Hernia
dark blue. Neonatal hydrocoeles are rarely very tense, and If not treated surgically, inguinal hernias are known to get
the testis within can be felt or at least transilluminated, to complicated with obstruction and even strangulation. It occurs
confirm its normalcy. Other differential diagnoses include when the intestine gets struck at the internal inguinal ring.
testicular torsion, lymphadenitis and torsion of the testicular If it is prolonged, the blood supply may also get hampered
appendices in which the blue dot sign is apparent at the upper to cause strangulation. There is a sudden increase in the size
General Paediatric Surgery 243
C H A P T E R
Paediatric Urology 12
HYDRONEPHROSIS Renal lumpunilateral/bilateral, tense cystic/soft, small/
large
Hydronephrosis reflects an aseptic dilatation of the Painhigh pressure, acute obstruction, infection, stone
pelvicalyceal system as a result of a functional or mechanical Infection, stonerare and requires to rule out VUR/
obstruction at pelviureteric junction (PUJ) or somewhere obstruction
distally. PUJ obstruction is the most common cause of Acute presentationintermittent lump, nausea, vomiting
hydronephrosis, discovered antenatally on ultrasound or (Dietls crisis)
presenting later in childhood. If left untreated, complications Haematuriarare, usually after trauma
may lead to progressive renal insufficiency. Renal failureusually in single kidney with PUJ
General featuresfailure to thrive, anaemia
Hydrodynamics Chance findingantenatal, postnatal on ultrasound/
Urine passes from renal pelvis into ureter by anatomical intravenous urogram or intravenous pyelogram (IVU or
continuity at the PUJ and peristaltic contractions from pelvis IVP).
to ureter. Normal basal pressure in the renal pelvis varies
from 5 to 25 cm of water. An obstruction causes initial rise Investigations
in pressure leading to dilatation. This results in fall of renal Routine haemogram, renal biochemistry
pressure and the equilibrium is maintained for long without Urine examinationmicroscopy and culture
symptoms and the renal damage is slow. Ultrasonography (USG)first modality for anatomical
dilatation. It is mainly operator dependent. It is a good
Aetiology
screening modality of first choice, noninvasive and can
Idiopathic obstructionintrinsic abnormality due to detect ureteric dilatation/bladder or urethra pathology
muscle defect also. It is also helpful to assess the other kidney and
Angulation and adhesions at PUJ differentiate hydronephrosis from other lumpstumors,
Aberrant vessels (20%) multicystic kidney and multilocular cysts. It is useful for
Ureteral stenosis/hypoplasia diagnosis of antenatal hydronephrosis
Polyp, papilloma and valve in the ureter at PUJ Nuclear imagingdiureteric renogram (DTPA) for
Persistent foetal ureteral folds function, clearance and glomerular filtration rate (GFR).
Secondary PUJ due to vesicoureteric reflux (VUR) Diureteric renogram is useful for differentiating the
(510%): Reflux increases urine load on ureter and obstructed from nonobstructed system and provides
pelvis leading to dilatation, onset of infection leads to individual renal function. It is now the ideal investigation
periureteritis fibrosistrue obstruction. for screening and for follow-up evaluation. The grading
on the diureteric scan is normal function, if function is
Clinical Presentation 40% or more, moderate function between 10 and 40%
Patients with congenital hydronephrosis due to PUJ may and poor function less than 10%
remain asymptomatic throughout their life. However, they Antegrade pyelography, if there is doubt in the diagnosis
may develop symptoms at any stage depending on the degree of PUJ or in suspected cases of vesicoureteric junction
and duration of obstruction. obstruction
Paediatric Urology 245
Obstruction
If obstruction develops at the PUJ, it can be managed
by leaving the stent or the nephrostomy tube in place for
long, until the infection clears and the PUJ opens up on
a nephrostogram. For obstruction which persists, attempt
should be made to place a double J stent from below. If these
measures fail, allow the area to heal for 1012 weeks before
contemplating a redo pyeloplasty. With the availability
of endourologic intervention procedures, many cases of
obstruction are now amenable to endoscopic retrograde
Fig. 12.1B: Anderson-Hynes pyeloplasty procedure in process stenting, balloon dilatations or percutaneous incisions of
strictures at PUJ.
useful in cases of high insertion of the ureter and presence
of lower polar crossing vessels. The technique allows a Redo Cases
complete excision of the abnormal segment of the upper For a case of redo pyeloplasty, emphasis is on gaining
ureter, excision of the redundant pelvis, a dependent drainage an adequate surgical access for a wide variety of surgical
and a wide pelviureteric anastomosis. options. If the procedure is being done within first week
or so of the initial pyeloplasty, same incision is reopened.
Choice of Drains
A transperitoneal anterior approach may be preferred for
Following PUJ repair, the need for postoperative urinary all difficult redo cases and so also for the PUJs associated
drainage and the choice of placing a nephrostomy tube, with giant hydronephrosis, horseshoe kidney, duplex
double J stent or a single transanastomotic stent (TAS) hydronephrotic moiety, cross-fused renal ectopia and
has always been controversial. Whereas the use of internal the pelvic kidney. It offers a direct and wide access to
J stents or the nephrostomy drainage needs to be carefully the complicated and an anatomically abnormal PUJ. The
individualised, the perirenal area is always drained with a possible redo procedures include repeat pyeloplasty,
corrugated drain or a closed suction drain. This prevents any ureterocalicostomy, ureteric replacement by appendix or an
collection around the anastomosis, sepsis and scarring. It is ileum, autotransplantation or even nephrectomy.
brought out either through the lateral part of the main wound
or a separate stab skin incision. Ureterocalicostomy
Anastomosis of the proximal ureter directly to the lower
Complications pole calyceal system is best suited as a salvage procedure for
cases with the difficult redo pyeloplasty. Also in the patients
Bleeding
on prolonged nephrostomy drainage, the identification of
Bleeding is common after nephrostomy drainage. Bleeding the renal pelvis becomes very difficult due to shrinkage and
can jeopardise the repair by formation of clots. Slight scarring. In such situations, the choice is to anastomose the
haematuria settles down gradually in next few days. A frank lower pole calyx with the available ureter after excising the
bleeding requires an immediate exploration. Irrigation of overlying renal parenchyma. This procedure is, therefore,
the nephrostomy tube should be avoided, as it introduces best suited for kidneys with a large, dilated lower pole
infection and can disrupt the suture line. calyx with overlying thinned out parenchyma. Sufficient
cortex must be removed to protect the proximal ureter from
Urine Leak entrapment. The calyx must also be partly mobilized to
Urine leak may occur within the first 24 hours. Drainage create a tension free anastomosis.
lasting over a week is of concern, because subsequent In cases of horseshoe kidney with hydronephrosis,
peripelvic and periureteral fibrosis harms the anastomosis although an extraperitoneal flank approach is enough for the
Paediatric Urology 247
function. All patients after bladder closure are put on Inguinal Hernias and Undescended Testes
antibiotic prophylaxis to prevent UTI and scarring of kidney.
There can be bilateral inguinal hernia and undescended testes
Reimplantation of ureter is done during bladder neck repair
due to abnormal muscle development of anterior abdominal
or augmentation surgery.
wall. These need correction later. Undescended testis (UDT)
Pubic Diastasis is thought to be due to unclosed bladder creating reduced
abdominal muscle.
Separation of the pubic bones which does not allow the
bladder to remain inside the body and can cause waddling Genital and Reproduction Problem
gait.
The fertility in males is questionable although they are not
Small Bladder Capacity impotent and is due to retrograde ejaculation or scarred or
damaged vas deferens. Almost all females are able to have
All exstrophy of bladders are small at birth, some smaller children but will need caesarean section for delivery due to
than others. The extent to which the bladder will grow adherent uterus abnormal uterovaginal angle.
cannot be definitely determined. Successful bladder closure
and epispadias repair increase urethral resistance and help Investigations
the bladder to grow. If the balder capacity does not improve
X-ray of the pelvisto know the degree of pubic diastasis
and the intravesical pressure remains high the patient will
Ultrasonogramit diagnoses renal anomaly, hydro
need to increase the size of the bladder by augmentation
ureteronephrosis and renal damage due to reflux, bladder
surgery using a patch of colon, stomach or ileum. After
capacity and post-void residue after the bladder closure
augmentation few complications may be encountered. The
Renal isotope scannuclear imaging include DTPA for
spectrum of complication observed is electrolyte imbalance,
drainage pattern and differential renal function, DMSA for
acid-base imbalance, impaired sensorium, altered hepatic
renal scars due to reflux and GFR for global renal function
metabolism, abnormal drug metabolism, growth retardation,
Micturating cystourethrogramdone after the bladder
bone disorder and malignant changes.
closure to know the bladder contour, capacity, VUR,
urethral profile and post-void residue
Incontinence of Urine
Urodynamic studyto know the bladder capacity, bladder
The bladder neck and sphincter complex are not well formed pressure, compliance, detrusor sphincter coordination,
in these patients and hence they have incontinence of urine. uroflometry, post-void residue, etc.
After bladder closure and epispadias repair the continence
slowly improves with time. If it does not improve, then Treatment
bladder neck repair surgery has to be done around 35 years. The treatment is only surgical. The primary goals of
Some children may require clean intermittent catheterisation reconstruction are:
to adequately empty their bladders. Use of agents like Closure of the bladder and urethra
collagen, silicone and other substances, which can now be Closure of the abdominal wall
injected at the neck of the bladder may help to increase Preservation of kidney
resistance and to improve the continence. Good urinary continence
Sexual function
Bladder Stones Improved appearance of genitalia.
The incidence of stone formation varies incidence range from
10 to 25% and up to 52% after augmentation cystoplasty. Staged Repair
The predisposing factors are chronic bacteriuria, urinary There are usually three stages of reconstruction. The goal of
stasis, immobility and mucus production, and metabolic this staged reconstruction is to have patients with a normal
abnormality, foreign body like sutures, catheters and urinary tract, satisfactory external genitalia and adequate dry
staples. intervals.
1. 1st stage: Closure of bladder and abdomen (2448 hours
Urinary Tract Infections of life)
They are prone for urinary infection due to VUR, repeated 2. 2nd stage: Epispadias repair (23 years)
catheterisation or mucus production after augmentation with 3. 3rd stage: Achieve urinary continence by bladder neck
bowel. repair and augmentation (45 years).
Paediatric Urology 249
genital ridges through a gap in the abdominal wall musculature or malplaced gubernaculum, obstruction of inguinal canal or
to the genital swellings which will develop into the scrotum. scrotum or the shortened vas and/or vessels.
Primordial germ cells from yolk sac migrate along the dorsal
mesentry of the hind gut to reach the genital ridges. Sequelae of Nondescent
During the 7th week, under the influence of H-Y antigen, Infertility: The higher temperature of the extrascrotal
the indifferent gonads differentiate into foetal testes. testis causes testicular dysplasia with interstitial fibrosis
Foetal testis becomes normally active by the 8th week, and poor development of seminiferous tubules thus
secreting testosterone and Mllerian-inhibiting substance hampering the spermatogenesis. Testosterone production
(MIS). MIS is secreted by foetal Sertoli cells stimulated by is unaffected by the testicular position, thus a male with
FSH from pituitary and causes regression of the Mllerian bilateral undescended testes will develop secondary
ducts. sexual characters yet may be sterile.
During the 10th15th week, testosterone produced Trauma: The testis in inguinal region is also more prone
by Leydig cells stimulate differentiation of wolffian to direct trauma.
duct to form the epididymis, vas deferens and seminal Torsion: The chances are greatest in the postpubertal
vesicle. Leydig cells are stimulated by placental choronic period when testis usually increases in size.
gonadotropin and pituitary LH. Differentiation of external Neoplasia: The most serious complication due to the
genitalia depends on the presence of 5-alpha-reductase, associated dysplasia existing in the testis is a higher
which converts testosterone to dihydrotestosterone (DHT). chance of malignancy if left untreated (1020 times on
The processus vaginalis forms as a hernial sac through the affected side and about 7 times on the contralateral
the weakness in the abdominal wall adjacent to the side). The risk of malignant degeneration is although not
gubernaculum and gradually extends into the scrotum. The altered by doing an orchiopexy, yet few workers now
process of testicular descent remains dormant until the 7th have indicated that an early orchiopexy before 1 year
month of gestation. of age or so may actually decrease the incidence of
At the 7th month, the gubernaculum increases in size, malignancy. Malignancy, usually a seminoma, develops
distending the inguinal canal and scrotum. The testis then only in the second or third decade of life.
descends through the inguinal canal into the scrotum. Hernia due to patent processus vaginalis.
Epididymis, attached to gubernaculums, precedes the testis Atrophy results in untreated cases.
in its descent into the scrotum. Feeling of incompleteness psychologically.
Thus, the normal descent of testes occurs at about the On examination, always look for a hernia. The position
7th month of foetal life when the gubernaculum swells and and the size of the testis should be noted, if impalpable,
shortens, drawing the testis through the inguinal canal into ectopic locations of the testis should be examined. There
the scrotum. are many associated anomalies that are quite common with
After the descent, gubernaculum persists as fibrous band, UDT: intersex disorders, prune belly syndromes, exstrophy
the gubernacular ligament. Processus vaginalis is completely bladder, spina bifida posterior urethral valves and prune
obliterated prior to birth. belly syndrome (Fig. 12.3). Any child with unilateral or
bilateral UDT associated with hypospadias, needs to be
Factors Responsible for Testicular Descent investigated for intersexuality by performing chromosomal
analysis, hormones assessment, genitogram and the tests
Traction of the testis by the gubernaculum or cremaster
to confirm the presence or the absence of the Mllerian
muscle or both
structures.
Differential body growth
Increase in intra-abdominal pressure Histological Changes
Development and maturation of the epididymis
Changes resulting from androgen environmentmilieu, Pathological changes may occur as early as 6 months.
directly or indirectly mediated through the spinal nucleus Impaired Leydig cell development has been shown as early
of genitofemoral nerve innervating the gubernaculum as 26 months, whereas sertoli and germ cells appeared
which stimulates the release of calcitonin gene-related normal. There could be delayed germ cell maturation,
peptide (CGRP) reduced germ cell number and hyalinisation of seminiferous
Role of oestrogen and MIS. tubules. These changes are reversible up to 2 years of age.
Failure of the descent may occur due to the hormonal Histologic changes in cryptorchid testis include degeneration
failure (inadequate gonadotropins and testosterone), of mitochondria, loss of ribosomes, increase in the collagen
dysgenetic testis or an anatomic abnormality such as abnormal fibres in the spermatogonia and Sertoli cells.
Paediatric Urology 251
Treatment
The histological changes in the testes occur as early as 6
months of postnatal life and therefore, a child who has an
UDT should be operated at the earliest to prevent them. The
best time for orchiopexy is about 1 year of age, but where
facilities of surgical expertise and paediatric anaesthesia are
available, it may be considered even before 9 months of age.
A still early surgical procedure is usually associated with
higher complication rate with injury to the vessels and the vas
(23%). Figure 12.4 outlines the algorithm for management
of impalpable undescended testes.
Methods of Orchiopexy
Extra-Dartos Pouch-Conventional Orchiopexy
An inguinal incision is made, the hernial sac is dissected
from the cord structures and a high ligation of the sac
is done. The testis is placed in an extra-dartos pouch in
the scrotum; an adequate dissection should be done to
avoid tension on the pedicle while placing the testis in
scrotum. Any torsion of the pedicle should be avoided.
Fig. 12.3: Prune belly syndrome Retroperitoneal dissection and careful snipping off of
lateral peritoneal bands will give an adequate length to the
cord.
If the testis does not reach the scrotum easily then the
inferior epigastric artery and vein can be ligated and the
testis brought directly through the transversalis fascial floor
(Prentiss manoeuvre).
Transcrotal Orchiopexy
It is performed through a skin crease incision in the neck of
the scrotum. High ligation of processus vaginalis, dissection
of the spermatic cord and placement of the testis in an
ipsilateral subdartos pouch constructed through the same
incision is done. Advantage includes minimal dissection
through a single incision and avoidance of disruption of the
inguinal canal.
Fowler-Stephens Technique
It comprises of division of the main testicular vessels and
relies on delicate vasal and cremasteric collaterals for
testicular survival and growth. It is associated with 50100%
atrophy rate.
waiting, at 2nd stage, the testis can be brought into scrotum in level of testosterone. A less than 20-fold rise is indicative
by inguinal exploration. The testicular blood supply is of anorchism and surgery is not indicated in these patients.
supported by the artery to the vas. These days, laparoscopy is a much better modality for this
purpose.
Multistage Orchiopexy HCG is also used to achieve partial or complete descent
The testis is mobilised and brought into the inguinal canal as of UDT and the secondary benefits for redo cases, i.e. for
far as possible. The testis and spermatic cord are wrapped the enlargement of the testicular volume, the vessels and the
with a silicone sheath to prevent adhesions. After 1 year scrotum. Under the HCG effect, the spermatic vessels become
waiting, at 2nd stage, the testis is brought down to the more pliable and the length of the cord is also increased. The
scrotum. scrotum becomes more capacious. The results following the
hormonal therapy are known to be better if the testis is low-
Microvascular Orchiopexy lying (inguinal or high scrotal), retractile, unilateral, good in
(Testicular Autotransplantation) volume and in boys above 8 years of age. Since, the therapy
is effective in only 2030% cases, it is not widely used.
Microvascular transfer of testes is the best procedure
to avoid atrophy of the testis but it needs great surgical Laparoscopy
expertise and the equipment. This procedure involves high
Paediatric laparoscopy has evolved as an important tool in
mobilisation of the testicular vascular pedicle and also
the search for the impalpable testis. Laparoscopy has 95%
carefully safeguards the vas and vasal collaterals. Following
sensitivity for locating a testis or proving it absent. It seems
division of the blood supply, the testis is transferred to the
to offer a safe and reliable diagnostic and therapeutic option
scrotum and immediately revascularised by one arterial and
to patients with impalpable testis.
one or two venous anastomosis to the inferior epigastric
Intra-abdominal detection allows more testes to be
vessels. In expert hands, a success rate of over 8090% is
brought down to the scrotum. Laparoscopy obviates the need
now possible.
for groin exploration in many cases.
Technically a 1st stage Fowler-Stephens procedure
Refluo Technique
can be performed easily and effectively with the help of a
It consists of full venous drainage by microvascular laparoscope.
anastomosis of the testicular vein to the inferior epigastric If the testicular vessels are seen to end blindly this
vein, but relies on the arterial input from the vasal signifies that the testis is absent on that side and that no
collaterals. surgical exploration is necessary. If the vessels are seen to
enter the internal inguinal ring, an inguinal exploration or
Ombredanne Procedure laparoscopic assisted orchiectomy or orchiopexy is required.
The testis is put into the contralateral scrotal sac through the If the testis is seen in the abdomen a decision may be
scrotal septum. made either to perform an extra-abdominal exploration and
In cases of impalpable testis, in about 50% a useful attempt to place the testis in scrotum or to clip the testicular
testis can be brought down and in the other 50% there is vessels and perform an orchiopexy at a later date.
either possibly a testicular agenesis or atrophy due to the
intrauterine torsion resulting in the vanishing testis. A useless Complications of Orchiopexy
and potentially neoplastic testis must be removed. If the testis Failed orchiopexy
is difficult to be brought to the root of the scrotum, it should Recurrence of undescent due to inappropriate choice of
be brought down as much as possible but without any tension surgical technique
and fixed, possibly to the pubic tubercle to make it easily Testicular re-ascent: Testis becomes tethered to the
palpable for detection of enlargement, if any. operative scar and retracts out of the scrotum over time
with increasing body growth
Role of Hormones Testicular atrophy
Hormones, human chorionic gonadotrophin (HCG) and Vas and vessel injury.
gonadotrophin-releasing hormone (GnRH) therapy play
Indications for Orchiectomy
multiple roles. Hormones, mainly the HCG, have been
used for the detection of anorchia in cases of impalpable Malignancy
testis. In cases of bilateral UDT, an HCG test (1,000 IU on Testicular atrophy
alternate days for 3 injections) is performed to see change High intra-abdominal testis that cannot be brought down.
Paediatric Urology 253
retrograde genitourethrogram (RGU) to evaluate them for single urogenital sinus. Vaginal orifice is not visible in
any evidence of presence of the Mllerian structures. the perineum. Chromosomal pattern is 46,XY with no
The development of the embryo is quite complex and mosaicism.
takes place under the influence of sex chromosomes and There are two important subtypes of this disorder:
hormones into a male or a female foetus with normal internal a. Testicular feminisation syndrome (TFS) (complete or
and external genitalia. lt is the presence of Y chromosome incomplete)
that induces masculanisation on the female foetus, possibly b. 5-alpha-reductase deficiencyin these, the baby is
under the influence of H-Y antigen, testis determining factor phenotypically a female with both the gonads in the labial
(TDF), anti-Mllerian hormone (AMH) and SRY gene. folds.
Any chromosomal abnormalities, failure of migration of The vaginal orifice may be visible in the vestibule.
the primitive germ cells from the yolk sac to the urogenital The other sib may also be affected. There is either
ridge, absence of the production of anti-Mllerian substance the androgen receptor failure or due to the enzymatic
(from the sertoli cells) and testosterone (produced by Leydig deficiency, testosterone is not converted into DHT.
cells), overproduction of androgens in the females and finally The serum testosterone levels remain normal although
the lack of the androgen receptors, especially in the genital part of it is converted to oestradiol resulting in breast
tissues, may affect the chain of sequence of development and development at puberty. The serum DHT level, if
lead to an abnormal development of genitalia in the newborn. measured, would be found low. So far it is not possible
to differentiate these two subtypes in our setup as the
Classification facilities to estimate testosterone/dihydrotestosterone (T/
Recently, the Lawson Wilkins Paediatric Endocrine DHT) ratio are not there.
Society (LWPES) and the European Society for Paediatric 2. Congenital adrenal hyperplasia (CAH): Mostly it is due
Endocrinology (ESPE) have proposed changes to the to the deficiency of 21-hydroxylase in over 90% cases
nomenclature and definitions of disorders in which the resulting in excess of 17-hydroxyprogesterone (17-OHP)
development of chromosomal, gonadal or phenotypic sex is in a female baby with 46,XX. There is varying degree
atypical (Table 12.1). This terminology mainly reflects the of clitoral enlargement and a large urogenital sinus. The
chromosomal sex or the gonadal tissue associated with the vaginal orifice may be completely hidden under the skin
disorder. fold. The next common deficiency of 11-beta-desmolase
enzyme results in excessive vomiting and a serious salt
Clinical Evaluation loss and even deaths may occur within few days after
birth.
The clinical evaluation is based on the knowledge of the five 3. True hermaphroditism (TH): Apart from the ambiguous
main types of intersex disorders: genitalia, there has to be an ovarian as well as a testicular
1. Male pseudohermaphroditism (MPH): This is the most tissue in the same child. There is a single urogenital
common disorder and accounts for more than 50% cases sinus. Vaginal orifice is mostly covered with the skin
of intersex disorders. The gonads are testis. These are flap. The scrotum develops only if the gonad has reached
symmetrical, although may be undescended unilaterally it. Phallus is usually well developed but could be tiny.
or bilaterally. There is always a vaginal pouch but never The phallus is usually triangular in shape. The single
a uterus. Phallus may be small or normal in size. There meatus is wide. The presence of a dumb-bell shape of a
is scrotal or perineoscrotal hypospadias with a large gonad with double consistency (if palpably descended),
unilateral or bilateral is diagnostic of TH. The ovarian
Table 12.1: Old and revised nomenclature of disorders of sexual
component is firmer and the testis is softer. Most of TH
development
cases are 46,XX while only 1015% cases are 46,XY
Old nomenclature Revised nomenclature
and only a few have mosaicism.
Female pseudohermaphrodite 46,XX DSD In TH, there could be various forms of combinations
Male pseudohermaphrodite 46,XY DSD of the internal gonads resulting in a pair of ovary and
True hermaphrodite Ovotesticular DSD testis, testis/ovotestis, ovary/ovotestis and bilateral
Mixed gonadal dysgenesis/XX male 46,XX testicular DSD, ovotestis. Usually the ovarian gonads are abdominal in
46,XY DSD or sex location and is accompanied by a fallopian tube while
chromosome DSD if there the testis descends into the scrotum depending on the
is mosaicism (45,X/46,XY) testicular volume and maturity and has vas as the draining
Pure gonadal dysgenesis/XY sex 46,XY complete gonadal duct. Regarding ovotestis, the descent and the draining
reversal dysgenesis
duct will depend again on the amount of testicular
Paediatric Urology 255
component in it; if testis is the major component, the Hormonal assessment (17-OHP, 24-hour urinary
ovotestis may fully descend in the scrotum or become ketosteroids testosterone, LH and FSH, oestradiol)
palpable anywhere along the course of the descent of the Laparotomy or laparoscopy, if possible
testis, with the vas as the draining duct. However, there USG for kidneys, adrenals, uterus and gonads
would never be both the vas as well as the fallopian tube MRI scanning is useful to delineate details of various
on the same side of ovotestis. pelvis structures and also to differentiate the ovary from
In TH, uterus is present in about 90% cases but mostly the testis.
it is hypoplastic and cord like. Uterus may be bulky only In general, a 46,XY is the most common pattern of
in 1015% cases. In such children, at puberty, there may chromosome found. It suggests that the intersex disorders
be cyclic haematuria and bilateral breast development, could be an MPH (all types), TH (1015% cases), MGD and
due to the oestrogen effect from the ovary. Detection of DMP. The cases with the 46,XX pattern are either CAH (all)
high values of oestradiol (due to the presence of ovarian or TH (80%). Presence of Y line with a mosaicism suggests
gonad) on hormonal evaluation in a male child would an MGD or DMP in most of cases.
strongly favour the diagnosis of TH. Testosterone values An RGU establishes not only a vaginal pouch but may
may be normal or low depending on the amount of also reveal a cervical indentation, suggestive of presence
normally functioning testicular tissue. of uterus. Rarely, the dye outlines the uterine cavity,
4. Mixed gonadal dysgenesis (MGD): There is ambiguity of fallopian tube(s) and may even spill into the peritoneal
external genitalia with usually a tiny phallus. The vaginal cavity suggestive of existence of Mllerian structures. The
and the urethral openings are usually been separately in presence of uterus can also be made on PR examination and
on USG. An advanced bone age is suggestive of CAH. USG
the vestibule. The scrotum is very poorly developed.
is routinely performed for the evaluation of the renal tract,
The internal gonads include a testis on one side and a
internal gonads, uterus and adrenal glands.
small, flat, shiny streak gonad on the other side (usually
Hormonal evaluation is of particular importance in CAH,
on left side but may be on right side in 20% cases). The
TFS and TH. A 45 time or more rises in levels of 17-OHP
testis is dysgenetic and usually abdominal in location and
is very suggestive of CAH. A normal value of oestradiol
usually does not descend unless better developed. The
in the presence of normal testosterone levels, is suggestive
uterus is always present, and is usually hypoplastic. The
of presence of an ovarian source as in TH. Similarly,
chromosomal pattern may be 46,XY/XO/XXO and the T/DHT ratio is changed in MPH group of patients with
mosaicism is the most common finding. 5-alpha-reductase deficiency, resulting in low levels of DHT,
5. Dysgenetic male pseudohermaphrodite (DMP): The although testosterone levels remain normal. In TFS, part of
clinical picture resembles that of MGD. However, in testosterone may be converted into oestrogens and result in
DMP, as both the gonads are always dysgenetic, fail to breast development.
descend and remain abdominal in location. The scrotum
is always hypoplastic. The uterus is also present. Phallic Factors for Sex Assignment
size is also variable. The abdominal gonads are rounded,
It is the most crucial decision in an intersex child and is based
yellowish and soft. The draining ducts resemble either
on the information available on clinical evaluation (specially
the fallopian tubes or look like epididymis.
the phallic size and gonadal pattern) and the investigations.
Based on the background knowledge of individual type of The genetic sex does not matter and plays no role in sex
intersex disorder, the clinical evaluation includes: assignment of a child.
Size of the phallus In the Indian society, the subject should be discussed
Meatal location, urogenital sinus if any in confidence with the parents and grandparents and the
Bifid or hemiscrotum with or without rugosities merits and demerits of each type of sex assignment should
Palpable unilateral or bilateral gonads be explained in detail, in terms of surgical options, fertility,
Presence or absence of uterus on per rectal (PR) phallic reconstruction and vaginoplasty, need for hormonal
examination, ultrasound, CT, MRI or surgery supplementation insertion of testicular prosthesis and
Dumb-bell shape of the gonad with dual consistency development of malignancy.
Pubic hair, breast enlargement, abdominal mass. The surgical optionsthe points of considerations
The main investigations include: include:
Chromosomal analysis It is easier to convert an intersex child into a female
RGU, USG and bone age rather than into a male.
256 Hutchison's Paediatrics
Fertility has not been reported in a male with any type of and maintenance of secondary sexual characters. All TFS
intersex problem, although few females have produced cases should be reared as female as the phallus is always very
children. tiny. The gonads are usually well developed and the labial
Presence of a Y line (on chromosomal analysis) is folds are quite prominent. The female sex assignment sexual
associated with a high degree of malignancy (75% after 26 characters to develop in patients with TFS require:
years of follow-up). Hence, any abdominal (dysgenetic) Removal of both the gonads, so that the labia shrink in
testis with XY line must be removed latest by 12 years of size
age. Clitoroplasty with exteriorisation of vagina
It is easier to convince the parents and change the sex of Oestrogen supplementation at puberty to have develop
rearing if the patient is under 1 year of age ment of secondary sexual characters.
The Indian parents prefer to have an inadequate male As there is no uterus in TFS patient, neither they can
rather than an inadequate female to sustain the various have cyclic bleeding nor can they be fertile. There are also
types of pressures of the society (marriage, livelihood, differences of opinion regarding the timing of removal of the
support). gonads. Surgeons in USA and France prefer to remove both
In older children, the assignment of sex is dictated by the the gonads in infancy and prime the child with oestrogens
size of phallus and the type of internal genitalia. at puberty. We have been following a policy of removing
If the phallus is adequate, a male sex is assigned and the one gonad (from better developed hemiscrotum) completely
"male genitoplasty" is undertaken in stages. It includes: in infancy and fixing the other gonad into the anterior
chordee correction and urethroplasty abdominal wall with the presumption that an endogenous
removal of an unwanted intra-abdominal gonad oestradiol would continue priming the baby till puberty for a
biopsy of an inguinal or a scrotal testis near normal type of development of psychological behaviour
insertion of testicular prosthesis (unilateral and and secondary sexual characters. Also the re-fixing of the
bilateral) gonad allows the labial fold to shrink in size. As there is
removal of uterus and/or ovary (as in TH) an 8% risk of malignancy in the testis, it is removed near
bilateral mastectomy puberty and the patient is put on oral oestrogens.
testosterone supplementation near puberty to allow There have been instances when parents insist that
secondary sexual characters to develop. despite a phenotypically female child, a TFS patient should
If there is a complete set of ovary, fallopian tube and be assigned a male sex at all costs. Although a TFS patient
uterus with or without adequate phallus, it is desirable has 46,XY pattern, well developed and symmetrical gonads
to assign female sex and the female genitoplasty is in the scrotum, yet the phallus is tiny and remains a major
done as follows: problem for reconstruction. There is also an 8% risk of
clitoroplasty or clitoral recession developing malignancy of the gonads. Under the influence
exteriorisation of vaginal orifice of oestradiol, bilateral breast development occurs at puberty
removal of unwanted gonad (as testis in TH) and there is no response to testosterone injections. Hence,
hormonal supplementation (progesterone and male sex should not be assigned in TFS patients. However,
oestrogens) the MPH patients have a chance of phallic enlargement near
near puberty to allow the secondary sexual characters puberty under the testosterone therapy.
to develop. All CAH patients should be reared as female. They
In the presence of unilateral or bilateral dysgenetic testis need first the suppression of adrenals with the steroids and
(abdominal location) and a tiny phallus, it is preferable to when the 17-OHP is within the normal range, they need the
assign female sex and undertake the followings: followings:
removal of internal dysgenetic testis (as in MGD and Clitoroplasty or clitoral recession
DMP) Exteriorisation of the vaginal orifice
clitoroplasty and vaginoplasty Vaginal replacementif required to be done at puberty
cyclic hormonal therapy with progesterone and Flourocortisoneflorinef (for salt loosing type of CAH
oestrogens at puberty to prime the uterus for cyclic only).
bleeding. Clitoroplasty should not be performed in an uncontrolled
However, if the phallus is adequate, a male sex can still CAH. Also if the compliance to steroid intake is poor, there
be assigned and the dysgenetic gonads be removed. The child is a significant risk for the clitoral re-enlargement even
would need testicular prosthesis for psychological reasons and after the clitoroplasty has been done. An annual follow-up
the testosterone supplements at puberty for the development for assessment of 17-OHP, bone age, height and weight
Paediatric Urology 257
is mandatory to regulate the steroid doses and prevent its Table 12.2: Revised nomenclature of disorders of sexual develop-
toxicity. Fertility has been reported in about 50% of the ment and chromosomal pattern
controlled CAH cases.
Revised nomenclature Chromosomal pattern
During the past 30 years, at the paediatric intersex clinic at
46,XX DSD 46,XX
AIIMS, 532 patients with various types of intersex disorders
46,XY DSD 46,XY
(MPH-219, CAH-107, TH-35, MGD and DMP-43, PMDS-
46,XX80%,
5 and others 132) were managed. Their ages presented from Ovotesticular DSD 46,XY or mosaicism
newborn to adults. After preliminary investigations, proper (45,X/46,XY)1020%
sex was assigned taking into considerations the development 46,XX testicular DSD, 46,XY Mosaicism (45, XO/46, XY)
of the external and internal genitalia, sex of rearing already DSD or sex chromosome mostly, 46, XX, 46, XY
assigned, the will of the patient (if possible) and the parents DSD if there is mosaicism
or the grandparents. Decision to assign a particular sex was (45,X/46,XY)
never imposed on the parents or the patient. Appropriate 46,XY complete gonadal 46, XX, 46, XY, 46, XO
surgical procedures were conducted in stages if so required. dysgenesis
Parents and the patients were duly counselled for possibility is both the diagnostic as well as the therapeutic and cannot be
of marriage and fertility. Regular follow-up was maintained underestimated if there is doubt about the diagnosis.
for assessing the cosmetic results, psychosocial behaviour In summary, the management of intersex cases is aimed at:
and hormonal management. Assigning a sex of rearing as early as possible
Cosmatic reconstruction of genitalia (male or female)
Mental Health Concerns in Children Followed up Making them capable of sexual performance (a phallic
with Intersexuality reconstruction or a vaginoplasty)
The child with hypospadias and undetermined sex is Development of secondary sexual characters, appropriate
uncommon and quite poorly understood. It is estimated for the sex assigned
that due to the limited facilities available, mostly in the Hormonal manipulations, as and when needed
metro cities, most of the children with intersex disorders Psychosocial adjustment and rehabilitation in the society
are either never diagnosed or mismanaged. The purpose of Fertility, although possible, has been reported only in a
this abstract to include the experience from the paediatric few females in CAH and rarely in true hermaphrodites.
intersex clinic at AIIMS since 1980 on the mental health No intersex male patient with Y cell line has ever been
concerns in children under treatment for various types of fertile.
intersex disorders.
Intersex children need to be diagnosed with a team Chromosomal Evaluation
approach. A detailed clinical assessment aided karyotyping, With the revised nomenclature, it is very easy to remember
RGU, USG, laparoscopy and hormonal measurements, helps the chromosomal pattern (Table 12.2). The presence of Y
in arriving at a working diagnosis in almost 90% cases of fluorescence should alert the clinician for the possible future
intersex disorders. The role of laparoscopy and the laparotomy risks of malignancy.
Devendra K Gupta, Shilpa Sharma, Robert Carachi
C H A P T E R
Paediatric Oncology 13
Wilms' TUMOUR Pathogenesis
Nephrogenic rests are thought to be precursor lesions to WT.
Introduction Nephrogenic rests have been defined as a focus of abnormally
Wilms' tumour (WT) or nephroblastoma is the most persistent nephrogenic cells. These rests are found in 1%
common type of renal malignancy that affects children. It of unselected paediatric autopsies, 35% of kidneys with
is an embryonal tumour that develops from remnants cells unilateral WT and nearly all kidneys with bilateral WT.
of immature kidney. The condition is named for Carl Max It has been postulated that in most people these rests
Wilhelm Wilms', a 19th century German surgeon, who wrote resolve but in some, can give rise to WT.
one of the first medical articles about the disease in 1899.
Molecular Genetics
Epidemiology Wilms' tumour appears to primarily result from loss of
The overall annual incidence is approximately 8 per million certain tumour suppressor genes as opposed to activation of
children less than 15 years of age. It accounts for 67% of oncogenes.
all childhood cancers. The mean age of presentation for Several chromosomal regions have been implicated with
unilateral disease is 3.5 years and for bilateral disease, 2.5 development of WT:
years. The tumour presents at an earlier age among boys. Band 11p13WT1, WT suppressor gene, may explain
associations with WAGR and Denys-Drash syndromes
The disease occurs with equal frequency in girls and boys
Band 11p15WT2, may explain associations with
worldwide. WT has been linked to various genetic syndromes
Beckwith-Wiedemann syndrome.
and birth defects such as:
WAGR syndrome (WT, aniridia, ambiguous genitalia Pathology
and mental retardation)
Beckwith-Wiedemann syndrome (macroglossia, Wilms' tumours are mostly solitary lesions but can be
gigantism and umbilical hernia) multifocal in 12% cases.
Denys-Drash syndrome (WT, pseudohermaphroditism
Gross Appearance
and glomerulopathy)
Children with these genetic syndromes should be Uniform pale grey or tan colour on section, but can give
screened for WT every 3 months until the age of 8 years. An a variegated appearance due to haemorrhage and necrosis.
ultrasound test may be used for screening. They are usually sharply demarcated and are surrounded by
Wilms' tumour has also been linked to various birth a distinct intrarenal pseudocapsule composed of compressed
defects such as: atrophic renal tissue. Cysts are also commonly encountered.
Hemihypertrophy
Cryptorchidism Histology
Congenital aniridia Wilms' tumour is composed of three cell types:
Hypospadias 1. Blastemal: Undifferentiated small blue cells.
Paediatric Oncology 259
Investigations
Laboratory Studies
Complete blood count
Basic metabolic profile
Coagulation assay (acquired von Willebrands disease in
8% patients)
Urinalysis
Imaging Studies
Ultrasound
Initial diagnosis of a renal or abdominal mass,
possible renal vein or IVC thrombus, information
regarding liver and other kidney.
Computed tomography scan
Differential diagnosis of a kidney tumour versus
adrenal tumour (neuroblastoma)
Liver metastases
Fig. 13.1: Synchronous bilateral Wilms' tumour in a child presenting Status of opposite kidney (7% patients have bilateral
with abdominal masses
WT)
Lymph node assessment
2. Epithelial: Usually seen as abortive glomeruli and Status of chest with respect to metastases
tubules. Renal vein or IVC thrombus (6% of cases have IVC
3. Stromal: Usually as immature spindled cells or can thrombus).
manifest as cartilage, osteoid or fat. Chest X-rayas a baseline for pulmonary metastases
Depending on presence of different types of cell types Bone scan/skeletal surveyroutinely not done in all cases
Wilms'' can be termed as triphasic or monophasic. of WT. Indicated in the cases of pulmonary or hepatic
Wilms'' tumour can be separated into two prognostic metastases, and in patients with symptoms suggestive of
groups on the basis of histopathology: bone involvement.
1. Favourable histology (FH): Absence of anaplasia in the
tumour is considered as FH. Histology
2. Unfavourable/Anaplastic histology (UFH): Presence In National Wilms' Tumour Study Group (NWTSG)
of markedly enlarged polypoid nuclei within tumour protocol, patient is explored at presentation if resectable,
samples. Anaplasia is associated with resistance to then nephrectomy specimen or if unresectable, a biopsy is
chemotherapy and may still be detected after preoperative submitted for histopathological examination for assessing the
chemotherapy. Anaplasia is found in 5% of tumours. FH and UFH.
tumour (tumour thrombus or infiltration). The Nephrectomy is not done (only staging and biopsy done) in
tumour may have been biopsied, or there was local following circumstances:
spillage of tumour confined to the flank. There is Solitary kidney
no evidence of tumour at or beyond the margins Bilateral WT
of resection. Free-floating IVC thrombus. Unresectable tumour
Stage III: Residual non-haematogenous tumour confined Poor general condition of patient (high operative
to the abdomen or any of the following: Lymph morbidity and mortality)
node involvement in the hilum or pelvis, diffuse IVC thrombus extending above the level of hepatic veins.
peritoneal spillage either before or during Chemotherapy is given for 5 weeks, after which patient
surgery, peritoneal implants, tumour beyond the is reassessed for resectability. In the authors experience,
surgical margin either grossly or microscopically fine needle aspiration cytology (FNAC) has been practised
tumour not completely resected because of local routinely over decades without any untoward effects. The
infiltration into vital structures, IVC thrombus diagnostic accuracy in expert hands is high. Supplementation
that is adherent to the vena caval wall, tumour
with immunocytochemistry helps to rule out other round
infiltrating a cuff of bladder.
cell tumours in cases with diagnostic dilemmas. An open,
Stage IV: Haematogenous or lymph node metastasis has
biopsy for histopathological confirmation, in cases appearing
occurred outside the abdomen or pelvis.
unresectable clinically, may not be needed if facilities for
Stage V: Synchronous bilateral involvement has occurred.
Each side is assigned a stage from I to III, and FNAC are available.
histology is based on biopsy findings.
Chemotherapy
The most common sites of metastases are lung, regional
lymph nodes and liver. Depending upon the stage and histopathology, the
chemotherapy regime is charted:
Treatment Regimen EE4A: 18-week course of actinomycin-D and
Multidisciplinary treatment planning by a team of cancer vincristine
specialists (paediatric surgeon or paediatric urologist, All stage I and stage II FH tumours
paediatric radiation oncologist and paediatric oncologist) Regimen DD4A: 24-week course of actinomycin-D,
with experience in treating WT is required to determine and vincristine, doxorubicin
implement optimum treatment. Stage IIIIV FH WT and stage IIIV focal anaplasia
Important treatment protocols are as follows: Regimen I: 24-week course of vincristine, doxorubicin,
1. National Wilms' Tumour Study Group: Surgery and cyclophosphamide, etoposide
staging are done at presentation, and treatment is decided Stage IIIV diffuse anaplasia
according to the staging. The dose in infancy should be decreased by 50%.
2. Socit Internationale dOncologie Paedia-trique (SIOP):
Upfront chemotherapy is given at presentation. After Radiotherapy
few cycles of chemotherapy staging is done and future Wilms' tumour is a highly radiosensitive tumour. Higher
treatment is decided.
doses were used in the past, but documentation of radiation
United Kingdom Childrens Cancer and Leukaemia
related side effects has led to decreases in radiation doses.
Group (UKCCLG): Diagnostic biopsy is done then
Indications of radiotherapy are:
chemotherapy is given.
Stage II, III and IV with UFH
Surgical Principles Stage III and IV with FH
Metastatic disease (to metastatic site)
According to the NWTSG protocol, the first step in the
Abdominal irradiation 1080 cGy in 6 fractions
treatment of WT is surgical staging followed by radical
nephrectomy via transabdominal route. Following points are Lung irradiation 1200 cGy in 9 fractions (> 18 m)
to be remembered while operating on WT: Patients in age younger than 18 months are given radiation
Accurate assessment of the extent of disease for staging only if there is no response to chemotherapy, 900 cGy in 6
and to assess resectability fractions with 150 cGy supplementation to the metastases.
Complete tumour removal without rupture
Prognostic Factors
Contralateral kidney must be palpated and inspected
Lymph node sampling is mandatory The most important adverse prognostic factor is the presence
Margins of resection and residual tumour should be of anaplasia. Other prognostic factors are regional lymph
marked with titanium clips node involvement and presence of metastases.
Paediatric Oncology 261
present on short arm of chromosome 2. More than 10 index (MKI). Mitosis-karyorrhexis index is defined as total
copies of MYCN are associated with poor prognosis. number of necrotic tumour, mitotic cells and cells with
Approximately 25% of patients with neuroblastoma exhibit lobulated, pyknotic or malformed cells per 5,000 cells
MYCN amplification. examined.
Deletion of the short arm of chromosome 1 is the
most common chromosomal abnormality present in Favourable Histopathology
neuroblastomas, and it confers a poor prognosis. The 1p Any age, ganglioneuroma, maturing or mature
chromosome region likely harbours tumour suppressor Any age, ganglioneuroblastoma, intermixed
genes or genes that control neuroblast differentiation. Less than 1.5 years old, neuroblastoma, poorly
Neuroblastomas also exhibit deletions of 11q, 14q and differentiated or differentiating and low or intermediate
unbalanced gain of 17q. MKI
Total content of DNA in cell as measured by flow From 1.5 years up to less than 5 years old neuroblastoma
cytometry is also of prognostic significance in infants. differentiating and low MKI.
Hyperdiploid tumours (DNA index > 1) have better
prognosis as compared to diploid tumours. Unfavourable Histopathology
Three neurotrophin receptor gene productsTrkA, TrkB
and TrkCare tyrosine kinases that code for a receptor Any age, ganglioneuroblastoma, nodular
of members of the nerve growth factor (NGF) family. It Any age, neuroblastoma, undifferentiated and any MKI,
has been demonstrated that TrkA expression is inversely or high MKI
correlated with MYCN amplification. 1.5 years up to less than 5 years old, neuroblastoma, poorly
differentiated tumour and any MKI, or intermediate MKI
Pathology Equal to or greater than 5 years old, neuroblastoma, any
subtype and any MKI.
Neuroblastoma falls into the broader category of small round
blue cell neoplasms of childhood. The classic histopathologic Clinical Features
patterns of neuroblastoma, ganglioneuroblastoma and Because neuroblastoma can arise from any site along the
ganglioneuroma reflect a spectrum of maturation and sympathetic nervous system explains the multiple anatomic
differentiation. sites where these tumours occur; location of tumours appears
Neuroblastoma is composed of small uniform cells with to vary with age. Tumours can occur in the abdominal cavity
scant cytoplasm and hyperchromatic nuclei. The presence (40% adrenal, 25% paraspinal ganglia) or involve other
of neuropil and Homer-Wright pseudorosette are diagnostic sites (15% thoracic, 5% pelvic, 3% cervical tumours, 12%
of neuroblastoma. These pseudorosettes, observed in miscellaneous). The signs and symptoms in neuroblastoma
1550% of tumour samples can be described as neuroblasts reflect the location of primary, regional and metastatic
surrounding eosinophilic neuritic processes. disease.
Ganglioneuroma on the other hand is composed of mature Most with neuroblastoma have abdominal primaries and
ganglion cells, neuropil and Schwannian cells. present with an asymptomatic abdominal mass that usually is
Ganglioneuroblastoma comprises tumours with histology discovered by the parents or a caregiver. Symptoms produced
spanning the extremes of ganglioneuroma on one hand and by the presence of the mass depend on its proximity to vital
neuroblastoma on other. structures and usually progress over time:
Light microscopy is frequently unable to differentiate Tumours arising from the paraspinal sympathetic ganglia
neuroblastoma from other small blue round cell tumours. can grow through the spinal foramina into the spinal
Inmmunohistochemistry with NSE, chromogranin, canal and compress the spinal cord. This may result in
synaptophysin and S-100 stains usually are positive. Electron the presence of neurologic symptoms, including motor,
microscopy can be useful because ultrastructural features sensory deficits and even bladder and bowel dysfunction.
like presence of microfilaments, microtubules and dense core Tumours may compress the lymphatic or venous drainage
granules are diagnostic for neuroblastoma. resulting in scrotal or lower extremity oedema.
Earlier Shimada and Joshi pathological classification Sudden enlargement of abdominal mass may be due to
was in use but now International Neuroblastoma Pathology haemorrhage into the tumour.
Classification (INPC) that combines the best features of these Thoracic neuroblastomas (posterior mediastinum) may
two systems has been developed. The tumours are divided be asymptomatic and usually are diagnosed by imaging
into those with favourable and unfavourable histopathology studies obtained for other reasons. Presenting signs
depending upon histology, age and mitosis-karyorrhexis or symptoms may be insignificant and involve mild
Paediatric Oncology 263
Prognostic Factors
Age: Infants have better prognosis than older children
Early stage of disease (I and II) is better
Tumour site: Cervical neuroblastomas have better
prognosis, may be due to their early detection. Pelvic and
thoracic tumours carry a better prognosis than abdominal
A tumours
Cortical bone involvement is associated with poor
prognosis
Tumour pathology: Favourable or unfavourable as
determined by (INPC).
Genetic Markers
MYCN amplification
Hyperdiploid karyotype
1p loss of heterozygosity
TrkA.
Treatment
Principles of Surgery
Surgery plays an important role in the diagnosis and
management of neuroblastoma.
Advances in chemotherapy have made sacrifice of vital
B
structures during resection, unnecessary. Gross complete
Figs 13.2A and B: PET scan of a baby with neuroblastoma: resection should be attempted if possible. Non-adherent,
(A) Pre-chemotherapy; (B) Post-chemotherapy
intracavitary lymph nodes should be sampled. Role of random
Stage 3: Unresectable unilateral tumour infiltrating across liver biopsy to rule out hepatic metastases is controversial.
the midline, with or without regional lymph node Liver biopsy is still indicated in infants as imaging studies
involvement; or localised unilateral tumour with may miss diffuse involvement of liver.
contralateral regional lymph node involvement;
Principles of Radiotherapy
or midline tumour with bilateral extension by
infiltration (unresectable) or by lymph node Neuroblastoma is a radiosensitive tumour. Role of radio
involvement. The midline is defined as the therapy in management of neuroblastoma is clearly defined
vertebral column. Tumours originating on one in following setting:
side and crossing the midline must infiltrate to or Infants with stage 4S disease who present with respiratory
beyond the opposite side of the vertebral column. distress secondary to hepatomegaly and have not
Stage 4: Any primary tumour with dissemination to distant responded to chemotherapy
lymph nodes, bone, bone marrow, liver, skin and/ Total body irradiation is used as a part of many preparative
or other organs, except as defined for stage 4S. regimens for autologous bone marrow transplant
Paediatric Oncology 265
Embryonal (19%): Primitive tubules formed by small true metastases or are areas of demineralisation. Metastases
epithelial cells with minimal cytoplasm. to brain or bone marrow are rare.
Macrotrabecular (3%): Cells grow in trabeculae of 2040
cells in a repetitive pattern within the tumour. Investigations
Small cell undifferentiated (3%): Uniform population Laboratory Investigations
of cells lacking evidence of stromal or epithelial
differentiation. Complete blood counts: Anaemia and thrombocytosis are
commonly observed.
Mixed Epithelial and Mesenchymal Type (44%) Basic metabolic panel: Liver enzymes are usually normal
but may be raised.
With teratoid features (10%) Alpha-fetoprotein (AFP): Levels are increased in more
Without teratoid features (34%). than 80% of cases of hepatoblastoma. AFP is a major
serum protein synthesised by fetal liver cells, yolk sacs,
Clinical Features and the GI tract. Although elevated AFP levels are not
Most patients are asymptomatic at presentation. Asymptomatic specific for hepatoblastoma, they provide an excellent
mass palpated by either parent or paediatrician is the marker for response to therapy, disease progression and
presenting complaint in 68% of patients. Other presentations detection of recurrent disease. The half-life of AFP is
are abdominal distension, anorexia, weight loss, abdominal 57 days and levels fall to reference levels 46 weeks
pain and vomiting. Jaundice is rare (Figs 13.4A and B). after complete resection. Interpretation of AFP levels can
be difficult because hepatoblastoma tends to occur within
Pattern of Spread the first 2 years of life. Reference range AFP levels are
comparatively high at birth and even higher in premature
Majority of metastases occur in the lungs. Bone lesions have
infants, which can complicate interpretation of this value.
been reported but they are unclear whether these represent
By age 1 year, adult levels of less than 10 ng/ml have
been reached. Hepatoblastomas with very low or very
high levels of AFP are associated with poor prognosis.
Imaging Studies
Plain abdominal radiograph: It may reveal right upper
quadrant mass and calcification.
Ultrasound: Homogeneous, encapsulated tumour that
may be associated with portal venous or caval invasion
CT scan of abdomen: Predominantly hypodense lesion
with pathological areas of arterialisation. Calcification
may be present in 40% cases.
A
MRI can also be done instead of CT scan: Low signal on
T1 weighted sequences and heterogeneous signal on T2
weighted sequences.
CT scan of chest: To exclude pulmonary metastases.
Histology
According to Society of Paediatric Oncology Epithelial Liver
(SIOPEL) Group diagnosis is usually established on the basis
of clinical setting, radiological findings and AFP values,
biopsy is recommended in children less than 6 months of
age or more than 3 years of age to differentiate from other
tumours (hemangiothelioma and hepatic cell carcinoma).
High-risk case
Low-risk case
B
Staging
Figs 13.4A and B: Hepatoblastoma of the left lobe of liver:
(A) Clinical appearance; (B) Operative findings Paediatric oncology group staging of hepatoblastoma:
270 Hutchison's Paediatrics
Surgery
Goal of hepatic tumour resection in general is to completely
excise the tumour with at least a 1 cm margin. Anatomical
resection is undertaken as they are associated with less
intraoperative and postoperative morbidity and mortality.
Lymph nodes at porta and hepatoduodenal ligaments are also
removed and sampled. There is no significant difference in
local tumour recurrence with microscopic positive as against
negative margins.
Fig. 13.5: PRETEXT (pretreatment classification scheme), an alterna-
tive staging system developed by International Society of Paediatric Presence of microscopic residual disease does not
Oncology necessarily mean a poor prognosis with respect to local
tumour recurrence, nor does it imply the need for heroic
Stage I (FH): Complete resection with pure foetal
chemotherapy or surgical salvage procedures. Extrahepatic
histology
disease is a more important predictor or outcome than
Stage I (UFH): Complete resection with histology other
surgical margins.
than pure foetal type
Orthotopic liver transplantation (OLT) is now accepted as
Stage II: Microscopic residual disease, preoperative or
intraoperative spill a treatment modality for patients with unresectable tumours.
Stage III: Unresectable or partially resected tumours, Liver cancers now account for approximately 2% of all liver
positive lymph nodes transplants in children. Early referral to a transplant surgeon
Stage IV: Metastatic disease. should be considered in following situations:
PRETEXT (Pretreatment classification scheme) Multifocal PRETEXT 4 hepatoblastoma
alternative staging system developed by International Large, solitary PRETEXT 4 hepatoblastoma, involving
Society of Paediatric Oncology based upon number of liver all four sectors of the liver
segments involved as determined by preoperative imaging Centrally located tumours involving main hilar structures
studies. The liver is divided into four sectorsan anterior or main hepatic veins
and a posterior sector on the right and a medial and a lateral
sector on the left (Fig. 13.5). Staging is done according to Chemotherapy
tumour extension within the liver as well as involvement of Cisplatin (CDDP) is accepted as the single most useful agent
hepatic vein (v), portal vein (p), regional lymph nodes or in treatment of hepatoblastoma. Other drugs which are used
distant metastases (m). doxorubicin, 5-fluorouracil, vincristine and carboplatin. Use
of irinotecan is under investigation.
Treatment
Cooperative group trials have enabled development of Radiotherapy
treatment protocols for treatment of hepatoblastoma. From Radiotherapy does not play a major role in treatment of
various studies it is clear that only chance for cure from hepatoblastoma.
hepatoblastoma is if sometime during treatment there is grossly
complete resection. Most hepatoblastomas, on the other hand, Prognostic Factors
show good response to drugs, which shrinks the tumour
The most important prognostic factor is complete tumour
thereby increasing the chances of resectability. Principal
resection. Other prognostic factors are degree of mitotic
strategies in treatment of hepatoblastoma are as follows:
activity in tumour cells (more than 2/hpf associated with poor
SIOPEL recommends no attempt for primary resection and
prognosis), pure foetal histology (only if tumour completely
giving the patient preoperative chemotherapy routinely.
resected) and AFP levels at presentation and a fall in response
POG promotes primary resection of tumour at presentation
to chemotherapy is good for prognosis.
reserving chemotherapy for obviously unresectable
tumours.
Hepatocellular Carcinoma
German group: Because of concern that resistance may
develop after 36 courses of chemotherapy and tumour This tumour occurs in older children, usually adolescent. It
may rapidly develop, primary resection of small localised may present with a palpable hepatic mass, abdominal pain
Paediatric Oncology 271
Table 13.1: Histopathology classification of germ cell tumours quantities and newborn levels of 50,000 ng/ml are normal
with still higher levels noted in premature infants. Marked
Germinoma Intratubular germ cell
neoplasia
variability of the rates of fall in the first 4 months of life
makes interpretation of changes of serum AFP difficult in
Invasive (dysgerminoma,
seminoma) this era. After the 8th month of life, levels remain low at
Teratoma Mature/Benign
less than 20 ng/ml. After infancy, the expected fall after
total removal of a secreting tumour is easily plotted on
Immature a logarithmic chart, and any deviation from this line is
Malignant (teratoma plus considered evidence of residual or recurrent disease (Fig.
one or more malignant 13.7). Similarly, any elevation of the serum AFP level
elements) after removal of a benign teratoma is evidence of growth
Embryonal carcinoma of a malignant yolk sac tumour.
(adult type)
Beta-human chorionic gonadotrophin ( -HCG) is secreted
Endodermal sinus tumour by some embryonal carcinomas and germinomas and is
(yolk sac tumour)
presumed to arise from cells simulating syncytiotrophoblast.
Choriocarcinoma
-HCG is not associated with yolk sac tumours, but may be
Gonadoblastoma positive in instances of mixed tumour, from the embryonal
carcinoma element. It is invariably present in patients with
peritoneum. Metastatic tissue appears nevertheless on
choriocarcinoma. Logarithmic graph with an even steeper
microscopy as benign neuroglia.
Of the four main histological types of malignancy, yolk slope than AFP can be constructed for monitoring the
sac tumours (also known as endodermal sinus tumours) are the progress of patients with tumours secreting this tumour
commonest in early infancy and may occur as malignant foci marker.
within an otherwise benign teratoma. Embryonal carcinoma Some central nervous system (CNS) germ cell tumours
is found in older children and in mixed histology types it secrete markers, either AFP or -HCG. An international
coexists with yolk sac tumours. Mixed tumours account for study showed that there was correlation between tumour
up to a quarter of cases (Table 13.1). Germinomas (testicular markers and histology in only 48% of patients. Elevation
seminoma and ovarian dysgerminoma) are relatively rare in of cerebrospinal fluid (CSF) levels of markers over a
children. Choriocarcinoma is very rare, and presents in two simultaneous serum sample give a good indication of the
forms: (1) the gestational formin a sexually active teenager nature of a tumour seen on imaging or of recurrence of
and (2) the non-gestational formwhich occurs in gonads or
known tumour within the CNS after initial treatment.
in males in extragonadal axial sites.
In the great majority of patients, treatment regimes are
Though some patterns of chromosomal abnormalities
closely linked to the behaviour of the serum tumour markers,
have been identified in germ cell tumours, none so far has
particularly AFP. Excellent results have been reported
formed the basis of a prognostic test, except that aneuploidy
without using chemotherapy where operative excision
is an unfavourable sign.
Malignant germ cell tumours are aggressive neoplasms of the tumour alone results in permanent return of serum
with local invasive spread occurring early in instances of AFP levels to normal. Furthermore, metastases or residual
ovarian and mediastinal primaries. Testicular tumours tumour discovered by a deviation from the expected fall
in contrast often present clinically while still localised to of AFP do not require an extensive search by imaging or
their organ of origin. Metastatic spread is found in 20% of surgery. After treatment with chemotherapy, confirmation of
patients at presentation, in either regional lymph nodes or normal AFP levels continues until there is no significant risk
via haematogeneous spread to the lungs or occasionally the of recurrence.
liver.
Staging
Tumour Markers Stage I tumours are confined on histopathology to within the
Alpha-fetoprotein, first identified as a serum marker of excised specimen provided there is no convincing evidence
liver tumours, is in clinical practice almost invariably on imaging of regional lymph node enlargement. Stage IV
secreted to high levels by malignant germ cell tumours, represents haematogenous spread, usually to lungs, but also
a serum level greater than 100,000 ng/ml being common. to liver, bone, brain and skin. Stages II and III relate to
AFP is a glycoprotein with a serum half-life of about 5.5 lymph node or cavitary spread near to the primary site or
days. The foetal and neonatal liver secretes AFP in large further distant, but not crossing the diaphragm.
Paediatric Oncology 273
Fig. 13.7: Logarithmic chart for plotting the fall of AFP during treatment
Clinical Presentation, Investigation Serum AFP levels should be measured urgently and a chest
and Management radiograph should be obtained to exclude metastases.
Ultrasound examination of the retroperitoneal tissues,
Testis both iliac and at the level of the renal vessels, will detect
significant enlargement of lymph nodes. An abdominal CT
The finding of a painless and hard enlargement of a previously study is more accurate in assessing the lymph node presence
normal testis is the commonest presentation. In most cases and status. Except for a complete blood count, other
the obvious change in testicular size and consistency leads investigations are not justified, since removal of the tumour
to medical intervention before local invasion or distant and histological examination of the whole testis and inguinal
metastases have occurred. In the absence of pain, the cord should be carried out promptly.
differential diagnosis includes other malignancies, particularly Trans-scrotal biopsy or any scrotal incisions are
paratesticular RMS and testicular involvement in leukaemia. contraindicated. A groin incision is made which should be
274 Hutchison's Paediatrics
Ovary
In contrast to testicular tumours, ovarian malignant germ
cell tumours usually present after the first decade of life and
with widespread pelvic or intra-abdominal tumour spread.
In advanced cases, ascites and cachexia are found. In the
majority of girls abdominal pain leads to the finding of a
lower abdominal mass and its nature is established by the
results of aquiring serum AFP or -HCG levels (Figs 13.9A
and B). Abdominal radiographs may show a mass teratoma
containing bone or teeth and a mixed echogenicity appearance
on ultrasound examination suggests the presence of solid
and cystic components (Fig. 13.10). The presence of these
findings while compatible with a benign teratoma, do not
exclude malignant germ cell tumour. Clues to malignancy
will come from CT or MRI evidence of invasion of pelvic
wall tissues or other viscera, or evidence of obstruction of
ureters. Chest radiograph and ultrasound examination of
lymph nodes are called for in all suspected cases of malignant
Fig. 13.8B: Operative photograph showing groin incision
germ cell tumour. cord clamping and removal of tumour
If investigations suggest that surgical excision is possible,
this should be undertaken. Rarely when a benign teratoma is
being removed, evidence of peritoneal deposits of neuroglial
tissue may be found and biopsy is required. The prognosis
is good and chemotherapy not required. A needle biopsy
serves to make a histological diagnosis. Laparoscopy may
be a highly suitable instrument to control the acquisition of
several samples of an invasive tumour.
Following chemotherapy and re-evaluation on scanning,
an additional role for the surgeon may be at second-look
laparotomy or laparoscopy to check for any residual
malignancy and of course to excise any benign teratoma. Fig. 13.8C: Orchidectomy specimen with cord clamped
Paediatric Oncology 275
For intracranial germ cell tumours, mostly those results for testicular tumours which have been achieved over
secreting tumour markers, the current SIOP study uses the last decade. Many testicular tumours are cured by correct
cisplatin, etoposide and ifosfamide (PEI), in 4 courses before surgical management alone. Though up to 25% of these are
further evaluation with a view to subsequent radiotherapy or either metastatic at presentation or relapse after appearing to
surgery. be stage I, survival at or near 100% is reported. Two patients
died out of 74 in UKCCSG GCI, after a low dose of VAC was
Radiotherapy given for metastases. All patients receiving full dose VAC
The high chemosensitivity of most malignant germ cell survived. It is expected that patients in the later trial GCII will
tumours excludes radiotherapy from treatment programmes. have at least as good results with fewer toxic effects.
Rarely a focal metastasis in a resistant tumour may be treated Ovarian tumours prove more difficult to manage, and
to relieve symptoms. The chief exception is germinoma. Few 25% relapse after initial chemotherapy or fail to respond to
gonadal germinomas occur in childhood, but they are highly first line treatment. Of the extragonadal tumours, the rare
radiosensitive, and good results are obtained. Similarly, primary sites including vagina, uterus and prostate carry the
the intracranial germinoma has been successfully treated best prognosis. A quarter of malignant tumours recurring in
by radiotherapy for more than two decades. In adolescents, the site of a sacrococcygeal teratoma may show relapsing
the dose required is unlikely to produce the cognitive effects or persistent disease, and mediastinal primary tumours carry
seen in the irradiated brain of the young child. However, a similar poor prognosis. However, a number of relapsing
some suprasellar germ cell tumours present with an effect on patients are salvaged by Adria-VAC or other more toxic
the pituitary, and irradiation may extend the damage. Lack of chemotherapy regimes.
growth hormone in adults may be harmful and lead to obesity The advance in chemotherapy can be judged by the
and other symptoms, and endocrine surveillance is required difference in 5-year event-free survival in GCI (46%) and
after therapy in all such patients. GCII (87%).
Prognosis Bibliography
The correct combination of surgery and chemotherapy has 1. Gupta DK, Carachi R (Eds). Pediatric Oncology, New Delhi:
recently resulted in excellent outcomes, building on the fine Jaypee Brothers Medical Publishers; 2007.
Mary Mealyea
C H A P T E R
Dermatology
Wheal: A transient skin lesion consisting of an 2. The morphology of the primary lesion. In other words
elevated pale centre with a surrounding are what does a lesion look like when it rst appears? What
of erythema. Often described by patients as shape, colour and size is it? Is it scaly or smooth or does
blisters. It is characteristic of urticaria and it form blisters?
can be produced by the release of histamine 3. The conguration of the rash. Are lesions separate or in
in the dermis. groups? Is it discrete or conuent? Is it annular or linear?
Scale: A sheet of adherent corneocytes in the
Diagnosis
process of being shed
Crust: Dried exudate consisting of a mixture The history and examination will often be enough to
of serum and scale, sometimes with make a diagnosis. If there is still doubt then some further
erythrocytes and leucocytes investigations may be required such as skin scrapings or hair
sent to mycology, if fungal infection is suspected. Swabs to
Ulcer: A discontinuity in the skin surface involving
check if there is bacterial or viral infection. Blood tests may
the complete loss of epidermis
be required and occasionally a biopsy.
Erosion: A supercial ulcer
Excoriation: A scratch mark
VASCULAR ANOMALIES
Lichenication: A patch or plaque in which the epidermis
appears to be thickened and the normal skin Vascular birthmarks are classied according to that suggested
creases are more prominent by Mulliken and Glowacki in 1982. This classication was
Scar: A patch or plaque in which the skin surface slightly modied and accepted in 1996 by the International
has lost the normal surface crease, contour Society for the Study of Vascular Anomalies. Essentially
and skin appendages. vascular birthmarks fall into one of two categories: vascular
tumours or vascular malformations. Tumours are vascular
HISTORY lesions in which there is hyperplasia of the vessels while
malformations are lesions in which there is dysplasia of the
As in any other branch of medicine a careful history is vessels.
important. The history, not only about the rash or lesion,
but also about general health and relevant family history Vascular Tumours
is fundamental to making a correct diagnosis. In children, The most common vascular tumour is the infantile
obviously this information will be obtained from a parent or haemangioma, sometimes known as a strawberry naevus or
carer but it should be from the person who is most involved birthmark. About 10% of infants will be diagnosed with one.
with the care of the child and who can give an accurate They are more common in girls and in premature infants.
history. Chorionic villous sampling during pregnancy also increases
the risk.
Important Questions about the Rash or Lesion This benign proliferation of endothelial cells has a very
distinctive history. The lesion is not usually present at birth;
1. When and where and how did it begin?
if present it is in the form of a faint bruise like mark. It
2. Has it changed and if so how? normally becomes evident within the rst few weeks of life
3. Does it come and go? and has a period of rapid growth. It can increase in size
4. Does anything make it better or worse? considerably and continue to grow for up to 12 months
5. Is it itchy, painful or tender? (Fig. 14.2). It is then followed by a period of slow involution
6. Does anyone else in the family have a similar rash or over a number of years (Fig. 14.3).
lesion? Infantile haemangioma can be supercial where all the
7. How is their general health, are they otherwise well and growth are above the skin or deep, where the growth is below
thriving? the skin surface. Often there is a combination of supercial
and deep (Fig. 14.4).
The Examination The appearance is often of a rapidly expanding bright
red plaque, this is the supercial component. The deeper
The close examination of the whole skin under good light is component can be more difcult to diagnose and usually
important. There are three aspects to the examination: takes longer to involute than the supercial one. This is a
1. The distribution of the rash or lesion. Is it limited to one fast ow lesion and so is warmer than surrounding skin. If
particular area or areas or widespread, in other words, there is doubt about the diagnosis Doppler ultrasound can be
where is its location? Is it symmetrical or segmental? helpful.
Dermatology 281
PHACE Syndrome
This is a rare syndrome where there is an association of
posterior fossa brain malformations, haemangiomas, arterial
anomalies, coarctation of the aorta, cardiac defects and eye
abnormalities. It is usually associated with large segmental
facial haemangioma.
DISORDERS OF PIGMENTATION
Either too much pigment or too little can pose quite a
distressing cosmetic problem. This is particularly so in
darker skinned individuals as the pale or white patches
standout more.
Vitiligo
This usually presents with symmetrical white patches that
can occur anywhere. The white patches occur due to de-
pigmentation caused by the destruction of melanocytes. This
can be a major cosmetic problem depending on where the
white patches are. It is obviously more noticeable on dark-
skinned individuals. The areas of skin appear as chalk white
but developing vitiligo in dark-skinned individuals may show
various shades between normal skin and totally de-pigmented
skin (Fig. 14.11).
About 25% of those with vitiligo develop it before the
age of 10. The vitiligo is most commonly generalised but can
be segmental. Patches of vitiligo can also affect the hair and
mucous membranes.
Vitiligo is thought to be a type of autoimmune disease
Fig. 14.9: Hypomelanosiscongenital hypopigmented area in groin in which there is a complete loss of melanocytes. There is
area, upper thigh and lower trunk often a family history of vitiligo or of other autoimmune
diseases. Children themselves with vitiligo rarely show
Pityriasis Alba signs of other autoimmune diseases and routine screening is
This is a form of postinammatory hypopigmentation where not required.
pale patches appear mostly on the face (Fig. 14.10). These are Treatment with potent topical steroids may stimulate
more evident in the summer time when the sun has darkened re-pigmentation. Parents, however, should be warned
the rest of the skin. They usually fade over the winter but that the white patches, because there is no pigment, are
may return again the following summer. Many parents and more susceptible to sun damage and should, therefore, be
even doctors get very concerned about this because they protected with either clothing or sunscreen. More recently
confuse it with vitiligo. However, pityriasis alba, which topical tacrolimus has also been found in some cases to be
is a benign condition and eventually clears even without effective.
284 Hutchison's Paediatrics
Piebaldism
This is another condition in which there are white patches
due to lack of melanocytes in the skin. However, this is an Fig. 14.12: Blaschko linesrepresent lines of embryological
inherited condition in which there is a defect in the proliferation neuroectodermal migration
and migration of melanocytes during embryogenesis. It can
be differentiated from vitiligo by the fact that it is present at
birth and is not progressive.
Hypomelanosis of Ito
This condition is characterised by hypopigmented patches or
streaks, which often follow the lines of blaschko (Fig. 14.12).
They are usually present at birth, but may develop in the rst
2 years of life. Thereafter, they usually remain stable. This is
usually a benign condition but may be associated with other
abnormalities.
Tuberous Sclerosis
This inherited condition has manifestations in the skin,
central nervous system, the eye and viscera. It may initially Fig. 14.13: Angiobromas (adenoma sebaceum)
present with a number of hypopigmented macules usually
called ash leaf macules. These macules can be a variety of CAF AU LAIT MACULES
shapesoval, lance-shaped, ash leaf or small confetti like These are light brown, at, round or oval lesions, which may
shapes. have an irregular border. They can occur anywhere on the
Other cutaneous features include angiobromas of body. They may be present at birth or develop in the rst few
the face, connective tissue naevi (forehead plaques and months. They can, however, increase in number and size
shagreen patches) and periungual bromas (Fig. 14.13). throughout childhood.
Any child who presents with hypopigmented patches should When there are only a few lesions (less than 5) it is usually
be carefully followed up and monitored for other signs of insignicant and not associated with any other abnormalities.
tuberous sclerosis. However, they may be a marker for neurobromatosis
Other conditions, which may present with hypo- especially when there are more than 5.
pigmentation, are pityriasis versicolor, lichen sclerosus and Neurobromatosis is an inherited condition with
leprosy. manifestations in the skin, eye, bone, soft tissues and central
Dermatology 285
Fig. 14.14: Neurobromatosis Fig. 14.15: Neurobromatosis showing caf Fig. 14.16: Dermal melanocytosis
showing caf au lait macules au lait macules and axillary freckling Mongolian blue spots
Fungal Infection
Fungal infection (dermatophytes) can affect any part of the
body, affecting hair skin or nails, and are named after the Fig. 14.21: Tinea capitis showing small area of scaling and hair loss
part of the body affected.
Tinea capitis is fungal infection of the scalp. It can be
quite discrete affecting only a small patch of scalp causing
scaling and hair loss or it can be more widespread, with
scaling, hair loss and sometimes pustules, affecting most of
the scalp (Figs 14.20 and 14.21). Many types of fungi cause
this and among them are Trichophyton tonsurans, T. rubrum,
T. soudanese, T. violaceum and Microsporum canis.
A kerion may develop. This consists of pustules and
painful tender nodules, which may coalesce and expand.
There is marked inammation with pain and tenderness
and an underlying bogginess of the scalp from which there
may be oozing, crusting and hair loss. This is frequently
misdiagnosed as a bacterial abscess. Treatment, however, is
not surgery but antifungals such as griseofulvin or terbinane.
If not treated promptly hair loss may be permanent. A Fig. 14.22 Fig. 14.23
common source of infection is from cattle. Figs 14.22 and 14.23: Tinea corporis
Fig. 14.24: Tinea crurisfungal infection of groin area Fig. 14.25: Scabieswidespread pruritic papules seen over the
trunk and axilla
Diagnosis of fungal infection is made by plucking hair
samples, taking skin scrapings or nail cuttings for culture
and examination. It is important to identify the source of the
infection, which may be human, animal or soil. If it is from
a family pet or other animal known to the family it needs to
be examined and treated by a vet.
Scabies
Human scabies is caused by Sarcoptes scabiei ssp. hominis.
Infants even as young as 45 weeks old can be affected. Babies
are unable to scratch so the symptoms are often irritability,
poor sleeping and feeding. A generalised erythematous Fig. 14.26: Impetigenised atopic eczema
vesiculopapular rash is seen and the papules are commonly
found on the palms and soles of babies (Fig. 14.25). Impetigo is generally recognised by its honey colour
In older children, itch is the predominant feature crusted plaques. It can be localised to a small area of skin or
especially at night. Scabies should be considered part of become more generalised especially when it is secondarily
the differential diagnosis in any slightly atypical itchy rash infecting previously diseased skin. Most children with
especially if other family members are itchy. In children with impetigo remain well although they may have some localised
eczema, it can be the cause of a sudden are of their eczema. adenopathy. In children with eczema, the infection may be
The presence of burrows conrms the diagnosis but is not quite subtle and appear only as a are of the eczema with
always evident. some yellow crusting.
Treatment is usually with topical permethrin 5% cream If only a small area is affected a topical antibiotic such
and all family members and regular contacts should be as mupirocin may be sufcient otherwise swabs should be
treated at the same time. done for sensitivities and the appropriate antibiotic started.
Flucloxacillin is usually the antibiotic of choice.
Impetigo
Impetigo is a supercial skin infection mostly caused by Atopic Eczema
S. aureus but occasionally by Streptococcus pyogenes. This is one of the most frequently seen conditions in
Impetigo normally develops on skin which is already affected paediatric dermatology. It commonly presents after the rst
by a primary skin disease such as atopic eczema or an area few weeks of life as a red rash on the face and scalp. It
of skin which has been traumatised by either an insect bite, then becomes more widespread especially on the extensor
laceration, burn or other condition resulting in a break in aspects of the limbs but usually spares the nappy area. As
the normal skin barrier (Fig. 14.26). It tends to occur more the child becomes older the exures of the limbs become the
frequently in hot humid climates. main site with excoriations, lichenication and exudates. In
Dermatology 289
Fig. 14.27: Excoriated eczema of face Fig. 14.29: Flared eczema of knees showing lichenication
and infection
severe cases, it can be extensive and widespread (Figs 14.27 dust mite will all cause a are of the eczema. Excessive heat
to 14.30). and sweating may also irritate the skin. Avoidance of such
Eczema is always itchy but it is not always apparent irritants is therefore important.
in neonates, young infants or children with any degree of Moisturisers should be applied to the skin frequently
physical weakness. It may manifest itself in these children as and regularly to prevent the skin drying out. These also,
irritability and poor sleeping. especially the greasier ones, form a barrier on the skin to
This is a chronic relapsing condition and is associated help prevent irritants and infection getting in. Moisturisers
with a family history of atopy (atopic eczema, asthma, hay should continue to be applied even when the skin is not red
fever or allergic rhinitis). It is distressing to the child because and itchy. Bath oil and a moisturising soap substitute should
of the constant itch but also to the whole family who become also be used. Once, it is under control many children can
very stressed because of an irritable child who sleeps poorly. keep their eczema settled with moisturisers alone and very
Parents are particularly distressed because of lack of sleep occasional topical steroid.
and a feeling of failure because they do not seem able to The itch and inammation of eczema is best controlled
comfort or help their child. with topical steroids. Weak steroids are used for the face,
There is no cure for eczema but the majority of children folds and napkin area. Stronger steroids may be required
can have their symptoms controlled and most of them grow intermittently for severe ares but should only be given
out of it before adulthood. under close supervision. Moderate to potent steroids are
The principal features of eczema are dry skin, red itchy usually required for intermittent use on the limbs and trunk.
inammation and frequent bouts of secondary infection. Topical tacrolimus is proving a useful alternative to topical
Treatment is, therefore, aimed at controlling these symptoms. steroids particularly on the face. This is especially so around
The skin is very sensitive and many things such as woollen the eyes where strong steroids are usually contraindicated.
or nylon clothing, perfumes, soap, animal dander and house However, the long-term safety of tacrolimus has not been
290 Hutchison's Paediatrics
Eczema Herpeticum
Children with atopic eczema do not handle the herpes
simplex virus normally and when infected with it the
infection can become widespread and the child systemically Fig. 14.32: Seborrhoeic dermatitis showing yellow scaling of eye-
unwell. Admission to hospital is often necessary for IV brows, forehead and scalp
acyclovir. The infection is recognised by numerous small
discrete erosions. Swabs should be taken for conrmation of
the diagnosis. If possible children with eczema should avoid
contact with people who have cold sores (herpes simplex). In
particular, family members with a cold sore should not kiss
children especially those with eczema. The herpes simplex
virus cannot be eradicated and the child will suffer recurring
episodes of localised cold sores or even widespread eczema
herpeticum.
Seborrhoeic Eczema
This is a condition generally affecting children in the rst
year of life. Characteristically there is a greasy, yellowish, Fig. 14.33: Seborrhoeic dermatitis showing involvement of the folds
in napkin area
thick scale on the scalp, usually known as cradle cap
(Fig. 14.31). When more extensive the face, especially the area is often affected especially the folds (Fig. 14.33). The
eyebrows, nasolabial folds and malar eminences, the ears axillary area can also be similarly affected.
and the chest can also be affected with erythema and yellow This condition is often confused with atopic eczema, but
greasy scale (Fig. 14.32). Unlike atopic eczema where the the classic clinical picture and distribution of the rash along
napkin area is spared in seborrhoeic eczema the napkin with the fact that the rash is not itchy and therefore the child
Dermatology 291
is usually happy and content differentiates the two. In young In older children, it can have the same distribution as in
babies, there can be an overlap, and they can in fact have adults, i.e. the scalp, ears, elbows, knees and periumbilical
both atopic and seborrhoeic eczema. area (Figs 14.35 to 14.37). Occasionally only the scalp is
Candida albicans often invades the affected areas and
therefore treatment, which is with a mild to moderate steroid,
may be combined with an anticandidal preparation.
Napkin Dermatitis
The most common type of napkin rash is irritant contact
dermatitis due to the contact of urine and faeces with the
skin. The rash is initially red and scaly but quickly becomes
deeply erythematous with a typical glistening or glazed
appearance (Fig. 14.34). It typically spares the folds of the
napkin area. It is very painful and the child is miserable
especially at each nappy change. If left untreated punched
out ulcers and erosions develop.
Nappies should be changed as soon as they are soiled
and a thick emollient such as zinc and castor oil cream or Fig. 14.35: Psoriasisplaque located over the pressure point
of the knee
Psoriasis
Psoriasis is uncommon in children under 10 years, but when
it does occur it can have a similar distribution to seborrhoeic
eczema affecting mainly the scalp, ears and napkin area
especially in young children. In fact, in some children only
the napkin area is involved and the diagnosis is difcult
and may be confused with irritant napkin dermatitis or
seborrhoeic eczema. Fig. 14.37: Psoriasis
292 Hutchison's Paediatrics
Viral Warts
Warts are a common occurrence in children. They are caused
by the human papilloma virus of which there are several types.
They most commonly appear on the hands and feet but can
occur anywhere on the body surface. They initially appear as
smooth skin coloured papules but slowly enlarge and develop
an irregular hyperkeratotic surface. They may appear as a
slender stalk in which case they are called liform warts and
are commonly found on the face especially the nostrils of the
nose and the lips. Viral warts usually spontaneously resolve Fig. 14.47: Molluscum contagiosumumblicated papules
once the immune system recognises and overcomes the virus
but it may take many months.
If treatment is desired wart paints containing salicylic
acid are usually effective. Cryotherapy with liquid nitrogen
is also usually effective but is painful and not advised in
young children.
Genital warts are less common and when they occur,
especially in the older child, may be caused by sexual abuse.
However, they can be caused by autoinoculation from warts
elsewhere on the same individual or from a carer who has
hand warts. In the young child (under age 4), they may also
be caused by vertical spread from the mother in utero or
during delivery. The virus may lie dormant and not manifest
itself for some months or even years. It is often best to leave Fig. 14.48: Juvenile xanthogranuloma
these warts to spontaneously resolve, as treatment with
cryotherapy is inevitably painful. Juvenile Xanthogranulomas
These lesions have a very characteristic yellow/orange
Molluscum Contagiosum
colour. They can occur as single or multiple lesions and are
This is a viral infection, which produces crops of pearly dome- usually restricted to the skin but can occur in other organs.
shaped papules with an umbilicated centre (Fig. 14.47). The They usually present as nodules in the skin but can occur as
condition is self-limiting and clears once the individual has plaques (Figs 14.48 and 14.49).
developed his or her own immunity but it can take several They are usually benign and self-limiting affecting
months. This is mainly an infection affecting children and infants and young children. Lesions may be present at birth
is quickly spread by contact with infected individuals often but most occur in the rst year of life. Rarely there can be
through shared baths, towels or swimming pools. The lesions an association with neurobromatosis, juvenile myeloid
are asymptomatic until they are beginning to clear when they leukaemia or urticaria pigmentosa, particularly when
develop an area of erythema around them, which is itchy. multiple lesions are present.
At this stage, children often scratch them and they can be
susceptible to secondary infection. An antiseptic paint should Dermoid Cysts
be applied to prevent this. These present as asymptomatic skin-coloured or slightly
Treatment is usually not necessary. Cryotherapy is bluish nodules and occur anywhere on the face, scalp or
effective but painful and not advised in young children. spinal axis. Although these are congenital lesions, caused by
296 Hutchison's Paediatrics
faulty development of the embryonic fusion lines, they are Treatment with intralesional steroid can sometimes atten
not always noticed until early childhood when they begin to the scar and silicone gel can be applied topically but it is not
enlarge. always successful.
Midline or nasal dermoid cysts can have an intracranial
connection and have the potential to become infected resulting Mastocytosis
in meningitis. These cysts should be surgically excised after
Brown, reddish brown or yellow brown lesions can present
radiological imaging.
either as individual lesions (mastocytomas) or as multiple
A common site for them is the lateral eyebrow area and
lesions (urticaria pigmentosa) (Fig. 14.52). These lesions
these lesions do not have a central nervous system connection
usually present during the rst 2 years of life but can be
and are, therefore, of less concern (Fig. 14.50).
congenital. In the early stages, they urticate and blister with
any kind of friction. These lesions are full of mast cells,
Keloid Scars
which release histamine to produce the typical wheal and
Keloid scars are caused by an exaggerated response to skin are reaction or blister.
injury. Darker-skinned individuals seem to be more at risk of The prognosis is generally good. The blistering usually
these and there is sometimes a familial tendency. stops by about the age of 2 and the lesions themselves often
The scarring grows out beyond the original site of injury eventually spontaneously clear. Affected children should
(Fig. 14.51). The chest and shoulder area seem to be most avoid histamine-releasing agents such as aspirin, opiates and
vulnerable to this type of scarring, but the face scalp and cholinergic medications.
back of neck can also be quite badly affected often as a result A small number of children, especially those with
of acne. numerous lesions, may develop systemic symptoms such
Dermatology 297
Ichthyosis
This is a group, if inherited disorders where the process of
keratinisation is abnormal resulting in marked scaling and
dryness of the skin, which ranges from mild to severe and
incapacitating.
The most common type is ichthyosis vulgaris, which
may appear no more than a very dry skin. A light-coloured
ne scale, which is most obvious on the limbs and tends to
spare the exures, is evident. It is inherited as autosomal
dominant.
X-linked recessive ichthyosis affects boys and is much
rarer than ichthyosis vulgaris affecting 1:2,000. It can
initially present as a collodion baby at birth with a shiny
adherent lm encasing the whole body. This shiny lm is
shed in the rst few days leaving behind either normal skin,
X-linked or more frequently lamellar ichthyosis (Figs 14.53
and 14.54).
X-linked ichthyosis is due to deciency of the enzyme
steroid sulphatase, the activity of which can be measured in
the blood to give the diagnosis. It is characterised by large
brown scales especially seen on the legs and trunk, and
affects the exures. There is a small risk of affected boys
having hypogonadism and undescended testes.
The treatment for all the ichthyoses is emollients, which
will not cure the condition but can make the individual more
comfortable. For more severely affected individuals topical
or systemic retinoids may help.
Acrodermatitis Enteropathica
There are some other conditions, which may present like
atopic eczema, whose diagnosis, it is important not to miss.
Children with atopic eczema are otherwise well so when
a child with eczema like rash has other symptoms such as
failure to thrive, diarrhoea, an odd distribution of rash or a
purpuric element to it, it is important to consider some other
less common diagnoses.
Acrodermatitis enteropathica is an autosomal recessive
disorder, which causes zinc malabsorption and deciency.
Zinc deciency can of course also result from poor intake of
zinc.
Babies affected by this have a typical eruption affecting
mainly the cheeks and chin, the hands and feet, and the nappy
area (Fig. 14.55). They usually have diarrhoea, failure to
thrive and irritability. Measuring the zinc, plasma level
points to the right diagnosis.
These children respond quickly to oral zinc sulphate but
treatment may have to be long-term.
298 Hutchison's Paediatrics
Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome is another condition, which
can present like atopic eczema but again the rash is
atypical. There is usually a haemorrhagic component with
purpura and patchier, and the child is unwell with bloody
diarrhoea, frequent infections and failure to thrive. Many
of the immunodeciency disorders can also present with an
eczematous rash but again there are other features, which
should lead to the correct diagnosis.
C H A P T E R
Haematological Disorders 15
haematopoiesis in the foetus takes place from progenitor cells
HAEMATOPOIESIS
seeded to the liver. Bone marrow haematopoiesis is present
Within a few days of embryonic implantation "blood islands" from about 10 weeks gestation and by term has taken over
develop in the human yolk sac. Cells from these islands almost all of the foetal haemopoietic function. Control of
develop into vascular endothelium and primitive blood erythropoiesis in the foetus is through hepatic erythropoietin
cells. These pluripotent stem cells known as progenitor or mediated by foetal tissue oxygen concentration. There is a
CFU-GEMM (colony forming unit, granulocyteerythroid/ switch to renal erythropoietin a few weeks after birth.
megakaryocytemacrophage) cells produce red cells, white All of the white cell series and platelets are identifiable in
cells except lymphocytes and platelets (Fig. 15.1). Most foetal blood by about 14 weeks gestation and the granulocyte
series is controlled by the hormone GSF and platelets by
thrombopoietin.
Modern haematology embraces many complicated
techniques which have added greatly to our understanding
of the nature of some of the less common disorders, e.g.
haemolytic anaemias, haemoglobinopathies, megaloblastic
anaemias, etc. None the less, the blood disorders commonly
encountered in paediatric practice can most often be dealt
with by use of relatively simple standard techniques.
Haemoglobin
The haemoglobin (Hb) concentration in blood from the
umbilical cord is high with a mean of 17 g/dl (17 g/100 ml).
Values up to 20 g/dl may be recorded. A venous sample
of the infants blood some hours after birth may reveal an
even higher Hb level with a mean of 19 g/dl, and a skin-
prick sample is likely to be still higher with a mean of 21 g/
Fig. 15.1: Haematopoiesis in the embryo and foetus dl. This rise in Hb values just after birth is probably due to
300 Hutchison's Paediatrics
red cells and haemoglobin. As the amount of iron absorbed concentration is reduced (less than 10 mg/ml). Bone marrow
is very low during the first 4 months of life the small infant shows normoblastic hyperplasia and an absence of stainable
more rapidly exhausts his storage iron (in liver and spleen) iron. Ferritin is an acute phase protein and it is increased in
and develops overt signs of iron deficiency. Unless extreme, inflammatory disease. Thus serum ferritin could be normal
the presence of maternal iron deficiency does not appear to even in the absence of iron stores.
compromise the iron endowment of the foetus. Infections,
Key Learning Point
to which the iron deficient infant is prone, further aggravate
the anaemia. Finally, the possibility of chronic blood loss Ferritin is an acute phase protein and it is increased in
from, e.g. oesophagitis, a Meckels diverticulum or hook inflammatory disease. Thus serum ferritin could be normal
worm infestation or of iron malabsorption must always be even in the absence of iron stores.
considered in cases of iron deficiency anaemia. Occult GI
bleeding can occur in infants who have been started on whole Prevention
cows milk early in life. Convenience foods are often low
in iron. Red meat, eggs and green vegetables are sources of In the term infant, iron deficiency is best prevented by the
iron. avoidance of whole cows milk as a drink until 12 months
and by the introduction of mixed feeding with foods rich in
Key Learning Points iron at the age of 4 months. In the pre-term infant iron should
be given orally from the age of 4 weeks. The term infant
Nutritional iron deficiency anaemia is seen commonly among should receive l mg of iron/kg per day and the pre-term
infants and children during their first year. infant 3 mg/kg per day.
Breast milk and cows milk are low in iron.
Also convenience foods are often low in iron. Treatment
In most cases the anaemia can be rapidly corrected with
Clinical Features oral iron unless there are good reasons for using another
route. Among the ferrous salts, such as sulphate, fumarate,
A mild degree of nutritional anaemia probably affects succinate, glutamate, gluconate and lactate, the sulphate salt
over 25% of infants during their first year. The onset is is considered to be the salt of choice. Ferrous salts show only
rarely before the fifth month of life. When the anaemia marginal differences between one another in efficiency of
is severe there is obvious pallor of skin and mucous
absorption of iron. Ferric salts are much less well-absorbed.
membranes. Splenomegaly may be present and there may be
The oral dose of iron in an average child is 36 mg of
cardiomegaly and a haemic systolic murmur. The anaemia
elemental iron/kg (maximum 200 mg) daily administered
is microcytic and hypochromic (Fig. 15.2). Serum iron is
23 times daily between meals. The therapeutic response to
markedly reduced (normal mean = 18 mol/l; 100 mg/100
iron therapy may be verified by any one of the following
ml) and the saturation of the iron binding protein of the
methods. A reticulocytosis may be noted 23 days after the
serum is reduced from 3310% or less. The serum ferritin
start of therapy with a peak rise at 710 days. The haemoglobin
concentration should rise by about 12 g/l per day or 2 g/100
ml over 34 weeks. Once normal haematological values have
been attained iron should be continued for an additional 3
months to reconstitute depleted iron stores. Epithelial tissue
changes such as atrophic glossitis and koilonychias are
usually improved, but the response is often slow. The most
common reason for lack of response in children is poor
compliance; poor absorption is rare in children. Parenteral
administration of iron as iron dextran or iron sucrose is
indicated only if it is not possible to achieve compliance with
use of oral iron or under the unusual circumstances in which
iron malabsorption occurs. GI irritation can occur with iron
salts. Iron preparations given orally can be constipating.
Fig. 15.2: Peripheral blood smear of a child with iron deficiency anae-
However, if side-effects occur, the dose may be reduced;
mia. Lymphocyte represents a normal size red cell, hence microcytic alternatively, another iron salt may be used. Neonatal
hypochromic red cells with some red cells anaemia resulting from repeated blood sampling does not
302 Hutchison's Paediatrics
respond to iron therapy. Iron supplementation may also be deficiency anaemia are similar to vitamin B12 deficiency
indicated to produce an adequate response to erythropoietins except that neuropathy is not a feature of folate deficiency.
in iron deficient children with chronic renal failure or in Also the peripheral blood and bone marrow changes in
preterm neonates. folate deficiency are identical to those found in vitamin B12
deficiency (Box 15.1).
Key Learning Points
Hypersegmentation of the neutrophils in the peripheral
Treatment of iron deficiency anaemia blood is the single most useful laboratory aid to early
Treatment with an iron preparation is indicated only in the diagnosis (Fig. 15.3). The red cell or serum folate assay
presence of a clearly demonstrable iron-deficiency state is a sensitive, reliable guide to the presence of folate
It is suggested that the possibility of thalassaemia should deficiency and remains the best way of confirming early
always be considered in children of Mediterranean or folate deficiency. Successful treatment of patients with folate
Indian subcontinent origin, prior to commencing an iron deficiency involves correction of the folate deficiency as well
supplement. as amelioration of the underlying disorder and improvement
of the diet to increase folate intake. It is usual to treat folate
deficient patients with 15 mg folic acid orally daily. Folinic
Case Study acid is also effective in the treatment of folate-deficient
A 2-year-old Asian girl presented with poor appetite and pallor. megaloblastic anaemia, but it is normally only used in
Mothers main concern was that her daughter looked pale as association with cytotoxic drugs.
compared to her siblings. There was no history of bleeding from
any orifice of her body. On examination, she was anaemic and Key Learning Points
had haemic murmur. Otherwise there was no positive finding. Megaloblastic anaemia is rare in children
Haemoglobin was 6 g/dl. There is no justification for prescribing multiple-ingredient
: Hypochromic, microcytic red cells and no target cells vitamin preparations containing vitamin B12 or folic acid
were seen. Serum ferritin less than 5 g/ml. Stools negative for Folic acid should never be given alone for vitamin B12
intestinal parasites deficiency states (because it may precipitate subacute
combined degeneration of the spinal cord).
Diagnosis: Nutritional iron deficiency anaemia..
Iron supplements are properly absorbed when taken on an Folic acid supplements taken before and during pregnancy can
reduce the occurrence of neural tube defects.
empty stomach, however, they should be taken after food to
Couples who are at a high risk of conceiving a child with neural
minimize GI side-effects; they may also discolour stools. tube defects are:
If either partner has a neural tube defect
If either partner has a family history of neural tube defects
If previous pregnancy affected by a neural tube defect
THE MEGALOBLASTIC ANAEMIAS (FOLATE If mother taking antiepileptic drugs
DEFICIENCY, VITAMIN B12 DEFICIENCY)
Folate Deficiency
True megaloblastic erythropoiesis is rare in paediatric
practise. Folate is absorbed unchanged in the duodenum and
jejunum. It is provided by most foods including meat and
vegetables. The most common cause is malabsorption of
folic acid in the older child with inadequately treated coeliac
disease. However, folate deficiency may also be caused
by inadequate intake, increased requirements (haemolytic
anaemia), disorders of folate metabolism (congenital and
acquired) drugs and increased excretion in children on special
diets. The long-term use of anti-convulsants (especially
phenytoin) has been associated with megaloblastic anaemia,
probably as a result of inhibition of conversion of dietary
folate to absorbable monoglutamates. The symptoms of folate Fig. 15.3: Megaloblastic blood picture with oval macrocytic red cells
Haematological Disorders 303
later childhood with pallor and lassitude; less often with hereditary spherocytosis Coombs test is negative. Routine
jaundice and highly coloured urine. Children may present ultrasound of the gallbladder should be done to determine
with an acute abdomen from splenic infarcts. It may remain whether biliary pigment stones have developed. These should
symptomless until adult life when biliary colic due to gall- be removed at the time of splenectomy.
stones is not uncommon. Acute haemolytic crisis with
Case Study
severe anaemia and icterus require emergency treatment
but they are, in fact, uncommon. Splenomegaly is usually A 4-year-old Caucasian boy presented with pallor and lassitude.
present whatever the degree of haemolysis in hereditary On examination, he was anaemic and had slight scleral icterus.
spherocytosis. The red cells are unable to sustain a normal He had no lymphadenopathy or hepatomegaly but had 7 cm
biconcave shape because of their metabolic defect. They are splenomegaly. His mother had splenectomy at 8 years of age.
spheroidal with a smaller diameter than normal. It is usually Haemoglobin was 6.2 g/dL, WBC 6.6 x 109/L, platelet count 300
easy to differentiate microspherocytes in well-stained blood 109/L, reticulocyte count 40 x 109/L. Blood film revealed numerous
films (Figs 15.4A and B). They appear unduly dark in colour microspherocytes. Total bilirubin was elevated at 160 g/L with an
and small in diameter than normal biconcave erythrocytes. A unconjugated bilirubin of 150 g/L. Aspartate aminotransferase
significant reticulocytosis is usually found. High figures may (AST)/alanine aminotransferase (ALT) was normal. Ultrasound
be reached during a crisis but the absence of a reticulocytosis examination of gallbladder was negative for gallstones.
does not exclude the diagnosis. Increased osmotic fragility Diagnosis: Hereditary spherocytosis.
of the red cells is an important diagnostic feature. The test
is much more reliable when performed on a quantitative Treatment
basis but is not pathognomonic of hereditary spherocytosis,
Treatment usually consists of folic acid supplementation and
being sometimes abnormal in acquired haemolytic anaemia,
splenectomy.
and infrequently it may be normal in the neonatal period. In
Splenectomy results in a return to normal health although
it does not alter the metabolic defect in the red cells. It should
always be advised in the child with hereditary spherocytosis
since even mild disease interferes with growth and well-
being. Splenectomy renders the child more susceptible
to severe bacterial infections and there is good evidence
that the risk is greatest in infancy. This can be reduced by
immunisation with polyvalent polysaccharide pneumococcal
vaccine. The vaccine should be given at least 2 weeks before
splenectomy. At present re-immunisation is recommended
every 5 years. Also Haemophilus influenzae type B
and Neisseria meningitidis (meningococcus) may cause
infection. In addition the child should receive life-long oral
A prophylactic phenoxymethyl penicillin and for those allergic
to penicillin erythromycin should be used. If the child has
not been previously immunised against H. influenzaes it
would be worthwhile giving HIB vaccine. For elective
splenectomy, HIB vaccine should ideally be given at least
2 weeks before surgery. Meningococcal group C conjugate
vaccine is recommended for children with asplenia or splenic
dysfunction. Also children who had splenectomy are at
particular risk of severe malaria. If they travel to malarious
areas, rigorous precautions are required against contracting
the disease. In our opinion splenectomy should be postponed
until the child is about 5 years old. Children should carry a
card with information about their lack of spleen. They should
B be educated on the potential risk of infection. There is no
evidence that further delay is useful, and it may be harmful,
Figs 15.4A and B: (A) Peripheral blood film of hereditary spherocyto-
sis showing microspherocytes and polychromasia. (B) Blood film of a since the risk of cholelithiasis increases in children after the
child with elliptocytosis age of 10 years. Control of the anaemia can meantime be
Haematological Disorders 305
achieved by blood transfusion. Rarely, in the neonatal period Table 15.2: Globin chains of normal haemoglobins
a rising serum bilirubin level may necessitate an exchange
Adult - Hb A 2 + 2
transfusion to eliminate the risk of kernicterus. Box 15.2
shows the indications for splenectomy in children. - Hb A2 2 + 2
Foetal - Hb F 2 + 2
Box 15.2: Indications for splenectomy
H Barts 4
Medical Hb H 4
Hereditary spherocytosis
Hereditary elliptocytosis involves suppression of alpha-chain production and as alpha
Severe pyruvate kinase deficiency chains are shared by Hb-A, Hb-A2 and Hb-F it is to be
Autoimmune haemolytic anaemiawarm IgG antibody type
Chronic immune thrombocytopenic purpura expected that alpha thalassaemia would become clinically
Hypersplenismwho develop significant anaemia or manifest in foetal life.
thrombocytopenia Tetramers of gamma chains may be produced (Hb-
Sickle cell anaemiaacute splenic sequestration crisis Barts) which result in a clinical picture very similar to
Thalassaemia majorincreasing transfusion requirements
that in hydrops foetalis with massive hepatosplenomegaly
caused by hypersplenism
Surgical and generalised oedema, with stillbirth or early neonatal
Splenic trauma, splenic cysts, tumours and Gauchers death. In haemoglobin, H disease, on the other hand,
disease tetramers of gamma chains (Hb-H) are present in excess
Thalassaemia majormassive splenomegalyfor relief and there is considerable clinical variability: From a picture
from mechanical stress
indistinguishable from Cooleys anaemia to an absence of
specific signs. Heterozygotes for alpha thalassaemia cannot
The Thalassaemias
be detected with certainty. The thalassaemias are uncommon
The thalassaemia syndromes are characterised by deficiencies in persons of British stock but they are commonly seen in
in the rate of production of specific globin chains. A children of Mediterranean, Middle Eastern, Indian, Pakistani
microcytic hypochromic anaemia results. origin as well as in South-East Asia where they constitute a
major and distressing public-health problem. The distribution
Developmental Changes in Haemoglobin Synthesis parallels with that of falciparum malaria for which the trait
Normal adult and foetal haemoglobin contains four globin appears to have a selective advantage. The clinical account
chains (Table 15.2). The thalassaemia syndromes are a which follows refers only to the most common variety of
heterogeneous group of disorders of haemoglobin (Hb) beta thalassaemia in the homozygous state (beta thalassaemia
synthesis resulting from a genetically determined reduced majorCooleys anaemia).
rate of production of one or more of the four globin chains of
haemoglobin (alpha), (beta), (delta) and (gamma). Key Learning Point
This results in an excess of the partner chains which continue The clinical severity of beta thalassaemia ranges from
to be synthesised at a normal rate. The alpha chain types are thalassaemia minor (usually symptomless), thalassaemia
carried on chromosome 16 and the beta, delta and gamma intermedia (with anaemia plus splenomegaly but not
transfusion dependent) to thalassaemia major (transfusion
on chromosome 11. Each type of thalassaemia can exist in
dependent).
a heterozygous or a homozygous state. The most common
is beta thalassaemia (Cooleys anaemia) which involves
suppression of beta-chain formation. In homozygotes, there
is a severe anaemia with a high level of Hb-F (alpha 2, Clinical Features
gamma 2), some Hb-A2 (alpha 2, delta 2) and a complete This condition is characterised by a chronic haemolytic
absence of, or greatly reduced (normal) Hb-A (alpha 2, beta anaemia which becomes manifest later in infancy, but
2). Heterozygotes on the other hand suffer from only mild not in the newborn. Pallor is constant and icterus not
anaemia with reasonable levels of Hb-A, somewhat raised uncommon. Splenomegaly increases throughout childhood.
Hb-A2, but Hb-F levels rarely in excess of 3%. Children of Hepatomegaly is also present, largely due to extramedullary
the mating of two such heterozygotes have a 1 in 4 chance of erythropoiesis. Pathognomonic skeletal changes can be
suffering from the homozygous state for beta thalassaemia. demonstrated radiographically. Membranous bones of the
They will not present clinically, however, until later infancy skull are thickened and lateral views of the skull show the
when the effects of beta-chain suppression develop because "hair on end" appearance (Figs 15.5A and B). The facies
Hb-A formation fails to take over from the production of has a Mongoloid appearance due to thickening of the facial
Hb-F in the normal way. The other main type of thalassaemia bones. The hands may become broadened and thickened due
306 Hutchison's Paediatrics
Treatment
The prognosis in beta thalassaemia has improved in recent
years and could improve still further if the best available
management were to be everywhere pursued. This has been
well-described under three major categories:
1. Choice of transfusion scheme;
2. Hypersplenism and splenectomy and
3. Iron chelation therapy.
The objective of the transfusion scheme should be to
maintain haemoglobin between 10 g/dl and 14 g/dl with pre-
Fig. 15.7: Peripheral blood smear of a child with homozygous beta-
thalassaemia showing a target cell
transfusion haemoglobin of 1011 g/dl. Patients should have
their red cells genotyped to reduce the risk of sensitisation
to changes in the metacarpals and phalanges. These bone due to repeated blood transfusions. This regimen will reduce
changes are due to the hyperplasia of the bone marrow the stimulus to unlimited bone marrow expansion and so
(Fig. 15.6). Blood examination shows severe hypochromic prevent such undesirable manifestations as cardiomegaly,
anaemia with marked anisocytosis and poikilocytosis. Many stunting of growth and the disfiguring Cooleys facies. This
microcytic red cells lie side-by-side with large (1218 mm), regimen has become standard therapy for beta thalassaemia
bizarre-shaped cells. In some of the latter cells and abnormal major. On the other hand, the degree of hypersplenism has
central mass of haemoglobin gives to them the appearance not always been appreciated and it may be marked even in
of "target cells" (Fig. 15.7). Reticulocytosis is marked and the absence of thrombocytopenia or leucopaenia. Its presence
Howell-Jolly bodies may be numerous. Serum unconjugated greatly increases the blood requirements. The rate of splenic
Haematological Disorders 307
enlargement is variable even in well-transfused patients Hb-S variety (homozygous SS disease).The other sickling
and the massive size of the spleen may lead to abdominal syndromes are the double heterozygous states such as Hb SC
discomfort. Often the transfusion requirement increases disease (HbSC) and sickle beta thalassaemia (Hb S Beta thal).
as the spleen enlarges. Eventually most patients undergo The abnormality in Hb-S lies in the beta peptide chains, the
splenectomy which usually leads to improved physical alpha chains being normal. The aberration in the beta chains
well-being and a reduction in the transfusion requirement. is due to the substitution of valine for glutamic acid in the
Splenectomy should be delayed if possible until the child No.6 position. Heterozygotes reveal the sickle cell trait (AS)
is 5 years of age because of the risk of post-splenectomy and their haemoglobin is composed of about 60% Hb-A and
infection. Splenectomised children should receive life-long 40% Hb-S. The trait is found in about 79% of American
oral penicillin prophylaxis and polyvalent polysaccharide black people but it is much more prevalent in some African
pneumococcal and HIB vaccine. tribes. It provides increased resistance to malignant tertian
Desferrioxamine is the only effective agent available malaria. Hb-S has a distinctive electrophoretic pattern which
for chronic iron chelation. This should be commenced to is due to its abnormal molecular structure. This type of
prevent iron overload before the third birthday and when the haemoglobin forms crescent-shaped crystals under reduced
infant is dry at night. Desferrioxamine can be administered oxygen tension and it is this property which is responsible for
subcutaneously overnight with a small infusion pump. There the sickled shape of the erythrocytes in people who possess
is also general agreement that ascorbic acid 100200 mg the gene. Haemolysis in sickle-cell anaemia appears to be
daily by mouth enhances the effectiveness of desferrioxamine due mainly to impaction of the sickled cells in the capillaries,
therapy. Ferritin levels should be used to monitor iron load. especially in organs where the oxygen tension is low.
Iron overload is responsible for cardiac, hepatic and Capillary obstruction leads to infarcts in various organs, e.g.
endocrine problems which are reduced by chelation therapy. spleen, intestine, bones, kidneys, heart, lungs and brain.
Due to the hypothalamic-pituitary dysfunction testosterone or
Key Learning Point
oestrogen supplements may be indicated for hypogonadism.
Growth hormone (GH) may also be required. Insulin is Most infants with sickle cell disease (SS) are functionally
required for those who develop diabetes. Children will asplenic by 1 year of age because of repeated splenic
require folic acid supplements due to increased demands of infarction.
increased erythropoiesis. Bone marrow transplantation is
the only curable option for those with fully matched human Clinical Features
leukocyte antigen (HLA) compatible sibling donors.
The only rational approach to thalassaemia on a world The sickle cell trait (AS) is symptomless unless it is
scale must lie in programmes developed towards prevention. associated with another haemoglobinopathy or with
These have been based on prospective detection of hetero thalassaemia. Sickle cell anaemia (SS) often presents during
zygotes followed by genetic counselling. the first year with pallor, listlessness and mild jaundice,
but not before 6 months of age. The onset of symptoms is,
Beta Thalassaemia Minor and Thalassaemia however, delayed for 6 months or longer until the Hb-F of
Intermedia the infant has been replaced by Hb-S. In some cases, there
are recurrent haemolytic crises with acute symptoms such
The beta thalassaemia heterozygotes are asymptomatic. The as severe abdominal pain and rigidity, pain in the loins,
haemoglobin is slightly reduced to 912 g/dl and the red cell limb pains, localised paralyses, convulsions or meningism.
count is high. On the contrary, patients with thalassaemia Cerebrovascular occlusion can lead to hemiplegia and cranial
intermedia are symptomatic. They have a milder clinical nerve palsies.
course than those with thalassaemia major and are not The lung is also one of the major organs involved in
blood transfusion dependent and should not be subjected to sickle cell disease. Clinical lung involvement commonly
transfusion inappropriately. takes two major forms: (1) the acute chest syndrome and
(2) sickle cell chronic lung disease. Acute chest problem is
Sickle Cell Disease manifested by fever, chest pain and infiltrates in the chest
radiograph. Chronic lung disease is due to repeated episodes
Aetiology of infection and infarction.
This disease is almost confined to the black African Symmetrical painful swellings of the fingers and feet
races. It is one of the most prevalent autosomal recessive (hand foot syndrome-dactylitis) may develop due to infarction
haemoglobinopathies. Homozygotes suffer from sickle of the metacarpals and metatarsals. X-rays show severe bone
cell anaemia in which all of their haemoglobin is of the destruction and periosteal reaction. They may also reveal
308 Hutchison's Paediatrics
occlusive crises, rest in bed and relief of pain are essential. The
pain of mild sickle-cell crises is managed with paracetamol,
an NSAID, codeine or dihydrocodeine. Severe crises may
require the use of morphine or diamorphine. Dehydration
and acidosis should be quickly corrected. With careful
supervision and the use of blood transfusion many children
with sickle cell anaemia (SS) reach adult life. Splenectomy
is indicated when there is evidence of hypersplenism. Folate
deficiency is particularly common in sickle-cell disease and
5 mg of folic acid should be given daily. Death can occur
suddenly from cardiac failure, renal failure or cerebral
infarction and patients of black African extraction should
always be tested for sickling before anaesthesia. Sickle
Fig. 15.8: Peripheral blood smear of a child with sickle cell disease cell testing is an important consideration in any child from
showing sickled red cell geographical areas where sickle cell disease is prevelant
before any elective surgery is carried out. Postoperative
radial striations in the skull. Chronic haemolytic anaemia preparation may require blood transfusion and hypoxia and
interferes with growth and nutrition so that the child is often acidosis should be avoided during the operation. Antenatal
stunted in later years. Splenomegaly may be marked, but diagnosis can be made on chorionic villous biopsy in the first
sometimes disappears in later childhood. Cholelithiasis may trimester of pregnancy. At present the role of bone marrow
develop as in other haemolytic anaemias. In adults the large transplantation is limited. Some patients benefit clinically
joints may become swollen and painful with serious crippling. from hydroxyurea. Hydroxyurea can reduce the frequency
The peripheral blood shows a normochromic anaemia, of crises and the need for blood transfusions. Some children
reticulocytosis and polymorphonuclear leucocytosis. In with sickle cell disease may suffer from delayed puberty and
addition there is an increase in the serum unconjugated may require sex hormone replacement therapy.
bilirubin and a decrease in red cell osmotic fragility. In a
crisis excess urobilinogenuria is marked. Sickled cells may Other Haemoglobinopathies
be seen in ordinary blood films (Fig. 15.8). The diagnosis can
be confirmed by demonstration of the characteristic mobility It has already been noted that there are three normal
of Hb-S on starch gel electrophoresis. Children affected with haemoglobins each of two identical pairs of globin polypeptide
SS also have some Hb-F in their circulation. chains with an iron-containing haem group inserted into each
chain. In the healthy adult 98% of the Hb-A is composed of
Case Study two alpha and two beta chains (22). About 2% of adult Hb
A 3-year-old Nigerian boy presented with pallor and a painful is Hb-A composed of two alpha and two delta chains (22).
swollen right index finger. On abdominal examination he had Foetal Hb or Hb-F is composed of two alpha and two gamma
splenomegaly 4 cm below the left costal margin. Most likely chains (22). However, over 100 abnormal haemoglobins
diagnosis is sickle cell disease with dactylitis. have now been recognised in which the aberration generally
consists of a single amino acid substitution in one pair of
Treatment the peptide chains due to gene mutation. That is to say, they
There is no cure for sickle cell disease but blood transfusions are determined by alleles of the genes for normal Hb-A,
are frequently required for anaemia. Due to the high Hb-A2 or Hb-F. The different haemoglobins carry different
incidence of serious bacterial infections in patients with electrical charges so causing them to move at different speeds
SS, the index of suspicion for infection should be high. in an electrical field and they can usually best be identified
Antibiotic choice should include agents effective against by electrophoresis. The different haemoglobinopathies vary
pneumococcus, Haemophilus influenzae, Salmonella and widely in their effects, from no apparent effect on health to a
Staphylococcus aureus. The risk of pneumococcal infection fatal disease (e.g. Hb-S). The homozygote for the gene will,
in particular is high in the first 2 years of life. Therefore of course always be much more severely affected than the
penicillin prophylaxis should be started by the age of 4 heterozygote, as in sickle-cell disease.
months. Pnemococcal vaccine, haemophilus influenzae type The homozygote for Hb-C presents with manifestations
b vaccine, an annual influenza vaccine and prophylactic similar to those in SS but sickling and bone changes do
penicillin reduce the risk of infection. Hepatitis B vaccine not occur. The heterozygote is usually symptomless but
should be considered if the child is not immune. In vaso- blood films show target cells and there is increased osmotic
Haematological Disorders 309
resistance. The homozygote for Hb-E on the other hand, PD deficiency in Asians. It is X-linked and haemolysis is
suffers only from a mild normochromic anaemia with mainly confined to males. The magnitude of haemolysis is
numerous target cells and increase in osmotic resistance, while variable and is dependent on the degree of oxidant stress.
the heterozygote is asymptomatic. Haemoglobin M disease is Most variants of G-6-PD deficiency cause acute haemolysis
very different in that it causes methaemoglobinaemia. and not chronic haemolysis on taking a number of common
Having now considered thalassaemia and a few of drugs. They are also susceptible to developing acute
the haemoglobinopathies in both the homozygous and haemolytic anaemia upon ingestion of fava beans (broad
heterozygous forms, it remains to point out that some beans, Vicia faba); this is termed favism and can be more
anaemic children are found to have inherited the genes for severe in children or when the fresh fava beans are eaten
two abnormal haemoglobins, one from each heterozygous raw.
parent, or more commonly for beta thalassaemia and The diagnosis of G-6-PD deficiency is suggested by
one abnormal haemoglobin. They are, in fact, mixed or Coombs negative haemolytic anaemia associated with drugs
double heterozygotes. Thus there has been described beta or infection. The specific diagnosis of G-6-PD deficiency
thalassaemia with haemoglobin S (or C, D or E) as well as can be made by spectrophotometric enzyme measurements.
S/C, S/D combinations, etc. The effects produced by these Special stains of the peripheral blood may reveal Heinz
states depend upon the peptide chains involved. Thus, if both bodies during haemolytic episodes.
abnormal genes affect the same type of chain the effects are
much more severe than if they affect different chains, i.e. the Box 15.3: Drugs commonly associated with acute haemolysis in
Treatment
most G-6-PD deficiency individuals
mixed heterozygous state is more crippling than the double There is no specific treatment for haemolysis due to
heterozygous state. For example, in both S/C disease and Primaquine
G-6-PD. Patients should be educated about which drugs to
Pamaquine
Hb-S/beta thalassaemia the beta chains are involved. This avoid. The risk and severity of haemolysis is almost always
Sulphanilamide
means that no Hb-A can be formed because no normal beta Sulphapyridine
dose related. The most common drugs implicated are the
chains can be produced, a state called "interaction" and the Sulphamethoxazole
sulphonamide antibiotics and antimalarial drugs and other
resulting clinical manifestations are very similar in severity Salazopyrin
potential sources
Septrin of oxidant stress (Box 15.3). G-6-PD
to the homozygous S/S state (sickle cell anaemia). On the deficiency
Dapsonemay protect against malaria.
other hand, when both an alpha and a beta chain abnormality Thiazolesulphone
are inherited (e.g. as in alpha thalassaemia with beta chain Nitrofurantoin
haemoglobins S, C or E) the effect is usually no more severe Nalidixic acid
Naphthalene in mothballs, menadione, methylene blue,
than when only one of the abnormalities is present because quinidine, quinine, Rasburicase
no "interaction" has taken place. Some of these abnormal
haemoglobin states can only be accurately identified by
family studies, employing sophisticated techniques. The Pyruvate Kinase Deficiency
matter is of practical importance because of the differences Pyruvate kinase deficiency is the commonest red cell enzyme
in prognosis. deficiency in north Europeans. It presents in the neonatal
period with anaemia and jaundice. Diagnosis requires
Glucose-6-Phosphate Dehydrogenase Deficiency
measurement of pyruvate kinase in the red blood cells (RBC).
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency The degree of haemolysis varies greatly and is sometimes
is the most common red blood cell enzyme abnormality severe enough to require frequent RBC transfusions. There
associated with haemolysis. More than 300 types of G-6-PD is a beneficial response to splenectomy.
have been described. Most of these variants are enzymatically
normal and are not a cause of clinical problems. It affects Autoimmune Haemolytic Anaemia
people throughout the world with the highest incidence in
individuals originating from most parts of Africa, from most
Aetiology
parts of Asia, from Oceania and from Southern Europe. G-6-
PD deficiency is more common in males than it is in females. This is not a common problem in paediatric practice but it may
Glucose-6-phosphate dehydrogenase A is the commonest present as an acute emergency. There are two major classes
variant associated with haemolysis and is found in 1015% of of antibodies against red cells that produce haemolysis in
African-Americans. G-6-PD B is the normal enzyme found man; (1) IgG and (2) IgM. Autoimmune haemolytic anaemia
in Caucaseans and many Negroes. G-6-PD Mediterranean (AIHA) can be warm or cold antibody type. The IgM
is the commonest variant in white people of Mediterranean antibody is generally restricted to the clinical entity of cold
origin and G-6-PD Canton is the commonest cause of G-6- haemagglutinin disease because it has a particular affinity
310 Hutchison's Paediatrics
for its red cell antigen in the cold (010C). IgM-induced immunoglobulin is indicated for exposed non-immune
immune haemolytic anaemia is most commonly associated children.
with an underlying mycoplasma infection or cytomegalovirus, In children who do not respond to steroids, immuno
mumps and infectious mononucleosis infections. suppression has been used, e.g. cyclosporin, cyclo
The IgG antibody usually has its maximal activity at 37C phosphamide and high dose intravenous immunoglobulin.
and, thus, this entity has been termed warm antibody induced Blood transfusion may be required.
haemolytic anaemia. IgG-induced immune haemolytic
anaemia may occur without an apparent underlying disease PAROXYSMAL NOCTURNAL
(idiopathic disease); however, it may also occur with HAEMOGLOBINURIA
systemic lupus erythematosus (SLE), rheumatoid arthritis
and certain drugs. Warm type AIHA can be severe and life- Paroxysmal nocturnal haemoglobinuria (PNH) tends to occur
threatening. in young adult men and is extremely rare in children. As
the name suggests, there is a haemolytic anaemia and the
Clinical Features urine often contains haemosiderin and may also contain
In some children the disease has an alarmingly acute onset haemoglobin. Patients develop iron deficiency due to
with fever, backache, limb pains, abdominal pain, vomiting haemosiderinuria. Bone marrow transplantation may be
and diarrhoea. Haemoglobinuria and oliguria may be curative.
present. Pallor develops rapidly and icterus is common.
Frequently, the pallor, listlessness and mild icterus develop MICROANGIOPATHIC HAEMOLYTIC ANAEMIA
more insidiously. Splenomegaly is common. The urine may This condition refers to red cell fragmentation and damage
be dark in colour due to the presence of excess urobilinogen. in the microcirculation and appears to be the result of small-
Reticulocytosis is often marked and there may be many vessel disease in part due to endothelial damage and the
erythroblasts in the peripheral blood. Spherocytosis with an presence of fibrin strands. In children the most common
increased fragility of the red cells may simulate congenital cause is haemolytic uraemic syndrome (HUS), although it
spherocytosis. However, in acquired haemolytic anaemia is sometimes seen in children with burns and following the
Coombs test is positive and serum unconjugated bilirubin insertion of some types of heart valve prostheses.
concentration is increased.
APLASTIC AND HYPOPLASTIC ANAEMIA
Treatment
This group of anaemias is poorly understood and clearly
In many patients with IgG or IgM-induced immune haemolytic
contains a considerable number of quite separate diseases
anaemia no therapeutic intervention is necessary, since the
which present clinically in somewhat similar ways. The
haemolysis may be mild. However, in some children with
defect in erythropoiesis may affect all elements of the marrow
significant anaemia complete recovery follows emergency
or only one, such as the erythropoietic tissue. There may be
blood transfusion. In less acute cases the haemolytic process
virtually no formation at all of the precursors or red cells,
continues after transfusion. Corticosteroids are of great value
leucocytes or platelets. Fortunately, these conditions are not
in the treatment of AIHA. Oral prednisolone 2 mg/kg per day
common, but those to be considered here occur sufficiently
should be given until the haemolysis is brought under control.
frequently in paediatric practice to merit the attention of all
Thereafter, the dosage is progressively reduced to achieve
who have to handle sick children.
the smallest maintenance dose compatible with a reasonable
haemoglobin value (1012 g/dL). When long-term steroid
CONGENITAL HYPOPLASTIC ANAEMIA
therapy proves necessary a careful watch must be kept
(BLACKFAN DIAMOND ANAEMIA)
for undesirable side-effects such as osteoporosis, diabetes
mellitus, etc. When haemolysis cannot be controlled with
a reasonable dosage of steroid, the question of splenectomy
Aetiology
arises. Prolonged courses of corticosteroids increase This disease presents in early infancy as an apparent aplasia
susceptibility to infections and severity of infections; clinical of the red cells. Granulocytes and platelets are unaffected.
presentation of infections may also be atypical. Unless they In most cases, the bone marrow shows a gross deficiency or
have had chickenpox, children receiving oral or parenteral erythroblasts but shows normal maturation of myeloid and
corticosteroids for indications other than replacement should megakaryocyte cells. The incidence is the same in boys as
be considered as being at risk of having severe chickenpox. in girls but the disease tends to be milder in its effects on
Therefore, passive immunization with varicella-zoster boys. Its occurrence in siblings has been reported in several
Haematological Disorders 311
Aetiology
This autosomal recessive disorder affects all three elements
Fig. 15.9: Marrow film of a child with Blackfan Diamond anaemia
virtually no red cell precursors on the film
of the bone marrow (pancytopaenia). Chromosomal studies
in some cases have revealed an abnormally high number
families and family studies have suggested an autosomal of chromatid breaks, endoreduplications and other minor
recessive mode of inheritance. abnormalities.
confirmed. Also successful bone marrow transplantation has is a defect or deficiency of osteoclasts or their precursors
been reported in patients with Fanconis anaemia. which are derived from the pluripotent haemopoietic stem
cells. Bone resorption is inhibited.
ACQUIRED HYPOPLASTIC ANAEMIA
Clinical Features
This is a rare disease in childhood and most cases are
"idiopathic". The bone marrow is rarely completely aplastic The disease may present in infancy with progressive loss of
in such patients. Some cases are secondary to the toxic effects vision due to optic atrophy, with cranial nerve palsies or
of drugs such as chloramphenicol, phenylethylacetylurea, with deafness. In later childhood the mode of presentation
carbimazole, thiouracil, phenybutazone and gold salts. is a pathological fracture or increasing pallor. The anaemia
is leucoerythroblastic in type. There is progressive
Clinical Features hepatosplenomegaly. The most characteristic diagnostic
signs are to be found in radiographs of the skeleton (Figs
The onset may be acute or insidious with increasing pallor,
15.10A to C). The bones, including the base of the skull,
listlessness, malaise, bruises, purpura and sometimes
ribs, vertebrae, scapulae and pelvis show increased density.
bleeding from mucous membranes. Death is due to
Typical zones of decreased density can be seen at the
haemorrhage into internal organs or to intercurrent infection.
metaphyses and running parallel to the borders of scapulae
The blood shows a normocytic, normochromic anaemia,
and ilia; these still contain marrow. This disease should be
thrombocytopenia, leucopaenia and granulocytopaenia.
differentiated from pyknodysostosis. This is an autosomal
Bone marrow must always be examined by needle biopsy
recessive disease that resembles osteopetrosis except that
or trephine. Marrow examination is, furthermore, the only
the clinical manifestations are mild and not associated with
way in which hypoplastic anaemia can be distinguished from
haematologic or neurologic abnormalities.
aleukaemia to leukaemia. The prognosis is grave when the
marrow examination reveals gross hypoplasia of all the blood Treatment
forming elements, but in less severe cases there is always
hope of a spontaneous or induced remission. It is now possible to cure some infants with the severe
form of the disease by bone marrow transplantation from
Treatment a histocompatible sibling. Infants with compatible donors
should be transplanted as early as possible to avoid irreversible
Life can be prolonged by repeated transfusions of packed damage from bone encroachment on cranial nerves.
red cells. Platelet transfusions can also help to prolong life.
Remissions can sometimes be obtained with a combination of THE THROMBOCYTOPAENIC PURPURAS
prednisolone and oxymetholone as described for the treatment
of Fanconis anaemia. Antilymphocytic immunoglobulin Purpura is an extremely common clinical phenomenon in
given intravenously via a central line over 1218 hours each childhood and has many causes. The principal pathogenic
day for 5 days produces a response in about 50% of cases factors are capillary defects and thrombocytopaenia,
of acquired hypoplastic anaemia; the response rate may be sometimes both being present. In most cases the purpura is
increased when ciclosporin is given as well. However, the symptomatic of another disease. It occurs due to decreased
treatment of choice is bone marrow transplantation from capillary resistance or bacterial micro-emboli in acute
infections such as meningococcal (and other) septicaemia,
histocompatible sibling or family donor. Bone marrow
bacterial endocarditis, typhus and typhoid fever, scarlet
transplantation is more likely to be successful if blood
fever, etc. It may arise in scurvy, uraemia and snake-bite.
transfusions have been irradiated and kept to a minimum to
Severe intrapartum hypoxia sometimes causes petechiae,
avoid sensitisation to donor transplantation antigens.
especially over the head, neck and shoulders of the
newborn. A similar mechanical effect is sometimes seen in
ALBERS-SCHNBERG DISEASE (OSTEOPETRO- the child who has had a severe and prolonged convulsion
SIS, MARBLE BONES) and in whooping cough. Symptomatic thrombocytopenic
purpura occurs in leukaemia, hypoplastic anaemia and
Aetiology in states of hypersplenism. Fragmentation of platelets as
This is a genetic disorder of bone, usually autosomal recessive. well as red cells, with thrombocytopaenia and haemolytic
The cortex and trabeculae of the bones are thickened and anaemia may occur in cases of giant haemangioma and after
the marrow is crowded out. Extramedullary erythropoiesis cardiac surgery. Congenital defects in the capillaries are
in the liver and spleen may prevent anaemia for a variable seen in such rare conditions as hereditary haemorrhagic
period. It is now recognised that the cause of osteopetrosis telangiectasia (Oslers disease) and cutis hyperelastica
Haematological Disorders 313
Clinical Features
Most cases in childhood have an acute onset. The peak age
is 24 years with a male:female ratio of 1:1. There has
frequently been a recently preceding, non-specific upper
respiratory infection or other common childhood illness and
immunisations have been associated. The first manifestation
may be bleeding from mucous membranes such as epistaxis,
bleeding gums or haematuria. Generalised purpura and/or
ecchymoses are characteristic and often profuse. The spleen
may be palpable but never becomes very large. Life may be
C endangered in severe cases by blood loss or by subarachnoid
Figs 15.10A to C: (A) Osteopetrosis showing zones of increased haemorrhage. The differentiating characteristic of this acute
density at metaphyseal ends of long bones, (B) Face spectacles or form is the spontaneous and permanent recovery within 6
showing "White spectacle sign", (C) Showing increased density in ribs months of onset.
314 Hutchison's Paediatrics
Treatment
Apart from blood and platelet transfusions little could be done
for children with this disease until recently. There is a good
response to splenectomy. Therefore in spite of the risks of
splenectomy in an immunocompromised child, splenectomy
may be justified. Otherwise bone marrow transplantation is
the only curative treatment for this disease. Fig. 15.12: Diagrammatic representation of the coagulation cascade
316 Hutchison's Paediatrics
Haemophilia A
Aetiology
A B
Haemophilia A is the second most common inherited Figs 15.13A and B: (A) AP and (B) lateral view of the knee showing
haemorrhagic disorder occurring in all ethnic groups. marked enlargement of the epiphyses around the knee, narrowing of
Deficiency of functionally active factor VIII is inherited as the joint space, mild periarticular osteopaenia, widening of the inter-
an X-linked recessive trait affecting males. Affected females condylar notch and mild increase in the soft tissue density within the
joint itself, corresponding to haemosiderin deposition
are extremely rare.
presenting features include epistaxis, prolonged bleeding The problems are seen in haemophilia changing as the
from cuts or dental extractions and excessive bruising. GI treatment advances. Recombinant products will hopefully
bleeding can occasionally be alarming and menorrhagia may stop the transmission of viral infection and consequently
be a problem in the adult. the liver disease. Prophylaxis will reduce damage to joints
with less painful chronic arthropathy and the need for
Diagnosis replacement later in life. Home treatment allows a more
normal life with less dependency on the haemophilia
The bleeding time is prolonged because of abnormal platelet
centre.
adhesion. The APTT is prolonged relative to the reduction in
factor VIII. The vWF:Ag and ristocetin co-factor activities
DISSEMINATED INTRAVASCULAR
(measurement of vWF activity) are reduced. The PT is
COAGULATION CONSUMPTION
normal.
COAGULOPATHY
Management of Haemophilia A, Haemophilia B Disseminated intravascular coagulation (DIC) is the
and Von Willebrand Disease commonest acquired haemostatic defect that occurs when
there is in vivo activation of the coagulation mechanism
All children who are likely to require blood products on resulting in an accelerated rate of conversion of fibrinogen
a regular basis should be vaccinated against hepatitis A to fibrin. Fibrin may or may not be deposited within blood
and B. vessels but resulting in disseminated microthrombi. It is
Alternatives to blood products should be used if always caused by some underlying disease process. Infection
appropriate and, when not, recombinant products should is the most common cause of DIC. Within this category
be used to avoid the risk of viral transmission. bacterial septicaemia (gram negative bacterial infections)
Most children with severe haemophilia A will need with associated septic shock is the most frequent infectious
Factor VIII concentrate and this should be recombinant. cause of DIC. Haemolytic uraemic syndrome, meningococcal
Factor VIII 1 U/kg will raise the Factor VIII:C level septicaemia, falciparum malaria, haemolytic transfusion
by 2 IU/dL and has a half-life of 812 hours. For reactions and some snake venoms can induce a consumption
mild haemorrhage a level of 30 IU/dL is required, for coagulopathy. Virus-induced DIC occurs predominantly in
established haemarthrosis a level of around 50 IU/dL and immunocompromised patients. In children one of the most
for surgery 80100 IU/dL are recommended. fulminant of DICs follows meningococcal septicaemia.
Haemophilia B replacement therapy will need Factor IX Fungal infections are rarely a cause of DIC. Regardless of
concentrate. Factor IX concentrate 1 U/kg will raise the the underlying primary disease in the majority of patients the
FIX:C level by approximately 1 IU/dL and the half-life is main clinical finding is bleeding and only a small number of
about 24 hours. Minimum level of FIX:C of 20 IU/dL is patients will show thrombosis or thromboembolic episodes.
necessary for early bleeding episodes, 40 IU/dL for more Microthrombi formation can lead to the syndrome of Purpura
advanced muscle or joint bleeding and an initial level of fulminans, which is characterised by peripheral gangrene of
60 IU/dl for surgery. fingers and toes (Fig. 15.14).
Treatment of mild vWD is with desmopressin if this has
been shown to raise the vWF and FVIII:C into a haemostatic
range. If not, treatment is with vWF concentrates or
FVIII concentrates, which contain adequate amounts of
vWF. By definition, these will not be FVIII recombinant
products and should be virucidal treated.
Boys with severe haemophilia A and B generally
receive prophylactic treatment thrice and twice weekly,
respectively. This will greatly reduce the frequency of
bleeds and thus chances of reduced arthropathy.
About 10% of boys with haemophilia A may develop
antibodies to FVIII:C when FVIII replacement fails to
stop bleeding. Recombinant FVIII is now used to bypass
the inhibitor. A smaller percentage (6%) of boys with Fig. 15.14: A child with purpura fulminans who developed gangrene
haemophilia B develops inhibitors. of both feet
318 Hutchison's Paediatrics
Prognostic Factors
Prognostic factors may be influenced by the treatment given:
WBC and age are important prognostic indicators and are
used to stratify treatment. Children with a WBC more
than 50109/L and those more than 10 years of age have
a less favourable outcome than those who are younger
with a lower WBC. Infants less than 1 year of age have a
particularly poor outlook.
Girls have a more favourable prognosis than boys.
Immunophenotype
Common ALL or B-lineage disease does better than
Fig. 15.16: Photomicrograph of bone marrow of a child with acute
myeloid leukaemia showing myeloblasts T-cell ALL. Mature B-cell ALL is more characteristic of
a Burkitt type lymphoma than a leukaemia and is treated
morphology, the final diagnosis of ALL rests on confirmatory as such.
cytochemical staining patterns, immunophenotype and cyto Cytogenetics
genetic studies. These studies are of therapeutic significance Hyperdiploidy and t(12,21) are favourable; near haplo
in lymphatic leukaemias. diploid, t(9,22) and t(4,11) are poor prognostic indicators.
AML 1 amplification also appears to be associated with a poor
MENINGEAL AND TESTICULAR LEUKAEMIA outlook.
Meningeal and testicular leukaemia became a major problem
Management
when the duration of life for children with acute leukaemia
progressively lengthened as the result of treatment with Supportive Care
modern anti-leukaemic drugs. This manifestation commonly
develops in patients who are in complete haematological Children should receive adequate intravenous hydration
remission and the incidence has exceeded 50% in some and allopurinol prior to commencing therapy. They may
series. Not infrequently the meningeal relapse coincides require red cell and platelet support to correct anaemia and
with a systemic relapse. It is probable that a few nests of thrombocytopenia and antibiotics for febrile neutropenia.
leukaemic cells are already present when the patient first
presents and as the cytotoxic drugs do not readily cross
Chemotherapy
the blood-brain-barrier (BBB) these neoplastic cells are The outlook for standard-risk ALL is now at least 7080% and
able to multiply in the largely protected environment of the this is achieved with combination intensive chemotherapy.
320 Hutchison's Paediatrics
The rate of cell kill is a vital prognostic indicator (the faster Treatment
the disease clears the better the outcome).
About 90% of children with AML achieve remission with
one or two courses of intensive combination chemotherapy.
Treatment Usually a total of four blocks of treatment are required.
Treatment of acute lymphoblastic leukaemia is arbitrarily Allogenic bone marrow transplantation is reserved for those
divided into the following children in whom response to chemotherapy is slow. The
disease free survival is now in the region of 60%.
Induction Therapy
Stem Cell Transplantation
This refers to the initial weeks of treatment, which aims
to eradicate disease from the bone marrow and allow it Stem cells are primal undifferentiated cells which retain
to repopulate with normal cells. Children are stratified by the ability to differentiate into other cell types. This unique
their age (< 10 years) and by WBC (< 50x109/l) to the ability allows the stem cells to act as a repair system for the
intensity of their induction therapy. The combination of body and replenishing other cells as long as the organism is
alive, thus change the face of human disease.
dexamethasone (superior to prednisolone because of better
The sources of stem cells are bone marrow, blood from
control of CNS disease), vincristine and asparaginase
placenta and umbilical cord. Stem cell transplantation may be
daunorubicin, depending on the childs age and WBC results
defined as autologous (recipients own stem cells), syngeneic
in remission in at least 95% of children.
(twins stem cells) or allogenic (stem cells from sibling, non-
Intensification/Consolidation: The intensity is tailored to sibling related or unrelated donor).
the prognostic group. Combination chemotherapy is used to Allogenic treatment stem cell transplantation is generally
prevent development of drug resistance. employed in leukaemia and primary bone marrow disorders.
Stem cell transplantation has also been used in Hunter
Central nervous systemdirected treatment: Central nervous
syndrome, Hurler syndrome, thalassaemia major, sickle cell
system-directed therapy is important in reducing the risk
disease, immunodeficiency/inborn errors of metabolism.
of CNS relapse, although dexamethasone and intensive
chemotherapy contribute. Intrathecal methotrexate, high- Langerhans Cell Histiocytosis
dose systemic methotrexate and cranial radiation have
The term Langerhans cell histiocytosis is used to include
been employed. Cranial radiation is now reserved for
the conditions previously called eosinophilic granuloma
the treatment of CNS leukaemia because of its associated
(single or multiple), Hand-Schueller-Christian triad (diabetes
neuropsychological impairment and learning difficulties. insipidus, exophthalmos and large defects in the membranous
Intrathecal methotrexate is currently used in the UK. bones of the skull) and Letterer-Siwe disease. These are not
Maintenance/Continuing Chemotherapy: This involves malignancies. They present in a wide variety of ways from
daily 6-mercaptopurine, weekly methotrexate and 4 weekly non-specific aches and pains to specific lytic bone lesions, to
vincristine and dexamethasone. Currently in the UK, boys wide spread lymphadenopathy, hepatosplenomegaly and skin
receive treatment for 3 and girls for 2 years. rash. Chronic otitis media, diabetes insipidus and weight loss
Co-trimoxazole (Septrin) is given throughout as pro are common in some types.
phylaxis against Pneumocystis carinii pneumonia (PCP). The old term "histiocytosis x" has been modified into a
form of staging system:
Stage 1: Single lytic bone lesion;
Acute Myeloid Leukaemia
Stage 2: Multiple lytic bone lesions (both previously called
The presenting signs and symptoms in this type of leukaemia eosinophilic granulomata);
are similar to those seen in children with ALL. FAB M4 Stage 3A: Bone plus soft tissue lesions, often associated
M5 subtype manifest with extramedullary disease, including with diabetes insipidus or exophthalmos (previously termed
infiltration of gum and skin, lymphadenitis and CNS Hand-Schuller-Christian triad);
involvement. Sometimes, there are rare features such as Stage 3B: Soft tissue only, disseminated form (previously
chloromas, which are solid masses of myeloblasts which can termed Letterer-Siwe disease).
develop around the orbits, spinal cord or cranium. The groups are not exclusive and overlap may occur.
Investigations are similar to those for ALL. The Stage 3B disease (Letterer-Siwe disease) mostly seen in
myeloblasts usually contain Auer rods and these are seen young infants. They often have wasting, adenopathy,
only in AML. hepatosplenomegaly, anaemia and pancytopaenia with red to
Haematological Disorders 321
A
Fig.15.17: Purpuric rash in Letterer-Siwe disease
Stage III: Involves lymph node regions on both sides of such as ABVDdoxorubicin (previously Adriamycin),
the diaphragm. Also accompanied by involvement of bleomycin, vinblastin and dacarbazine, is a commonly used
spleen or localized contiguous involvement of only one combination for Hodgkins disease. It is given intravenously.
extranodal organ site or both. Procarbazine is most often used in Hodgkins disease. It
Stage IV: The lymphoma has spread beyond the lymph is given orally. It is a weak monoamine-oxidase inhibitor
nodes, e.g. liver, lungs or bone marrow. and dietary restriction is rarely considered necessary.
Blood transfusion may be required for the correction of
Treatment progressive anaemia. The cure rate for children has steadily
The management consists of field radiotherapy and improved with the introduction of combined radiation and
multiagent chemotherapy. Multiple drug combinations multiagent chemotherapy.
Paul Galea, Krishna M Goel
C H A P T E R
Paediatric Rheumatology 16
INTRODUCTION Associated Manifestations
The typical rashes in Henoch-Schnlein purpura (HSP),
As most causes of recent onset arthritis are usually the result
systemic lupus erythematosus (SLE), dermatomyositis are
of trauma or infection, these children fall into the care of the
usually diagnostic. Fever frequently accompanies viral
orthopaedic surgeon. Whilst there is considerable overlap the
infections but the persistent daily spike of fever in systemic-
paediatrician tends to be involved in managing those children onset JIA helps to distinguish this condition from viral
with chronic joint pains and arthritis, many of whom have infections. In nonorganic joint pains there are usually no
a common condition, some being quite rare. The aim of associated findings.
this chapter is to discuss the clinical manifestations and Differential diagnosis of arthralgia and arthritis in
management of the more common conditions dealt with by children is given in Table 16.1.
the paediatrician.
JUVENILE IDIOPATHIC ARTHRITIS
CAUSES OF ARTHRALGIA AND ARTHRITIS
IN CHILDREN Subtypes of Juvenile Idiopathic Arthritis
The causes of arthritis in children are multiple and it is The term JIA was first proposed by the International League
important to remember that many children presenting with Against Rheumatism (ILAR) in 1997 to describe the different
joint pains do not have arthritis. The initial assessment of the subtypes of arthritis and to distinguish chronic inflammatory
child should include the following questions: arthritis in children from adult rheumatoid arthritis (RA).
Although the condition is known to have an autoimmune
Onset Before or After 6 Weeks and autoinflammatory origin its exact aetiology remains
Whist most cases of trauma and reactive arthritis improve unknown. No triggering agent has ever been identified but
within 1 month of onset, most autoinflammatory conditions an autoimmune family background is frequently present, in
such as juvenile idiopathic arthritis (JIA) persist for much particular diabetes, RA and thyroid disease. However, sibling
longer. pairs with JIA are unusual. The autoimmune dysfunctions
result in a markedly increased production of intra-articular
Single or Multiple Joint Involvements inflammatory cytokines leading to inflammation and
hypertrophy of the synovial lining with production of excess
Single joint involvement is much more likely to signify a intra-articular fluid and erosion of the cartilage and ultimately
local condition such as trauma, sepsis or avascular necrosis bone by the hypertrophied synovium. The following JIA
as in Perthes disease and osteochondritis dessicans. subtypes are included in the latest classification:
OligoarthritisInvolvement of up to four joints (usually
Episodic, Continuous, Flitting or Recruiting
large ones)
Trauma and hypermobility are mostly associated with Extended oligoarthritisExtension to five or more joints
episodic pain whilst autoinflammatory conditions such as JIA after 6 months from presentation
cause continuing symptoms and recruit new joints. Flitting Polyarthritis, rheumatoid factor (RF) negative5+
joint pains are characteristic of rheumatic fever. joints (large or small) involved at presentation
324 Hutchison's Paediatrics
Polyarthritis, RF positivePaediatric equivalent of adult systemic JIA and polyarticular JIA predominate in most parts
RA of Asia including Japan, China and India. Oligoarticular
Psoriatic arthritisOther features of psoriasis or first JIA occurs predominantly in young girls less than 4 years
degree relative with psoriasis old. It is defined as persistent oligoarthritis affecting four or
Systemic onset arthritisFever and rash at presentation, fewer joints during and after the first 6 months of disease. It
arthritis starting later carries a 30% risk of uveitis especially in antinuclear factor
Enthesitis related arthritis (ERA)Human leukocyte (ANF) positive children (Fig. 16.1). Extended oligoarticular
antigen (HLA) B27 positive paediatric equivalent of adult JIA is diagnosed when a child presenting with oligoarthritis
ankylosing spondylitis continues to recruit new joints 6 months or more after
Other chronic arthritides including arthritis in Downs disease onset. The arthritis extends to both large and small
syndrome and other chromosomal abnormalities and joints, becoming more aggressive and resistant to therapy. It
inflammatory bowel disease. carries a bigger risk of uveitis (40%) than oligoarthritis. The
knee and then the ankle are the two most commonly involved
Oligoarticular Juvenile Idiopathic Arthritis joints (Figs 16.2A and B). Oligoarthritis carries the best
Oligoarticular JIA is the most frequent type of arthritis in prognosis for remission though its course is often prolonged.
children in North America and Europe. On the contrary, The prognosis is worse for extended oligoarthritis.
Paediatric Rheumatology 325
Fig. 16.3: Rheumatoid rashcharacterised by salmon pink macules, Fig. 16.4: Psoriatic arthritisdactylitis of the second toe
usually coming and going with the fever spikes
Key Learning Points small, but there is considerable variation in individual patient
tolerance and response. A large proportion of children will
Juvenile idiopathic arthritis is different from adult RA.
respond to any NSAID; of the others, those who do not
Children with JIA often have joint stiffness but little pain.
respond to one may well respond to another.
Enthesitis related arthritis is the most painful type of JIA.
In JIA, NSAIDs may take 412 weeks to manifest their
The prognosis for remission in JIA becomes worse with
anti-inflammatory effect. However, pain relief starts soon
increasing joint involvement.
after taking the first dose and a full analgesic effect should
The risk of uveitis diminishes with increasing joint involvement.
normally be obtained within a week. If appropriate responses
All cases of JIA should be screened for uveitis at presentation.
are not obtained within these times another NSAID should
Uveitis screening should continue for at least 7 years after
be tried. In children serious gastrointestinal (GI) side-effects
disease onset.
are rare although gastritis and gastroduodenal ulcer with
Systemic manifestations in systemic-onset JIA frequently
perforation and bleeding have been reported (Figs 16.6A
precede arthritis.
and B). As children appear to tolerate NSAIDs better than
adults the use of gastroprotective drugs such as ranitidine and
TREATMENT OF JUVENILE IDIOPATHIC omeprazole may not be routinely used.
ARTHRITIS Ibuprofen combines anti-inflammatory, analgesic and
antipyretic properties. It has fewer side-effects than other
It is important to suppress the intra-articular inflammation
NSAIDs, but its anti-inflammatory properties are weaker.
before joints are permanently damaged. JIA should be
Piroxicam combines good efficacy with a low incidence of
suspected early in any child presenting with 6-week history
side-effects and a once daily regimen.
or longer of morning stiffness and joint pains particularly if
evidence of joint inflammation is present on examination. Synthetic Disease-Modifying Anti-rheumatic Drugs
There is no laboratory test for JIA. Diagnosis is made on
clinical grounds. Ideally treatment should start within 3 Methotrexate
months from onset aiming at controlling the disease by 6
months from onset. To achieve this it is best to start therapy The use of methotrexate to suppress the underlying immune
with multiple pharmacological agents and taper down abnormality in JIA revolutionised the treatment of this
according to response. condition in the 1990s. Given in a dosage of 0.30.7 mg/
kg per week it is slow acting with the first benefits noticeable
Corticosteroids after 1 month of therapy and maximum efficacy achieved
after 3 months. Common side-effects include nausea and
The fastest way to suppress intra-articular inflammation is
vomiting which may cause difficulty with compliance.
by the injection of a suitable steroid preparation into the
Changing oral administration to the subcutaneous route
joint. Triamcinolone hexacetonide is currently the most
helps reduce this side-effect at the same time increasing the
effective steroid for intra-articular use. Injections may need
bioavailability of the drug. The administration of folic acid
to be repeated according to response and recurrence rate. In
supplements 2448 hours after administering methotrexate
oligoarthritis a steroid injection may be enough to control
may help to reduce GI side-effects. Liver toxicity is the next
arthritis for several weeks and months. In children presenting
most common side-effect and methotrexate therapy needs to
with polyarthritis a rapid improvement can be achieved by
be monitored with regular checking of liver function tests
the administration of intravenous methylprednisolone in
(LFTs), initially monthly for the first 6 months. If it is well
pulses at presentation and over the following few weeks.
tolerated this can be reduced to 3 months subsequently. Less
Any residually inflamed joints are then injected with steroid.
frequently methotrexate may induce neutropenia so that the
Oral steroids like prednisolone have significant side-effect
blood picture and white cell count should be checked at the
when used long-term and are best reserved for short-term
same time as the liver function. The administration of live
use (< 1 month) to control flare-ups until other medications
vaccines is contraindicated during methotrexate therapy. It
take effect.
is useful to establish whether the patient is varicella immune
before the start of therapy as chickenpox infection can be
Nonsteroidal Anti-Inflammatory Drugs
quite severe during methotraxate therapy. If a susceptible
Nonsteroidal anti-inflammatory drugs (NSAIDs) reduce the person is in contact with chickenpox the chances of infection
production of prostaglandins by inhibiting the enzyme cyclo- can be minimised by the administration of zoster immune
oxygenase. Since they are not disease-modifying drugs they globulin (ZIG) within 48 hours of contact. In established
are mainly used to treat pain, stiffness and fever. Differences infection intravenous acyclovir given as soon as the first
in anti-inflammatory activity between different NSAIDs are vesicles appear helps to minimise the severity of infection.
328 Hutchison's Paediatrics
Cyclosporin A
The use of cyclosporin is mainly limited to the treatment of
systemic-onset JIA which responds less well to methotrexate
even after the initial rapid control of the condition with
steroid therapy. Cyclosporin therapy can be associated
with deteriorating renal function and hypertension and
frequent monitoring of renal function and blood pressure
is recommended until the therapeutic dose is established.
Dosage varies between 37 mg/kg per day orally or IV
depending on response.
Juvenile Idiopathic Arthritis Associated Uveitis mechanism is not understood but is thought to be an auto-
immune response, frequently associated with certain viral
Uveitis is the inflammation of the internal lining of the eye.
infections (such as enterovirus, parvovirus B19, EB virus and
It frequently starts at the same time as the onset of arthritis,
rubella) and bacterial infections, typically streptococcal and
but sometimes follows arthritis onset by months and years.
mycoplasma. Several enteropathic infections are frequently
Occasionally it presents before the onset of JIA. It is more
followed by reactive arthritis including Salmonella species,
common in girls especially if they are ANA positive and
Shigella flexneri and Campylobacter. In many cases of
the risk of developing uveitis is inversely proportional to the
reactive arthritis no etiological agent is identified. The child
number of joints involved. Every child presenting with JIA
frequently presents with acute painful swelling of one or both
should have uveitis screening at presentation and this has
knees having been well the previous day. Other joint may be
to be continued subsequently at 36 monthly intervals until
involved. The condition settles within a few weeks and does
the child reaches 12 years of age. Any delay in detection
not usually persist longer than 1 month, hence the importance
of uveitis allows complications such as synechiae, cataract,
of the initial 6-week monitoring period before diagnosing
raised intraocular pressure and band keratopathy to develop.
JIA which persists longer and frequently continues to recruit
Prolonged therapy with ocular steroid drops increases the
new joints.
risk of cataract and glaucoma and should be replaced by
systemic therapy ideally within 3 months. Methotrexate is Post-Streptococcal Reactive Arthritis
very effective in controlling uveitis. In more resistant cases,
the addition of infliximab or adalimumab usually achieves Children with sustained fever, arthritis, raised CRP/ESR
control. Poorly controlled uveitis leads to irreversible and and a preceding group A, C, or G streptococcal infection
permanent blindness. who do not fulfil the 1992 Jones criteria of ARF may be
diagnosed as having post-streptococcal reactive arthritis.
Key Learning Point The arthritis is symmetrical and prolonged in character; knee
Screening for JIA associated uveitis should start at first and ankle joints are regularly involved but small joints and
consultation and continue 46 monthly for up to 8 years or axial involvement also occurs. It has been suggested that
until 12 years of age. ARF and post-streptococcal reactive arthritis are separate
disease entities. Therefore, a routine long-term antibiotic
prophylaxis is not recommended.
PHYSIOTHERAPY AND OCCUPATIONAL THERAPY
Juvenile Reiter Syndrome
Physiotherapy and occupational therapy are important
adjuncts to medication because they help maintain and Reiter syndrome with the typical triad of urethritis, arthritis
improve range of motion of joints, muscle strength and skills and conjunctivitis is rare in children. The most common cause
for daily living activities. Exercises may be performed in the of this syndrome in childhood is infective diarrhoea, due to
warm water of the hydrotherapy pool. Shigella or Salmonella or other enteric pathogens. The knee is
A physiotherapist should plan an exercise programme the most commonly involved joint but ankles and single toes
tailored to the childs needs. The role of an occupational or fingers can be affected (Fig. 16.7). Diagnosis of Reiter
therapist is to keep the child as independent as possible. The syndrome is primarily clinical. The prognosis is usually good
occupational therapist assesses any difficulties caused by the with gradual amelioration of signs and symptoms.
arthritis and advises the child, parents, schoolteachers and
Lyme Disease
other carers on ways of helping with these difficulties, e.g.
using specially adapted cutlery and pencil grips. In 1977 Steer and his colleagues announced the discovery
of a new disease called Lyme disease which they proved
Surgical Treatment transmitted by the deer tick Ixodes dammini. The ticks may
Most cases of JIA do not require surgery. However, some be carried on the bodies of birds, pets, wild animals or
children may need total hip replacement or knee arthroplasty. people. In 1982 it was discovered that infectious agent is
Every attempt should be made to delay surgery until skeletal a spirochaete (Borrelia burgdorferi). The clinical syndrome
maturity if possible. consists of an initial febrile illness associated with a
characteristic rash, erythema chronicum migrans, headache,
JUVENILE REACTIVE ARTHRITIS aseptic meningitis, Bells palsy and vague joint and muscle
pains. Left untreated recurrent episodes of arthritis involving
Reactive arthritis occurs when inflammation of the synovium mainly large joints occur, lasting a few weeks at a time with
is triggered in response to infection outside the joint. The exact symptom free intervals in between. The initial phase of the
330 Hutchison's Paediatrics
JUVENILE DERMATOMYOSITIS
Juvenile dermatomyositis is an autoimmune disorder B
consisting of a vasculopathy affecting primarily skin and Figs 16.8A and B: Two different patients at diagnosis of juvenile
dermatomyositis showing malar and forehead rash and heliotrope
muscle and frequently other systems. It occurs in children discolouration of the upper eyelids
aged 2 years and over, frequently starting insidiously with
increasing proximal muscle weakness and the appearance complaining of feeling tired, unable to run, finding difficulty
of a purple red diffuse rash most prominent on bony with climbing stairs and having to find support to get off
prominences such as knees, elbows, ankles. On the face it the floor (Gowers sign). Occasionally marked oedema of
involves the heliotrope area around the eyes in particular the subcutaneous tissues occurs causing the facial appearance to
upper eyelid (Figs 16.8A and B). On the hands and fingers it resemble nephrotic syndrome. Twenty-five percent of cases
appears over the metacarpophalangeal (MCP), PIP and DIP have associated polyarthritis. The younger the child the more
joints and at the fingertips. This characteristic appearance is acute tends to be the onset with children becoming very tired
described as a Gottrons rash (Fig. 16.9). Close inspection and having widespread rash within a few weeks of onset.
of the nail folds, eyelid edges and gums shows erythema Rapidly deteriorating cases may have dysphonia, dysphagia,
and dilated blood vessels suggestive of vasculitis. The choking due to aspiration and breathing difficulty because of
myopathy manifests itself with increasing weakness, the child respiratory muscle weakness. In older children, onset may be
332 Hutchison's Paediatrics
Fig. 16.9: Juvenile dermatomyositisGottrons papuleserythema- Fig. 16.10: Juvenile dermatomyositislateral view of the knee show-
tous papules over MCP and PIP joints ing subcutaneous and interfascial calcification
Treatment of Juvenile Dermatomyositis of the varied and seemingly infinite manifestations and course
of this complex disorder. Only a few children develop SLE
It is important to check the inflammatory markers and muscle
in the early school years. Most cases occur between 11 and
enzymes before starting therapy but most importantly the
15 years of age and it is more common in girls.
childhood myositis assessment scale (CMAS see Appendex E)
Drug-related lupus is clinically identical with paediatric
should be worked out as this is a useful method of assessing
SLE. In children the most common cause of drug-related
improvement in muscle power during therapy.
lupus is the administration of anticonvulsant drugs.
Initial therapy consists of a rapid control of myositis
with steroids and immunosuppression with methotrexate. Clinical Manifestations
A rapid response to steroids with minimum side-effects
can be obtained by the intravenous administration of In the childhood form of SLE, as in the adult, the clinical
methylprednisolone (IVMP) 30 mg/kg per day 3 daily symptomatology may be variable and unpredictable
doses followed by oral prednisolone 2 mg/kg per day. with any number of organ systems eventually becoming
Single IVMP doses may be repeated at weekly intervals involved. The children frequently present with constitutional
depending on response. Ideally oral prednisolone therapy symptoms and the characteristic erythematous "butterfly"
should be tapered to a small maintenance dose of about rash on cheeks and bridge of nose although frequently the
0.10.2 mg/kg per day within 3 months of starting rash consists of erythema of the cheeks with involvement
therapy. Methotrexate (0.40.7 mg/kg per week, orally or of the lower eyelid (Figs 16.12A and B). In one-third of
subcutaneously) started concurrently should help to control patients, the rash is photosensitive. In addition, various skin
the condition and allow a reduction in steroid dosage. In manifestations may occur such as nonspecific erythemata,
cases that do not respond to these initial measures other purpura, telangiectasia, urticaria, alopecia and abnormal
therapeutic agents are useful in controlling the condition. pigmentation. Recurrent mouth ulceration may occur.
These include monthly infusions of immunoglobulin 2 g/ Raynaud phenomenon is less common in paediatric SLE.
kg per dose, oral cyclosporine and TNF alpha blockers Autoimmune haemolytic anaemia, thrombocytopenia and
in particular infliximab. Hydroxychloroquine is useful in leucopenia may occur.
cases with a florid rash. Patients should be advised to avoid Lupus nephritis is a grave manifestation, being the most
sunlight and to use strong (factor 50) UV blocking agents commonly identifiable cause of death in SLE. It is relatively
when outside as exposure to UV light can cause the rash to
more common and severe in children in China and East
flare up and activating the myositis.
Asian countries. Early detection and treatment is essential
Calcinosis is best treated by prevention with rapid
to prevent progressive and irreversible renal damage and
and adequate control of the disease. Once established it is
deteriorating renal function.
difficult to remove. Surgical excision of calcified lesions,
Joint involvement is common and varies from arthralgia to
especially when ulcerated and infected, may be justified.
Bisphosphonate therapy with pamidronate has been shown to arthritis closely resembling that of JIA. Cardiac involvement
be of benefit in some but not all patients, causing the lesions may occur in the form of myocarditis, endocarditis and
to soften and decrease in size. pericarditis. Manifestations of central nervous system (CNS)
Plasmapheresis may be of benefit in children with severe involvement include convulsions and mental confusion.
life threatening complications that have failed to respond to Chorea may be a presenting manifestation. Enlargement
other measures. of the liver and spleen may be found. Lymphadenopathy
with generalised lymph gland enlargement is yet another
Key Learning Points clinical manifestation. There may be a rapidly progressive
Elevation of plasma AST and ALT may be caused by both liver retinopathy and extensive retinal haemorrhages, exudates and
and muscle disorders papilloedema. Anti-phospholipid syndrome (APS) has been
Some cases of JMD may not be associated with any reported in patients with SLE. The clinical manifestations
biochemical abnormalities depend upon the site of the thrombotic process, which may
involve arterial and venous vessels of any size in any organ.
The diagnosis of APS requires a high degree of clinical
PAEDIATRIC SYSTEMIC LUPUS awareness. APS is a potentially life-threatening condition.
ERYTHEMATOSUS Treatment of APS is the use of antiplatelet agents and
Systemic lupus erythematosus is a multisystem autoimmune anticoagulants in addition to the control of the underlying
disease and the literature continually expands our knowledge SLE.
334 Hutchison's Paediatrics
leucopenia and haemolytic anaemia. Most manifestations of may be slightly pruritic but are not usually painful. They are
neonatal lupus resolve with the clearance of transplacentally cosmetically unacceptable especially on visible parts of the
transferred maternal antibodies and rarely require treatment. body. Without treatment new ones continue to appear for
All signs usually clear by 6 months of age. However, in several years. Once established lesions tend not to regress.
babies of mothers who are anti-SSA/Ro (anti-Ro) positive, They are not usually associated with systemic disease.
there is a risk of complete heart block, which is present form
birth, is permanent and usually needs pacing. Linear Scleroderma
Localised scleroderma is a rare disease. The children present
Case Study
with slowly progressive lesions on their upper and lower
An 8-year-old girl presented with a 3-month history of feeling very limbs, sometimes on the trunk, which consist of localised
tired, unable to walk, ulcers in her mouth, painful knees, wrists, patches of oedematous, thickened, shiny skin, sometimes
elbows and fingers and a facial rash. She had been off school for tethered to underlying bone. In long-standing cases, the
2 months. On examination she had a typical butterfly facial rash affected limb may be shortened or deformed (Fig. 16.13B).
and active synovitis of knees, wrists and elbows. Blood pressure
100/60 mmHg. No other positive finding was detected. The
following investigations were carried out; haemoglobin (Hb) 8.5
g/dl, WBC 3.3 x 109/L, neutrophils 2.4 x 109/L, platelet count 391
x 109/L, ESR 75 mm in first hour, CRP less than 7 clotting profile
normal, aspartate aminotransferase (AST) 40 IU/L, alanine
aminotransferase (ALT) 30 IU/L, albumin 31 g/L, protein 80 g/L.
Creatinine 36 umol/L, urea 5.2 mmol/L, creatine kinase 42 IU/L,
complement C3 0.26 g/L (), complement C4 0.06 g/L () urine
clear (Dipstix) Direct Coombs test positive, ANA titre 1:2,560,
double stranded DNA more than 1,000 IU/ml, Crithidia test
positive, anti-Ro positive, anti-Sm negative, anti-RNP negative,
anti-Scl-70 positive, anti-Jo-1 positive, IgG cardiolipin antibody
less than 10 IU/ml(N) IgM cardiolipin antibody less than 10 IU/
ml(N).
She was initially treated with pulse methylprednisolone and
a course of oral prednisolone. She responded to this treatment
and did not develop lupus nephritis or any other complication. A
Diagnosis: Active paediatric SLE.
JUVENILE SCLERODERMA
Scleroderma is a poorly understood autoimmune connective
tissue disease. It is rare in children, most cases presenting
with localised disease. Systemic disease (systemic sclerosis)
is even rarer in children.
Treatment
There is no specific treatment for HSP, and a large majority of
children will require no treatment. The supporting treatment
A is aimed at symptomatic relief of arthritis and abdominal
pain. NSAIDs seem to be effective in most cases and there
is no evidence that they induce GI haemorrhage in these
children. Prednisolone at a dose of 1 mg/kg per day seems
to reduce the duration of abdominal pain and joint pain. In
addition to corticosteroids, cyclophosphamide, azathioprine,
cyclosporine and MMF have been used in the treatment of
patients with severe nephritis.
Kawasaki Disease
Kawasaki disease is the most common cause of multisystem
vasculitis in childhood. The vessels most commonly
damaged are the coronary arteries, making Kawasaki
B disease the number one cause of acquired heart disease in
Figs 16.14A and B: Henoch-Schnlein purpura: (A) Purpuric rash on children from the developed world. It is characterised by
buttocks; (B) Rash on legs prolonged fever, nonpurulent conjunctivitis, oral mucosal
inflammation, skin changes and cervical lymphadenopathy,
Renal involvement is more common than is usually
recognised and may occur in 20% of children. The clinical induration and erythema of the hands and feet (Figs 16.15A
presentation can vary from microscopic haematuria to typical to C). It was described by Dr Tamasaku Kawasaki in the
acute glomerulonephritis or nephrotic syndrome. While the Japanese literature in 1967 and in the English literature in
majority of children with renal involvement make a complete 1974. Since then it has been recognised in children of every
recovery a few may go on to develop persistent proteinuria, ethnic origin although Asian children are affected 510 times
hypertension and deteriorating renal function. It is suggested more frequently than Caucasian children. It is a disease of
that urinalysis should be carried out for 2 months after young children and 80% of cases are younger than 5 years.
resolution of the rash, to ensure that renal involvement is not The peak age of onset is 1 year and the disorder is more
missed. common in boys.
There are no specific laboratory tests which would help A definite diagnosis of Kawasaki disease can be made
with the diagnosis of HSP. The platelet count is within the when at least five of the following six principal signs are
normal range. Coagulation studies are normal. present:
338 Hutchison's Paediatrics
Treatment
Early initiation of aspirin therapy and a single dose of
intravenous normal immunoglobulin (IVIG) remains the
B mainstay of treatment. This combination has an additive anti-
inflammatory effect resulting in faster resolution of fever
and a decreased incidence of coronary artery complications.
Aspirin is used for its anti-inflammatory and anti-thrombotic
effects. Initially aspirin is given to obtain anti-inflammatory
effect by giving doses of 3080 mg/kg per day in four divided
doses, in the acute phase of illness. Thereafter, it is reduced
to 35 mg/kg per day for its antiplatelet effect. Aspirin
should be continued until ESR and platelet count return to
normal, unless coronary artery abnormalities are detected by
echocardiography. Dipyridamole may be used for treatment
of persistent coronary artery aneurysms in Kawasaki disease.
Treatment with IVIG for all children diagnosed within
the first 10 days of illness reduces the incidence of coronary
artery aneurysms by 70%. The recommended dose of IVIG
is 2 g/kg and it should be administered as a single dose over
C 812 hours. However, children with a delayed diagnosis of
Figs 16.15A to C: Kawasaki disease: (A) Strawberry tongue and Kawasaki disease may also benefit from IVIG.
sloughing of filiform papilla; (B) Non-purulent conjunctivitis; (C) Des-
quamation of thumb Case Study
A 2-year-old boy presented with a 5-day history of fever, cough,
1. Fever persisting for 5 or more days
runny nose and a macular rash on his trunk. On examination
2. Polymorphous rash
he had suffusion of ocular conjunctivae, bilateral cervical
3. Bilateral conjunctival congestion
lymphadenitis, an inflamed throat, strawberry tongue, induration
4. Changes of lips and oral cavity including strawberry
of palms and soles and a temperature of 40C. He had no
tongue, red fissured lips, hyperaemia of oral and
hepatosplenomegaly, arthritis and no peeling of skin and no neck
pharyngeal mucosa
Paediatric Rheumatology 339
stiffness. Hb 10 g/dl, WBC 20 109/L with preponderance of the stenotic areas. Diagnosis is confirmed with angiography.
polymorphs. Platelet count 600 109/L. ESR 80 mm in first hour. High dose steroid therapy and immunosuppression with
CRP 60 mg/L. 2-D echocardiography showed dilatation of right methotrexate and cyclophosphamide are useful in some cases
coronary artery. Urine clear both biochemically, microscopically but the prognosis is always guarded.
and bacteriologically. Viral serology was negative.
The most likely working diagnosis was Kawasaki disease.
Behcets Disease
He was treated with aspirin and IVIG. He recovered unscathed This is a rare disease in the United Kingdom but is much
and did not develop any problems. more common in the Middle East, Japan especially Turkey
presenting in adolescents between 10 and 16 years of age
Juvenile Polyarteritis Nodosa and continuing into adulthood. It is characterised by the
Juvenile polyarterits nodosa (PAN), a rare systemic vasculitis, triad of recurrent aphthous stomatitis, genital ulceration
may present with a wide variety of clinical manifestations. It and severe anterior uveitis. Skin manifestations include
is a necrotising vasculitis of medium sized muscular arteries erythema nodosum and skin ulcers. Venous thrombosis
with associated aneurysmal formation. and aneurysm formation are the result of vasculitis. GI
Clinically the symptoms are due to involvement of the involvement resembles inflammatory bowel disease. Therapy
vessels of the kidney, CNS, muscle and viscera. Coronary with steroids and methotrexate is effective in controlling
artery involvement and myocardial infarction may occur. many cases but some need stronger immunosuppression
No specific serological markers are available for the with cyclophosphamide. Colchicine is useful in managing
diagnosis of PAN although some patients may have circulating recurrent oral ulceration.
anti-neutrophil cytoplasmic antibody (ANCA). Skin or
muscle may be biopsied to detect histological changes of
Wegeners Granulomatosis
fibrinoid necrosis of small and medium sized arterial walls. This granulomatous vasculitis is rare in the paediatric age
Renal biopsy is generally avoided as there is a significant group. The granulomatous vasculitis has a predilection for
risk of bleeding. Corticosteroids can improve the prognosis; the upper and lower respiratory tract, glomerulonephritis and
the effects of the disease process may be suppressed and cutaneous vasculitis. Upper respiratory tract involvement
symptoms relieved, but the underlying condition is not includes sinusitis, epistaxis, nasal mucosal ulceration
cured. It is usual to start corticosteroids at fairly high dose associated with perforation of the nasal septum and hearing
and then reduce it to the lowest level, which would control loss. Lower airways disease causes cough, haemoptysis and
the disease. However, knowledge about the management of pleuritis. Glomerulonephritis is encountered in about half the
refractory juvenile PAN is limited. patients and is rapidly progressive leading to renal failure if
not treated. Cutaneous lesions take the form of deep ulcers on
Juvenile Takayasu Arteritis face and legs although other sites may be also involved. The
Juvenile Takayasu arteritis (TA) is another vasculitic ESR is markedly elevated. RF is positive in some patients.
disorder affecting mainly the aorta and its larger branches Most patients are cANCA positive. Treatment with high
causing both stenosis and aneurysms. It is more common in doses steroid therapy (methylprednisolone pulses plus oral
female adolescents, presenting with systemic manifestations prednisolone) and cyclophosphamide have vastly improved
of lethargy, fever, myalgia, arthralgia and sometimes the prognosis in what is otherwise a fatal condition.
arthritis, followed by breathlessness, dyspnoea headaches
and palpitations, secondary to severe hypertension. This is BIBLIOGRAPHY
a consequence of stenosis of the aorta or its major vessels or 1. Huber AM, Feldman BM, Rennebohn RM, et al. Validation
renal artery stenosis which cause severe systemic hypertension and clinical significance of the childhood myositis assessment
and in some cases pulmonary hypertension. Examination of scale for assessment of muscle function in juvenile idiopathic
the peripheries reveals absent pulses and auscultation over inflammatory myopathies. Arthritis Rheum. 2004;50(5):1595-
the major blood vessels shows the presence of bruits over 603.
Krishna M Goel
C H A P T E R
The Urinary System 17
INTRODUCTION Table 17.1: Classification of glomerulonephritis
Over the past four decades progress has been achieved in the Primary glomerulonephritis
classification of renal disease and this has been particularly Acute post-streptococcal glomerulonephritis
in the realm of glomerular disorders. This has been possible IgA nephropathy
because of electron microscopy and immunofluorescence Anti-glomerular basement membrane antibody disease
in the identification within renal tissue of immunoglobulins Goodpasture syndrome
and complement components. On the basis of experimental
Glomerulonephritis of uncertain aetiology
work it has been shown that there are mainly two types of
immunologically mediated glomerular diseases: Minimal change nephrotic syndrome (MCNS)
1. Due to deposition of antigen-antibody complexes Focal segmental glomerulosclerosis (FSGS)
(immune complex glomerulonephritis); and Membranous nephropathy
2. Due to the action of autoantibodies against constituents of Glomerulonephritis associated with systemic disease and infections
glomerular basement membrane (anti-GBM disease). Henoch-Schnlein purpura, systemic lupus erythematosus,
Classification at present is based on a combination scleroderma, polyarteritis nodosa, Wegener granulomatosis,
of factors, e.g. aetiological agents, association with infective endocarditis, shunt nephritis, hepatitis B and C, malaria,
systemic disease, identification of basic immunopathogenic syphilis, toxoplasmosis, parvovirus B19, cytomegalovirus, filaria,
HIV associated renal disease, Epstein-Barr virus infection.
mechanisms and correlation with clinical findings (Table
17.1). Hereditary disorders
Interestingly the spectrum of paediatric renal diseases Congenital nephrotic syndrome
in Asian countries is similar to that seen in the Western Familial nephritis-Alport syndrome, Sickle-cell disease
countries although certain conditions are more common Other conditions
such as post-dysenteric haemolytic uraemic syndrome, Diabetes mellitus, amyloidosis, heavy metal poisoning -
malarial nephropathy, hepatitis-B nephropathy and mercury
nephropathy associated with leptospirosis, snake-bite
and other envenomations. In this chapter only common
glomerulonephritides in relation to paediatric practice will most cases there is a history of a preceding infection 721
be discussed. days before the onset of renal manifestations. In the majority
this infection is due to one of the group A beta-haemolytic
ACUTE POST-STREPTOCOCCAL streptococci, most often nephritogenic types 4, 12, 25 and
49. It has been presumed that during the latent period of 721
GLOMERULONEPHRITIS
days an antigen-antibody reaction takes place between the
Acute post-streptococcal glomerulonephritis (APSGN) is a streptococcal endotoxin and the cells of the glomerulus. The
syndrome consisting of frank haematuria, proteinuria with underlying renal histology is typically an acute proliferative
accompanying oliguria, volume overload and usually, a mild glomerulonephritis.
increase in plasma creatinine. In the Indian sub-continent, Apart from the cases due to streptococcal pharyngitis,
China, Thailand, Nigeria, South Africa, APSGN is common some cases may occur following skin infection (pyoderma)
as compared to its incidence in the Western countries. In or rarely middle ear infection. In developing countries the
The Urinary System 341
outbreaks of APSGN are often due to pyoderma while in but in the longer-term, proteinuria is usually gone by 36
developed countries they are associated with pharyngeal months and microscopic haematuria by 12 years. Rarely,
infection. The simultaneous occurrence of acute rheumatic the disease shows long-term complications, worsening to
fever and APSGN has been reported but is extremely rare. chronic kidney disease requiring long-term interventional
measures.
Clinical Features
Usually the child is of school age and the onset is abrupt with Box 17.2: Investigations of acute post-streptococcal
glomerulonephritis
fever, malaise, headache, vomiting and the passage of red,
or smoky or brown coloured urine. The preceding tonsillitis Full blood count
U and Es
or other cutaneous infection has usually resolved by this
Liver function tests
time. Examination reveals mild oedema, most obvious in
Immunoglobulins
the face and hypertension of moderate severity. Urinary ASO titre (Anti-DNase B)
output is reduced. There is proteinuria but it is usually in the Complement screen
non-nephrotic range (<2 g/l). Microscopy of urine shows Antinuclear factor (ANF)
red blood cell (RBC) casts and hyaline or granular casts Urine protein creatinine ratio
are less frequent during the acute phase. Causes of dark or Urine culture
discoloured urine are shown in Box 17.1. Renal ultrasound
recommended with a "no added salt" regimen. If the childs The proportion of children with frequent relapses and steroid
appetite remains poor, a complete nutritional and energy dependence in the Indian sub-continent is high but the final
supplement is necessary. Fluid restriction may also be helpful. outcome is satisfactory.
These restrictions are lifted once the child goes into remission.
Steroid-Resistant Idiopathic Nephrotic Syndrome
Treatment of Initial Presentation of Idiopathic The management of children with steroid-resistant nephrotic
Nephrotic Syndrome syndrome is difficult, most children failing to achieve
On the basis of randomised controlled trials involving remission show progressive renal damage.
children with a first episode of steroid-responsive nephrotic A few children around 2025% with idiopathic FSGS
syndrome it is recommended that a 12 weeks initial course respond to an 8 weeks course of high dose corticosteroids.
of prednisolone significantly decreases the risk of relapses. However, immunosuppressive drugs such as cyclo
The dose of prednisolone is based on surface area and the phosphamide, levamisole, chlorambucil and ciclosporin
recommended 12 weeks programme is as follows: have provided an alternative line of treatment for these
Prednisolone 60 mg/m2 daily for 4 weeks followed by children. Also, newer immunosuppressive agents, such as
Prednisolone 40 mg/m2 on alternate days for 4 weeks mycophenolate mofetil and sirolimus, have a place in the
followed by treatment of idiopathic primary FSGS.
Prednisolone 510 mg/m2 each week for another 4 weeks
Key Learning Point
and then stop
Traditionally patients receive divided doses but once Steroid Toxicity
daily treatment also seems to be effective. Cushingoid facies, obesity, hirsutism, striae, hypertension,
If the patient is very oedematous, oliguric, showing impaired glucose tolerance, posterior subcapsular cataracts,
evidence of hypovolaemia, intravenous 20% salt poor albumin, emotional problems and growth retardation.
1 g/kg given over 46 hours is very effective, particularly if
supplemented by intravenous frusemide 2 mg/kg. A low serum Course and Prognosis
albumin alone is not an indication for intravenous albumin.
The main prognostic indicator in nephrotic syndrome is
Key Learning Point responsiveness to steroids. On the whole as many as 60
Steroid Responsive Nephrotic Syndrome 80% of steroid responsive nephrotic children will relapse
Roughly 95% of children with nephrotic syndrome (MCNS) and about 60% of those will have five or more relapses.
will respond to steroid therapy within 24 weeks. A remission If the child is more than 4 years of age at presentation and
is defined when urine is free of protein (or trace only) for 3 or remission occurs within 79 days of the start of treatment
more days. If proteinuria persists beyond the first 4 weeks of without haematuria are predictive of fewer relapses. Finally,
steroid therapy, the child should have a renal biopsy. steroid resistant FSGS children with the current treatment
modalities available a few will achieve a sustained remission.
For children with refractory nephrotic syndrome progress to
Frequently Relapsing and Steroid-Dependent
end-stage renal disease is inevitable.
Idiopathic Nephrotic Syndrome
Up to 60% of steroid responsive patients with nephrotic Congenital Nephrotic Syndrome
syndrome may have one or more relapses. Some of these
Congenital nephrosis is a rare disorder in which inheritance is
children can be managed with low-dose prednisolone given
daily or on alternate days, but many will still relapse, probably autosomal recessive. It appears to have a peculiarly
especially if they have intercurrent infections. Steroid-induced high and familial incidence in Finland (Finnish type). The
side-effects develop in a large number of these children. hallmarks of the disease are an abnormally large placenta
Frequent relapses are diagnosed if there is two or associated with heavy proteinuria, oedema and ascites. It
more relapses within 6 months of initial response, four is unresponsive to steroid therapy and cytotoxic drugs but
or more relapses in any 12 months period and steroid indometacin (indomethacin) and an ACE inhibitor such as
dependent nephrotic syndrome if two consecutive relapses captopril have been used. The affected infants die from
during steroid tapering or within 14 days of cessation of intercurrent infections or progressive renal failure.
steroids. Treatment with cyclophosphamide, chlorambucil, Another condition that causes nephrotic syndrome in
ciclosporin and levamisole to reduce the risk of relapses is the first months of life is diffuse mesangial sclerosis. The
supported. Ciclosporin is an important steroid spairing agent pattern of inheritance is not yet clear although it appears to
in the treatment of steroid-responsive nephrotic syndrome. be genetic.
344 Hutchison's Paediatrics
Urinary tract infection (UTI) is one of the most common The diagnosis must be based upon examination of the urine
diseases of paediatric practice. The most common infecting including microscopy and culture. Collect urine using a clean
organism is E. coli and the highest incidence of disease is catch sample. If there is any delay, storage at 4C will permit
in the first 23 years. Less frequently, the organisms are accurate diagnosis certainly for 24 hours. Urine microscopy
the Streptococcus, Pseudomonas aeruginosa and rarely can make a useful contribution to diagnosis, especially when
the Salmonella group. A child infected with a non-E. coli urgent treatment needs to be initiated without culture results.
organism is defined as having atypical UTI. There has long Significant pyuria is defined as > 10 WBC/cu mm. Pyuria
been controversy as to the route by which the organisms however, is not diagnostic of UTI. Also the absence of
reach the kidney. Haematogenous spread undoubtedly pyuria, particularly in children with recurrent UTI does not
occurs, especially in the newborn, but the present tendency exclude significant bacteriuria.
is to attach more importance to ascending infection via the However, an active infection can be present in the child
urethral lumen or the lymphatics. Urinary stasis due to upon the presence of a clean catch or suprapubic bladder
congenital anomalies of the renal tract or to acquired causes urine (SPA) in an infant or a mid stream specimen urine
of obstruction such as calculi predisposes to infection. (MSSU) in an older child of a growth of more than 100,000
(105) Colony forming units of pathogenic organisms per ml
Clinical Features or any growth on SPA sample is significant.
Urinary tract infections occur four times more frequently in Course and Prognosis
girls than in boys, with the exception of the first 6 months
of life. The higher female incidence after the early months In the majority of cases of acute UTI complete recovery
of life has been attributed to the short female urethra and occurs with adequate treatment. A proven UTI in any child
ascending infections. is an indication for further investigation. They may include
The onset of the acute stage is usually sudden with fever, plain radiograph, ultrasonography, intravenous urography,
pallor, anorexia, vomiting and tachycardia. UTI is one of the micturating cystography and gamma camera renography,
few causes of rigor in young children. However, in children, 99Tc diethylene triamine pentaacetic acid (DTPA) and
symptoms pointing to the renal tract are often absent. In dimercaptosuccinic acid (DMSA) renal scans. Their use
some cases, however, the mother may have observed that should be tailored to the clinical situation in each case. Box
there is frequency of micturition or that the infant screams 17.4 shows basic learning points.
during the act of urination.
Box 17.4: Basic learning points
In older children frequency and dysuria make diagnosis
easier although their absence does not exclude the diagnosis. Ultrasound is the most sensitive method for detection of renal
parenchymal damage and for evaluation of differential renal function.
Some children may present with enuresis. DMSA scan is very sensitive for the detection of renal scarring
damage, the evaluation of divided renal function (normal if it
Key Learning Points lies between 45% and 55%), assessment of ectopic renal tissue,
assessment of suspected horseshoe kidney and investigation of a
Indications for examining urine; suspecting UTI abdominal
child with hypertension.
pain and unexplained vomiting, loin tenderness Micturating cystourethrogram (MCUG) is the definite method for
Frequency of micturition, dysuria or enuresis detecting the bladder and urethral anatomy.
Failure to thrive DTPA is the indirect radionuclide cystography but the child should
be toilet trained (33 years of age).
Prolonged jaundice in the newborn
Uses are assessment of reflux, assessment of obstruction.
Non-specific illness 99mTc-mercapto-acetylglycyl-glycyl-glycine (99-mTc-MAG3) is
Haematuria, offensive urine, cloudy urine non-invasive technique for the follow-up of vesicoureteric reflux
Fever, poor feeding, unexplained fever of 38 or higher (VUR) previously assessed by MCUG.
Lethargy, irritability.
Management
Key Learning Points General nursing measures include a large fluid intake,
antipyretic agents when there is high fever and a laxative if
Urine analysis should be part of routine investigation of every
the patient is constipated. If at all possible antibiotic therapy
ill infant or child.
should not be commenced until the diagnosis has been fully
A pure growth of more than 105 colony forming units or any
established or at least appropriate urine cultures have been
growth on suprapubic tap urine is significant.
obtained so that the organism and its antibiotic sensitivity
The Urinary System 345
With uncomplicated lower UTI, trimethoprim or nitro A significant number of urinary tract anomalies will be
furantoin or oral cephalosporin (e.g. cefalexin) or amoxi detected in children of both sexes who present with UTI.
cillin should be used. Treat for 3 days. Reassess child, if Therefore all children should have some urinary tract
unwell 2448 hours after initial assessment. Use amoxicillin imaging after a first UTI (Box 17.5). Children with UTI
only if organism sensitive. should undergo ultrasound (within 6 weeks) only if they
are younger than 6 months or have had recurrent infection.
Child over Three Months of Age No other investigations are indicated for any child with
UTI unless they have recurrent UTI and/or abnormality on
With acute pyelonephritis, a cephalosporin or co-amoxiclav ultrasound. Recurrent UTI is defined as follows:
should be used. Treat for 710 days (If oral antibiotics cannot Two or more episodes of UTI with acute pyelonephritis/
be used, consider IV antibiotics). upper urinary infection or
To reduce the risk of dental decay, liquid preparations One episode of UTI with acute pyelonephritis/upper
should be sugar free and must not be diluted with sugar urinary infection plus one or more episode of UTI with
containing diluents. cystitis/lower UTI or
The long-term management of infants and children with Three or more episodes of UTI with cystitis/lower UTI.
a history of recurrent UTI, renal scarring (Figs 17.1A and
B) or other imaging abnormalities, e.g. VUR (Fig. 17.2) Box 17.5: Urinary tract imaging
should be tailored to the individual patient. However, it Initial
would seem appropriate to maintain patients with definite 01 years
Urinary tract ultrasound, 99mTc DMSA scan and MCUG; MCUG
risk factors on some form of antibiotic prophylaxis until the scan should be carried out when the urine is sterile and should be
age of 5 years. Otherwise no routine follow-up is required carried out if there is gross dilatation of the collecting system and/or
but awareness of the possibility of recurrence and the obstructive uropathy is suspected.
need to be vigilant and to seek prompt treatment if UTI is 15 years
Urinary tract ultrasound and 99mTc scan; if there is a history of
suspected. recurrent UTI, or a family history of VUR/reflux nephropathy. If an
abnormality on either of these two imaging studies is found, a reflux
study should be done. (A) In a pre-continent childMCUG or a direct
isotope cystography (B) In a continent and cooperative child; 99mTc
DTPA or MAG3 scan.
> 5 years
Urinary tract ultrasound alone unless there is a history of recurrent
UTI or a family history of VUR/reflux nephropathy, a 99mTc DMSA
scan should be done. If an abnormality is detected on either of these
A B two imaging studies then a 99mTc DTPA or MAG3 indirect radionuclide
cystogram should be considered.
Figs 17.1A and B: (A) 99mTc DMSA scan showing an area of reduced
Follow-up
uptake of the scanning agent in the upper part of the left kidney at
Subsequent imaging should be individualised, depending upon the
the time of an acute urinary tract infection. The function in the kidney
age of the child and the presence or absence of abnormalities on
was also reduced. (B) The appearance had returned to normal on a
initial imaging.
follow-up scan
346 Hutchison's Paediatrics
Case Study the new-born haematuria may be the presenting sign of renal
vein thrombosis. Trauma may produce frank blood in the
A six-month-old girl presented with fever (38C), irritability,
urine and minor trauma which causes haematuria suggests an
listlessness, vomiting and not finishing her feeds. On examination
underlying lesion such as hydronephrosis. Also haematuria
she looked ill and pale. Otherwise she had no positive finding. Hb
can occur in general diseases such as thrombocytopenic
8.6 g/dl, WBC 16 x 109/L (neutrophils 12 x 109/L), platelet count
purpura and leukaemia. There are certain substances
normal, CRP 98 mg/L. Urine; blood 2 + and protein 2 +, pus cells
including medications which can alter the colour of urine
200/ mm3. CSF sterile on culture. Blood and urine cultures yielded
and thus simulate gross haematuria (see Box 17.1).
a heavy growth of E.coli. Urinary tract ultrasound normal. She
As regards the diagnosis, microscopic urinalysis is simple
responded to a course of intravenous cefotaxime 100 mg/kg for 7
yet vital in distinguishing glomerular from non-glomerular
days satisfactorily.
sources of bleeding. Macroscopic haematuria is such an
Diagnosis: E. coli septicaemia with UTI alarming occurrence for parents that prompt investigation is
indicated. The urgency is less with microscopic haematuria
Haematuria and it is usual to document its presence over at least one
Unless there is an obvious lesion of the prepuce or meatus, month before embarking on further evaluation. Early and
haematuria is always of serious significance. Table 17.2 shows appropriate diagnosis of haematuria results in improved
the differential diagnosis of haematuria in children. Fear on clinical outcomes. In a few children with haematuria no firm
the part of the parents usually leads to early investigation of diagnosis is made. A scheme for investigation of paediatric
haematuria. Haematuria may also be accompanied by pain haematuria is shown in Figure 17.3.
when there is passage of a blood clot. Painless haematuria Key Learning Point
may be a presenting feature in many children with
Urinary tract infection is the common cause of macroscopic
glomerulonephritis and in rare instances of Wilms tumour. In
(frank) haematuria.
Table 17.2: Differential diagnosis of paediatric haematuria
Fig. 17.3: A plan for the investigation of paediatric haematuria (Redrawn from chapter one, Fig 1:3, Haematuria by SR Meadow, in Clinical
Paediatric Nephrology, second edition, 1994, Butterworth Heineman, Elsevier.
348 Hutchison's Paediatrics
Table 17.3: Causes of hypertension in infants and children commonly found in obese children. Serious hypertension is
rare in neonates but it can present with signs of congestive
1. Renovascular disease
cardiac failure, the cause is often renal and can follow
Renal artery stenosis embolic arterial damage.
Renal artery aneurysm As shown in Figure 17.4, normal blood pressure readings
Renal artery thrombosis vary according to the age of the child. The most reliable
Polyarteritis nodosa definition is a systolic or diastolic blood pressure above the
2. Renal parenchymal disease 95th centile of the expected blood pressure for the childs
Chronic glomerulonephritis
age, which is confirmed on at least two measurements.
Blood pressure levels below the 90th centile are normal. The
Polycystic disease of kidneys
"gold standard" for blood pressure measurement is mercury
Haemolytic uraemic syndrome
sphygmomanometry or Doppler ultrasound method and
Reflux nephropathy these should be used to confirm hypertension found using
Obstructive uropathy automated devices.
Chronic renal failure
3. Renal tumours Clinical Features
Nephroblastoma Children with quite severe hypertension may be asymptomatic
Phaeochromocytoma and hypertension is usually detected on routine physical
Neuroblastoma examination. The most common symptoms are headache,
4. Congenital adrenal hyperplasia nausea, vomiting, polyuria, polydipsia and abdominal pain.
5. Conn and Cushing syndrome Needless to say, blood pressure measurement is essential
in a child with headache, in spite of the fact that there is
6. Essential hypertension
a strong family history of migraine. Some children may
7. Drugs: Corticosteroid therapy (iatrogenic)
present with convulsions, epistaxis, visual disturbances and
8. Coarctation of aorta
facial palsy. Symptoms related to catecholamine excess, such
as palpitations, sweating and weight loss may suggest the therapy should be initiated with a single drug at the lowest
presence of a phaeochromocytoma. recommended dose; the dose can be increased until the
Physical examination should include careful inspection desired blood pressure is achieved. Once the highest
of optic fundi for evidence of hypertensive retinopathy. recommended dose is reached, or sooner if the patient
Other important findings that suggest renovascular begins to experience side-effects, a second drug may be
hypertension are cardiomegaly and the presence of an upper added if blood pressure is not controlled. If more than one
abdominal bruit. Physical examination should also include drug is required, these should be given as separate products
a neurological evaluation, palpation of the abdomen for a to permit dose adjustment of individual drugs.
mass and inspection of skin for caf-au-lait spots, neuromas
Box 17.6: Antihypertensive drugs in children aged 1 month12 years
and neurofibromas. Cushingoid features or evidence of
virilisation suggest disturbances of adrenocortical function. 1. Diuretics
Upper limb hypertension associated with delayed or absent Furosemide: 0.5 mg/kg orally 23 times a day or 0.5 to 1 mg/kg IV
repeated every 8 hours as necessary
femoral pulses suggest the diagnosis of coarctation of Spironolactone: 13 mg/kg/d orally in 12 divided doses
aorta. 2. ACE inhibitors
Captopril: 0.3 mg/kg/d orally in 3 divided doses
Investigation of Hypertension Enalapril: 0.1 mg/kg/d orally in 12 divided doses
3. Calcium channel blockers
It is vital to remember that single high blood pressure values Nifedipine: 0.25 mg/kg/d orally in 12 divided doses
are not reliable. All children with persistent hypertension Amlodipine: 0.05 mg/kg/d once daily
should have some evaluation but the question arises how Nimodipine, Verapamil, Nicardipine and Diltiazem (dosage
intensive it should be; laboratory investigations should include according to national formulary)
FBC, CRP, U and Es, creatinine, LFTs, routine urinalysis, 4. Adrenergic blockers
Labetalol: 13 mg/kg/hour intravenously (infusion only)
urine culture, chest X-ray, ECG, and echocardiography. If
Atenolol: 1 mg/kg/d orally in one dose
renal aetiology is suspected; renal imaging such as renal 5. Vasodilators
ultrasound with Doppler, DMSA and DTPA renal scans, Hydralazine: 0.150.25 mg/kg/dose IV repeated every 46 hours
intravenous urography, renal angiography and renal biopsy. as necessary
If catecholamine excess suspected; CT/MRI imaging of Minoxidil: 0.2 mg/kg/d in 12 divided doses
abdomen, abdominal angiography with selective venous Sodium nitroprusside (in hypertensive emergencies)
sampling. Mild Hypertension (use one of the following)
Nifedipine, Amlodipine and Atenolol
If corticosteroid excess suspected; urinary steroid profile,
Moderate Hypertension (use one of the following)
steroid suppression tests, adrenal CT/MRI and selective Nifedipine, Amlodipine, Atenolol and Enalapril
adrenal venous steroid sampling. Severe Hypertension (use one of the following)
Nifedipine, Amlodipine, Atenolol and Enalapril
Management of Hypertension
Main indications for antihypertensive therapy in children Hypertensive Emergencies
include symptomatic hypertension, secondary hypertension, Hypertensive emergencies in children may be associated with
hypertensive target-organ damage and persistent hypertension signs of hypertensive encephalopathy, including seizures.
despite life style measures. Most children with hypertension Controlled reduction in blood pressure over 7296 hours is
will require general advice regarding diet, exercise and essential. Treatment should be commenced with intravenous
lifestyle i.e. reduction of dietary salt, reduction of total drugs; once blood pressure is under control, oral therapy
and saturated fat, increasing exercise, increasing fruit and can be commenced. Controlled reduction of blood pressure
vegetable intake and not smoking. is obtained by intravenous administration of labetalol or
In children with retinopathy, encephalopathy, seizure or sodium nitroprusside.
pulmonary oedema immediate steps should be taken to lower
the blood pressure. Therefore they may need intravenous Key Learning Points
anti-hypertensive therapy initially. Drugs that can be Blood Pressure Check
used belong to five categories, which are most suitable Blood pressure should be routinely measured in a child at
for the first line treatment of children with hypertension. least on the first paediatric consultation
These are diuretics, adrenoreceptor blockers, angiotensin- Children who are at risk of developing hypertension, e.g. with
converting enzyme (ACE) inhibitors, calcium antagonists known renal disease, must have their blood pressure checked
and vasodilators. Other classes of drugs may be used in routinely.
certain situations (Box 17.6). Ideally, antihypertensive
350 Hutchison's Paediatrics
Treatment
This consists of sterilisation of urine by appropriate antibiotic
therapy and removal of the calculus either by lithotripsy
Fig. 17.5: Staghorn calculus or by an operation. Also percutaneous nephrolithotomy in
The Urinary System 351
correction with bilateral tibial and femoral osteotomies, RENAL FANCONI SYNDROME (CYSTINOSIS)
usually after growth has ceased.
This syndrome embraces a group of biochemical disorders
Case Study resulting from multiple renal tubular defects; glycosuria,
A 5-year-old boy presented to the paediatric clinic with bilateral aminoaciduria, tubular acidosis, phosphaturia, potassium loss
bowing of the legs. The child was of Scottish origin, had a normal and occasionally sodium loss and uricosuria. Cystine crystals
diet and no gastrointestinal symptoms. On examination he had are found throughout the reticuloendothelial system but there
short stature, reduced dental enamel and bilateral varus deformity is no gross excretion of cystine in the urine as in cystinuria
of the knees. He did not have any wrist swelling. which is a quite separate inborn error of metabolism. The
Investigations performed were: disease is inherited as an autosomal recessive trait.
Ca 2.31 mmol/L (reference range 2.22.7 mmol/L)
Po4 0.56 mmol/L (reference range 0.91.8 mmol/L) Clinical Features
PTH 8.5 pmol/L (reference range 0.955 pmol/L)
The physical features usually appear in early infancy and
25HCC 74 nmol/L (reference range 1585 nmol/L)
resemble those of hyperchloraemic acidosis. The features,
Phosphate excretion index high
failure to thrive, anorexia, vomiting and severe constipation
Tubular reabsorption rate of phosphate low: <85%
are constantly present. Thirst and polyuria may also have been
(normal 8595%)
noted by the mother. A feature characteristic of cystinosis is
Diagnosis: Hypophosphataemic rickets
photophobia. This is due to the presence of cystine crystals
The Urinary System 353
A 2-year-old Asian boy presented with a history of not growing Vasopressin Test
and polydipsia. Parents were first cousins. His height was In NDI there is little change in pre- and post-vasopressin urine
between the 0.4th2nd centile and weight between the 2nd9th osmolality
centile. He had widening of both wrists. No other positive finding. In CDI the pre-vasopressin test osmolality is less than
Investigations performed; Hb 10.4 g/dl, WBC 7.2 x 109/L, 300 mOsm/kg, but post-vasopressin urine osmolality is
platelets 315 x 109/L, plasma sodium 130 mmol/L, potassium markedly increased i.e. more than 800 mOsm/kg.
354 Hutchison's Paediatrics
case is seen. Structural anomalies such as reflux into mega- The most effective treatment is the pad and buzzer
ureters are associated with incomplete bladder emptying an enuresis bell, for well-motivated children aged over 7
and a reduction in the amount of urine voided at any time. years. Great care is needed in securing the cooperation of
Although it is easy to test for UTI, most children with the child, the parents and the siblings. The alarm initially
UTI do not bed-wet and most bed-wetters are not infected. acts as a stimulus that awakens the child when micturition
Children with mono-symptomatic nocturnal enuresis are occurs. Ideally the child then awakens, inhibits voiding,
unlikely to have an organic cause. The physical examination gets out of bed and goes to toilet to complete voiding. With
results in almost all children with nocturnal enuresis are time the alarm creates a conditional response in which the
completely normal. However, urine should be tested both physiologic stimuli that cause micturition cause inhibition of
biochemically and bacteriologically. However, children with voiding and awakening. Attention to detail is important so
daytime frequency, urgency, wetting, dysuria and abdominal that false alarms caused by inadequate cleaning of the pad,
straining or poor urinary stream, may indicate the presence excess sweating or the pad folding over on itself should be
of a bladder disorder such as overactive bladder or rarely an avoided. If there is no response after 3 months, it is better
underlying urological disease. to withdraw the enuresis bell. It has been reported that
between 4070% children respond to this device. Also use
Key Learning Point
of an alarm may be combined with drug therapy if either
Children with mono-symptomatic nocturnal enuresis are method alone is unsuccessful. An alternative type of alarm
unlikely to have an organic cause. (e.g. vibrating alarm) should be considered for the treatment
of bed-wetting in children who have a hearing impairment.
Treatment However, an alarm is considered inappropriate, especially if
bed-wetting is very infrequent (i.e. less than 12 wet beds/
Treating enuresis can be frustrating for the parents, the child week) and parents are having emotional difficulty coping
and the paediatrician. Parents should be firmly reassured that with the burden of bed-wetting.
the problem of bed-wetting may resolve with time and that The simple technique of "lifting and waking" a child
these children are not at fault for wet episodes. Children when the parents go to bed sometimes solves the problem at
are generally expected to be dry by a developmental age a practical level. The use of star charts should be reserved
of 5 years and historically it has been common practice to for those children who wish to fill them in. All too often
consider children for treatment only when they reach 7 years. there is an expectation that the star chart will work and if
Therefore treatment is not appropriate in children under 5 it does not there is loss of face for the child, the parent or
years and it is usually not needed in those aged 7 years and the doctor. In fact reward systems with positive rewards for
in cases where the child and parents are not anxious about agreed behaviour rather than dry nights should be used either
the bed-wetting. Drug therapy is not usually appropriate for alone or in conjunction with other treatments for bed-wetting
children under 7 years of age. However, it can be used on a e.g.
short-term basis, for example, to cover periods away from Drinking recommended levels of fluid during the day and
home (for example, for a sleep-over). to avoid caffeine-based drinks
Using the toilet to pass urine before sleep
Tricyclics such as imipramine and rarely amitriptyline
Engaging in management (e.g. taking medication or
and nortriptyline are used but behaviour disturbances may
helping to change sheets).
occur and relapse is common after withdrawal. Tricyclics
Therefore a set treatment package for enuretic children
should not be used as the first-line treatment for bed-wetting
should be avoided. It is essential to check out the feelings,
in children and should be considered only if they have not attitudes and family relationships before deciding whether a
responded to an alarm/or desmopressin. Treatment should not family therapy or psychodynamic approach is needed before
normally exceed 3 months and toxicity following overdosage using the pad and bell technique. Nocturnal enuresis associated
with tricyclics is of particular concern. with daytime symptoms (overactive bladder) can be managed
Antidiuretic hormone, in the form of desmopressin by antimuscarine drugs such as Oxybutynin hydrochloride,
is available. It may be given by mouth or by sublingual with the addition of desmopressin if necessary. However, do
administration. Particular care is needed to avoid fluid not use desmopressin in the treatment of children who only
overload and treatment should not be continued for longer have daytime wetting. There is very little evidence about
than 3 months without stopping it for a week for full the efficacy of many complementary therapies (acupuncture
reassessment. Desmopressin should not be given intranasally and hypnotherapy) and/or alternative medicine (CAM) as
for nocturnal enuresis due to an increased incidence of side- a treatment option when conventional treatment fails or in
effects. order to avoid drug or other treatments.
356 Hutchison's Paediatrics
Box 17.7: Definition of acute renal failure by microscopic urinalysis and extrarenal manifestations
of multisystem disease. Also in intrinsic ARF the urinary
Oliguria-urine output: < 300/m2/day or 0.5 ml/kg/hr
sodium is high (> 40 mEq/L), urinary osmolality is low (<
Anuriaurine output: < 1 ml/kg/day
Hypekalaemiapotassium > 6.0 mmol/L 300 mOsm/kg) and fractional excretion of sodium is more
Clinical fluid overload than 1%. Ultrasonography is the ideal imaging tool in renal
Oedema failure because of its non-dependence on renal function. It
Hypertension allows visualisation of structural anomalies, pelvicalyceal
system, assessment of renal size and calculi, thus help to
Aetiology ascertain as to whether ARF is post-renal.
The causes of ARF may be divided into three sub-groups as Key Learning Point
outlined in Table 17.4.
Acute Renal Failure
The causes of ARF in developing countries differ from
Falciparum malaria, leptospirosis and snake-bite are
those in developed countries and there are also other regional
important causes of ARF in India and in some other Asian
variations. Post-dysenteric HUS used to be the most common
countries.
cause of ARF in the Indian sub-continent during the 1970s to
1980s, but its incidence has now decreased. Also stings by
poisonous scorpions, wasps and bees may occasionally lead Management of Acute Renal Failure
to ARF.
Fluid Therapy
Clinical Evaluation of a Child with As a rule of thumb fluid therapy should equal insensible
acute renal failure fluid losses plus output (urine, vomiting, diarrhoea, etc.).
In evaluating a child with ARF the clinical history, physical Potassium containing fluids should not be given.
examination and laboratory tests should give some clues to
Hyponatraemia
the cause of ARF. It is essential to exclude both pre-renal
and post-renal causes before considering the intrinsic renal Hyponatraemia is the common finding in children with ARF
causes. and is most frequently secondary to water excess rather than
Pre-renal ARF should be suspected when there is a sodium loss. If doubt exists, it is safer to restrict water intake
history of diarrhoea, vomiting, fluid or blood loss. Acute until the cause becomes clear. Profound hyponatraemia
gastroenteritis with dehydration and shock is the most common (plasma sodium < 120 mmol/L) may cause neurological
cause of pre-renal failure. It is typically associated with high problems. Therefore, correction of hyponatraemia to a
plasma urea to creatinine ratio, increased urine osmolality sodium level of around 125 mmol/L should be considered.
(> 500 mOsm/kg), urinary sodium concentration < 20 Also consider dialysis.
mEq/l and fractional excretion of sodium less than 1%. The
intrinsic renal parenchymal disorder can often be diagnosed Hyperkalaemia
Hyperkalaemia is the most serious problem associated with
Table 17.4: Causes of acute renal failure
ARF and causes cardiac dysfunction which may lead to death
1. Pre-renal of the patient. Hyperkalaemia arises from the inability to
Gastroenteritis, blood loss, insensible losses, burns, excrete potassium in the urine and is worse in the presence
sepsis, anaphylaxis, diabetic ketoacidosis of an acidosis. Potassium intake must be minimised and
2. Intrinsic renal failure correction of acidosis undertaken. If ECG changes are
a. Vascular: renal vein thrombosis, HUS, HSP, SLE present, or if serum potassium rises above 7 mmol/L then
b. Glomerular: post-streptococcal glomerulonephritis emergency treatment is indicated, i.e. 10% calcium gluconate
c. Acute tubular necrosis: intravascular haemolysis in G-6- 0.51 ml/kg by slow IV infusion over 510 minutes to reduce
PD deficiency, sepsis, snake-bite, falciparum malaria, the toxic effect of high potassium on the heart.
leptospirosis
The choice of potassium lowering agent remains
3. Post-renal a matter of personal choice. Many favour the use of
a. Renal calculi nebulised salbutamol as it acts by moving potassium from
b. Neurogenic bladder the extracellular into the intracellular space. Also calcium
c. Posterior urethral valves resonium 1 g/kg can be given orally or rectally to expedite
d. Ureterocele the elimination of potassium from the body. However, the
358 Hutchison's Paediatrics
onset of action is relatively slow and has a very limited role Control of dietary phosphate
in the management of hyperkalaemia associated with ARF. To tailor fluid intake to maintain fluid balance
Also consider dialysis. Vitamin and micronutrient supplements.
C H A P T E R
Diseases of Nervous System 18
introduction Neuronal migration disorders include lissencephaly
(smooth brain) where gyral formation does not occur,
Diseases of the nervous system contribute to a significant holoprosencephaly characterised by a single ventricle with
proportion of childhood morbidity and mortality and a defective olfactory and optic systems (see chapter 32:Figs.
consequently considerable parental anxiety. Precise and 32.101A and B) and schizencephaly with unilateral or
prompt diagnosis helps in cure, limiting disability and bilateral clefts within the cerebral hemispheres. Agenesis of
proper counselling. This chapter focuses on the common corpus callosum may be complete or partial with varying
neurological disorders seen in childhood and comprises the expression from asymptomatic to severe intellectual and
following sections. neurologic abnormalities.
Congenital malformations of Central Nervous System (Section on neural tube closure defects and hydrocephalus:
(CNS) See Chapter 10 on Neonatal Surgery).
Infections of the nervous system
Acute flaccid paralysis MICROCEPHALY
Convulsions in infancy and childhood
Childhood stroke Microcephaly is due to failure of normal brain growth and
Movement disorders is defined as a head circumference that is more than three
Neurocutaneous syndrome standard deviations below the mean for age and gender.
Neurodegenerative disorders Microcephaly can be divided into primary and secondary
Neuromuscular disorders types.
Autonomic nervous system
Primary Microcephaly
Brain tumour in children
Cerebral palsy Primary microcephaly is frequently genetically determined
Learning disorders (autosomal recessive) and may be familial. Apart from its
smallness, the head has a characteristic shape with narrow
CONGENITAL MALFORMATIONS OF CNS forehead, slanting frontoparietal area, pointed vertex and flat
occiput. The ears are often large and abnormally formed.
The common congenital anomalies of the central nervous
Generalised muscular hypertonicity is a common feature.
system are neural tube closure defects, hydrocephalus, failure
Convulsions frequently develop. These children have
of development of part of brain (aplasia or hypoplasia) and
neuronal migration defects. profound learning disorder (Fig. 18.1).
Neural tube closure defects include spina bifida occulta, Primary microcephaly is also associated with recognisable
meningocoele, myelomeningocoele, encephalocoele and malformation syndromes in particular chromosomal
diastematomyelia. Myelomeningiocoele is often associated anomalies like trisomy 21, 18 and 13, and non-chromosomal
with congenital deformity of the hind brain known as the syndromes such as Cornelia de Lange syndrome.
Arnold-Chiari malformation, in which the posterior fossa
Secondary Microcephaly
structures are downwardly displaced into the spinal canal
resulting in hydrocephalus (see chapter 32: Fig. 32.104, Fig. Secondary microcephaly results from severe brain damage
32.105) during pregnancy or the first 2 years of postnatal life. The
Diseases of Nervous System 361
there is usually a preceding history of respiratory infection epilepticus can further damage the brain. Permanent brain
in cases due to Haemophilus or Penumococcus. damage with motor and learning deficits is more common
The onset of bacterial meningitis is usually sudden in infants, in part due to the greater difficulty and delay in
with high fever, irritability, refusal of feeds, vomiting, diagnosis. Symptomatic epilepsy is less common. Nerve
headache in older children and general malaise. Convulsions deafness can develop early in the illness and unpredictably.
are common. Young infants show a tense bulging anterior
fontanelle, indicative of increased intracranial pressure, Treatment
and head retraction is common. The older the child the Bacterial meningitis ought rarely to be fatal today.
more likely is there to be nuchal rigidity, but its absence Management of bacterial meningitis encompasses many
in the baby by no means excludes the diagnosis. Kernigs aspects of treatment including antibiotics, correction of fluid
sign is useful in older children and may not be observed and electrolyte imbalances, anticonvulsant medication, anti-
in infants. Blurring of consciousness of varying degree is cerebral oedema measures and dexamethasone therapy.
the rule and increases in severity as the disease progresses. The major factor in selecting antibiotic therapy for
Hypertonia and decerebrate posturing may be seen in late children with bacterial meningitis is the continually changing
cases. Focal neurological abnormalities such as paralytic pattern of antibiotic resistance. Therefore knowledge of local
squints, facial palsy sometimes develop. Deafness due to the susceptibility patterns is essential. Antibiotic therapy should
damage of auditory nerve may be permanent. Papilloedema eventually be aimed against the specific organism causing
is infrequently found. the meningitis but initial therapy is directed against all usual
In infants the disease sometimes has a more insidious onset bacterial pathogens for the age group of the patient. The
with diarrhoea and vomiting, irritability and bogginess of recommended antibiotics schedule for initial treatment of
the anterior fontanelle. The diagnosis is easily missed unless bacterial meningitis in different age groups is as shown in
a high index of suspicion is maintained. Table 18.1.
Currently a minimum of 10 days of antibiotic treatment
Diagnosis or for 5 afebrile days whichever is longer is recommended. It
Lumbar puncture is indicated whenever the possibility of has been demonstrated that intravenous dexamethasone used
meningitis has crossed the physicians mind and normally as an adjunctive therapeutic agent in dosage of 0.6 mg/kg
treatment should not be started before CSF has been per day in 4 doses for 2 days is responsible for a significantly
obtained. However, it is reasonable to give intramuscular lower incidence of neurological sequelae including hearing
benzylpenicillin 2,50,000 units before transfer to hospital or impairment.
lumbar puncture in a child suspected to have meningococcal Anti-cerebral oedema measures include restriction of
meningitis by virtue of the characteristic purpuric or petechial fluid intake to two-thirds of the normal requirement, use
rash seen in meningococcal infection. In pyogenic meningitis of isotonic intravenous solution and at times intravenous
the cerebrospinal fluid will be turbid or frankly purulent. mannitol. Convulsions are best controlled with intravenous
The white cell count may be in thousands/mm3, the majority Table 18.1: Antibiotic therapy in children with bacterial meningitis
being polymorphs. The protein content of the fluid is raised
(above 0.4g/l; 40 mg/100 ml) and the glucose is greatly Age Group Drug (IV) Dose Per Day
reduced (below 2.5 mmol/L; 45 mg/100 ml). Gram stain Infants Ampicillin and 200 mg/kg/day in 4
13 months doses
films of the centrifuged deposit may reveal gram-positive
diplococci, often very numerous, in pneumococcal infection, Cefotaxime 200 mg/kg/day in 4
doses
gram-negative pleomorphic coccobacilli in haemophilus
infection and gram-negative intra and extracellular diplococci Older infants and 1 Cefotaxime or 200 mg/kg/day in 4
children doses
in meningococcal infection. Rapid identification of bacterial
antigen in CSF can be obtained by use of latex agglutination 2. Ceftriaxone 100 mg/kg/day in single
dose
test. The final cause is determined by CSF culture but this
3. Ampicillin and 200 mg/kg/day in 4
may be sterile if prior antibiotic had been administered.
doses
midazolam, lorazepam or diazepam. Recurrence of seizures haemorrhage. It is in these cases, which are clinically
is prevented by IV phenytoin. indistinguishable from the fully developed Waterhouse-
When treatment is adequate a prompt improvement can Friderichsen syndrome, that energetic treatment can save
usually be expected with a subsidence of fever within 4896 life and lead to complete recovery. A continuous intravenous
hours. If fever persists with continuing irritability, bulging infusion of 5% dextrose with normal saline should be
of the fontanelle, focal seizures and at times focal deficits, commenced. Penicillin should be given by direct injection in
the presence of a subdural effusion should be suspected. This the dosage mentioned above. Hydrocortisone hemisuccinate
is most commonly encountered in infants with meningitis 100 mg should be injected intravenously via the infusion at
due to Haemophilus. Cranial ultrasound examination will be the start of treatment, to be followed by 50 mg 6-hourly for
helpful to confirm the diagnosis. Subdural taps should be 2448 hours; thereafter-decreasing doses of prednisolone are
done through the coronal sutures on both sides. The subdural given orally for another few days.
fluid is xanthochromic and protein rich. Repeated subdural
taps may be required before the accumulation stops. Routine Prevention of Bacterial Meningitis
lumbar puncture at the completion of antibiotic therapy is Routine immunisation of infants with conjugated Haemophilus
not advised. Anaemia may have to be corrected by blood influenzae type B vaccine is recommended. For close contacts
transfusion. The child with meningitis requires a high of children with Haemophilus influenzae and meningococcal
standard of professional nursing. meningitis, chemoprophylaxis with rifampicin at a dosage of
20 mg/kg per day for 24 days is advised.
THE WATER HOUSE-FRIDERICHSEN SYNDROME
This is due to acute bilateral adrenal haemorrhage seen ASEPTIC MENINGITIS
most commonly in fulminating cases of meningococcal
septicaemia. Death occurs usually before the meningitis Definition
has had time to develop, and may, in fact, take place after Aseptic meningitis refers to mostly viral meningitis as well
an illness of only a few hours duration. The characteristic as other forms of meningitis where gram stain and routine
clinical picture is seen in an infant who suddenly becomes bacterial culture reveal no organisms.
ill with irritability, vomiting and diarrhoea and tachypnoea Sporadic cases occur throughout the year, and from time
or Cheyne-Stokes breathing. The heart rate is very to time sizeable epidemics occur. Hospital based studies
rapid. The infant becomes rapidly drowsy/unconscious. looking at the different aetiologies of childhood meningitis
Peripheral cyanosis is associated frequently with a patchy have found that aseptic meningitis is 23 times more common
purple mottling of the skin, which resembles post-mortem than bacterial meningitis; also pyogenic meningitis is more
lividity. The child may die at this stage, about 68 hours
common in younger children whereas aseptic meningitis is
from the onset of the illness. In less fulminating cases a
seen across all age groups.
diffuse purpuric and ecchymotic eruption appears which is
the very characteristic of meningococcal septicaemia. The Aetiology
blood pressure may be so low as to be unrecordable. In the
toddler the course of the illness tends on the whole to be less Many viruses can cause aseptic meningitis. These include
rapid than in the infant. The meningococcus is not always enteroviruses (particularly Coxsackie and ECHO viruses),
successfully isolated in blood cultures but can sometimes be viruses of mumps, measles, Herpes simplex and Herpes
cultured from the fluid contents of purpuric blebs on the skin. zoster, the mouse virus of lymphocytic choriomeningitis and
Disseminated intravascular coagulation may also develop in Epstein-Barr virus. Mumps virus can cause aseptic meningitis
fulminating cases of meningococcal septicaemia and should without any of the other manifestations of this disease.
always be sought by appropriate laboratory tests; blood Coxsackie virus can cause meningitis and paralysis, which
count with platelet count, blood film for fragmentation of is indistinguishable clinically from classical poliomyelitis.
red cells, clotting screen including fibrinogen levels, FDPs Non-viral agents, which can cause aseptic meningitis, include
or D dimers. Leptospira (icterohaemorrhagiae and canicola), Treponema
pallidum, Toxoplasma gondii and Trichinella spiralis.
Treatment
In cases where the adrenal cortex has been destroyed by Clinical Features
haemorrhage, recovery is impossible. In some cases of The onset is usually sudden with fever, headache, neck pain,
fulminating meningococcal septicaemia, however, there is vomiting, malaise, diarrhoea or constipation. In some cases,
an intense congestion of the adrenal glands without much especially of poliomyelitis there is a preceding illness about
364 Hutchison's Paediatrics
1 week earlier with fever, headache, malaise, sore throat and In the Indian subcontinent, Japanese encephalitis
abdominal pain. The temperature chart in such cases shows transmitted by Culex mosquito is common, often in epidemic
two humps, sometimes called the dromedary chart. The form, during the monsoon season.
child may be drowsy, apathetic and irritable when disturbed,
but marked blurring of consciousness is uncommon. Slight Clinical Features
nuchal rigidity is usually found. In the infant the anterior These are extremely protean. The onset of the illness is
fontanelle may be tense and full. Compared to bacterial usually acute and a prodromal stage with general malaise,
meningitis, meningeal signs and focal seizures are less fever, headache and vomiting often precedes signs of CNS
common in aseptic meningitis. Exanthema may precede or involvement. The acute encephalitic stage may show varying
accompany the CNS signs. disturbances of cerebration from the gradual onset of stupor
or coma to the sudden onset of violent convulsions. Headache,
Diagnosis
fever, irritability, mental confusion, abnormal behaviour,
The cerebrospinal fluid is clear or only slightly hazy. and seizures may be marked. Focal neurological signs of
The cell count varies from 501000/mm3 (may be higher many kinds are encountered such as cranial nerve palsies,
in lymphocytic choriomeningitis) with lymphocytic speech disturbances, spastic palsies, cerebellar disturbances
predominance. The glucose content is normal but the protein and abnormalities in the various reflexes. In cases of acute
content is moderately elevated (50200 mg/100 ml). The necrotising encephalitis caused by herpes virus type 1, in
culture remains sterile. The main differential diagnosis is addition to the clinical manifestation described above, some
partially treated pyogenic meningitis. CSF bacterial antigen cases have had neurological signs suggestive of an expanding
detection test can be helpful. The causative virus can be lesion in the brain, particularly in the temporal lobe.
identified in the stools. The serum (at least two specimens The outcome is always doubtful in every case of
taken within a 10-day interval) may be tested for neutralising encephalitis and especially grave in acute necrotising
antibody or complement fixation in rising titre. Identification encephalitis. Death is not uncommon. The case fatality
of the viral DNA after PCR amplification in CSF is now rate in Japanese encephalitis has varied between 25% and
possible but may give false positive result. 45%. Although complete recovery is possible, many are
left with permanent disability such as mental deterioration,
Treatment hemiplaegia or paraplaegia, and epilepsy. In some children
In the great majority spontaneous recovery occurs. an apparently good recovery is followed later by learning
Symptomatic measures to relieve fever, headache or muscle difficulties or behaviour problems.
pain are required. Specific treatment is available only for
Herpes simplex infection (Acyclovir). Diagnosis
The diagnosis is usually made on clinical grounds supported
ACUTE ENCEPHALITIS AND ENCEPHALOPATHY by CSF analysis, which shows a mild pleocytosis and
The term encephalitis denotes infection affecting the brain increase in protein. EEG typically shows diffuse slow-
substance. The term encephalopathy is used to describe wave abnormalities. Focal findings and Periodic lateralised
functional disturbances of the brain without actual infection epileptiform discharges (PLEDS) on EEG or CT or MRI,
of the brain. especially involving the temporal lobes, suggest HSV
encephalitis. Virological studies are often successful in
Aetiology determining the causal agent.
All of the viruses mentioned in connection with the aseptic
Treatment
meningitis can cause acute encephalitis. Others include
arboviruses like Japanese encephalitis virus, influenza virus, With the exception of herpes encephalitis, treatment of other
cytomegalic inclusion disease in infancy, and the viruses of viral encephalitis is essentially supportive and consists of
rabies, HIV, encephalitis lethargica and the zymotic diseases control of hyperpyrexia and convulsion, reduction of raised
such as measles and varicella. Special mention must be made intracranial pressure, and expert nursing, the latter being
of Herpes simplex virus (HSV). In the new born infant HSV of utmost importance. Convulsions must be controlled with
type 2 can cause a disseminated infection involving many intravenous midazolam or diazepam or phenytoin. A clear
tissues with a grave prognosis. In the older children Herpes airway must be ensured by proper positioning and frequent
simplex virus type 1 infection of the brain causes acute pharyngeal suction. Management of status epilepticus may
necrotising encephalitis affecting particularly the temporal need intravenous midazolam infusion along with tracheal
lobe. intubation and mechanical ventilation. Frequently, tube
Diseases of Nervous System 365
feeding or intravenous fluids are indicated. Patients should usual myoclonic jerk, it gradually melts away. Pyramidal
be monitored for signs of raised intracranial pressure and and extra-pyramidal signs are common. The final stage of
managed appropriately. Fluid and electrolyte balance must decerebrate rigidity, severe dementia and coma is reached
be maintained. Distension of the bladder must be anticipated about 1 year or more from onset and death occurs usually
and controlled by an in-dwelling catheter. 13 years after diagnosis. Rarely, clinical arrest has been
For HSV encephalitis, intravenous acyclovir is given in reported.
a dose of 10 mg/kg every 8 hours for 10 days. During the The CSF cell count is usually normal. Although the total
convalescent stage physiotherapy, occupational therapy and protein content of the CSF may be normal or only slightly
rehabilitation treatment are important. elevated, the gamma globulin fraction is greatly elevated
In addition to the viral encephalitis, which may occur, resulting in a paretic type of colloidal gold curve. On CSF
early in the infectious fever such as measles, rubella and electrophoresis, oligoclonal bands of Ig are often observed.
chickenpox, an encephalitic illness of later onset may High levels of antibody in CSF in dilutions of 1 equal 8 or
occur during the period of recovery. This is characterised more to measles are found. The EEG at the start of the illness
histologically by extensive demyelination in the brain may show only some excess slow-wave activity. Later in
substance and the pathogenesis is probably a vasculopathy the illness bilateral periodic complexes typical of the disease
mediated by immune complexes with lesions occurring appear. The EEG then shows high-amplitude slow-wave
in central nervous tissue myelin. This is known as post- complexes, frequently having the same rhythmicality as the
infectious or acute disseminated encephalomyelitis (ADEM). myoclonic jerk, sometimes with a frequency of 610 seconds
(burstsuppression episodes). Finally the EEG becomes
SCLEROSING PANENCEPHALITIS increasingly disorganised with random dysrhythmic slowing
and lower amplitudes.
There is yet another type of encephalitis produced by measles
Treatment is mainly supportive. Administration of
virus which develops some years after apparent recovery
inosiplex (100 mg/kg per 24 hr) may prolong survival and
from the measles illness itself. The disease is called subacute
produce some clinical improvement. Measles vaccination is
sclerosing panencephalitis (SSPE). Histologically the disease
the most effective measure to prevent SSPE.
is characterised by intranuclear inclusions, and under
the electron microscopy these are seen to contain tubular
ACUTE ENCEPHALOPATHY
structures typical of the nucleocapsids of paramyxoviruses.
Measles antigen has also been demonstrated in the brain The term acute encephalopathy refers to acute cerebral
by fluorescent antibody techniques and measles virus itself disorder associated with convulsions, stupor, coma and
has been isolated from brain tissue of patients with SSPE. abnormalities of muscle tone. There is no actual infection
The initial attack of measles usually antedates the onset of of the brain substance. In some cases there has been a
encephalitic manifestation by several years. Infection with recent preceding virus infection. Rarely, it may be related
measles during infancy seems to increase the risk of SSPE. to the administration of a vaccine. Occasionally, the child
The disease has also been reported to follow immunisation may have an underlying inherited metabolic defect such
with live measles virus vaccine but the risk is very much as maple syrup urine disease, organic aciduria or fatty
less than with wild measles virus infection. Viral mutation, acid, peroxisomal or mitochondrial metabolic defect. The
abnormal immune response to measles virus or subtle cerebrospinal fluid is usually normal and apart from oedema
predisposing immune deficiency has been proposed to explain the findings in the brain are remarkably inconspicuous. One
the persistent measles virus infection of the CNS. distinct clinicopathological entity is Reye syndrome. Here
an acute encephalopathy with fatty degeneration of the
Clinical Features viscera in a young child is associated with hypoglycaemia,
The onset is insidious over a period of months and occurs hyperammonaemia, greatly elevated aminotransferases,
mostly from 515 years of age with preponderance among metabolic acidosis and respiratory alkalosis with
boys. There is insidious deterioration of behaviour and prolongation of the prothrombin time. The CSF generally is
school performance progressing to a state of dementia. Major clear and acellular with a normal protein concentration and
epileptic seizures may occur. A somewhat characteristic form reduced glucose level. At autopsy the liver is enlarged and
of myoclonic jerk is commonly seen in which the child makes shows gross fatty change, being greasy and pale yellow in
repetitive stereotyped movements with rhythmic regularity colour. The brain shows only oedema. However, electron
(26 per minute); each begins with shock-like abruptness microscopy reveals distinctive mitochondrial changes in
typical of the myoclonic jerk, but then the elevated limb both hepatocytes and neurons. The syndrome follows viral
remains frozen for a second or two before, and unlike the infection with influenza B and varicella. The evidence to
366 Hutchison's Paediatrics
support a possible association between Reye syndrome and vasculitis, infarction, cerebral oedema and communicating
aspirin ingestion is not absolute but sufficient to discourage hydrocephalus due to obstruction to CSF flow at the level
the use of aspirin for children. Treatment remains non- of basal cisterns, leads to severe brain damage with little
specific in this syndrome because the precise aetiology and hope of recovery and the incidence of permanent brain
pathogenesis remain obscure. None the less the correction damage such as hydrocephalus, blindness, deafness, mental
of hypoglycaemia, electrolyte imbalance, bleeding diathesis, retardation and learning impairment are high.
metabolic disturbances and control of intracranial pressure
may suffice in the early cases. The mortality and morbidity Diagnosis
are high in late cases. The diagnosis is based on a positive contact history, clinical
examination, positive Mantoux test, chest radiograph and
TUBERCULOSIS OF THE CENTRAL NERVOUS CSF analysis. Mantoux test may be negative in advanced
SYSTEM stages and in severe malnutrition. The CSF is often under
Tuberculosis of the central nervous system is the most pressure and may be clear or opalescent depending on the
serious complication of primary tuberculosis in children. The cell count. The CSF cell count varies between 50/mm3
clinical presentation commonly takes the form of meningitis. and 500/mm3 with lymphocyte predominance. The protein
Less commonly, single or multiple tuberculomata enlarge content is raised above 40 mg/100 ml and may be even in
and present as intracranial tumours. Tuberculous disease gms/100 ml. The glucose content is low between 20 mg/dl
may also be confined to the spinal cord. and 40 mg/dl. The final proof is the detection of tubercle
bacilli by acid-fast stain of the CSF sediment or cobweb clot
Tuberculous Meningitis and mycobacterial culture. Identification of specific DNA
sequences of Mycobacterium tuberculosis after polymerase
This develops following the rupture of a caseous subcortical chain reaction (PCR) amplification in the CSF is possible but
focus (Rich focus) into the subarachnoid space and is there are risks of contamination and false positive results.
commonest in children between 6 months to 5 years of age. Cultures of other fluids, such as gastric aspirate or urine may
Sometimes it is preceded by a head injury or an intercurrent help confirm the diagnosis. CT or MRI scan of the brain will
infection such as measles, mumps or pertussis. Human show basal exudate, communicating hydrocephalus, cerebral
immunodeficiency viral (HIV) infection predisposes children oedema and focal ischaemia (Fig. 18.2).
to tuberculous infection including TB meningitis. The onset
Tuberculous meningitis is most likely to be mistaken for
of symptoms is insidious and progresses gradually over
partially treated pyogenic meningitis or aseptic meningitis
some weeks and may be grouped into stages, which give a
due to viruses. In these cases the onset is usually much more
guide to prognosis. In infants the disease may run a more
acute than in tuberculosis cases, with brisk fever and obvious
rapid course. Initially, the symptoms are non-specific and
early rigidity of the neck and spine. The cerebrospinal fluid
include lethargy, irritability, anorexia, headache, vomiting,
may show a lymphocytic pleocytosis but in viral aseptic
abdominal pain, constipation and low-grade fever. The
meningitis there is no fall in sugar content, the protein content
childs consciousness is unimpaired and neurological signs
is less markedly raised and a spider-web clot rarely, if ever,
are absent. Unless there is a high index of suspicion and a
forms. There will be no other indications of tuberculosis in
positive contact history, the diagnosis is easily missed at this
these cases. Detection of bacterial antigen in CSF by latex
stage. About 2 weeks later the intermediate stage develops
with obvious blurring of consciousness, nuchal rigidity, agglutination test and a positive bacterial CSF and blood
positive Kernigs sign and focal neurological signs such as culture will help to differentiate pyogenic meningitis. In
cranial nerve paralysis (ophthalmoplegia and facial paralysis) older children tuberculous meningitis can simulate brain
and hemiplaegia. Seizures may develop. Raised intracranial tumour, but the cerebrospinal fluid and CT or MRI scan of
pressure may manifest as full boggy fontanelle in an infant the brain will reveal the true state of affairs. Tuberculomas
and cracked pot resonance in the older child. Fundoscopy in children are often infratentorial in location, and may be
may reveal choroidal tubercles indicating an associated single or multiple.
miliary tuberculosis, papilloedema or the development of
optic atrophy.
Treatment
The third and final stage is characterised by coma, In tuberculous meningitis the results depend upon the stage at
decerebrate rigidity, paralytic squints, unequal or dilated which treatment is started. The prognosis for young infants
pupils, other neurological signs, and marked wasting. is generally worse than for older children. The optimal
Convulsions are common. Vasomotor instability and terminal chemotherapy is the use of a combination of antituberculous
hyperpyrexia may occur. The combination of cerebral drugs with good penetration into the CSF and low toxicity,
Diseases of Nervous System 367
BRAIN ABSCESS
Pus accumulation in brain parenchyma may occur as a
complication of meningitis, due to haematogenous spread
of septic emboli from infective endocarditis and congenital
cyanotic heart disease (especially tetralogy of Fallot), extension
of infection from chronic otitis media and mastoiditis, and
penetrating head injuries. The site of abscess depends on
the source, e.g. chronic otitis media and mastoiditis leading
to abscess formation in temporal lobe and cerebellum. The
usual organisms are streptococcus (especially Streptococcus
viridans), anaerobic organisms, Staphylococcus aureus and
gram-negative organisms particularly citrobacter. In immune
compromised children fungal organisms may be responsible.
The symptoms and signs usually develop over 23 weeks
and initially are non-specific with low-grade fever and
headache. Later signs of raised intracranial pressure, seizures
and focal neurological signs develop. Cerebellar signs may
be obvious. The diagnosis is confirmed by contrast CT scan
Fig. 18.2: Tuberculous meningitis. CT brain showing moderate
which shows a central area of low density with marked ring
communicating hydrocephalus with periventricular hypodensities enhancement and surrounding area of low density due to
suggestive of CSF seepage. Enhancing basal exudates noted oedema. There may be shift of the midline. Lumbar puncture
should not be performed in a child suspected to have brain
for sufficient duration. A suggested regimen is isoniazid abscess (See chapter 32: Fig. 32.126). The treatment consists
(510 mg/kg), rifampicin (10 mg/kg), pyrazinamide (2530 of appropriate antibiotics and aspiration of the pus. The usual
mg/kg) and ethambutol (20 mg/kg) given in single daily antibiotic combination is a third-generation cephalosporin,
dose on an empty stomach for the first 2 months followed metronidazole and benzyl penicillin. Associated infection
by isoniazid, rifampicin and ethambutol for another 10 such as mastoiditis should be treated.
months. Rifampicin may cause gastric upset, red coloured
urine and a rise in liver transaminases but these side effects NEUROCYSTICERCOSIS
are rarely severe. Isoniazid may cause convulsions in young Neurocysticercosis is the most common parasitic infestation
infants and peripheral neuropathy in older patients. Although of the central nervous system, and is caused by pork tapeworm
children taking isoniazid may have transient elevation of Taenia solium in its larval stage. Human cysticercosis usually
serum transaminase, clinically significant hepatotoxicity is results when humans ingest vegetables contaminated with
rare. Corticosteroids are normally administered during the the eggs of Taenia solium. The cysticerci develop almost
first few weeks of treatment to reduce cerebral oedema and anywhere but particularly in the skin, muscle, brain and eye.
prevent formation of adhesions and hydrocephalus. Initially Neurocysticercosis has been reported even in young children.
dexamethasone 0.6 mg/kg per day in 34 divided doses is It manifests commonly with seizures, but can also cause signs
given, followed by prednisolone (12 mg/kg per day) for 24 of increased intracranial pressure, meningitis, behavioural
weeks and gradually tapered off. disorders, paresis and hydrocephalus. The seizures are
Good nursing care and adequate nutrition are important. mostly focal in nature. A phenomenon peculiar to patients in
Anti-convulsant therapy may be required to control seizures. the Indian subcontinent is the solitary cysticercus granuloma
Close family contacts should be screened for tuberculosis. which shows up as a single, small, enhancing lesion on the
contrast enhanced computerised tomography (CT) scan, with
Complication
significant surrounding oedema located superficially near
During treatment neurological complications may arise due the cortex (Fig. 18.3). The usual presentation is a simple
to obstructive hydrocephalus, thrombosis of cerebral vessels partial seizure often with post-ictal deficit in the form of
and the involvement of cranial nerves in basal exudate. monoparesis or hemiparesis. The deficit is usually temporary
368 Hutchison's Paediatrics
Fig. 18.3: Neurocysticercosis. CT scans showing four ring enhancing Fig. 18.4: Acute flaccid paralysis due to poliomyelitis
lesions close to the midline in the left fronto-parietal region with sur-
rounding oedema
and the CT lesion resolves spontaneously over a period of person via the faecal-oral route. Unimmunised children, 6
time. Serologic tests like enzyme-linked immunosorbent months to 3 years of age, are most susceptible. In 9095% of
assay (ELISA) and enzyme-linked immuno electrotransfer infected individuals, poliovirus infection is inapparent. In the
blots (EITB) can be useful to confirm the diagnosis. Since remaining infected individuals, one of the three syndromes
active solitary parenchymal lesions resolve spontaneously, may occur.
only anti-epileptic drug is advised usually for a 6-month 1. Abortive polio is characterised by a minor illness with
period. However persistent, enlarging or multiple lesions low-grade fever, sore throat, vomiting, abdominal pain
need anticysticercal drugs. Albendazole is preferred at a and malaise. Recovery is rapid and there is no paralysis.
dosage of 15 mg/kg per day in 2 divided doses for 28 days. A 2. Non-paralytic aseptic meningitis is characterised by
worsening of symptoms may follow the use of Albendazole headache, neck, back and leg stiffness preceded about
due to host inflammatory response to dying parasite. A short a week earlier by a prodrome similar to abortive polio.
course of steroids for about 5 days can ameliorate these The child may be drowsy and irritable; spinal stiffness
effects. is manifested by the tripod sign. There is no paralysis.
3. Paralytic poliomyelitis occurs in about 1% of infected
Acute flaccid paralysis individuals. Symptoms often occur in two phases with
a symptom-free interval. The minor consisting of the
Acute flaccid paralysis is defined as onset of weakness and symptoms of abortive poliomyelitis and the major illness
floppiness within 2 weeks in any part of the body in a child characterised by high grade fever, muscle pain and
less than 15 years of age. The common causes of acute flaccid stiffness followed by rapid onset of flaccid paralyses that
paralysis are acute paralytic poliomyelitis, Guillian-Barre is usually complete within 72 hours (Fig. 18.4).
syndrome, traumatic neuritis and transverse myelitis. Other There are three types of paralytic poliomyelitis:
causes include non-polio enterovirus infections, encephalitis, 1. Spinal poliomyelitis: This accounts for newly 80% of
meningitis, toxins, etc. the paralytic poliomyelitis. It results from a lower motor
neuron lesion of the anterior horn cells of the spinal
Acute Poliomyelitis cord and affects the muscles of the legs, arms and/or
This is caused by poliovirus, which comprises three trunk. Paralysis is asymmetrical and the sensory system
serotypes: Types 1, 2 and 3 of which type 1 is the commonest is intact. The affected muscles are tender; floppy and
cause for poliomyelitis. Transmission is primarily person-to- tendon reflexes are lost or diminished.
Diseases of Nervous System 369
paralysis is treated with intravenous immunoglobulin therapy Table 18.2: Classification of seizures (ILAE 2010)
(0.4 gm/kg per day) administered for 5 days. Plasmapheresis
Generalised seizures
is the other alternative.
Tonic-clonic
Absence
CONVULSIONS IN INFANCY AND Myoclonic
CHILDHOOD Clonic
Convulsion is a common acute and potentially life-threatening Tonic
event encountered in infants and children. About 5% of the Atonic
children would have had one or more convulsion by the Focal seizures
time they reach maturity. A convulsion (epileptic seizure) is Unknown
defined as a transient occurrence of signs and/or symptoms Epileptic spasms
due to abnormal excessive or synchronous neuronal activity
cerebral palsy and autistic disorders will develop epileptic
in the brain. The clinical manifestation consists of sudden
seizures.
and transitory abnormal phenomena which may include
alterations of consciousness, motor, sensory, autonomic, or Classification
psychic events perceived by the patient or an observer.
Epileptic seizures are generally classified based on the
Aetiology clinical features of the attack and the accompanying
Electroencephalograph (EEG). The recent classification
Seizures may be either provoked or unprovoked. The
of seizures proposed by the International League Against
common provoking factors include high fever, perinatal
Epilepsy (ILAE) 2010 is shown in Table 18.2. The EEG
damage, hypoglycaemia, hypocalcaemia, hyponatraemia,
hypernatraemia, intracranial infections, head injury, changes are frequently characteristic in the different clinical
tumours, inherited metabolic disorders and developmental types but this correlation is by no means firm and a good deal
anomalies of the brain. Inborn errors of metabolism causing of overlap and mixing of types occur. A normal EEG does
seizures include non ketotic hyperglycinaemia, mitochondrial not preclude the diagnosis of epilepsy especially the interictal
glutamate transporter defect, Menkes disease to mention recording.
a few. Some of the treatable metabolic disorders with Once the seizure type is determined, the epilepsy is then
seizures include pyridoxine responsive seizures, folinic acid categorised as an electroclinical syndrome, constellation,
responsive seizures and seizures due to biotinidase deficiency. structural/metabolic epilepsy or epilepsy of unknown cause.
Hyponatraemia can result from water intoxication, retention An electroclinical syndrome is a complex of clinical features,
of water and acute infections of the brain. Hypernatraemia signs, and symptoms that together define a distinctive,
occurs due to severe hypertonic dehydration, inappropriate recognisable clinical disorder. This includes West syndrome,
use of oral rehydration solution. Intoxications with Dravets syndrome, Myoclonic epilepsy in infancy,
pesticides, organophosphorus compounds and drug overdose Febrile seizure plus syndrome, Lennox-Gastaut syndrome,
due to phenothiazines, salicylates can cause seizures and so Landau-Kleffner syndrome (LKS), Benign epilepsy with
also lead poisoning. Finally, hypertensive encephalopathy as centrotemporal spikes (BECTS), earlier referred to as
a cause of convulsions in childhood is not excessively rare. Rolandic epilepsy, Juvenile myoclonic epilepsy (JME) to
Unprovoked seizures are the result of a brain disorder mention a few. This syndromic diagnosis has implications
producing recurrent spontaneous paroxysmal discharges of for treatment, management, and prognosis. Electroclinical
cerebral neurones. The term epilepsy is used when two or syndromes also have strong developmental and genetic
more unprovoked seizures occur at an interval of greater than components. Constellations are epilepsy disorders which
24 hours apart. However the close inter-relationship between till date do not have a genetic basis but have characteristic
the provoked and unprovoked groups, which overlap each clinical features due to a specific lesion or cause. These
other, must not be forgotten. It should be stressed further include mesial temporal lobe epilepsy with hippocampal
that in a high proportion of children with epilepsy and in a sclerosis, epilepsy with hemiconvulsion and hemiplaegia and
similar proportion with provoked seizures a family history Rasmussen syndrome. Structural/metabolic epilepsy as the
of epileptic seizures or of infantile convulsions is obtainable. term implies, refers to epilepsy due to a specific structural
Whereas there is a 1 in 200 risk of any child or adolescent or metabolic lesion or condition. Epilepsies of unknown
experiencing an epileptic seizure, approximately one-third cause in the past were termed cryptogenic and will include
of the children and adolescents with learning disabilities, epilepsies of unknown cause.
Diseases of Nervous System 371
A patient is said to be in status epilepticus when seizure a brief upward rotation of the eyes in which the EEG
lasts or occurs in succession for more than 30 minutes shows a characteristic 3 per second spike-and-wave pattern.
without intervening periods of recovery. All seizures Consciousness and activity are resumed immediately after a
lasting more than 5 minutes have the risk of progressing few seconds. There is no post-ictal confusion or drowsiness.
to status epilepticus and hence are now termed threatened Activation, particularly hyperventilation, often can precipitate
or impending status epilepticus. The time duration has electrical and clinical seizures. Having the patient take about
been modified so that aggressive treatment can start after 60 deep breaths per minute for 34 minutes often precipitates
510 minutes of active seizures to reduce morbidity and a typical attack. Absence seizures are differentiated from
mortality. Refractory status epilepticus includes seizures complex partial seizures by their increased frequency, shorter
that last beyond 30 minutes despite adequate initial doses duration, absence of loss of body tone, balance or post-ictal
of 2 or 3 anticonvulsant medications. It is a true medical phenomenon. The distinction is important in treatment.
emergency and can end fatally or with permanent sequelae of Childhood absence epilepsy (earlier termed pyknolepsy) has
hypoxic brain damage. Secondary metabolic complications its onset between 4 years and 10 years of age and two-thirds
appear when convulsive status is prolonged. Lactic acidosis of the patients are girls. More than 90% of them remit by 12
becomes prominent and cerebrospinal fluid pressure rises. years of age and the rest of them develop infrequent GTCS
Initial hyperglycaemia is followed by hypoglycaemia and in adult life.
autonomic dysfunctions appear consisting of hyperthermia,
excessive sweating, dehydration, hypotension and eventually Myoclonic Seizure
shock. Cardiovascular, respiratory and renal failure may Myoclonic jerks are shock-like, irregular and often
result. arrhythmic, clonic-twitching movements that are singular or
repetitive. They predominantly affect the eyelids, facial and
Generalised Seizures neck muscles, the upper limbs more than the lower limbs
Generalised seizure is a seizure that has an initial semiology and the body. They may occur as the sole manifestation of
which indicates or is consistent with more than minimal epilepsy or in children who also have grand mal seizures. The
involvement of both cerebral hemispheres. This includes muscular contractions may be sufficiently violent to throw
tonic-clonic, absence, myoclonic, clonic, tonic and atonic the child to the ground causing injuries or they may drop
seizures. things. This type of epilepsy occurs due to multiple cause
particularly degenerative and metabolic disease. The EEG
Tonic-Clonic Seizure (Grand Mal) frequently shows atypical slow spike-and-wave or polyspike
A generalised tonic clonic seizure (GTCS) is the commonest, discharges, which are more or less asymmetrical.
dramatic clinical manifestation of a seizure. Its features
include sudden loss of consciousness, possible injury from
Infantile Spasms
falling, tonic followed by clonic spasms, tongue biting, These attacks, often extremely numerous each day, consist of
possible urinary or faecal incontinence, and frothing at the a series of sudden jerks of the whole body, head and limbs.
mouth. It is followed by post-ictal sleep, or a period of Most often the head and trunk flex suddenly forward while
confusion or automatism. A careful examination is essential the arms jump forwards (salaam seizures) or up along side the
to exclude a provoking cause, which requires specific head, but the spasms may also be opisthotonic (extensor) in
treatment. In febrile convulsion the convulsion is short, nature. Mixed flexor-extensor spasms are the most common
solitary and occurs at the onset of the illness. A prolonged type followed by flexor spasms; extensor spasms are the
or recurrent convulsion in a febrile child may well herald least common. Infantile spasms are the defining clinical
idiopathic epilepsy and the physician should be guarded in manifestation of West syndrome, the onset of which is usually
his prognosis in these circumstances. In grand mal epilepsy between the ages of 3 months and 9 months. Other causes
the EEG shows most often frequent high-voltage spikes, of infantile spasms include perinatal insults as hypoxia,
but there may instead, or in addition, be spike-and-wave or hypoglycaemia and intracranial haemorrhage, or to prenatal
slow-wave patterns. Even a normal EEG is not uncommon causes such as developmental malformations, toxoplasmosis
in major epilepsy and in no sense excludes such a diagnosis and tuberous sclerosis, or to an inborn metabolic error such as
when the history is typical. phenylketonuria. The fits often become less frequent with the
passage of time and may cease spontaneously. The EEG always
Absence Seizure (Petit Mal) shows gross abnormalities; the most severe and characteristic
The hallmark of an absence attack is a sudden onset, has been termed hypsarrhythmia. This amounts to total
interruption of ongoing activities, a blank stare with possibly chaos with asynchrony, high amplitude irregular spike-
372 Hutchison's Paediatrics
and-wave activity, no recognised discharges and no formal speaking or incoherence is common. The most distressing
background activity. The triad of infantile spasms, arrest of features involve mental disturbances, e.g. violent tantrums,
psychomotor development and hypsarrhythmia has become dream-like states or the dj vu phenomenon (the mental
known as the West syndrome. Idiopathic and cryptogenic impression that a new experience has happened before).
infantile spasms have a better prognosis than symptomatic Various types of visual, auditory or olfactory hallucinations
cases. Development is normal or mildly impaired in only less may occur. There may be post-ictal confusion or sleepiness.
than 10%, and the rest show various degrees of psychomotor This type of epilepsy is often difficult to diagnose in
retardation. childhood because the young child is unable to describe the
emotional or sensory elements of the seizures. It may take
Atonic Seizures various forms, each rather bizarre and their epileptic basis
In these attacks the child suddenly loses muscle tone and should be indicated by their continued recurrence without
drops to the floor with transient unconsciousness. This type obvious cause. The EEG typically shows a focal discharge
of seizure is usually seen in children with Lennox-Gastaut from the temporal lobe, slow wave or spike-and-wave. Some
syndrome. children show spikes originating from other lobes. The most
commonly described syndrome is mesial temporal lobe
Focal Seizures epilepsy with hippocampal sclerosis. This may be a sequel to
perinatal hypoxia but status epilepticus itself, as in prolonged
Focal seizures replace the older terminology of partial febrile convulsion, may be the asphyxial incident, which
and localisation-related epileptic seizures. A focal seizure is followed by temporal lobe seizures. Other pathologies
denotes a seizure semiology which indicates or is consistent identified include hamartoma, vascular malformation, post-
with initial activation of only part of one cerebral hemisphere. encephalitic gliosis and low-grade tumours.
The ILAE 2010 classification does not distinguish focal Both these groups can evolve to a bilateral convulsive
seizures into simple partial (without impairment of seizure which replaces the term secondarily generalised
consciousness) and complex partial (with impairment of seizure.
consciousness) seizures.
Focal seizures are described as those without impairment Diagnosis
of consciousness or awareness with observable motor or
autonomic components or involving subjective sensory or The first step is to make sure the child actually had a seizure.
psychic phenomena. This would correspond to the concept This depends on a careful history from a witness of the
of simple partial seizure. Here the twitching or jerking starts event and a thorough neurological examination. An EEG
in one area, arms or limb, and spreads in an orderly fashion (electroencephalogram) is the most important investigation
until one half of the body is affected. This may be followed in the diagnosis and management of epilepsy as it helps in
by a transient hemiparesis-Todd paralysis. In simple sensory the categorisation of the epilepsy. A sleep deprived EEG
seizures, the patient complains of paraesthesia or tingling in improves the sensitivity in identifying abnormalities. The
an extremity or face. Simple partial seizures often indicate next important investigation is neuroimaging. Magnetic
structural brain disease, the focal onset localising the organic resonance imaging (MRI) is superior to CT (computed
lesion. Conjugate deviation of the head and eyes to one side tomography) in identifying structural causes of epilepsy.
may indicate a lesion in the opposite frontal lobe. Tingling in Functional neuroimaging like SPECT (single photon
a foot incriminates the opposite post-central sensory cortex. emission computed tomography), PET (positron emission
Neurocysticercosis is a common cause of simple partial tomography) and fMRI (functional MRI) help in localising
seizures in places where tape worm infestation is prevalent. cerebral dysfunction and is currently supplementary to MRI.
The other group of focal seizures includes those with Blood glucose and calcium measurement should be
impairment of consciousness or awareness and corresponds to performed if an underlying provoking factor is suspected.
the concept of complex partial seizure. These attacks generally Seizures in the first year of life or if associated with
consist of an aura followed by impaired consciousness developmental delay will warrant a wider metabolic screen.
and automatism. The aura may take many forms, e.g. Routine lumbar puncture is not indicated unless there is a
sudden fear, unpleasant smell or taste, abdominal pain or reasonable suspicion of a CNS infection.
tinnitus. Impaired consciousness may be brief and difficult
to appreciate. The automatic behaviour frequently consists
Differential Diagnosis
of abnormal repetitive movements, e.g. jaw movements, Paroxysmal clinical events that mimic seizures are termed as
smacking the lips, eye fluttering or blinking, or staring, nonepileptic seizures and this forms an important differential
clasping or fumbling with the hands. Sudden difficulty in diagnosis for epileptic seizures. These are broadly grouped
Diseases of Nervous System 373
as physiological nonepileptic seizures and psychogenic Psychogenic nonepileptic seizures: These are paroxysmal
nonepileptic seizures. Conditions in the first category are seizure like events that occur as a result of psychological
many and in children they include breath-holding attacks, disturbances. The clues to diagnosis of psychogenic
reflex anoxic seizures, syncope, tics, movement disorders, nonepileptic seizures are that they can be precipitated by
migraine, benign paroxysmal vertigo, narcolepsy, night stressful circumstances and in response to suggestion, they
terrors. Psychogenic nonepileptic seizures were earlier usually occur in the wakeful state and in the presence of
termed pseudoseizures. witnesses, they lack stereotypicality, consciousness is retained
throughout the event or shows fluctuation and the movements
Breath-holding Attacks involve flailing of limbs, pelvic thrusting and eye closure.
These occur not infrequently in infants or toddlers and they Attempts to open the eyes passively results in tightening of
are usually precipitated by pain, indignation or frustration. the eyelids. There is no actual post-ictal confusion and the
There are two types of breath-holding attacks, the more events are resistant to antiepileptic medication. Psychogenic
common cyanotic form and the less common pallid form also seizures are also very troublesome and can result in school
called as reflex anoxic seizures. absenteeism and distress to the entire family. Treatment
involves gentle reassurance and involvement of a child
Cyanotic breath-holding attacks: Shortly after the onset of
psychiatrist.
a fit of loud crying, the infant or toddler suddenly stops
breathing in expiration and becomes cyanosed. If inspiration Treatment
does not quickly follow the infant loses consciousness and
goes rigid with back arched and extended limbs. He may General
have a few convulsive twitches. Respiration always starts
Most seizures are often self-limited and would have subsided
again with rapid recovery and there is no danger to life.
by the time the child reaches a health care facility. If the
These attacks cease spontaneously as the child matures
child is still convulsing, airway respiration and circulation
usually before 5 years of age. EEG shows no abnormality.
are first assessed and maintained. This is followed by
The parents need to be reassured about its harmless nature
prompt termination of seizure activity by administration of
and natural course. No specific treatment is necessary apart
0.1mg/kg IV Lorazepam or 0.2 mg/kg IV of Diazepam. If
from correction of anaemia if present.
vascular access is not possible, rectal diazepam at 0.5 mg/kg
Pallid breath-holding attacks (reflex anoxic seizure): These or intranasal midazolam may be administered. Cessation of
occur in infants and children who have exaggerated vagal seizure is followed by the determination of the underlying
cardiac reflexes. Attacks may be precipitated by pain, which cause and treatment of this where possible.
causes reflex cardiac asystole with sudden onset of extreme
pallor, loss of posture and muscular hypotonia, and at times Anticonvulsants
a tonic seizure. Recovery takes place as quickly as the onset
The majority of children with a first unprovoked seizure will
with the resumption of ventricular contractions. No treatment
not have a recurrence. Hence anti-epileptic drug treatment
is usually necessary. However if attacks are very frequent,
oral atropine sulphate may be given. should not be commenced routinely after a first unprovoked
tonic-clonic seizure. Risk factors for recurrence include
Syncope: Neurocardiogenic syncope is the most common
remote symptomatic aetiology, abnormal EEG, a history
cause of transient loss of consciousness and is an important
of prior febrile convulsions and age less than three years.
differential for epilepsy. It is also called vasovagal syncope
In newly diagnosed epilepsy, the aim of the treatment is to
and as the name implies is vagally mediated resulting in
control, or prevent if possible, the recurring seizures, and to
vasodilation and bradycardia. In the majority of cases there
achieve this with one drug. The choice of the antiepileptic
is a trigger in the form of prolonged standing, fear, severe
pain or emotional distress. The child complains of light drug should be determined where possible by the syndromic
headedness, then loses body tone and falls with brief loss of diagnosis and potential adverse effects. Generalised tonic
consciousness up to 130 seconds and pallor. Convulsions clonic seizures can be treated with sodium valproate,
occur in 7090% of neurocardiogenic syncope and they may carbamazepine, phenytoin or phenobarbitone. Ethosuximide
be myoclonus, tonic flexion or extension. The recovery is and sodium valproate are both effective in controlling absence
rapid with no post-ictal confusion. Diagnosis is established epilepsy. Myoclonic epilepsy is usually treated with sodium
with a typical history and the tilt table test. In the majority of valproate or clonazepam. The first line drug in focal seizures
cases, treatment involves preventive measures like avoidance is carbamazepine. However sodium valproate, phenytoin,
of trigger factors and adequate hydration. A few may require lamotrigine, levetiracetam, clobazam, oxcarbazepine and
drug therapy. vigabatrin are all effective as monotherapy in the treatment
374 Hutchison's Paediatrics
of focal seizures. In drug resistant generalised epilepsy, major side effects of benzodiazepines are behavioural with
clobazam, clonazepam and lamotrigine are effective as clobazam and clonazepam causing over activity, aggression,
add-on treatments. Lamotrigine, gabapentin, topiramate, sleep disturbance and poor concentration. In some children
oxcarbazepine and levetiracetam are effective as add-on excessive sedation and hypotonia occur. Development of
therapies for focal seizures. tolerance to their antiepileptic effects is another problem.
The treatment of infantile spasms (Wests syndrome) Clonazepam is started with a single evening dose of 250500
is unsatisfactory; they are resistant to most conventional micrograms gradually increasing to a daily dose of 0.10.2
anticonvulsant drugs, although they sometimes cease mg/kg per day in three divided doses. Phenobarbitone causes
spontaneously with time. At present, corticotrophin (ACTH) impairment of cognitive function, drowsiness, restlessness
or corticosteroids is recommended as first line treatment. and behaviour disturbances in a fair proportion of patients.
The therapeutic efficacy of these two drugs is relatively Antiepileptic drugs have teratogenic side effects.
equal and one may be effective if the other drug fails. Overall, 6070% of the children who have been seizure
ACTH is given intramuscularly in doses of 40 units/day and free on drugs for two years or more will remain seizure
prednisolone is given orally in doses of 2030 mg/day. A free when the drugs are withdrawn. Sudden discontinuation
21-day course of treatment is usually sufficient; although in of antiepileptic drugs, particularly phenobarbitone and
some cases prolonged but reduced dosage is necessary. In benzodiazepines should be avoided.
Wests syndrome secondary to tuberous sclerosis, vigabatrin
is superior. Benzodiazepines like clonazepam and nitrazepam Status Epilepticus
are the alternative drugs for the treatment of infantile spasms. Status epilepticus being a medical emergency requires rapid
Adverse effects from antiepileptic drugs are common and a stepwise approach to treatment. Parents of children
and are a major cause of discontinuing drug treatment. who have a tendency to develop status epilepticus should be
Many adverse effects are dose related and predictable. taught to start treatment at home itself. Benzodiazepines are
These can be minimised by gradual escalation of the dose,
the preferred drug for the initial management. This would
regular monitoring of the serum concentration of the drug
include buccal or intranasal midazolam (0.2 mg/kg) or rectal
and appropriate dose reduction. Idiosyncratic drug reactions
diazepam (0.3 mg/kg). Once in the emergency room, after
usually arise early in treatment. Rash is a common adverse
the initial stabilisation with giving oxygen, stabilising airway,
effect in children and is associated with carbamazepine,
respiration and haemodynamics, IV access is obtained and
phenytoin and lamotrigine. Rarely, a severe hypersensitivity
Lorazepam (0.1 mg/kg) is given. Care is taken to avoid
syndrome may occur which may be life-threatening. Sodium
hypoglycaemia, hyperglycaemia and hyperthermia. At
valproate has very little sedative action. The dosage is 2030
mg/kg per day given in a twice-daily dose. Adverse reactions least two doses of the benzodiazepine are given. If seizures
include mild nausea, vomiting and transient alopecia. persist, the second line anticonvulsant is administered and
Significant weight gain can occur. In a few children it has this may be Fosphenytoin or Phenytoin (up to 20 mg/kg
caused acute liver failure and pancreatitis. The value of per dose). If seizures continue 10 minutes after this, the
estimating the serum concentration of valproate is less than for third line anticonvulsants are administered, which may be
other drugs as it seems to have a longer action than its half-life IV Levetiracetam or Sodium valproate or Phenobarbitone.
(414 hours) would suggest. Tremor and thrombocytopaenia Meanwhile further investigations like a complete blood count,
are dose related side effects. Carbamazepine rarely causes basic metabolic panel, liver function tests are carried out.
drowsiness and has considerable advantage for children and If seizures persist beyond this level, it is termed refractory
adolescents, in whom learning ability is very important. It status epilepticus and the child is admitted to the paediatric
may cause ataxia if started in full doses too abruptly. The intensive care unit for initiation of pharmacologic coma with
usual dose is 1020 mg/kg per day given in 23 divided midazolam or if refractory to this as well, then thiopentone
doses started at a lower dose and increased gradually. or pentobarbital or propofol is initiated. Status epilepticus
Phenytoin is given in a dose of 510 mg/kg/day in 2 divided needs management in a tertiary care centre and needs referral
doses. There are many interactions between phenytoin and after the initial stabilisation.
other drugs. Over dosage results in ataxia and it is helpful
to monitor serum concentration. An unwelcome although Social Management
reversible side effect is hypertrophy of the gums, seen in A child with epilepsy whose convulsion can be prevented
a sizeable proportion of patients. Prolonged medication or rendered infrequent should attend an ordinary school
can result in hirsutism, coarsening of the facies towards an and live as normal a life as possible. The physician must by
acromegaloid appearance and acne. Very rarely in children explanation and advice bring the parents to accept the need
it causes megaloblastic anaemia responding to folic acid. The for an unrestricted existence and even to accept a few risks.
Diseases of Nervous System 375
Certain restrictions such as riding a bicycle in the city streets recurrence of febrile seizures. High-risk cases with several
or swimming unsupervised are clearly unavoidable, but they risk factors may be given sodium valproate (2040 mg/kg
should be reduced to the minimum. For many children and per day) or phenobarbitone (35 mg/kg per day) for one and
their families, social and psychological factors far outweigh half years to two years.
those problems associated with the prevention and control
of seizures. Families who have a child with epilepsy should CHILDHOOD STROKE
be given clear, accurate and appropriate information about
Childhood stroke is defined as a cerebrovascular event
the condition, its treatment and the implication for everyday
occurring between 28 days and 18 years of age. This
living. A multidisciplinary approach provided within a
encompasses ischaemic stroke and haemorrhagic stroke.
specialist clinic, with support and advice from a clinical
Ischaemic stroke includes arterial ischaemic stroke and
nurse specialist, with help from relevant voluntary support
cerebral venous sinus thrombosis while haemorrhagic stroke
organisations and occasionally from psychologists and
includes spontaneous intracerebral haemorrhage and non
psychiatrists has proved helpful to some families. Special
traumatic subarachnoid haemorrhage. The annual incidence
schooling may be necessary for the learning-impaired child
of stroke ranges from 1.52.5 per 100,000 children and of
with epilepsy. Schools should be given written information
this 50% are arterial ischaemic stroke, 40% haemorrhagic
on epilepsy and its management.
stroke and the rest venous sinus thrombosis. The causes
for childhood stroke are many (Table 18.3). One-third of
FEBRILE SEIZURES them have an underlying disease, one-third have vascular
Febrile seizures are convulsions precipitated by fever, not malformations and in the rest the aetiology remains unclear.
due to an intracranial infection or other definable CNS Often more than one risk factor is identified.
cause. Febrile seizures are the most common type of seizures
during childhood with an incidence of 34%. They are age Clinical Features
dependent and occur between 6 months and 5 years of age The clinical presentation depends on the territory of ischaemia
and are precipitated by a rapid rise of temperature to 39C or bleed. As a rule children with arterial ischaemic stroke
or greater due to viral fever, URI, acute otitis media, etc. in present with sudden onset focal neurological deficits without
the early course of the fever. There may be a family history major alteration of consciousness unlike more common
of febrile seizure in parents or siblings. paediatric illnesses like encephalitis, complex partial and
generalised seizures which often have alteration of awareness.
Clinical Features Focal neurological deficits could include hemiparesis, visual
field defects, aphasia, cranial nerve palsies, dysphagia and
Febrile seizures are classified as simple (85%) or atypical/
unilateral ataxia. Anterior circulation infarcts are more
complex (15%). The majority (simple) seizures are typically
common. Larger strokes tend to have multiple deficits and
brief generalised tonic-clonic seizure lasting a few seconds to
alteration of consciousness.
a few minutes followed by full recovery. Febrile seizures are
Haemorrhagic strokes have a much more dramatic
considered as atypical/complex when the duration of seizure presentation with alteration of consciousness, nausea,
is longer than 15 minutes, repeated convulsions occur within vertigo, vomiting, headache and seizures.
the same day, when the seizure is focal or post-ictal focal Children with venous sinus thrombosis have protracted
deficit is noted. Febrile seizure lasting more than 30 minutes severe headache with vomiting as their starting symptoms
may be called febrile status and may leave a sequel, if followed by focal neurological deficits and seizures when
untreated; particularly temporal lobe epilepsy due to mesial they go onto develop venous infarction.
temporal sclerosis. The underlying disease, if already known, will give a clue
The risk of recurrence of febrile seizure is 30%. Most to the type of stroke. For example arterial ischaemic stroke is
recurrences occur within the first year of the first febrile seen in children with cardiac diseases, chronic meningitis like
seizure. The future risk of epilepsy is 1% in simple febrile tuberculosis, varicella infection and haemoglobinopathies.
seizure and 9% when two or more risk factors are present. Thrombosis of the internal carotid artery may result from
The risk factors are atypical febrile seizure, a positive trauma caused by falls on objects, e.g. a pencil in the mouth,
family history of epilepsy, an initial febrile seizure before 9 which penetrates the tonsillar fossa. Children with bleeding
months of age, delayed developmental milestones or a pre- disorders are more likely to have haemorrhagic strokes and
existing neurological disorder. Intermittent prophylaxis with children with dehydration, nephrotic syndrome and older
clobazam in a dose of 0.5 mg/kg per dose q12h 2 days at girls on oral contraceptive pills are likely to develop venous
the onset of fever has been found to decrease the chance of sinus thrombosis.
376 Hutchison's Paediatrics
Table 18.3: Causes of childhood stroke Vascular imaging also needs to be performed along with
Arterial ischaemic stroke this like magnetic resonance angiography (MRA) (Figs 18.6
Cerebral arteriopathy Moyamoya disease and 18.7) and magnetic resonance venography (MRV).
Moyamoya syndrome MRA will demonstrate arteriopathy, dissection, stenosis,
Focal cerebral arteriopathy of
childhood
Post varicella arteriopathy
Vasculitis
Isolated CNS vasculitis
Post-infectious
Arterial dissection
Cardio-embolic Congenital heart disease
Acquired heart disease
Haematological Sickle cell disease
Iron deficiency anaemia
Thrombocytosis
Protein C/S deficiency
Factor V Leiden mutation
MTHFR mutation
Undetermined aetiology
Haemorrhagic stroke
Arteriovenous malformation
Cerebral aneurysm
Bleeding disorders
Cerebral venous sinus thrombosis
Dehydration
Fig. 18.5A: CT brain of a 12-year-old showing acute infarct involving
Hypercoagulable disorders the right internal carotid (IC) artery territory. Note the loss of grey white
Iron deficiency anaemia differentiation
Stroke Mimics
Acute onset of focal neurological deficit in a child need not
be due to a cerebrovascular event and can have multiple other
aetiologies. These are called stroke mimics and the differential
diagnosis for this includes infectious or inflammatory causes
like encephalitis, haemophilus influenzae, meningitis,
tuberculous meningitis, brain abscess from middle ear infection
or congenital heart disease and demyelination like acute
disseminated encephalomyelitis. Prolonged focal seizures can
cause a temporary paralysis called Todds paresis which can
persist for up to 4872 hours. Metabolic disorders associated
with focal neurological deficits include hypoglycaemia,
MELAS, homocystinuria and Fabry disease.
Diagnosis
Diagnostic evaluation needs to be extensive firstly to
differentiate strokes from stroke mimics and secondly to
determine the cause of the cerebrovascular event. In the acute
stage, a plain CT (computerised tomography) brain will help
to identify haemorrhage, abscess and tumours. This has to
be followed by a MRI of the brain with diffusion-weighted Fig. 18.5B: Diffusion-weighted imaging of the same child showing
images (Figs 18.5 A and B) to assess acute ischaemic zones. restricted diffusion in the right IC territory
Diseases of Nervous System 377
irregular contour or intra-arterial thrombosis of the head sedimentation rate, C-reactive protein to assess biochemical
and neck and MRV will demonstrate cerebral venous sinus evidence of systemic inflammation which could suggest
thrombosis. Further vascular imaging in the form of CT vasculitis or infection and complete thrombotic profile.
angiography or conventional angiography is warranted if If vasculitis is suspected, rheumatological evaluation like
further neurovascular intervention is planned. testing of antinuclear antibody, rheumatoid factor should
For arterial ischaemic stroke, transthoracic echo be considered. A lumbar puncture is indicated if infectious
cardiography is another important diagnostic imaging to or inflammatory states are considered and in this it would
detect congenital or acquired cardiac anomalies including be advisable to perform routinely test for herpes simplex
patent foramen ovale. virus (HSV), varicella zoster virus (VZV) and other
Diagnostic laboratory evaluation has to include complete enteroviruses.
blood count, complete metabolic panel, and erythrocyte
Treatment
Initial treatment of childhood stroke involves supportive
measures like airway stabilisation, administration of oxygen,
maintenance of euglycaemia and treatment of seizures if
present. The acute and maintenance treatment guidelines for
childhood strokes are based on consensus, cohort studies and
extrapolation from adult studies. Treatment of stroke with
sickle cell disease requires exchange transfusion to reduce
haemoglobin S to levels less than 30% for acute stroke and
continue blood transfusions every 36 weeks to keep HbS
less than 30%. Commonly childhood arterial ischaemic
stroke is treated with unfractionated heparin (UFH) or
low molecular weight heparin (LMWH) for 57 days and
until cardioembolic stroke or dissection is excluded. Oral
anticoagulation is continued for a further 6 months in
Fig. 18.6: MR angiogram of a 9-year-old child with posterior circula-
tion stroke following varicella infection, showing focal narrowing of the cases of cardioembolic stroke and dissection. Vasculopathy
basilar artery (arrow) including moyamoya disease and syndrome are treated with
A B
Figs 18.7A and B: MR angiogram of a 7-year-old child showing supraclinoid narrowing (white arrows) of both the internal carotid artery with
multiple distal collaterals. The T2W image of the same child shows bilateral frontal infarcts (black arrows)
378 Hutchison's Paediatrics
MOVEMENT DISORDERS
The control of voluntary movement is affected by the
interaction of the pyramidal, extra-pyramidal and cerebellar
systems. The effects of disease of the extra-pyramidal system
on movement are bradykinesia, rigidity, postural disturbance
and involuntary movements namely chorea, athetosis, tremor
and dystonia. Chorea is a jerky, semi-purposive, non-
repetitive involuntary movement affecting the limbs, face
and trunk. Causes of chorea in childhood include rheumatic
chorea, extra-pyramidal cerebral palsy, Wilsons disease and
post-encephalitic sequelae.
Wilsons Disease
This disease, inherited as an autosomal recessive trait, is an
inborn error of copper metabolism resulting in an excessive
accumulation of copper in the liver, brain, cornea and other
tissues. The gene for Wilsons disease has been mapped to
chromosome 13.
Clinical Features
Fig. 18.8: Post-gadolinium sagittal image of the brain of a 5-year-old Hepatic presentation in the form of jaundice, hepatomegaly,
with nephrotic syndrome who presented with two week history of cirrhosis or portal hypertension, is predominant in children
severe holocranial headache and MRI showing filling defect in the
superior sagittal sinus (arrow) suggestive of cerebral venous sinus
younger than 10 years of age. Neurological presentation
thrombosis is predominantly in older children with basal ganglia
lesion, e.g. coarse tremors of the extremities (wing-beating
tremor), dystonia, dysarthria, dysphasia, drooling, emotional
oral aspirin (13 mg/kg per day) both in the acute phase instability, deterioration in school performance and dementia
as well as in the maintenance phase. Moyamoya syndrome (Fig. 18.9). A characteristic finding is the Kayser-Fleischer
is eventually treated with neurosurgical approach aimed at ring, a golden brown discoloration due to deposition of copper
revascularisation. There is still not enough evidence for use at the corneal limbus (Fig. 18.10).
of intravenous and intra-arterial thrombolytic therapy in
acute arterial ischaemic stroke in childhood.
Cerebral venous sinus thrombosis (Fig. 18.8) is treated
initially with UFH or LMWH for 57 days and then oral
anticoagulation for another 36 months.
Haemorrhagic strokes are referred to the neurosurgical
team for possible evacuation of the hematoma. This is
followed by specific surgical treatment for the aneurysm or
arteriovenous malformation (AVM).
Prognosis
The risk for recurrence varies approximately between
20% and 40%. Recurrence risk is increased in those
with a specific coagulation abnormality or vasculopathy.
Long-term sequelae of the stroke itself includes residual
neurologic deficits, learning disabilities, seizures and
cognitive impairments. This depends on the location
and extent of cerebrovascular insult and other comorbid
conditions. This, in turn, requires long-term rehabilitative
and neuropsychological input. Fig. 18.9: Dystonic posture in a child with Wilsons disease
Diseases of Nervous System 379
Treatment
There is no specific treatment and therapy is symptomatic and
includes genetic counselling and early detection of treatable
complication. Neurosurgical intervention is often necessary
to remove symptomatic tumours of the central and peripheral
nervous system.
STURGE-WEBER SYNDROME
(ENCEPHALOFACIAL ANGIOMATOSIS)
This disease consists of cutaneous port-wine haemangioma
of the upper face and scalp, which is predominantly limited
by the midline, and a similar vascular anomaly of the
underlying leptomeninges on the same side (Fig. 18.13). The
brain beneath becomes atrophic and calcified particularly in
the occipital and parietal regions (Fig. 18.14). The mode of
inheritance of this disease is not clear.
The port-wine stain is present at birth. Convulsions
confined to the contralateral side of the body develop in infancy.
In time a spastic hemiparesis and hemiatrophy may develop
Fig. 18.11: Tuberous sclerosis. Hypopigmented macule on the contralateral side. Mental deterioration ultimately
Diseases of Nervous System 381
ATAXIATELANGIECTASIA
(LOUIS-BAR SYNDROME)
Ataxia telangiectasia is characterised by progressive cerebellar
ataxia, oculocutaneous telangiectasia, choreoathetosis,
recurrent sinopulmonary infections, and immunological
dysfunction. It is an autosomal recessive condition with the
abnormal gene located to chromosome 11. The first symptom
to appear is a progressive cerebellar ataxia beginning in the
second or third year of life. There may be, in addition,
choreoathetotic movements and a tendency to turn the eyes
Fig. 18.13: Sturge-Weber syndrome. Port-wine non elevated cutane- upwards when focusing. Telangiectasia appear between the
ous haemangioma in a trigeminal distribution, including the ophthal- ages of 3 years and 7 years. They are found on the bulbar
mic division conjunctiva, malar-eminences, ears and antecubital fossa.
These children suffer severely from infections of the sinuses
and lungs; indeed bronchiectasis is a frequent cause of death.
They have a much higher risk of developing lymphoreticular
malignancy. These are explained by abnormalities of
immunologic function resulting in reduction of serum and
secretory IgA, IgE, IgG2 and IgG4. There is hypoplasia of
the thymus and cellular immunity is also impaired. Alpha-
fetoprotein level is elevated. There is no specific treatment.
Infection should be controlled with suitable antibiotics. In
malignant change, steroids may give temporary relief.
NEURODEGENERATIVE DISORDERS
Fig. 18.14: Sturge-Weber syndrome. CT scan showing intracranial
calcification These are rare progressive degenerative disorders that
usually result from specific genetic and biochemical defects.
appears and progresses. Glaucoma may also develop in the The characteristic features are loss of developmental
ipsilateral eye and require surgical intervention. Radiographs milestones, intellect, speech and vision often associated
of the skull in later childhood show a characteristic double with seizures. They may affect primarily the grey matter,
contour or tramline type of calcification. i.e. cortical neurones resulting in early symptoms of seizures
382 Hutchison's Paediatrics
relatively common disease of infancy inherited as a recessive Spinal muscular atrophy has to be differentiated from
trait. There are four clinical types differentiated by age of other causes of floppy infant syndrome, the causes for
onset and severity of weakness. which include central hypotonia like cerebral malformations,
muscle disorders like congenital myopathy and disorders
SMA Type 1 (Werdnig-Hoffman Disease) of neuromuscular junction like congenital myasthenic
This is the most severe form and may be present at birth or syndrome.
appear within a few weeks. Its onset in utero may be recognised In benign congenital hypotonia, hypotonia dates from or
by the mother because of decreased foetal movements. There soon after birth. The deep tendon reflexes although sluggish
is severe flaccidity and weakness of the muscles of the trunk can usually be elicited and muscle fibrillation is not seen.
and limbs. The proximal muscles tend to be more severely The true diagnosis of benign congenital hypotonia becomes
paralysed than the distal. The deep tendon reflexes are clear with the passage of time (59 years), when slow but
absent. Fasciculation in the muscles of the tongue may be not always complete recovery takes place. Muscle biopsy is
seen. The infant has an alert expression. When the intercostal normal in benign congenital hypotonia.
and other accessory muscles of respiration become affected
dyspnoea, intercostal recession and paradoxical respiration MUSCULAR DYSTROPHY
develop. Eventually the diaphragm is involved rendering the
Muscular dystrophies are a group of inherited disorders
infant prone for chest infection and respiratory failure. The
characterised by progressive degeneration of muscle fibres.
loss of power to suck further aggravates the terminal stages
of the illness. Death usually occurs before 2 years of age. Duchennes Muscular Dystrophy
There is no specific treatment.
This is the commonest type of muscular dystrophy. It is
SMA Type 2 (Intermediate Type) inherited as X-linked recessive trait with a high new mutation
rate. The abnormal gene is located at Xp21 locus on the
This type has a later onset between 7 months and 18 months
X-chromosome, which leads to deficiency of dystrophin
of age. There is progressive weakness with severe wasting
protein in the muscle fibre. The onset is usually before the
leading to deformities particularly scoliosis. They are able to
third or fourth years of life. There may be a history of delay
sit but rarely learn to walk and are confined to wheelchair.
in walking. The child may fall unduly often, or has great
Deaths occur before 10 years of age.
difficulty in climbing stairs. Weakness begins in the pelvic
SMA Type 3 (Kugelberg-Welander Syndrome) girdle and the gait assumes a characteristic waddle so that the
feet are placed too widely apart and there is an exaggerated
This is a milder type of paralysis with onset after the age of lumbar lordosis. A quite characteristic phenomenon Gowers
2 years and is compatible with a prolonged course. There is sign is seen when the child, lying on his back on the floor,
proximal muscle weakness involving the pelvic and shoulder is asked to stand up. He will roll to one side, flex his knees
girdle muscles. Skeletal deformities readily develop. In some and hips so that he is on all fours with both knees and both
cases, the bulbar muscles become involved. These children hands on the ground; he then extends his knees and reaches
may learn to walk, but ultimately become confined to a wheel the erect posture by climbing up his own legs, using his
chair. They may live up to middle age. hands to get higher up each leg in alternate steps. Weakness
of the shoulder muscles may render the child unable to
SMA Type 4 (Adult Type) raise his hands above his head. Pseudohypertrophy of the
Adults have this disease onset usually in the second or third calf muscles with wasting of thigh muscle is characteristic.
decade. Motor impairment is mild and they continue to walk Tendon reflexes become progressively diminished and
with no respiratory complications. finally cannot be elicited. By the age of 10 years the child
Electromyography shows features of denervation is usually confined to a wheel chair. Skeletal and postural
with positive sharp waves, fibrillation and occasional deformities particularly scoliosis may later become severe.
fasciculations. Motor unit action potentials show high Heart may fail from involvement of the myocardium. Mental
potentials with decreased recruitment. Muscle biopsy shows retardation occurs in about 30% of the cases. Death is usual
atrophic fibres with islands of group hypertrophy. during adolescence from intercurrent respiratory infection,
Treatment is currently aimed at good rehabilitation, respiratory or cardiac failure.
prevention of scoliosis and respiratory infections. Trials are The serum creatine kinase is greatly elevated and
on to improve functioning of the SMN protein through non- is often above 10,000 IU/L (normal up to 150 IU/L).
toxic molecules. Motor neurons derived from stem cells are Electromyography (EMG) shows myophathic changes
also being tried in animal trials. and muscle biopsy with immunohistochemical staining for
384 Hutchison's Paediatrics
dystrophin is confirmatory. Periodic cardiac assessment is recessive characteristic. Males and females are equally
necessary. affected.
This rarely appears during the first decade. Weakness
Treatment first becomes obvious in the muscles of the shoulder girdle
There is no effective treatment for this disease. Physiotherapy with winging of the scapulae and difficulty in raising the
is important to prevent or delay contracture. Lightweight arms. Later the muscles of the pelvis girdle become affected.
calipers and later bracing of the spine may prolong The facial muscles are never affected. The disease runs a
ambulation. Steroids such as deflazacort may give short-term slow course but usually leads to death before the normal age.
benefit. Psychological support is needed for the child and the Serum creatine kinase levels may be normal or moderately
family. Healthy female carriers often have elevated serum raised. Muscle biopsy reveals myopathic changes.
levels of creatine kinase. Antenatal diagnosis is possible This type of muscular dystrophy is extremely rare in
using DNA analysis. paediatric practice.
asphyxial episodes due to the aspiration of upper respiratory is effective in some myasthenic children as also intravenous
secretions and saliva. When the facial muscles are affected immunoglobulin therapy. The position of thymectomy in the
a lack of expression is a striking feature. Easy fatigability of treatment of myasthenia gravis in childhood is not yet clear.
muscles is a characteristic feature but muscle atrophy and The indications for thymectomy are inadequate control of the
fibrillary twitchings do not occur. The deep tendon reflexes muscular weakness with drugs and duration of the disease of
are usually present. In the worst cases the muscles of the less than 2 years.
limbs and those responsible for respiration are affected.
As in the adult, the myasthenic child may run a prolonged CONGENITAL MYSATHENIC SYNDROMES
course of remissions and relapses, but there is a tendency
Congenital myasthenic syndromes (CMS) represent a
for the disease to reach a static phase some 5 years from the
heterogeneous group of disorders caused due to abnormalities
onset. There is always a risk of death from aspiration of food
at the neuromuscular junction. The defect may occur at the
into the respiratory passages, from respiratory failure due to
presynapse, synaptic space or post synapse. Post synaptic
the involvement of respiratory muscles or from intercurrent
defects are the most common and include primary acetyl
respiratory infection.
choline deficiency, rapsyn deficiency, and sodium channel
Neonatal myasthenia gravis occurs in newborn infants
myasthenia. All these disorders are autosomal recessive
born to myasthenic mothers and is due to the placental transfer
except for the slow channel syndrome which has autosomal
of antibodies to acetylcholine receptors from mother to baby.
dominant inheritance.
The manifestations include a weak cry, generalised severe
Symptoms are present from birth in most forms. All
hypotonia, feeble sucking reflex and attacks of choking and
myasthenia, except transient neonatal myasthenia gravis,
cyanosis. They are temporary and disappear within a few
that begins at birth is genetic. During infancy, most have
weeks.
ophthalmoparesis and ptosis. Limbs weakness in mild and
Diagnosis respiratory crises is rare.
Therapeutic agents used in CMS depend on the
Myasthenia gravis should be suspected in the presence underlying defect and include acetylcholinesterase inhibitor,
of ptosis, strabismus, bulbar palsy or severe muscular 3, 4-diaminopyridine, quinidine sulphate, fluoxetine,
hypotonia during infancy or childhood. The diagnosis is acetazolamide, and ephedrine.
confirmed by the immediate response to intravenous injection
of edrophoniuma short-acting cholinesterase inhibitor. AUTONOMIC NERVOUS SYSTEM
Atropine sulphate should be available during the edrophonium
test to block acute muscarinic effects. Electromyogram
Familial Dysautonomia
demonstrates decremental response to repetitive nerve
(Riley-Day Syndrome)
stimulation. Anti acetylcholine receptor antibodies may
be measured in the plasma. Although the thymus gland is This is a rare familial, autosomal recessive disorder,
hyperplastic this is not radiologically obvious unless there characterised by autonomic neuropathy and peripheral sensory
is an actual thymoma, which is extremely rare in childhood. neuropathy. The striking features are severe hypotonia,
muscle weakness with areflexia, relative indifference to pain,
Treatment excessive salivation and sweating, absent tears and recurrent
This should be medical in the first instance and it consists pneumonia. The corneal reflex is usually absent. Difficulty in
of a cholinesterase inhibitor. The most useful drug for swallowing is common. There may be delayed psychomotor
continuous treatment is pyridostigmine bromide given development and generalised seizures. Recurrent pyrexial
orally with a starting dosage of 1.5 mg/kg every 38 hours episodes are common. In older children, attacks of cyclical
according to the clinical response. The other drug that can be vomiting with associated hypertension, excessive sweating
given is neostigmine. Over dosage of cholinesterases results and blotching of skin are not infrequent. Urinary frequency
in prolonged depolarisation of muscle end plates and muscle has also been noted in some patients.
paralysis (cholinergic crisis). The short-acting edrophonium
Treatment
may be used to differentiate between cholinergic crisis and
myasthenic crisis. Edrophonium injection will aggravate No specific treatment is available. Prompt treatment of
cholinergic crisis and transiently improve myasthenic crisis. respiratory infection, adequate fluid and electrolyte therapy
Apart from anticholinesterase drugs, immunosuppressive for cyclical vomiting, topical ocular lubricants to prevent
drugs (corticosteroids and azathioprine) may be used to corneal ulcer and psychiatric treatment where indicated are
reduce antibodies to acetylcholine receptors. Plasmapheresis advocated. Most affected children die in childhood.
386 Hutchison's Paediatrics
Brain TumoUr in Children spite of improved perinatal and neonatal care, the incidence
of cerebral palsy over the decades has remained the same,
Brain tumours are the second most common tumour in children. as more preterm babies survive with neuro-developmental
Although the aetiology of most brain tumours are unknown, morbidities.
certain neurocutaneous syndromes like neurofibroma and
tuberous sclerosis predispose to the development of brain Aetiology
tumours. Infants and young children have higher risk
of developing brain tumours. The common histological The causes of cerebral palsy can be generally classified
tumour types aremedulloblastoma/primitive neuro as prenatal, perinatal and postnatal causes. However,
ectodermal tumour, astrocytoma, ependymoma and cranio sometimes, it is impossible to determine the precise cause
pharyngioma. of cerebral palsy in the individual patient and in 15%
Most brain tumours in children are malignant and are of the children, the aetiology is unknown. The prenatal
situated usually in the posterior cranial fossa. The children causes include genetic factors, intrauterine infection during
usually present with signs of raised intracranial pressure pregnancy, radiation, cerebral infarction, metabolic and
which can be mistaken for meningitis. Gait disturbances and toxic factors and hypoxia. Approximately half of all the cases
ataxia are common with cerebellar tumours. Supratentorial of cerebral palsy are associated with preterm delivery and
tumours may present with focal seizures and deficits. low birth weight. The precise nature of this relationship is
Craniopharyngiomas occurring in the suprasellar region is not clear although hypoxia and hypotension are important
minimally invasive and may present with visual disturbances factors. Although the perinatal risk factor of birth asphyxia
and neuroendocrine deficiencies. is a well-recognised cause of cerebral palsy particularly in
Diagnosis of brain tumour is confirmed by neuroimaging the term baby, the incidence of birth asphyxia among cases
studies (MRI/CT scan. See Chapter 32: Figs 32.130, 131A
of cerebral palsy is declining. The main pathological lesions
and B, 132A to C, 134A and B, 135A and B, 136A and B
found in preterm infants who later develop cerebral palsy are
and 137A to D). When brain tumour is suspected lumbar
periventricular leukomalacia and intracerebral haemorrhage.
puncture should not be done as it might produce coning and
Lesions in the full term infants who develop cerebral palsy
sudden death. Surgery is the preferred mode of treatment.
Radiation and chemotherapy have also contributed to are mainly due to hypoxic ischaemic encephalopathy and
improved prognosis. are seen in thalami and basal ganglia or in the cortex and
sub-cortical white matter. Postnatal causes of cerebral palsy
CEREBRAL PALSY include hypoglycaemia, hyperbilirubinaemia, meningitis,
subdural haematoma, acute infantile hemiplaegia and trauma.
Cerebral Palsy (CP) is an umbrella term used for static
Classification of cerebral palsy: Cerebral palsy may be
or non-progressive disorders of the brain affecting the
classified in terms of physiological, topographical, aetiolo
development of movement, posture and co-ordination
gical and functional categories (Table 18.4).
resulting from a lesion of an immature brain. It is one of
the common chronic neurological disorders in children. The
Table 18.4: Classification of cerebral palsy: Cerebral palsy may
International Workshop on definition and classification of be classified in terms of physiologic, topographic and functional
Cerebral Palsy, held in Bethesda, in 2004 defines cerebral categories
palsy as follows: Cerebral palsy describes a group of
developmental disorders of movement and posture, causing Physiologic Topographic Functional
activity restriction or disability, that are attributed to Spastic Diplegia Class I No limitation of
disturbances occurring in the foetal or infant brain. The activity
motor impairment may be accompanied by a seizure disorder Dyskinetic Hemiplegia
and by impairment of sensation, cognition, communication Ataxic Quadriplegia Class II Slight to moderate
and/or behaviour. limitation
The incidence of cerebral palsy is in the region of 2.5 Hypotonic Double hemiplegia
per 1000 live births and has always varied from one country Mixed Triplegia Class III Moderate to
to another. In the developing world, the incidence may be severe limitation
under-rated due to under-reporting and the lack of awareness. Monoplegia Class IV No useful physical
However, a significant number of children world over suffer activity
from cerebral palsy and the issues of healthcare, educational Adapted from Minear WL: A classification of cerebral palsy,
and vocational prospects for these children are large. In Pediatrics. 1956;18:841
Diseases of Nervous System 387
Fig. 18.15: Drawing from Littles monograph illustrating one of his Fig. 18.16: Characteristic scissoring posture in a child with spastic
cases of spastic diplegia (Little deformities of the human frame, 1953) diplegic cerebral palsy
Fig. 18.17: Axial T2 Flair MRI image of brain showing periventricular Fig. 18.19: Axial MRI image of brain showing multicystic encephalo-
leukomalacia and periventricular hyperintensities (arrows) in spastic malacia in spastic quadriplegic cerebral palsy
diplegic cerebral palsy
Fig. 18.20: Child with left hemiplaegic cerebral palsy with flexed and
pronated upper limb and flexed and adducted lower limb
Fig. 18.23: Axial T2W MRI image of brain showing bilateral symmetri-
cal globus pallidi T2W hyperintensities (arrows) in dyskinetic cerebral
palsy
Fig. 18.21: Axial T1W MRI image of brain showing atrophy of the cer-
ebral hemisphere with prominent ventricles (arrows) in hemiplaegic the result of neonatal jaundice or acute severe perinatal
cerebral palsy asphyxia. There is defect of posture and involuntary
movement in the form of athetosis, choreoathetosis,
hands and the feet. Cortical sensory loss and haemianopia rigidity or dystonia (Fig. 18.22). Pathologic findings
are not infrequent. Convulsions and mental retardation include lesions in the globus pallidus (Fig. 18.23),
are seen in about one-fourth of these children. Children subthalamic nucleus and status marmoratus (lesions in the
with right hemiplaegia also have a delay in acquiring basal ganglia and thalamus with a marbled appearance).
language skills and speech. Neuropathologic findings Athetosis: The affected infants go through an early
show an atrophic cerebral hemisphere (Fig. 18.21) or a hypotonic phase characterised by lethargy, poor head
porencephalic cyst. control and feeding difficulty. This is followed after
2. Dyskinetic Cerebral Palsy: This type of cerebral palsy 4 months of age by the dystonic phase associated
results from damage to the extrapyramidal system usually with extensor hypertonia, arching attacks, mass body
390 Hutchison's Paediatrics
movements and abnormal persistence of primitive to everyday life. The associated co-morbid conditions result
reflexes. The stage of involuntary movement is mostly from damage to other parts of the brain by the
obvious after 2 years consisting of slow writhing distal same damaging event. Approximately 50% of the cerebral
movements. When athetosis is caused by kernicterus palsied children have an intelligence quotient (IQ) below 70,
there is often an associated high-tone deafness. The as compared with 3% of the general population. Epileptic
child is dysarthric and drooling may be prominent. seizures are common in cerebral palsied children and speech
Seizures are uncommon and intelligence may be well defects occur in about 50%. Deafness, frequently unexpected,
preserved, but difficult to be quantified by the routine is common in choreoathetoid cerebral palsy particularly
intelligence tests. high-tone deafness. Squints occur in almost one-half of all
Choreoathetosis: In this type the writhing athetotic affected children. Refractive errors are common. Dental
movements have in addition jerky, irregular, problems are also common, such as gingivitis and caries
rapid movements involving the face and proximal due to defective chewing, tooth grinding and malocclusion.
extremities. Stress and excitement may exacerbate Gastro-oesophageal reflux disease and pseudo-bulbar palsy
the chorea. affect feeding and nutrition in these children and often
Dystonia: This type affects the trunk and proximal results in malnutrition. Many children have emotional and
muscles of the limbs and consists of abnormal twisting behavioural problems during growing up years, particularly
and sustained movements, which may be either slow during adolescence.
or rapid. These children tend to be more severely A holistic and complete diagnosis of cerebral palsy should
affected. include in addition to the physiologic and topographic type,
3. Ataxic Cerebral Palsy the functional class, all co-morbidities, neuro-radiological
In a small proportion of children with cerebral palsy, features or a possible neuro-anatomical level and probable
the clinical manifestations indicate a cerebellar defect, etiology. The type, severity and timing of the insult and the
e.g. ataxic reeling gait, intention tremor and past present developmental level will also aid in planning for
pointing, dysdiadochokinesia and muscular hypotonia. management.
Most of these cases are congenital in origin and due
to malformations of the cerebellum and may have an Early Diagnosis of Cerebral Palsy
autosomal inheritance. A few cases are due to perinatal The diagnosis of cerebral palsy (CP) depends upon a
asphyxia and hydrocephalus. Most patients have combination of motor delay, neurologic signs, persistence
congenital hypotonia. Motor milestones and language of primitive reflexes and abnormal postural reactions. An
skills are typically delayed. Truncal ataxia predominates early diagnosis helps in early intervention preventing the
over appendicular signs. secondary deformities. Infants with an abnormal obstetric or
4. Hypotonic Cerebral Palsy: In a few children cerebral palsy perinatal history are at increased risk to develop cerebral
takes the form of a hypotonic quadriplaegia without any palsy and should be monitored closely. Clues to an early
spasticity. Many infants destined to develop typical spastic diagnosis include abnormal behaviour, psychomotor delay
diplaegic or choreoathetoid cerebral palsy pass through a and abnormal oromotor or oculomotor patterns.
hypotonic phase and require continued observation for Neurobehavioural signs suspicious of cerebral palsy are
a definitive diagnosis. In benign congenital hypotonia excessive docility or irritability. A typical history includes
there has usually been a normal birth and later normal poor feeding in the neonatal period. The baby often is
development, whereas in hypotonic cerebral palsy there irritable, sleeps poorly, vomits frequently, is difficult to
has often been perinatal asphyxia and is associated with handle and cuddle, and has poor visual attention.
learning difficulties. Motor tone in the extremities may be normal or increased.
5. Mixed Cerebral Palsy: Mixed cerebral palsy includes Persistent or asymmetric fisting may be present. Poor head
manifestations of two or more types usually of both spastic control and excessive head lag may be early motor signs.
and extrapyramidal types. Often an ataxic component However, increased neck extensor and axial tone may make
is present. These patterns of motor impairment are the head control appear early in cerebral palsy. In many cases
result of involvement of large areas of brain affecting the spasticity may not be identified until six or seven months
cortex, subcortical areas and basal ganglia. of age. Dyskinetic patterns are not typically apparent until
approximately 18 months. Ataxia may not become obvious
Associated Disabilities until even later.
Children who suffer from cerebral palsy frequently have Primitive reflexes in cerebral palsy may be asymmetric or
other disabilities, which are most significant when it comes persistent. In normal infants, most primitive reflexes related
Diseases of Nervous System 391
referral for high risk pregnancies are ideal. Transfer of very which is due to inheritance or defects in the childs genetic
preterm babies in-utero to a higher centre can be a crucial material; and secondary in which the brain, derived from a
intervention in the perinatal period. Postnatally, phototherapy normal germ plasma, has been damaged by environmental
and other interventions for neonatal jaundice and Vitamin influences which may be operative prenatally, perinatally or
K at birth to prevent brain haemorrhage can decrease the postnatally. In some cases both genetic and environmental
neurodevelopmental morbidities at later life. In early factors combine to result in brain damage. It must be stressed,
childhood, child-safe environments at home and community however, that in individual patient, it is quite often impossible
can prevent some of the trauma related morbidities. to determine the precise cause of the mental retardation. For
example, in the case of a severely retarded child, apnoeic and
LEARNING DISORDERS cyanotic attacks in the first week of life could indicate brain
damage resulting from anoxia or respiratory difficulties due
Words used to describe individuals with learning disorders
to malfunctioning of an abnormally formed brain.
such as the terms mental deficiency, mental retardation or
mental handicap are taken to mean a failure of development Genetic Causes
of the mind. This is in contrast to dementia, which means a
disintegration of the fully developed mind. As a group these A large number of single gene defects have been
children have in common learning difficulty. The severely uncovered as causes of learning disorder. Many of these
affected have difficulty learning to walk, feed, dress and fall into the category of inborn errors of metabolism.
communicate. The more mildly affected have difficulty in They are now numerous and include phenylketonuria,
acquiring social and physical skills to enable them to earn a maple syrup urine disease, the organic acidurias,
living and cope with the demands of the society. Words used homocystinuria, argininosuccinic aciduria, Hartnups
to describe the severity of the learning difficulty, e.g. idiot, disease, galactosaemia, pyridoxine dependency, Niemann-
imbecile; feeble-minded, moron have become terms of abuse Pick disease, Gauchers disease, Tay-Sachs disease,
and even the terms mental retardation and handicap are being mucopolysaccharidoses and others such as Sturge-Weber
abandoned. The term learning disability is preferred now and syndrome, tuberous sclerosis and neurofibromatosis. Some
can be either global or specific. cases of sporadic cretinism and all cases of non-endemic
familial goitrous cretinism are also due to single gene
LEARNING DISABILITY (DEVELOPMENTAL defects. Another rare example is familial dysautonomia
RETARDATION) (Riley-Day syndrome). While the single gene defects cited
above are each relatively rare, it has been recognised
When the abilities of a child fall below the -2 standard that X-linked genes are quite frequently responsible for
deviation as compared with the normal population, which non-specific mental retardation. In many of the affected
translates into an intelligence quotient (IQ) of less than 70, males a marker X-chromosome has been identified. The
learning disability or more specific global learning disability marker in this fragile X syndrome is a fragile site
is considered. However, caution needs to be exercised in occurring at band q27 or q28 (i.e. towards the end of the
blindly following intelligence quotient, without looking at long arm) of the X-chromosome. However, not all males
the abilities and needs of child, as most intelligence tests with X-linked non-specific mental retardation have this
assess only a few components of the multiple intelligences. fragile site on the X-chromosome. At least three distinct
The WHO classifies this mental handicap into profound forms of X-linked mental retardation have been described
(IQ 0-20), severe (IQ 20-34), moderate (IQ 35-49) and mild which seem to breed true within families. The most clearly
(IQ 50-70). The child with an IQ between 50 and 70 is definable is found in males with the marker X-chromosome
educable and may require additional educational concessions and macro-orchidism. The enlarged testes become obvious
and inputs. The child with an IQ between 35 and 49 is after puberty and are only occasionally noticeable at birth.
trainable and requires special curriculum and school settings The degree of learning difficulty is usually severe but may
and may become functionally independent. The child with an be mild. Specific speech delay is common and is associated
IQ less than 35 requires regular care and is sometimes even with a characteristic rhythmic quality of litany speech.
dependent for his self care skills. Such children may require Epilepsy may be a feature in some severely affected
an institutionalised care later on. boys. In another group of families both the marker X
chromosome and macro-orchidism are absent but the other
Aetiology
clinical features are indistinguishable from those described
The vast majority of cases of learning disorder can be placed above. In the third type of X-linked mental retardation
in one of two broad aetiological groups, primary amentia there is no marker chromosome but the affected boys
Diseases of Nervous System 393
show microcephaly, severe retardation and small testes. precedes the stagnation stage which moves into regression by
The female carriers of the marker X-chromosome are the second year of life. The regression stage is characterised
generally of normal intelligence although some have mild by rapid developmental deterioration, autistic features and
disability, possibly related to non-random X-inactivation in stereotyped hand movements with loss of purposeful hand
the central nervous system. Chromosome analysis of boys use. Rhythmic hand movements with fingers usually adducted
with non-specific learning disorder is essential for genetic and partly extended are characteristic with patting or lightly
counselling. When the characteristic clinical features clapping them, banging the mouth or wringing and squeezing
described above are present in a boy with no family history intertwined fingers. In some girls there are choreiform trunk
the recurrence risk seems to be about 10%. and limb movements and dystonia. As they grow older the
Some types of mental retardation have been clearly girls become more placid, their lower limbs progressively
related to gross chromosomal abnormalities. The most stiff with wasting, scoliosis and respiratory dysrhythmias,
severe degrees are usually produced by non-dysjunction hyperventilation and apnoeic episodes. A defect in the methyl
during gametogenesis in the mother, leading to trisomy for CpG binding protein 2 (MECP2) gene on X chromosome has
one of the small acrocentric autosomes. In these conditions been linked with most Rett syndromes.
the long-recognised correlation with advancing maternal age Most of the genetically determined types of disordered
has been explained on the assumption that the aging ovum is mental function discussed so far have been of severe to
more prone to favour non-dysjunction. Downs syndrome is moderate degree. On the other hand, rather more than
the most common of the trisomies (about 1.8 per 1000 live 75% of all learning disorders fall into the mild learning
births) and is a major cause of profound and severe learning disability category (IQ 50-70) and cannot be attributed to
disorder. Only a rare case falls into the moderate category. single gene or gross chromosomal abnormalities. Although,
The next most common autosomal trisomies in live-born it is accepted that genetic influences play a major part in
children are trisomy 13 (Pataus syndrome) and trisomy 18 determining the childs intelligence, there is a good evidence
(Edwards syndrome) with frequencies of about 0.5 and 0.1 that environmental influences also affect intelligence.
per 1000 live births respectively. Each causes such severe
and multiple abnormalities including profound learning Environmental Causes
disorders that those affected rarely survive infancy. In some cases learning disability has resulted from damage to
A variety of structural chromosome anomalies have also a normally developing brain by some noxious environmental
been found associated with severe learning disability. The influence. They may operate at various periods in the stage
best defined of these is the Cri-du-Chat syndrome, which is of development. Microbial causes of brain damage account
due to partial deletion of the short arm of chromosome 5. for about 10% of all the cases of learning disorder associated
About two-thirds of the patients have been females and its with microcephaly.
frequency at birth is 1/50,0001/100,000 or less. The name
of this syndrome derives from the characteristic mewing-like Prenatal
cry, which is present from the neonatal period. The birth
Rubella during the first 12 weeks of pregnancy can certainly
weight is low. Both physical and mental developments are
damage the foetal brain. Toxoplasmosis may also be
markedly retarded. In Wolf-Hirschhorn syndrome many
associated with mental retardation. Cytomegalovirus is the
features similar to the cri-du-chat syndrome occur, although
commonest known viral cause of mental retardation. About
the cat-like cry is often absent. It is due to partial deletion of
40% of the women enter pregnancy without antibodies,
the short arm of chromosome 4.
about twice the number who are susceptible to rubella. It
Retts Syndrome has been estimated that about 1% of the pregnant women
in London undergo primary infection and that half of their
In 1966, Rett described 22 mentally handicapped children, all infants are infected in utero. While most of these congenital
of them girls, who had a history of regression in development infections are asymptomatic and only a few exhibit the
and displayed striking repetitive hand movements. It is now severe illness, proportions are subsequently found to have
evident that this clinical disorder affects between 1 in 10,000 learning disorders or to suffer other neurological deficits.
to 1 in 30,000 female infants, with signs of developmental Human immunodeficiency virus infection is a well-known
regression appearing during the first year of life and cause of mental retardation. Maternal irradiation has been
accelerating during the second year of life. shown to result in mental retardation with microcephaly,
These girls, who have normal antenatal, perinatal and and sometimes microphthalmia as in the survivors of the
postnatal periods have normal development till 6 months of Hiroshima and Nagasaki atomic attacks. The effect upon a
age. Slowing head growth beginning 6 months of age usually childs intelligence of adverse environmental factors during
394 Hutchison's Paediatrics
the mothers pregnancy, such as poverty, malnutrition, group are cerebral palsy, the bilateral macular chorioretinitis
excessive smoking and emotional stress are difficult to of toxoplasmosis, Turner syndrome and hydrocephalus.
assess. They might increase the risk of learning disorder by Certain other physical stigmata are seen more commonly in
their association with intrauterine foetal malnutrition. learning disordered than in normal people, but in themselves
they can do no more than direct the physicians attention
Perinatal towards a more careful assessment of the childs intellectual
There is a well-documented association between some of the development. Such peculiarities are a high narrow (saddle-
complications of pregnancy and abnormalities of the brain shaped) palate, abnormally simple ears, hypertelorism,
including mental retardation. These complications such as marked epicanthic folds and short, curved fifth finger. A
antepartum haemorrhage, pre-eclampsia, breech presentation distinctive pattern of altered growth and morphogenesis can
and complicated or instrumental delivery are frequently be recognised in the children of mothers who consume large
associated with intrapartum foetal anoxia. It is, however, quantities of alcohol during pregnancy. They exhibit both
extremely difficult to assess the importance of intrapartum pre-and postnatal growth failure involving weight, length
or neonatal anoxia as a cause of later neurological disability. and head circumference. Neurological abnormalities include
hypotonia, irritability and jitteriness, poor co-ordination,
Postnatal hyperkinesis, and learning difficulties, which may vary
from severe to mild. Dysmorphic features include short
Postnatal causes of mental retardation include meningitis, palpebral fissures (canthus to canthus), epicanthic folds, and
encephalitis, hypoglycaemia, bilirubin encephalopathy, hypoplastic or absent philtrum, thin upper lip, broad nasal
subdural haematoma, hypernatraemia and head injury. Lead bridge with upturned nose and mid-facial hypoplasia. Other
encephalopathy is a rare but undoubted cause of permanent congenital anomalies may involve the heart, genitourinary
brain damage. It remains uncertain whether low-level lead system, eyes, ears, mouth or skeleton. Haemangiomata and
exposures; with blood levels below 1.9 mmol/l (40 mg/100 herniae are not uncommon. Abnormal palmar creases and
ml) may cause some cognitive impairment and possibly hirsutism have also been recorded.
behavioural abnormalities.
Delayed Psychomotor Development
Diagnosis
It is characteristic of the learning disordered child that
In most cases the diagnosis of disordered learning ability his development is delayed in all its parameters. He is
can be made in the first year of life, provided the physician slow in showing an interest in his surroundings, slow in
is familiar with the stages of development in the normal attempting to handle or play with objects, slow to sit or stand
baby and that he realises the variations, which may occur unsupported or to walk on his own, late in speaking, late in
in perfectly normal babies. It is essential that a thoughtful acquiring bladder or bowel control. A lack of concentration
history be obtained from the parents, to be followed by a or sustained interest is also obvious. Thus, after handling a
detailed physical examination of the child. Frequently new toy or object for a minute or two he loses interest and
the child must be seen on several occasions before a final throws it down. His lack of interest in things around him
conclusion is possible. There may be factors which indicate may raise the suspicion of defective vision, just as his lack
that the child is at risk and more likely to be retarded of response to sounds is apt to lead to a mistaken impression
than others. These include prematurity, complications of of deafness. Infantile practices tend to persist beyond the
pregnancy or labour, a history of asphyxia neonatorum, intra normal period, e.g. putting objects into his mouth, excessive
or periventricular haemorrhage, jaundice in the newborn and prolonged posturing of his hands and fingers before his
period, convulsions or cyanotic attacks, maternal rubella eyes, drooling and slobbering. The physician must obviously
or a family history of learning disorder. The basis of the be familiar with the various developmental stages of normal
diagnosis of learning disorder may be conveniently discussed infants and children before he is in a position to make a
under four headings. judicious assessment of an individual patient. A brief outline
of the more positive developmental steps is shown in Table
Physical Abnormalities 18.5. The best assessment is to be expected from the doctor
Certain physical features are undoubted evidence of who has had long and intimate contact with normal children
associated mental defect. These include the characteristic in the child health clinic or in their family practice, provided
signs of Down syndrome, microcephaly, cretinism and that during their undergraduate period they have developed
gargoylism. Other physical abnormalities are often, although the capacity to observe, and to appreciate the significance of
not invariably, associated with learning disorder. In this their observations.
Diseases of Nervous System 395
Table 18.5: Developmental steps in the normal child 18 months Can walk upstairs holding onto hand or rail
4 weeks Head flops back when lifted from supine to sitting Can throw ball without falling
position Points to three or four parts of body on request
Sits with rounded back while supported Indicates need for toilet
Primitive grasp reflex elicited by placing object in palm Lifts and controls drinking cup
Responds to sudden noise Points to three to five objects or animals in picture book
8 weeks Minimal head lag when pulled into sitting position Runs safely on whole foot: Can avoid obstacles Can
Sits with almost straight back and head only nods kick a ball without losing balance
occasionally Can walk upstairs: Holding rail coming downstairs
Primitive grasp reflex slight or absent Turns door handles
Smiles readily: Vocalizes when talked to Demands constant adult attention
12 weeks Horizontally tracks objects with head and eyes 3 years Walks upstairs with alternating feet
No head lag when pulled into sitting position Washes and dries hands with supervision
Sits supported with straight back: Head almost steady Rides tricycle
No grasp reflex: Holds objects in hand for short time Draws a man on request head, trunk and one or two
Watches own hand movements other parts
Turns head towards sounds Can count up to ten
6 months Lifts head from pillow Discusses a picture
Sits unsupported when placed in position Listens to and demands stories
Rolls from supine to prone position Likes to help mother in house, father in garden
Grasps objects when offered Eats with fork and spoon
Transfers objects from one hand to the other Can dress and undress
Responds to name Asks incessant questions
Held standing, can bear weight on legs and bounces Climbs ladders and trees
up and down 4 years Engages in role play, e.g. doctor or nurse
No more hand regard: Finds feet interesting Uses proper sentences to describe recent experiences
12 months Understands simple sentences and commands Can give name, age and address
Can rise to sitting from supine position Draws man with features and extremities
Pulls to standing position by holding onto cot side Matches four primary colours correctly
Walks holding hand or furniture Plays with other children
Speaks a few recognisable words Alternately cooperative and aggressive with adults or
Points to objects which are desired other children
Throws objects out of pram in play 5 years Runs quickly on toes: Skips on alternate feet
15 months Walks unsteadily with feet wide apart; falls at corners Can tie shoelaces
Can get into standing position alone Can name common coins
Tries untidily to feed himself with spoon Draws recognisable complete man
Plays with cubes: Places one on top of another Names four primary colours; matches 10-12 colours
Indicates wet pants Cooperates more with friends: Accepts rules in games
Now seldom puts toys in mouth Protective towards younger children and pets
Shows curiosity and requires protection from dangers May know letters of alphabet and read simple words
Abnormal Behaviour and Gestures be excessively good in that he will lie in his bed for long
Learning disordered children frequently engage in types of periods without crying or showing restlessness, interest in
behaviour and mannerisms, which are obviously abnormal surroundings, or boredom. In other cases there is constant or
for their age. Thus, in early infancy the retarded baby may prolonged and apparently purposeless crying. Teeth grinding
396 Hutchison's Paediatrics
when awake is a common and distressing habit of many with by the break-up of his home, death of his mother, or who
profound learning disorders. The older child may exhaust has been otherwise bereft of normal security. The child may
his mother by his aimless overactivity, which may at times require a long period outside an institution in a comforting
endanger his life. Certain rhythmic movements, although and reassuring environment, before he can be assessed.
by no means confined to learning disordered children, are Until recently many autistic children were wrongly
more commonly present in them and for more prolonged labelled mentally defective. Autistic children have a varied
time periods. These include head banging, body-rocking to- profile ranging from superior intelligence to severe learning
and-fro, and head rolling. Profoundly disordered children disability. The most characteristic features of infantile autism
frequently lack the normal capacity for affection, they may are a complete lack of interest in personal relationships which
be prone to sudden rages, and they may assault other younger contrasts with an interest in inanimate objects; frequently a
children. preoccupation with parts of the body; a tendency to react
violently and unhappily to changes in environment; loss of
Convulsions speech or failure to acquire it, or the meaningless use of
Most epileptics are of normal intelligence. None the less, words or phrases and grossly abnormal mannerisms such
epileptic seizures occur more frequently among mentally as rocking, spinning or immobility (catatonia). The most
retarded children than those who are normal. Frequently outstanding feature of the autistic child is the way he rejects
repeated generalised seizures lead to slowly progressive social contacts. None the less, although he is aloof, does not
intellectual deterioration. The association of infantile spasms respond to a greeting with a smile, does not wave goodbye
(hypsarrhythmia) with severe learning difficulties has been and so forth, he is yet aware of social contact. Thus, he may
described previously. engage furiously in one of his more irritating mannerisms
when someone enters his presence and ceases whenever he
Differential Diagnosis is left alone. There is an odd high incidence of professional
and educated people among the parents of autistic children.
The diagnosis of learning disorder is obviously one in which Such children, of course, are wrongly placed in institutions
the physician must not be wrong or he will cause the parents for profound and severe learning disorders. Some have
unjustifiable and unnecessary grief and anxiety. Some responded considerably to psychotherapy as outpatients or
infants have a slow start but catch up later, and in the inpatients in departments of child psychiatry.
absence of manifested physical signs, such as microcephaly
or Downs syndrome, a firm diagnosis of learning disorder Intelligence Tests
should only be made after a period of observation during
Psychological testing and evaluations are of considerable
which the rate of development is assessed. There are now
although limited value in providing an estimate of a childs
available developmental screening protocols in which
probable potential ability. They cannot, naturally, take into
a childs development can be charted in a longitudinal
account the influence of such variables as zeal, ambition,
fashion, making it easier for the less experienced doctor
interest, encouragement or the lack of it, good or bad
to detect early departures from the normal. It is easy to teaching so forth. There are many aspects of intelligence
confuse learning disorder with cerebral palsy. Indeed the and personality and the various tests assess these in different
two frequently coexist. Careful neurological examination, degrees. It is not proposed here to describe these tests in
repeated on several occasions, will reveal the motor detail; they are reliable only in the hands of the expert. The
handicaps of cerebral palsy. The deaf child has frequently most commonly used are: the Gesell tests for infants and
been diagnosed as mentally retarded, sometimes with tragic the modifications of Cattell and Griffiths; for older children
results. This mistake should not occur when the physician the Stanford-Binet scale and the revised test of Terman and
takes a detailed history and follows it with a careful physical Merrill, also the Wechsler Intelligence Scale for Children;
examination. The deaf child will, of course, show a lively for adolescents and adults the Wechsler Adult Intelligence
visual interest and his motor skills will develop normally. A Scale and Ravens Progressive Matrices. There are also
difficult if not very common problem is the child who fails several useful personality tests of which the best for the
to develop speech (developmental dysphasia). He is readily mentally retarded are the Rorschach test and the Good
confused with the learning disordered child although here too enough Draw-a-Man test. In the case of the school child
a careful history and period of observation will reveal that it is also important to enquire about educational progress.
in other respects his psychomotor development is proceeding An evaluation of the results of various tests competently
normally. Particular caution is required in the intellectual performed is of great value in planning suitable education or
assessment of the child who has been emotionally deprived training for the mentally handicapped child.
Diseases of Nervous System 397
Investigations: Depending on the history and physical foetus can also be determined when there is a known sex-
examination the following investigations may be done. linked inherited disease in a family, and where the risk to
Thyroid function test, metabolic screening for inborn error male progeny is 50:50. While most of the X-linked disorders
of metabolism, cranial CT or MRI scan, EEG, karyotyping are not associated with learning disorder (e.g. haemophilia)
including examination for fragile-X syndrome, TORCH a few, such as Hunters syndrome do lead to progressive
infection screen, etc. mental deficiency.
Recent years have seen a rapid increase in the number
Specific Learning Disability of inborn errors of metabolism, which are capable of
Specific Learning Disability (SLD) is a disorder in one prenatal diagnosis. A considerable number of these are
or more of the basic psychological processes involved in associated with progressive neurological deterioration. Most
understanding or using language, spoken or written and are autosomal recessives although a few are X-linked. The
is not the result of visual, hearing or motor handicaps or laboratory techniques involved include enzyme assays on
mental retardation. There is a discrepancy between aptitude, cultured amniotic fluid cells, measurement of metabolites,
measured by intelligence tests and achievement, as reflected and biochemical analysis of the liquor.
in academic performance. The specific learning disability can Analysis of foetal blood obtained at fetoscopy has also been
be of reading (dyslexia), writing (dysgraphia) or mathematics applied in the prenatal diagnosis of the haemoglobinopathies.
(dyscalculia). Some children may have associated behavioural Molecular genetic techniques allow earlier diagnosis and
problems like attention deficit hyperactivity disorder. The intervention.
children with SLD require bypass strategies and concessions
When severe and irreversible disorders of the foetus are
based on the primary deficit. They learn to adapt well and
recognised prenatally therapeutic abortion may be considered.
most have a remarkable ability to learn, when provided
This is a complex problem with ethical, legal and religious
proper strategies.
implications. Occasionally, prenatal testing will reveal a
Prevention of Learning Disorders treatable disease, as when congenital adrenal hyperplasia due
to 21-hydroxylase deficiency is confirmed by a high level
The prevention of neurological disorder has become of 17-hydroxyprogesterone in the amniotic fluid, when no
increasingly possible in recent years. Indeed, the more delay should arise in instituting appropriate treatment from
efficient application of knowledge, which has been available the time of the infants birth. In practice it has been found
to us for some years, would considerably reduce the present
that in the majority of cases involving prenatal diagnosis the
incidence of brain damage from such disturbances as perinatal
extreme parental anxiety, which is common in this situation,
hypoxia, hypoglycaemia, kernicterus and hypernatraemia
is relieved because in most instances the foetus is found not
and the prevalence of maternal rubella by the institution of
to be carrying the chromosomal or enzyme abnormality.
anti-rubella vaccination. Screening programmes during the
Prenatal diagnosis demands careful selection of patients
neonatal period for several of the treatable inborn errors of
as the techniques are not entirely devoid of risk and there
metabolism such as phenylketonuria, homocystinuria, maple
can be no absolute guarantee of success. Not only must there
syrup urine disease, galactosaemia as well as congenital
be full discussion and investigation of the family problems,
hypothyroidism are making some impact upon the number of
but there must also be close liaison between the clinicians,
learning impaired children.
geneticists and the laboratories. This should preferably
A most common development in the field of prevention is
be undertaken before and not after the female partner has
to be found in prenatal diagnosis. This is most often based upon
become pregnant. Suitable indications for prenatal diagnosis
examination of the amniotic fluid obtained by transabdominal
amniocentesis between the 14th week and 16th week of include:
pregnancy and supported by ultrasonography. Sampling of Advancing maternal age, where the risk of chromosome
chorionic villi or foetal blood or tissue may also be employed abnormalities, particularly trisomy, is increased
in selected cases. Chromosome analysis of amniotic cell When either parent is a translocation carrier or has
cultures may reveal abnormalities such as trisomies 21, 13 chromosomal mosaicism with a high risk of an abnormal
and 18, or trisomy affecting the sex chromosomes (XXX foetus
and XXY). It may, on the other hand, lead to a diagnosis of When there has previously been a child with a
21/14 translocation in the foetus when one of the parents is chromosomal abnormality such as Downs syndrome
known to be a translocation carrier and other more complex In families with X-linked and certain autosomal recessive
translocations have also been demonstrated. The sex of the diseases.
398 Hutchison's Paediatrics
C H A P T E R
Accidental Poisoning
in Childhood 19
INTRODUCTION are exposed, the rank order became cardiotoxic drugs,
tricyclic antidepressants, sympathomimetic drugs, caustic
In spite of the many educational programmes aimed at soda and aspirin. While noxious plants such as laburnum,
prevention and exposure to a poison, it remains the most foxglove and deadly nightshade continue to be ingested, a
common childhood accident. Paediatric poisonings involve fatal outcome is exceedingly rare. Ingestions of petroleum
three distinct groups. Poisoning in children is quite different distillates, insecticides such as chlorinated hydrocarbons and
from that in adults. Children have their special physiology organic phosphates, and weed killers, particularly paraquat,
and react differently to medicament as well as to poisoning. are commoner in rural areas. Lead poisoning is in a different
Most childhood poisoning is accidental. Other causes include category as it usually involves ingestion over a fairly
intentional overdose, drug abuse, iatrogenic and deliberate prolonged period.
poisoning. The drugs most commonly involved in childhood The second distinct population involved in paediatric
poisoning are paracetamol, ibuprofen, orally ingested poisoning is the young 1217 years old adolescent who
creams, aspirin, iron preparations, cough medicines and the ingests medications in a suicide attempt or gesture. They
contraceptive pill. may require full psychiatric and social assessment. Also
The first group involves children between the ages of on the increase is glue sniffing, i.e. inhalation of various
1 and 4 years. Certain children with strong oral tendencies solvent vapours and ingestion of ecstasy and alcohol used
can be identified as especially likely to poison themselves by teenagers as recreational drugs.
by ingesting tablets or liquids, particularly if these have a The third group is the result of parents deliberately giving
pleasing colour or are held in an attractively labelled bottle drugs to their children as a manifestation of Munchausen
or container. Poisoning can also occur by absorption through syndrome by Proxy. The most common poison given by
the skin and infiltration of the eyes, i.e. ocular instillation. parents is table salt, anticonvulsants and opiates. In certain
Patterns of accidental poisoning have been changing in recent situations identifying poisoning can be difficult even when
years and while the number of children poisoned remains high, the doctor is alert to the possibility.
This chapter proposes to describe the general therapeutic
the incidence has shown a fall. There has also been a steady
measures applicable to acute poisoning and then to consider
decline in the number of childhood deaths from poisonings.
some of the more common individual poisonings. The
This is related to a number of factors including changes in
possibility of poisoning should always be entertained in
prescribing practices, educational programmes directed
acute illness of sudden onset if no cause is immediately
towards prevention, safer packaging of dangerous drugs and
discoverable, particularly if it is associated with vomiting
safe storage of household products. Child-resistant containers
and diarrhoea or if there are marked disturbances of
have been particularly effective in reducing the incidence of
consciousness or behaviour.
death from the ingestion of prescription drugs by children.
In a recent survey the rank order of poisons, drugs and
ASSESSMENT OF THE CHILD AND
chemicals, which have most often led to hospital admission,
MANAGEMENT
were: petroleum distillates; antihistamines; benzodiazepines;
bleach and detergents and aspirin. However, when the ratios The primary assessment of the child with acute poisoning
of fatalities to ingestion were analysed to give an index of is essential for management. This should be done under the
the practical danger of the substances to which children following acronym: ABCDE.
400 Hutchison's Paediatrics
Disability: Assessment of Neurological Function Table 19.1: Drugs and associated toxic effects
Exposure is essential for external evidence of drug abuse Convulsions Phenothiazines, aminophylline, salicylates,
tricyclic antidepressants, insecticides,
and drug induced rashes (e.g. purpura, swelling of lips or organophosphate
tongue, urticaria, angio-oedema). Record childs core and
Hyperpyrexia Salicylates, aminophylline, amphetamine,
toe temperatures, because a number of drugs can cause hypo- cocaine
or hyperthermia.
Hypothermia Aminophylline, barbiturates, phenothiazines
Key Learning Points Hypertension Aminophylline, amphetamines, cocaine
Base line monitoring in a child with poisoning Hypotension Tricyclic antidepressants, aminophylline,
ECG barbiturates, benzodiazepines, opiates, iron,
phenytoin
Pulse oximetry
Core temperature Large pupils Atropine, cannabis, carbamazepine, tricyclic
antidepressants
Blood glucose level
U and Es and LFTs Small pupils Opiates, phenothiazines, organophosphate,
insecticide
Blood gases.
Tachycardia Aminophylline, antidepressants, amphetamine,
cocaine
POISON IDENTIFICATION AND ASSESSMENT Bradycardia Tricyclic antidepressants, digoxin
OF THE SEVERITY OF OVERDOSE Metabolic Salicylates, ethanol, CO
acidosis
Subsequent to the primary assessment of the child, it is
important to evaluate the severity of the overdose. To assess Treatment
this properly, obtain the identity of the substance ingested, Most children will be asymptomatic because they have taken
the amount taken and the length of time the child has been in only a minute non-lethal overdose or have ingested a substance
contact with poison. Sometimes, it may not be easy to gather which is harmless. Therefore, a short period of observation
this vital information. in a short-stay ward or in an emergency department is often
However, some clues about the substance taken may all that is needed. It is better to be safe than sorry.
be obvious from the clinical signs noted during full clinical On the contrary, those children who have taken a
examination. An essential part of substance identification potentially lethal dose of a drug or the exact nature of the
is to match the collection of signs and associated substance is unknown, then measures to minimise blood
toxic effects and the offending substance as shown in concentration of the drug should be implemented. There
Table 19.1. is an urgent need to remove the poison or to inactivate or
neutralise it before it reaches the circulation. Now there is no
Key Learning Point
place for the use of emetics. The routine use of gastric lavage
Amount of poison ingested or activated charcoal is inappropriate.
Some idea of the maximum amount of substance that could
have been ingested can be obtained from counting the Emesis
number of remaining tablets or volume of liquid left in the
This was the routine approach for decades. There is no
bottle and details on packaging.
evidence from clinical studies that ipecac improves the
outcome of poisoned patients and thus its routine use should
Key Learning Points be abandoned.
Poison identification: Routine toxicology screen on urine
Gastric Lavage
sample.
Substances identifiable: benzodiazepines; cocaine Gastric lavage should not be carried out routinely in the
metabolites; methadone; opiates and amphetamines. treatment of poisoned patients. Gastric lavage should not
be considered unless a child has ingested a potentially life-
402 Hutchison's Paediatrics
threatening amount of a poison and the procedure can be Other Elimination Measures
undertaken within 60 minutes of ingestion. The lavage fluid
Urinary alkalinisation can be used to expedite the
can be water or isotonic saline. After lavage, the lavage
excretion of acidic drugs, e.g. salicylate, isoniazid and
tube can be used for administering the specific antidote or
phenobarbitone
activated charcoal. For those children who cannot protect
Haemoperfusion, haemofiltration and dialysis are
their airway, intubation under general anaesthesia will be
effective in certain poisonings (Box 19.5).
necessary. Fluid from the stomach should be collected for
analysis, if necessary. Box 19.5: Dialysis, haemoperfusion and haemofiltration are effective
in the following poisonings
Key Learning Point
Dialysis: Salicylate, methanol, ethylene glycol, vancomycin,
Gastric lavage isopropanol
Gastric lavage is contraindicated if a corrosive substance, e.g. Haemoperfusion: Carbamazepine, barbiturates, theophylline
Haemofiltration: Aminoglycoside, theophylline, iron, lithium
acid or alkali or volatile hydrocarbon, such as kerosene, lamp
oil, lighter fluid, turpentine, paint thinners, furniture polishes,
Whole Bowel Irrigation
and cleansing agents have been ingested.
Whole bowel irrigation (WBI) should not be used routinely
in the management of the poisoned patient. However, it
Medicinal Charcoal can be used to physically eliminate highly toxic substances
Activated charcoal is capable of binding a number of especially those not absorbed by activated charcoal and
poisonous substances without being systemically absorbed have a long gastrointestinal transit time, e.g. iron, sustained
(Box 19.3). However, there are substances which it will not release or enteric-coated preparations. This is done by giving
absorb (Box 19.4). The effectiveness of activated charcoal orally a large quantity of osmotically balanced polyethylene
decreases with time, the greatest benefit is within 1 hour of glycol electrolyte solution.
ingestion. Multidoses of activated charcoal to remove toxins
Antidotes
undergoing enterohepatic circulation are one of the simplest,
active elimination techniques. The charcoal can be given A wide range of antidotes exists as shown in Table 19.2.
via a nasogastric tube or lavage tube. The dose of activated Table 19.2: Poisons with antidotes
charcoal is 1 g/kg and repeated every 24 hours for the first
Indication Antidote
24 hours. The complications from charcoal are negligible.
Beta-blockers Glucagon
Box 19.3: List of poisons for which activated charcoal is effective Benzodiazepines Flumazenil
Acetaminophen Nicotine Barbiturates Carbon monoxide Oxygen
Amphetamine Paraquat Phenothiazines Chloroquine Diazepam in high doses
Atropine Phenols Benzodiazepines
Quinine Camphor Salicylates Digoxin Digoxin specific antibodies
Digitalis derivatives Strychnine Sulphonamides Hypoglycaemic agents Glucose
Indomethacin Theophylline Tricyclic
Iron salts Desferrioxamine
N-acetylcysteine antidepressants
Isoniazid Vitamin B6
Box 19.4: Substances not bound to charcoal Lead Calcium EDTA, BAL
Methanol Ethanol
Boric acid Lithium
Cyanide Malathion Methaemoglobin producing Methylene blue
Ethanol Methanol agents
Ethylene glycol Petroleum distillates Morphine derivatives (opiates) Naloxone
Iron Strong acids and alkalis
Organophosphates Atropine
(maximum 20 mg) should be given by slow intravenous centre so that the overbreathing of the poisoned child is often
injection into a large vein. Benzodiazepines should not be extreme. A side effect of salicylate overdosage is fever.
given by the intramuscular route for convulsions. If the There is also a disturbance of carbohydrate metabolism and
intravenous route is not readily available, diazepam can be the blood glucose may rise above 11.1 mmol/L (200 mg/100
administered as a rectal solution. Midazolam can be given by ml) although not above 16.7 mmol/L (300 mg/100 ml).
the buccal route. Hypoglycaemia has been recorded but it is uncommon.
The child with salicylate poisoning shows peripheral
Salicylate poisoning vasodilatation until near to death. Death is preceded by
cyanosis, twitching, rigidity and coma.
Accidental poisoning in children due to salicylate has recently
declined in incidence following the packaging of salicylates Case Study
in child resistant containers and also because aspirin is being A 12-year-old boy presented with severe icthyosis. He was treated
superseded by paracetamol and ibuprofen as the standard with topical 2% salicylic acid in simple cream applied to the whole
domestic analgesic. Salicylate is usually ingested in the body twice daily. The salicylate concentration was increased
form of aspirin (acetylsalicylate). This is often accidental to 5% on day 3 of treatment and 10% on day 5. On day 8 he
but sometimes it has been given with therapeutic intent by developed symptoms of salicylate toxicity. His blood salicylate
the parents and even by the doctor. On occasion, oil of level was 3.3 mmol/L. Topical salicylate treatment was stopped.
wintergreen (methylsalicylate) a source of the salicylate, Intravenous fluids and bicarbonate were given and complete
has been swallowed, one teaspoonful of which contains clinical and biochemical recovery was achieved after 2 days.
the equivalent of 4 gm aspirin. Salicylate poisoning can This case illustrates that significant percutaneous salicylate
also occur due to local application of ointments containing absorption can occur especially when salicylate preparations of
salicylic acid. increasing strength are used.
Prognosis in the individual case is determined much
Diagnosis: Salicylate poisoning in dermatological treatment.
more by the interval of time, which has elapsed between the
ingestion of the poison and the start of treatment than, by the Treatment
level of the serum salicylate. Indeed, the toddler can show
signs of severe poisoning with a salicylate level as low as The immediate treatment is gastric emptying. So gastric
2.9 mol/L (40 mg/100 ml). With the exception of rheumatic lavage can be undertaken up to 4 hours after ingestion. Also
fever, juvenile idiopathic arthritis (JIA) and Kawasaki disease, activated charcoal should be given to those patients who have
aspirin should not be prescribed for infants or children. ingested sustained release salicylate preparations.
On arrival at hospital blood is taken for estimation of the
Clinical Features plasma salicylate level, electrolytes, renal function, blood
glucose, clotting profile and acid base status. However,
Rapid, deep, regular, acyanotic breathing or air hunger
repeated salicylate measurements are necessary and reliance
is almost diagnostic of salicylate poisoning. Cases may
should not be placed on a single salicylate level. The salicylate
be misdiagnosed as pneumonia but the hyperpnoea of
levels will usually rise over the first 6 hours if enteric-coated
salicylate poisoning is quite different from the short, grunting
preparation is ingested.
respirations of pneumonia. Other early manifestations of
Urinary alkalinisation enhances excretion of sali
salicylate poisoning such as nausea and vomiting are difficult
cylates, sodium bicarbonate should be infused over
to evaluate in infants and toddlers and they cannot often
4 hours. Patients with unresponsive acidosis, convulsions,
describe tinnitus.
coma, renal failure or continuing deterioration should
The hyperpnoea has a double aetiology. It is initially due
be considered for haemodialysis. Haemoperfusion is not
to direct stimulation by salicylate of the respiratory centre of
recommended. Forced diuresis is no longer used.
the brain. The resultant overbreathing washes out CO2 from
the lungs and causes a respiratory alkalosis with a blood pH
Paracetamol Poisoning
(> 7.42) and lowered PCO2 (< 33 mmHg). This alkalotic
phase is commonly seen in adults with salicylate poisoning, but While paracetamol accounts for a large number of attempted
in young children, an accelerated fatty-acid catabolism with suicides in adults (either alone or in combination with
excess production of ketones results in the early establishment dextroproxyphene as Co-proxamol, cases of serious
of a metabolic acidosis. By the time the poisoned toddler poisoning are rare in children. Paediatric paracetamol
reaches hospital the blood pH is usually reduced (< 7.35). elixir preparations ingested by the toddler very rarely cause
The compensatory hyperventilation of metabolic acidosis toxicity. Nonetheless, as it can lead to irreversible liver and
adds to the stimulant effect of salicylate on the respiratory renal failure, any child who may have ingested in excess
404 Hutchison's Paediatrics
of 150 mg/kg should be admitted to hospital without delay. has been ingested over several hours (staggered overdose).
However, children are more resistant to paracetamol-induced However, if there is doubt about timing or the need for
hepatotoxicity than adults. Doses of less than 150 mg/kg will treatment then the child should be treated with acetylcysteine.
not cause toxicity except in a child with hepatic or renal
disease. IBUPROFEN
Overdosage with ibuprofen may cause nausea, vomiting,
Clinical Features epigastric pain and tinnitus, but more serious toxicity is very
The first symptoms are nausea, vomiting and abdominal uncommon. Activated charcoal followed by symptomatic
pain. Evidence of severe liver damage may be revealed by measures are indicated if more than 400 mg/kg has been
elevated levels of aspartate aminotransferase (AST) and ingested within the preceding hour.
alanine aminotransferase (ALT) over 1,000 IU/L and of
renal impairment by a plasma creatinine concentration over Acute iron poisoning
300 mmol/L (3.4 mg/100 ml). Liver damage is maximal Iron poisoning is most common in childhood and is usually
34 days after ingestion and may lead to encephalopathy, accidental. The most common source of acute iron poisoning
haemorrhage, hypoglycaemia, cerebral oedema and death. is ferrous sulphate tablets, which the young child mistakes
for sweets. Other ferrous salts such as gluconate or succinate
Treatment
are less dangerous. If over 20 mg/kg of elemental iron has
Correct treatment of paracetamol poisoning includes oral been taken, toxicity is likely. Over 150 mg/kg may be fatal.
activated charcoal and a paracetamol blood level to be
taken 4 hours following ingestion. Plasma concentrations Clinical Features
measured in less than 4 hours cannot be interpreted. Specific
The symptoms are vomiting, diarrhoea, haematemesis,
treatment is with intravenous infusion of N-acetylcysteine.
melaena, pallor and metabolic acidosis. Hypotension, coma
It is most effective if given within 8 hours of ingestion,
and hepatocellular necrosis occur later. Coma and shock
after which effectiveness declines. Nomogram shows the
indicate severe poisoning.
level of blood paracetamol at which acetylcysteine should
be given intravenously (Fig. 19.1). Those whose plasma- Case Study
paracetamol concentration is above the normal treatment line
A 2-year-old Asian boy was found with an empty bottle of
are treated with acetylcysteine by intravenous infusion (or,
ferrous sulphate tablets (ferrous sulphate 200 mg containing
if acetylcysteine is not available, with methionine by mouth,
65 mg of ferrous iron). His mouth was full of crushed pieces of
provided the overdose has been taken within 1012 hours
tablets. His mother took him to a nearby paediatric A and E unit.
and the child is not vomiting). If the treatment was started
On examination he had a temperature of 98.4C, pulse 120/min,
within 8 hours of ingesting the overdose, the risk of liver
respiratory rate 40/min and blood pressure 90/55 mmHg. He was
or renal damage is insignificant. Also plasma-paracetamol
drowsy; otherwise clinical examination was unremarkable. Hb
concentration may be difficult to interpret when paracetamol
12.6 g/dl, WBC and platelet count normal, U and Es and LFTs
normal, HCO3 16 mmol/L and serum iron 60 mol/L.
He was gastric lavaged with normal saline. He was treated
with desferrioxamine 15 mg/kg per hour intravenously for 24
hours. He did not develop any complications and recovered
unscathed. He was discharged home, well, 2 days later.
Treatment
On arrival in hospital gastric lavage should be performed
with 1% solution of sodium bicarbonate. Activated
charcoal is not helpful. X-ray of the abdomen may
help substantiate the number of tablets ingested and a
repeat X-ray will demonstrate whether or not gastric
emptying has been complete. If large quantities have been
consumed, WBI should be considered.
The serum iron concentration is measured as an emergency
Fig. 19.1: Nomogram for use in paracetamol ingestion and intravenous desferrioxamine is given to chelate absorbed
Accidental Poisoning in Childhood 405
iron in excess of the expected iron binding capacity. In dangerous toxic effects in a young child is not sufficiently
severe toxicity, intravenous desferrioxamine should be stressed to the parents.
given immediately without waiting for the serum iron level.
Desferrioxamine has been demonstrated to be safe. If severe Clinical Features
impairment of renal function develops, haemodialysis should Mildly affected children develop drowsiness, ataxia,
be considered. abnormal postures, agitation when stimulated, dilated pupils
and tachycardia. Thirst and nystagmus have been present in
BARBITURATE POISONING some cases. In severely affected children convulsions may be
Barbiturates are now much more commonly prescribed and followed by coma and severe respiratory depression. Cardiac
are rarely encountered as a cause of poisoning in children. arrhythmias such as ventricular tachycardia and various
degrees of heart block with profound hypotension in children
Clinical Features are prominent and dangerous.
In most cases the child is only extremely drowsy. Infrequently, Treatment
the child may be flushed, excited, restless and may vomit. In
severe cases the child is comatose, unresponsive to stimuli As there is no known antidote, the management of poisoning
and may show respiratory depression with cyanosis, absence with the tricyclics is mainly symptomatic. Activated charcoal
of deep reflexes and circulatory failure with hypotension. should be administered within 1 hour of the overdose, as it
Skin blisters mainly over bony prominences, peripheral reduces absorption of the drug. In addition, alkalinisation up
nerve pressure lesions may develop. to an arterial pH of at least 7.5 has been shown to reduce
cardiac toxicity. This can be achieved by hyperventilation
Treatment and by infusing sodium bicarbonate in a dose of 1 mmol/kg.
The cardiac rhythm should be continuously monitored by
For those who have ingested more than 25 mg/kg within
electrocardiography. If cardiac arrhythmias develop they can
1 hour give activated charcoal 1 g/kg by mouth or via
be treated with antiarrhythmic measures. Life-threatening
nasogastric tube. Forced diuresis is ineffective and potentially
arrhythmias may respond to cardioversion. Intravenous
dangerous. Haemodialysis is of no value.
lorazepam or diazepam (preferably in emulsion form) may
be required to treat convulsions.
Poisoning by antihistamines
The common prescribing of antihistamines of many kinds Atropine Poisoning
has, unfortunately, increased the opportunity for young
This type of poisoning may arise from ingestion of the plant
children to ingest them accidentally. There is sometimes a
deadly nightshade. It may also occur when drugs such
fairly long period between ingestion and the appearance of
as tincture of belladonna, atropine or hyoscine are taken
symptoms. These include anorexia, progressive drowsiness,
accidentally or prescribed in excessive doses. Antidiarrhoeal
stupor and signs such as incoordinated movements, rigidity
agent Lomotil that contains diphenoxylate and atropine is
and tremor. Poisoning by two of the newer non-sedating
toxic to some children at therapeutic dosage.
antihistamines, terfenadine and astemizole may predispose to
the development of ventricular tachyarrhythmias. Clinical Features
Treatment The onset of symptoms is soon after ingestion, with thirst,
dryness of mouth, blurring of vision and photophobia.
Activated charcoal should be considered up to 4 hours post-
The child is markedly flushed with widely dilated pupils.
ingestion, as gut motility is impaired. Treatment is otherwise
Tachycardia is severe and there may be high fever. Extreme
largely supportive.
restlessness, confusion, delirium and incoordination
are characteristic. In babies there may be gross gaseous
Poisoning by tricyclic AND RELATED abdominal distension. In fatal cases circulatory collapse and
antidepressants respiratory failure precede death.
The frequent use of antidepressants for adults has resulted in
a rapidly increasing incidence of their accidental ingestion Treatment
by children. Moreover, these drugs are prescribed for This can only be symptomatic and supportive. Gastric lavage
enuresis in children and the fact that overdosage can produce followed by the instillation of activated charcoal is effective.
406 Hutchison's Paediatrics
throat and gastrointestinal tract may occur. The absence of Flumazenil and intravenous naloxone have been tried
initial symptoms does not exclude a diagnosis of paraquat to antagonise the depressant effects of ethanol overdose.
poisoning. Haemodialysis has been used to treat patients with a high
When low to moderate doses of paraquat have been blood alcohol level (> 300 mg/dl).
ingested the signs of kidney and liver damage may occur after
23 days. Both types of damage are irreversible. After 510 LEAD POISONING
days, or very occasionally up to 14 days after poisoning, the
Lead is usually ingested in small quantities over a long period
child may develop signs of lung damage, which is almost
and the manifestations of poisoning develop insidiously.
always irreversible. When relatively large doses of paraquat
There are various possible sources of lead such as lead-
are ingested, multiorgan damage and failure occurs quickly
containing paint which may be used on a childs cot, flakes or
and death usually occurs within a few hours or days. Tissue
damage is probably caused by local hydrogen peroxide paint from plasterwork or woodwork in old Victorian houses,
and this might be aggravated by giving oxygen to breathe. burnt out lead batteries or swallowed pieces of yellow crayon
Paraquat absorption can be confirmed by a simple qualitative and lead water pipes. Pica is common in children suffering
urine test. from lead poisoning and is a valuable clue to the diagnosis. It
The single most useful measure is oral administration of is more common in children from the poorest homes. Asian
activated charcoal. Gastric lavage is of doubtful value. mothers, mainly for cosmetic reasons, apply Surma, which
contains lead sulphide, to the eyelids and conjunctivae of
ACUTE ALCOHOL POISONING infants and children. It seems that an appreciable absorption
of lead in these children occurs from drainage down the tear
Episodes of acute alcohol (Ethanol) poisoning occur duct or from rubbing the eyes and then licking the fingers.
predominantly in infancy and preadolescence with peaks at Other sources of environmental lead contamination are the
ages 3 and 12 years and are commoner in boys. In the younger gasoline exhaust fumes of motorcars and lead in soil. An
age group, ease of access to spirits and fortified wines allied early diagnosis is extremely important in lead poisoning
with poor parental surveillance in the home are important because, if it is left untreated, lead encephalopathy may
factors. Household ethanol sources include perfumes, result in death or permanent brain damage. Lead poisoning
colognes, aftershaves, mouthwashes and antiseptics. In the is now defined as a blood lead level equal to or greater than
older children the episodes are more likely to occur outside 10 mg/dl (0.50 mmol/L).
the home, thus increasing the risks of physical danger from
accidents and hypothermia. The younger infants are at risk Clinical Features
of significant hypoglycaemia especially if they drink alcohol
The earliest signs such as lethargy, anorexia, vomiting and
in the early morning after an obligate overnight fasting. The
abdominal pain are too common to arouse suspicion in them,
lethal dose of ethanol in children is only 3 g/kg, compared
but their persistence without other discoverable cause should
with the adult lethal dose of 58 g/kg.
do so. The pallor of anaemia is a frequent and characteristic
Clinical Features sign. Insomnia and headache frequently precede the onset of
lead encephalopathy with convulsions, papilloedema and a
Nausea, accompanied by vomiting, ataxia and progressive cracked-pot sound on percussion of the skull. Radiographs of
loss of consciousness are the usual features. Aspiration the skull may then reveal separation of the sutures. Peripheral
pneumonia, hypoxic and alcoholic brain damage with cerebral neuropathy is uncommon in the young child but may develop
oedema, hypothermia, hypoglycaemia and convulsions are
with paralysis of the dorsiflexors of either the wrist or foot.
not uncommon complications.
Radiographs of the bones may show characteristic bands of
Diagnosis increased density at the metaphyses (Fig. 19.2.) but this is
a relatively late sign and, therefore, of limited diagnostic
This is based predominantly on history and on the finding of value. Excess aminoaciduria is a common manifestation
an elevated blood alcohol concentration. The blood glucose of renal tubular damage and glycosuria may also occur.
concentrations must be measured. Renal hypertension has also been reported. Elevated blood
lead levels are also associated with neurodevelopmental
Treatment
abnormalities, behavioural disturbances, learning disabilities,
Activated charcoal does not prevent absorption and is not and defects in fine and gross motor development.
indicated. Because ethanol is rapidly absorbed from the The most dangerous development, both in regard to life
stomach, performing gastric lavage is unlikely to be of benefit. and future mental health, is lead encephalopathy. Depending
408 Hutchison's Paediatrics
A
A B
Figs 19.3A and B: Oesophageal stricture: Barium swallow showing
short smooth stricture secondary to caustic ingestion
Treatment
All children with caustic ingestion should be admitted for
observation of at least 24 hours. The outcome for most
children following corrosive ingestion is good. Attempts
at neutralisation of corrosives or gastric decontamination
should be avoided.
Persistence of drooling and dysphagia after 1224 hours
of ingestion are indications of oesophageal scar formation
and warrants upper gastrointestinal endoscopy (Figs 19.3A
and B). It seems that steroid treatment does not minimise
the formation of scar tissue and stricture. Children with B
oesophageal stricture usually respond to repeated dilatations Figs 19.4A and B: X-ray of abdomen showing disintegrating battery
but some require oesophageal replacement surgery.
object and a careful watch kept on the stools until the foreign
body is recovered.
SWALLOWED FOREIGN BODIES
Disc batteries (button batteries) are often ingested in
Foreign body ingestion is common in children because young children these days due to their widespread use in
they have a tendency to explore and to taste new objects electrical products in the home. These batteries contain
and, thus, they swallow bizarre and multiple objects. Most alkalies in sufficient concentration to cause caustic injuries
foreign bodies swallowed pass through the alimentary tract and mercury in sufficient quantities to create problems.
without symptoms. However, if the foreign body is lodged in However, the highly toxic mercuric oxide is converted
the oesophagus, it should be removed immediately through to essentially nontoxic elemental mercury on leakage or
an endoscope to avoid serious complications of oesophageal complete disintegration of the battery (Figs 19.4A and B).
obstruction, asphyxia or mediastinitis. In the absence of In addition, mercuric oxide is poorly soluble and not well
symptoms, the management simply consists of an X-ray absorbed and this may account for the very low incidence
of the abdomen to confirm the presence of a radio-opaque of mercury poisoning and, therefore, children may not need
410 Hutchison's Paediatrics
measures at the earliest possible opportunity. Oxygen at the only after all prognostic indicators have been considered
highest concentration available should be provided as soon (Box 19.7).
as possible.
Box 19.7: Prognostic markers in children with drowning
A deep body temperature reading (rectal or oesophageal)
should be obtained as soon as possible. External rewarming Submerged in water for more than 38 minutes
is usually sufficient if core temperature is above 32C but No gasp after 40 minutes of full CPR
Persisting coma
active core rewarming should be implemented if the core Arterial blood pH less than 7.0 despite treatment
temperature is less than 32C. Arterial blood PO2 less than 60 mmHg despite treatment
Resuscitation should not be abandoned until core
temperature is at least 32C or cannot be raised despite active There is no evidence that osmolality specific (salt versus
measures. The decision to stop resuscitation should be taken fresh water) drowning affects the probability of survival.
Peter Galloway, Rajeev Srivastava, Krishna M Goel
C H A P T E R
Metabolic Diseases 20
INBORN ERRORS OF METABOLISM The chains are held together by purine and pyrimidine
bases, which are at right angles to the axis of the molecule.
There has been a remarkable increase in our knowledge of There are four such nitrogen bases in the DNA molecule
the inborn metabolic errors in recent years, largely brought adenine (a purine), thymine (a pyrimidine), guanine (a
about by the introduction of new biochemical techniques. The purine) and cytosine (a pyrimidine). The genetic function
term "inborn errors of metabolism (IEM)" was first used by is coded, as it were, by the particular sequence of these
Garrod in 1908 when he described albinism, alkaptonuria, alternating pairs of purine and pyrimidine bases along the
cystinuria and pentosuria. Garrod, noting the frequency length of the DNA molecule. The activity of the DNA
of consanguineous matings in the pedigrees of his patients, molecules on the chromosomes transmits information to the
correctly inferred the genetic origin of these disorders. He went molecules of ribonucleic acid (RNA) within the cell nucleus.
further and suggested that they arose through the medium of There are also four nitrogen bases in the RNA molecule
defective enzyme activities. At the present time there are over adenine, guanine, cytosine and uracil (instead of thymine
1,500 known recessive and X-linked human genetic diseases, as in DNA). The RNA or "messenger" molecules then
all of which can be expected to have an underlying specific diffuse out into the cytoplasm and pick up individual amino
inherited metabolic disorder. So far in only about 200 is the acids which come together to form polypeptide chains and
precise enzyme defect known, although the chromosomal proteins on the ribosomes. The sequence of bases along the
location of more than 700 of these genes is now known. RNA molecule is the code, which determines the order of
In this book, it would clearly be impracticable to consider incorporation of amino acids into the particular polypeptide
the whole subject. Instead, an attempt has been made to chains. A mutation, therefore, consists of an alteration in the
portray a broad outline through three sections: (1) common sequence of bases in the DNA molecule and consequently in
aetiological principles, (2) clinical approach to diagnosis
the RNA molecule. This usually results in the substitution
and then (3) a variety of common specific conditions are
of one amino acid for another in the polypeptide chain.
covered in more detail. Some others are considered in other
For example, the haemoglobin in sickle-cell anaemia (HbS)
chapters under the various systems of the body.
differs from normal haemoglobin (HbA) only in that valine
occupies the position in the haemoglobin peptide sequence
COMMON AETIOLOGICAL PRINCIPLES
normally occupied by glutamic acid.
Our genes act through the control of complex intracellular In the case of a defective enzyme system, a single amino
biochemical reactions. The concept of "one gene-one acid substitution at the active centre of the protein could
enzyme" is now firmly established. Thus, an abnormal or profoundly alter the kinetics of the catalytic process and
defective enzyme activity must be related to an abnormal or so result in loss of activity. The same effect could occur in
mutant gene. Our understanding of the nature of gene activity peptides and protein macromolecules other than haemoglobin
was greatly furthered by the work of Watson and Crick and enzymes, and the IEM should now be taken to include all
when they described the structure of the deoxyribonucleic the specific molecular abnormalities, which are genetically
acid (DNA) molecule. A gene is composed of DNA and determined. They can, for clinical purposes, be divided into
the structure of the DNA molecule determines the specific four types:
function of the gene. This structure consists of two helical 1. Disturbances in structure of protein molecules, e.g. the
chains of phosphate-sugar each coiled round the same axis. haemoglobinopathies
414 Hutchison's Paediatrics
2. Disturbances in synthesis of protein molecules, e.g. substitution of one amino acid for another in the polypeptide
haemophilia, Christmas disease, congenital afibrino- chainas in the abnormal haemoglobins (haemoglobins
genaemia, congenital hypogammaglobulinaemia, and M). On the other hand, if this single base change is to
Wilson's disease (where caeruloplasmin is deficient) involve one of the "nonsense triplets" which code for chain
3. Disturbances in function of protein molecules, e.g. termination the result would be the synthesis of a greatly
enzyme deficiencies like phenylketonuria (PKU), gala- shortened polypeptide chain which would fail to add up to a
ctosaemia, adrenocortical hyperplasia and many others viable and functional form of protein. The effect could be a
4. Disturbances in transport mechanisms, e.g. Hartnup disease, complete failure to synthesise the specific enzyme protein or,
cystinuria, nephrogenic diabetes insipidus, renal glycosuria, alternatively, a severe reduction in the rate of its synthesis
de Toni-Fanconi syndrome, vitamin D resistant rickets. so that very little is actually present at any one time. In other
In 1961, the first success was achieved in "breaking the rare instances complete failure to form the enzyme may arise
code" which the sequences of base pairs in the DNA and from a deletion of parts of the DNA sequence of the gene
RNA molecules represent. Each amino acid is specified by a rather than from a single base change.
set of three bases out of the possible four nitrogen bases in The basis of many of the IEM is highly complex. There
the DNA and RNA molecules. This is a triplet code, which are certain other factors concerned with the activity of any
gives 43 = 64 different possibilities, and each base triplet has enzyme. This activity is determined by the amino acid
been called a "codon". Some examples of the code in relation sequence which dictates its three-dimensional molecular
to the RNA molecule are as follows: structure. But the quantity of enzyme present is clearly
Phenylalanine = Uracil-Uracil-Uracil important and dependent on the relative synthetic versus
Methionine = Uracil-Guanine-Uracil catabolic ratio in the cell. Enzyme activity is further
Tryptophan = Uracil-Guanine-Guanine influenced by the presence of particular activators, inhibitors,
Leucine = Uracil-Uracil-Adenine co-enzymes, etc. It will become clear in the accounts of
A mutation usually involves the addition or deletion some of the individual inborn errors which follow, that these
of a single base. As this may occur at random anywhere factors may sometimes explain the variations, which are now
along the base pair sequence, it follows that many different being demonstrated within diseases previously thought to be
(alternative) genes (or alleles) may be generated by different more or less uniform in their manifestations.
mutations in any given gene. For example, in a typical gene Diagnosis depends on both, the clinician having a high
with 900 nitrogen bases coding a polypeptide chain of 300 index of suspicion and the appropriate test(s) being carried
amino acids as many as 2,700 different alleles might arise out. The local laboratory has a key role to play by guiding
from different mutations, each causing the replacement of a these investigations. In certain situations, appropriate
single base. Such a great variety of different mutant alleles preliminary "screening" tests are carried out first; in others,
are not merely theoretical. Over 300 variants of haemoglobin specific analyte measurements are the first line investigation.
A have now been identified, the great majority differing Many of the more specialised tests (i.e. specific enzymes)
from HbA by only a single amino acid substitution, although will only be required later to confirm a diagnosis.
only a few are associated with overt disease. In the same
way, an enzyme protein can be altered in many ways by TREATABLE DISORDERS
different mutant alleles, although when they result in the loss
There is an increasing array of specific therapy for different
of enzyme activity they will all have similar metabolic and
metabolic disorders. Unfortunately, a number of these are
clinical consequences.
very expensive (up to $400K per annum). This limits their
As the triplet code from four bases gives 64 different
potential use throughout the world and even in Europe
possibilities it follows that any one of the 20 amino acids
their role is restricted. Some treatments are, however, very
must be able to be coded for by more than one base triplet
inexpensive, e.g. pyridoxine for pyridoxine responsive
or codon. It would appear that of the 64 possible triplet
seizures.
sequences 61 each specify one out of the 20 amino acids, and
that most amino acids are coded by two or more different
Why Investigate Further?
base triplets. The remaining 3, sometimes called "nonsense
triplets" do not code for any amino acid. They are concerned Even where a disease is untreatable, confirming the specific
with chain termination, i.e. they define the point in the diagnosis often to DNA mutation level, allows prenatal
synthesis of the polypeptide at which the end of the chain testing of future pregnancies. In certain cultures, this may
is reached. In the majority of mutations involving a single not be acceptable, but the more specific the diagnosis the
base change, the base triplet (or codon) for one amino acid better the risk of future pregnancies can be explained to the
is replaced by the base triplet for another resulting in the parents of an affected child.
Metabolic Diseases 415
CLINICAL APPROACH TO DIAGNOSIS latter group may be classified into predominant neurological,
hepatological or dysmorphological presentations.
Many classifications of IEM were based around a specific
metabolite or cellular organelle. An example of the former is Neurological Presentations
disorders of fructose metabolism: (a) essential fructosuriaa Irrespective of the aetiopathogenesis, the neonate has a
benign problem where the proximal convoluted tubule fails limited repertoire of signs. Thus, poor feeding, vomiting,
to re-absorb fructose resulting in urine testing positive temperature instability, apnoea and progressive decline in
for reducing substances, but glucostix negative (which responsiveness, while strong pointers towards a metabolic
uses a specific glucose oxidase method), (b) fructose disorder, are also all features of more common conditions,
1,6-bisphosphataserapid onset of hypoglycaemia from e.g. an underlying infection. Specific clues to a metabolic
failure of gluconeogenesis, 23 hours after feeding associated disorder would include abnormal smell [e.g. MSUD,
with gross lactic acidaemia and (c) hereditary fructose isovaleric aciduria (IVA)], previous sibling death or failure
intolerancesevere liver failure may result following to thrive, or consanguineous marriage.
ingestion of fructose. An example of organelle disorders Neurological presentation can be further subdivided into
is lysosomal disorders: (a) I-cell diseasepresenting with three: (1) early onset seizures, (2) encephalopathy without
hydrops fetalis or early onset dysostosis multiplex, (b) acidosis and (3) encephalopathy with acidosis. For most
glycogen storage disease (GSD) type II (Pompes disease) IEM, seizures are a late aspect following progressive signs
presenting with cardiac failure or (c) mucopolysaccharidosis of encephalopathy.
(MPS) type IV (Morquio disease)presenting with course
features and short stature. Clinically this approach is limited. Seizures
A more useful clinical approach has been developed, in
which disorders are classified according to common clinical Seizures associated with IEM are intractable and respond
presentation or specific signs, e.g. cherry-red spot on the poorly to conventional anti-epileptic therapy. If occurring
macula. There are four groups of clinical scenarios where a in the first 4 days of life, they point towards a small group
metabolic disorder should be considered: of specific but unrelated disorders, the four commonest
1. Acute neonatal presentation, e.g. maple syrup urine being: (1) pyridoxine responsive seizures, (2) non-ketotic
disease (MSUD) hyperglycinaemia, (3) molybdenum co-factor deficiency and
2. Late onset acute and recurrent attacks of symptoms such (4) peroxisomal disorders. A trial of treatment with pyridoxine
as ataxia, vomiting or acidosis, e.g. female with ornithine is, therefore, appropriate along with consideration of other
transcarbamylase deficiency rarer treatable disorderscongenital magnesium deficiency,
3. Chronic and progressive generalised symptomsusually folinic acid responsive seizure and biotin responsive seizures.
gastrointestinal (chronic vomiting, failure to thrive);
muscular or neurological deterioration, e.g. Refsum
Encephalopathy without Acidosis
disease with ataxia and progressive night blindness Maple syrup urine disease and urea cycle disorders are
4. Specific and permanent organ presentations suggestive of the important disorders included in this group. The clue
an IEM, e.g. cataract in galactokinase deficiency. to the latter is early development of respiratory alkalosis
Approximately 2% of all newborns have an IEM. Within though this may disappear with the onset of severe illness.
this group, the autosomal dominant conditions usually Aggressive intervention to lower leucine and ammonia
present in adulthood and are the most common, e.g. familial concentrations, respectively, may be sufficient to prevent
hypercholesterolemia (~1 in 500). In X-linked conditions, death but varying degrees of permanent neurological deficit
where there is no male to male transmission within a family, is often unavoidable. Definitive diagnosis, however, allows
females were considered only carriers; increasingly they are close monitoring of future siblings in early post-natal life
noted to have variable features dependent upon lyonisation and where prospective support can lead to a very good clinical
the specific organs which have the defective X-chromosome outcome.
active. However, the vast majority of conditions are
autosomal recessive and present before puberty. Encephalopathy with Acidosis
Inborn errors of metabolism most commonly present Three major disorders can present within the first 2
in the neonatal period in full-term and initially apparently weeks with very negative base excess. The three enzyme
healthy neonates. This is the group that is further described deficiencies: (1) holocarboxylase, (2) propionyl CoA
in greater detail. carboxylase and (3) methylmalonyl CoA mutaseare
In neonates, IEM either present with a specific organ differentiated by urine organic acid analysis. Treatment with
affected, e.g. cataract, or as a generalised disorder. The N-carbamyl glutamate (to reduce hyperammonaemia), biotin,
416 Hutchison's Paediatrics
bicarbonate and dietary protein restriction is associated with If the child dies it is important to have obtained urine,
clinical improvement. The other group of conditions such plasma, white blood cell DNA, fibroblast (for culture), and
as mitochondrial and pyruvate disorders involve hyperlactic muscle and liver biopsies (stored deep-frozen). Subsequent
acidaemia, but are untreatable. analyses may help determine the nature of the metabolic
defect and allow diagnostic and genetic counselling to be
Hepatological Presentation provided to the family.
This group can also be subdivided into three: (1) jaundice,
(2) hypoglycaemia and (3) gross liver dysfunction. SPECIFIC COMMON DISORDERS
Pathogenesis
In normal individuals phenylalanine, which is an essential
amino acid, is converted in the liver to tyrosine by the activity
of phenylalanine hydroxylase. The gene for phenylalanine
hydroxylase is located on chromosome 12 and contains 13
exons. A high proportion of affected subjects are compound
heterozygotes rather than homozygotes. In consequence
the blood phenylalanine increases and is converted by
phenylalanine transaminase to phenylpyruvic acid and other
degradation products such as phenyllactic acid, phenylacetic
acid and ortho-hydroxyphenylacetic acid. The precise Fig. 20.1: Untreated phenylketonuria
chemical cause for the inevitable mental retardation in
"classical" PKU is not known, but is probably related to the and treatment is with tetrahydrobiopterin, L-DOPA and
high phenylalanine concentration and to deficiencies of the L-5-hydroxytryptophan and a peripheral decarboxylase
neurotransmitters noradrenaline, adrenaline and dopamine. inhibitor. There is a blood spot-screening test available for
The fair hair and blue eyes are due to the deficient availability total blood biopterin and this should be performed in all
of melanin, which is synthesised like the neurotransmitters hyperphenylalaninaemic children.
from tyrosine (Fig. 20.1).
While various sub-classifications such as mild PKU Clinical Features
have been described, many western countries now screen for
PKU and assess when day 5 phenylalanine levels are greater Untreated "classical" phenylketonurics have severe learning
than 240 mmol/La level at which no transamination occurs. disorders (IQ 30 or lower). They are frequently blue-eyed,
Monitoring growth and development while controlled fair-haired and with fair skins. Eczema is often troublesome.
plasma phenylalanine levels allow children to develop into Some have convulsions, athetosis and electroencephalographic
neurologically intact adults. The benefits of lifelong therapy changes. Many show psychotic features such as abnormal
are still being debated. posturings with hands and fingers, repetitive movements
Several patients have been described with choking such as head-banging or rocking to and fro and complete
attacks, muscular hypotonia, developmental delay and lack of interest in people as distinct from inaminate objects.
convulsions, and mild to moderate hyperphenylalaninaemia. The tendon reflexes are often accentuated. It should be noted
Liver phenylalanine hydroxylase activities have been that infants born homozygous for the phenylketonuric trait
normal and there has been continued clinical deterioration are not brain-damaged at birth. They only become so after
in spite of adequate dietary control. In these patients, they start to ingest phenylalanine in their milk.
there is defective synthesis of tetrahydrobiopterin or of
Maternal Phenylketonuria
biopterin from dihydrobiopterin. As tetrahydrobiopterin is
the co-factor for phenylalanine hydroxylase, its deficiency As a consequence of defects of phenylalanine and tyrosine
prevents the conversion of phenylalanine to tyrosine even metabolism in the mother, abnormalities have been reported
though the phenylalanine hydroxylase enzyme is normal. among a large number of infants of phenylketonuric women.
Deficiencies of tetrahydrobiopterin will also interfere with These include mental retardation, microcephaly, congenital
the conversion of tyrosine to dihydroxyphenylalanine heart disease and intrauterine growth retardation. Congenital
(DOPA) and noradrenaline and the conversion of tryptophan anomalies are uncommon in the offspring of mothers with
to serotonin, as tetrahydrobiopterin is also a co-factor for phenylalanine concentrations below 600 mmol/L at the
the enzymes involved. These tetrahydrobiopterin defects time of conception. However, head size, birth weight and
are found in about 1% of hyperphenylalaninaemic children intelligence have been shown to be inversely and linearly
418 Hutchison's Paediatrics
associated with maternal phenylalanine concentrations. that can then be treated to ameliorate the consequences of
Phenylalanine concentrations during pregnancy and in the untreated disease.
period prior to conception should be maintained between 60 Confirmation of the diagnosis of phenylketonuria: All infants
and 250 mmol/L. Effective contraception should be continued in whom the Guthrie or other screening test has shown a
until control has been achieved. Biochemical monitoring blood phenylalanine of more than 240 mmol/L (4 mg/100 ml)
should be at least twice weekly and careful fetal ultrasound on two occasions should be further investigated.
examinations to assess fetal growth and anatomy should be
performed. Restriction of maternal dietary phenylalanine Treatment
with tyrosine supplementation when necessary begun prior
Treatment, which should begin as soon as after birth as
to conception controls the blood phenylalanine level and
metabolite accumulation in the pregnant mother with PKU possible, is focused on restricting the intake of phenylalanine
just as it does in the child with PKU. Dietary treatment by means of a special diet.
begun after 8th week of conception is much less effective. The accepted dietary treatment of PKU consists of
It is essential, therefore, those women with PKU should be reducing the intake of phenylalanine to a level, which will
appropriately counselled and supported so that their children prevent serious hyperphenylalaninaemia. A low-phenylalanine
are conceived under the best possible phenylalanine control. diet cannot fully substitute for the phenylalanine turnover
normally exerted by hepatic phenylalanine hydroxylase.
Diagnosis As most food proteins contain phenylalanine, it is obvious
that a low-phenylalanine diet must be largely synthetic and
When it became clear that a low-phenylalanine diet improved
consequently expensive. Such a diet is complex and depends
the intelligence of patients with PKU, the need for early
on the use of manufactured substitutes for many natural
diagnosis, before intellectual impairment had occurred, was
foods. There is strong evidence that phenylalanine restriction
recognised. This requirement demands the "screening" of
all newborn infants in a community. Those infants found to can prevent mental retardation if treatment is started during
give a positive result with the screening test require to be the first 3 weeks of life. In health systems with established
submitted to more detailed confirmatory tests. neonatal screening programmes, the untreated older sufferer
from PKU is a rarity.
Screening tests: The urine of an affected infant may be noted
The low-phenylalanine feed is fed to satiety although care
to have a mousy smell caused by phenylacetic acid. The
must be taken to ensure that the infant's nutritional needs
presence of phenylpyruvic acid in the urine can be quickly
are met. Breast-fed infants obtain phenylalanine from their
detected by adding a few drops of 5% or 10% aqueous
mother's milk. Human milk contains less phenylalanine
solution of ferric chloride to 5 ml of acidified urine, when
than baby milk formula so that more mother's milk and less
a green colour will rapidly develop. Alternatively, a wet
low-phenylalanine formula is required to control the infant's
napkin can be tested with Phenistix (Ames Co.), which is
pressed between two layers of the napkin resulting in the blood phenylalanine concentrations. Mothers are encouraged
development of a similar green colour. This technique was to continue breast-feeding on demand but prior to 3 or 4 of the
widely adopted as a screening test in the United Kingdom but breast-feeds, low-phenylalanine formula 1520 ml/kg (i.e. 60
was soon shown in practice to have real limitations in that ml/kg per day) is given. The volumes of low-phenylalanine
many cases (45%) were missed during the neonatal period. formula given are adjusted to maintain a blood phenylalanine
The neonatal screening programmes, which are now used, concentration of 120360 mmol/L (26 mg/100 ml).
permit the accurate detection of infants who have raised Mixed feeding should be introduced between 4 and 6
blood phenylalanine levels from the 5th day of life. The most months. Infants who are not breast-fed should initially have
commonly used screening test for raised blood phenylalanine solids containing negligible amounts of phenylalanine, e.g.
in the United Kingdom was initially the Guthrie bacterial strained vegetables and fruit, or manufactured baby foods
inhibition test, which has been proved to be extremely known to have very low-phenylalanine content. Breast-fed
reliable. Both the Guthrie test and chromatography can be infants should be introduced to solids, which contain some
modified to "screen" for several other inborn errors such as phenylalanine. Initially 50 mg phenylalanine should be given,
galactosaemia, tyrosinaemia, and homocystinuria and MSUD. e.g. one Farley's rusk or specific quantities of baby foods
Techniques have evolved from Guthrie bacterial inhibition known to contain 50 mg phenylalanine. Close and relatively
tests to tandem mass spectrometry, which can potentially frequent monitoring of the blood phenylalanine levels is
identify a vast array of conditions. The objective is to necessary at this stage to ensure a correct balance between
identify as soon after birth as possible and before the onset of the amounts of phenylalanine received from solid food and
recognisable clinical symptoms, specific metabolic disorders the amount received from breast-milk.
Metabolic Diseases 419
Between the ages of 9 and 12 months a gradual change OTHER DISTURBANCES OF AMINO ACID
over from low phenylalanine milks to one of the amino acid METABOLISM
mixtures can be given. We have adopted a diet which is
easy to prepare and reasonably acceptable to the child. The Hypertyrosinaemia
parents of young children starting solid food are given food Hereditary tyrosinaemia type 1 (hepatorenal tyrosinaemia)
tables indicating the weight of individual foodstuffs, which is due to a deficiency of the enzyme fumarylacetoacetase
contain 50 mg phenylalanine (L-phenylalanine exchange). hydrolase. It presents acutely in the newborn infant with
The number of exchanges required will be determined by failure to thrive, vomiting, diarrhoea, hepatomegaly and
regular measurements of the child's blood phenylalanine bleeding disorder with bruising, haematemesis, melaena
levels. By this means the child's food preferences can best be and haematuria; death from haemorrhage and liver failure is
catered for. Many fruits and vegetables can be given without common. Plasma and urinary concentrations of tyrosine and
restriction though some, e.g. peas, beans, potatoes, must be methionine are increased. Patients with a more chronic form
accounted for. may occur within the same family and have in addition to
On this diet a child can sit down to a meal which, apart liver disease, renal tubular dysfunction, hypophosphataemia
from the lack of meat and other protein, looks very like that and rickets. In later life, hepatoma develops in more than
of the rest of the family. PKU children can be taken to hotels half of those surviving the first year and many develop
and holiday camps, and we have experienced no difficulty in hepatic cirrhosis and episodes of severe acute peripheral
arranging for schools to provide the special diet. Indeed, we neuropathy.
have been told that sometimes the child's classmates envy Tyrosinaemia type 2 (oculocutaneous tyrosinaemia) is due
them their special diet. to a deficiency of tyrosine aminotransferase. Eyes, skin and
The dietary treatment of PKU has been considered in central nervous system (CNS) are the only organs known
some detail because the same principles are applicable in to be affected in tyrosinaemia type 2. It is characterised by
several of the other IEM, which involve the essential amino lacrimation, photophobia with tyrosine crystals in the cornea
acids. It will be obvious to the reader that the adequate and with associated dendritic keratitis and ulcers. Keratitis
treatment of the IEM requires that such patients attend also affects the skin.
special centres with the necessary dietetic and laboratory Treatment with NTBC (2-(2-nitro-4 trifluoromethyl-
facilities. Children with PKU vary greatly in their tolerance benzoyl)-1,3-cyclohexanedione was introduced in 1992 for
to phenylalanine and the frequency of blood testing will tyrosinaemia type 1 and has revolutionised the outlook. NTBC
need to be more in some than in others. In general, we test blocks tyrosine degradation inhibiting 4-OH phenylpyruvate
blood phenylalanine concentration weekly up to the age of 4 dioxygenasean earlier step in tyrosine metabolism. Due to
years, every 2 weeks thereafter up to the age of 10 years and the consequent build up of tyrosine levels (which can give rise
thereafter monthly. The parents require constant guidance to features akin to tyrosinaemia type 2), a low-phenylalanine
and tyrosine diet is required. The risk of hepatocellular
and support particularly from the dietitian. The intelligence
carcinoma is much reduced.
and completely commitment of the parents are primary
determinants of the childs intellectual development. There Alkaptonuria
are as yet no clear guidelines to indicate whether the special
Alkaptonuria is due to deficiency of the enzyme homogentisic
diet can be stopped. At the present time, we recommend that
acid oxidase so that homogentisic acid, instead of being
the diet should be continued for life.
converted to maleylacetoacetate, accumulates in the tissues
Although treated individuals may achieve a high academic and is excreted in the urine. The urine is noted to turn
status, there can be subtle global impairment determined dark on standing as the homogentisic acid is oxidised to a
by the degree of control in the early years of treatment. melanin-like product (or it can be made to do so immediately
Magnetic resonance imaging (MRI) reveals abnormal myelin by the addition of ammonia or sodium hydroxide). The
structure in most adolescents and adults with phenylalanine alkaptonuric is symptomless in childhood but in adult life
concentrations greater than 400 mmol/L. Overt neurological develops ochronosis and arthritis. This causes an ochre-like
deterioration is found in some. It is now evident that we must pigmentation of sclerae, ears, nasal cartilages and tendon
aim for very strict control in earlier life, promote a policy sheaths, also kyphosis and osteoarthritis of the large joints.
of lifetime treatment and ensure a strict preconception diet in Although the inheritance is usually autosomal recessive, a
women likely to conceive. Effective and safe gene therapy few families have shown dominant inheritance. There is no
may be a reality in the not too distant future. specific treatment.
420 Hutchison's Paediatrics
Organic Acidaemias
There are now described more than thirty inherited
conditions characterised by an excessive urinary excretion
of acidic metabolites of amino acids, carbohydrates and fats.
Infants with otherwise unexplained metabolic acidosis, who
become acutely ill, should have plasma and urine levels of
a specific organic acid and its by-products analysed by gas
chromatography-mass spectrometry (GC-MS) in order to
detect conditions such as 3-methylcrotonyl glycinuria, IVA,
glutaric aciduria, propionic aciduria and methylmalonic
aciduria. Of these, propionic and methylmalonic aciduria
constitute the most commonly encountered abnormal organic
acidurias in children.
Infants with isovaleric, propionic and methylmalonic
acidurias have many symptoms in common. Babies after
an initial symptom-free period may present with feeding
difficulties, vomiting, lethargy, respiratory distress, Fig. 20.2: The ornithine-urea cycle
Metabolic Diseases 421
argininosuccinic acid is cleaved to form arginine and fumaric genu valgum, pes cavus, arachnodactyly, irregular epiphyses,
acid by argininosuccinate cleavage enzyme (arginino vertebral changes, osteoporosis and pectus carinatum or
succinase). The enzyme arginase finally converts arginine excavatum. The fully developed picture resembles that of
into urea and ornithine. The synthetic process takes place in Marfan's syndrome (Marfanoid habitus of the body) but
the liver. The mechanisms leading to the toxicity of ammonia in the latter there is no mental retardation, osteoporosis
are not fully understood. The clinical manifestations of or thrombotic tendency and the dislocation of the lens is
urea cycle disorders are mainly abnormalities secondary to upwards; inheritance in Marfans is autosomal dominant. A
hyperammonaemia and protein intolerance. A rapid diagnosis significant proportion of patients with homocystinuria develop
and institution of diet is essential for a good prognosis. a normal level of intelligence. The diagnosis can be made
All enzyme defects have autosomal recessive inheritance, early in infancy during screening programmes particularly
except for ornithine transcarbamylase, which is inherited as of the non-pyridoxine responsive form, and before clinical
an X-linked trait with variable expression in the female. abnormalities have become manifest. When suspected in
The increased amounts of orotic acid indicates carbamoyl the older patient, the nitroprusside/cyanide test may be
phosphate was synthesised and along with the plasma amino used to screen the urine. However, this cannot discriminate
acid pattern indicates the specific disorder. In suspected cases between an excess of cystine or homocystine in the urine.
the institution of a high-carbohydrate, protein-free diet may A positive reaction is an indication for chromatographic
produce a dramatic improvement after a few days. Long-term examination of blood and urine for increased concentrations
treatment is with a low-protein diet but the condition shows of homocysteine or methionine. When treatment is started in
a variable clinical expression in age of onset and severity the neonatal period with a diet low in methionine, along with
of symptoms. Even with early institution of a low-protein cystine supplements, normal development may be expected.
diet and prompt treatment of metabolic crises, prognosis for Suitable amino acid mixtures with added cystine are now
normal development is guarded. commercially available. Monitoring of treatment requires
assessing total homocysteine in the blood. Worldwide, there
Argininaemia are two distinct types of homocystinuria: about 50% of cases
Argininaemia presents in childhood with hyperammonaemia, respond completely to treatment with pyridoxine (vitamin B6)
vomiting and retarded development with spastic quadriplegia, 150450 mg/day used as single-agent therapy, but the other
convulsions and hepatomegaly. Plasma and cerebrospinal half remain unresponsive. The treatment is more successful
fluid (CSF) arginine concentrations are grossly elevated and when the diagnosis is made early.
the urine contains excessive quantities of cystine, lysine,
ornithine, arginine and citrulline. Arginase deficiency can disorders of specific sugars
be demonstrated in erythrocytes and is rare (1 in 500,000).
Pathogenesis
DISORDERS OF THE SULPHUR-CONTAINING Galactose is ingested as lactose in milk, which undergoes
AMINO ACIDS splitting in the intestine into its component monosaccharides
Homocystinuria glucose and galactose. Milk and its products are virtually
the sole source of dietary galactose in man. Galactose is
Homocystinuria is a rare defect of the sulphur-containing then converted to glucose or energy in a series of enzyme
amino acids (1 in 350,000). Inheritance is autosomal steps (Fig. 20.3). Although the liver is the main site of this
recessive, and the defect is in cystathionine b-synthetase. conversion, the demonstration of a similar series of enzyme
This enzyme catalyses the condensation of homocysteine reactions in red cells and the excess accumulation of galactose-
(derived from methionine) with serine to form cystathionine. l-phosphate (Gal-1-P) in the erythrocytes from galactosaemic
This enzyme block results in accumulation of homocysteine in patients made it likely that the defect lay in the activity of Gal-
blood and tissues, and its excretion in the urine in its oxidised 1-P uridyl transferase and in the inability to convert Gal-1-P to
form, homocystine (dimer). There will also be raised blood glucose-1-phosphate (step 2 in Fig. 20.3). The accumulation
levels of methionine; cystathionine levels in the brain are in the erythrocytes of Gal-1-P, believed to be the major toxic
grossly reduced. Usually the four systems involved are the substance in galactosaemia is evidence that galactokinsae
eye, the skeleton, the CNS and the vascular system. The activity is normal. In fact, galactosaemic red cells have been
fully developed clinical picture includes mental retardation, confirmed to be defective in Gal-1-P uridyl transferase and a
seizures, malar flush, fair hair, downward dislocation of the similar deficiency has been demonstrated in liver tissue from
lens, livido reticularis and thromboembolic episodes in both affected patients. Gal-1-P uridyl transferase is absent in all
arteries and veins. Skeletal changes are also common, e.g. tissues and the enzyme deficiency persists throughout life.
422 Hutchison's Paediatrics
the development of cataracts and should be started as early in response to removal of fructose from the diet. An oral
infancy as possible. fructose tolerance test (l g/kg up to a maximum of 50 g)
results in a marked and prolonged fall in the blood glucose
Epimerase Deficiency level and a fall in the inorganic phosphorus but is potentially
Deficiency of epimerase enzyme may produce a clinical very dangerous. Thus, removal of fructose from the diet and
picture similar to that of Gal-1-P uridyl transferase defect genetic testing is now the preferred approach.
or may be asymptomatic. Symptomatic patients also respond
to milk-free diets. It is rare, representing less than 3% of Treatment
galactosaemic children. The treatment consists simply in the lifelong removal of
all fructose-containing foods from the diet and of sucrose
Hereditary Fructose Intolerance from the milk feeds. Sorbitol, a fructose polymer, must not
Aetiology be used as a sweetening agent. An incidental benefit of the
sucrose-free diet is a marked reduction in the incidence of
This disease causes severe metabolic disturbances and it is dental decay.
inherited as an autosomal recessive trait. It must be clearly
distinguished from benign fructosuria which is due to a Hereditary Fructose-1,6-Bisphosphatase
deficiency of fructokinase and which produces no clinical Deficiency
disease.
Although not a defect of the specialised fructose pathway,
Pathogenesis hepatic fructose-1,6-bisphosphatase deficiency is usually
classified as an error of fructose metabolism. It manifests
The metabolic pathways of fructose are complicated. The with spells of hyperventilation, apnoea, hypoglycaemia,
primary enzymatic defect is in fructose-1-phosphate aldolase, ketosis and lactic acidosis and may be life-threatening in the
which in the liver and intestine splits fructose-l-phosphate newborn period.
into two trioses, (1) glyceraldehyde and (2) dihydroxyacetone
phosphate. This defect results in the accumulation of fructose- DISORDERS OF PURINE AND PYRIMIDINE
1-phosphate, which inhibits fructokinase and leads to high METABOLISM
blood levels of fructose after its ingestion in the diet. The
intracellular accumulation of fructose-1-phosphate prevents Inherited disorders of purine and pyrimidine metabolism are
the conversion of liver glycogen to glucose. rare.
Hereditary orotic aciduria is an autosomal recessive condition
Clinical Features in which there is failure to thrive, hypochromic anaemia
Symptoms only appear when fructose is introduced into the with megaloblasts in the bone marrow, and increased urinary
diet as sucrose (glucose + fructose) in milk feeds, as sorbitol excretion of orotic acid. The underlying enzyme defect may
or as fruit juices. The condition varies in severity, partly involve one or both of the enzymes concerned in the synthesis
according to the amounts of fructose ingested, and the wholly of uridine monophosphate, orotate phosphoribosyltransferase
breast-fed infants remain symptomless. Common features and orotidylate decarboxylase. Treatment with uridine, l g per
are failure to thrive, anorexia, vomiting, diarrhoea and day, results in correction of the anaemia and impaired growth.
hepatomegaly; these may lead to marasmus. Hypoglycaemia Lesch-Nyhan syndrome is an X-linked recessive disorder
may cause convulsions or loss of consciousness. Liver damage in which male infants are generally normal at birth. It is
may result in jaundice, and liver function tests are abnormal. characterised by CNS disorders of various types and
Albuminuria, fructosuria and excess aminoaciduria may be excessive quantities of uric acid in blood, tissue and urine.
present. Hyperfructosaemia and hypoglycaemia develop The disorder is caused by deficiencies of the enzyme
following upon the ingestion of fructose or sucrose. Death hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
ensues in undiagnosed infants. In milder cases in older Affected boys can be severely mentally retarded and have
children gastrointestinal symptoms predominate, and in some choreoathetosis, spasticity and distressing compulsive
a profound distaste of anything sweet develops spontaneously self-mutilation or they may present with gouty arthritis or
as a protective mechanism. ureteric colic caused by urate stones. A definite diagnosis of
the Lesch-Nyhan syndrome can be made by the absence of
Diagnosis HGPRT activity in the peripheral circulating erythrocytes.
The diagnosis is usually suspected due to its clinical Allopurinol and probenecid will reduce the hyperuricaemia
presentation, by a dietary history and by a favourable but has little effect on the neurological dysfunction.
424 Hutchison's Paediatrics
of the morning overnight continuous intragastric feeding can adult life and manifestations limited to skeletal muscle. The
produce remarkable clinical benefit. Use of slowly digested muscle involvement is mainly proximal muscle weakness
carbohydrate such as cornflour can help to maintain blood including impairment of respiratory function. Death results
glucose concentration. Episodes of severe metabolic acidosis, from respiratory failure.
often precipitated by intercurrent infections, can endanger
life. They must be promptly treated with intravenous Treatment
glucose and sodium bicarbonate under careful biochemical Enzyme replacement therapy (ERT) therapy appears to
control. Diazoxide may be of help in infants with intractable stabilise the clinical symptoms in the later onset and if
hypoglycaemia. Portocaval anastomosis, which acts by instituted early improves the scenario in neonatal onset.
diverting glucose from the liver to the tissues, may be of
help. Liver transplantation has been performed in GSD Type III Glycogenosis (Limit Dextrinosis;
type I but should be performed only after all other methods Debrancher Enzyme Deficiency)
of treatment have failed or if there has been malignant
transformation of adenoma. If these children can be tided Aetiology
over the dangerous early years their health often improves It is autosomal recessive.
greatly during adolescence.
Pathogenesis
Glycogenosis of the Heart (Cardiomegalia
The debrancher enzyme (amylo-1,6-glucosidase) is absent
Glycogenica; Idiopathic Generalised
from liver, skeletal and cardiac muscle, resulting in glycogen
Glycogenosis; Pompes Disease; Type II) deposition in these organs (unlike von Gierkes disease,
Aetiology where glycogen deposition does not occur in heart and
skeletal muscles).
Autosomal recessive inheritance.
The disease may involve the CNS and skeletal muscles as well Hepatomegaly is marked but hypoglycaemic problems are
as the myocardium. It has been shown that the primary defect less troublesome and there is less interference with growth.
is of the lysosomal enzyme acid a-1,4-glucosidase (acid It is common to find the same plump appearance and round
maltase). In biopsy specimens, spontaneous glycogenolysis face as in von Gierke disease (Fig. 20.4). In some cases, the
is rapid and glycogen does not show the abnormal stability, involvement of skeletal muscles gives rise to weakness and
which is a characteristic finding in the other types of hypotonia.
glycogenoses.
Diagnosis
Clinical Features Ketonuria may appear during fasting. De-esterification of
Clinically, the enzyme deficiency results in two major glucose-6-phosphate to glucose can proceed normally and
presentations. The first was originally described by Pompe. there is, therefore, a normal hyperglycaemic response to
The infant becomes ill in the early weeks of life with intravenous galactose or fructose. The serum lactate level is
anorexia, vomiting, dyspnoea and failure to thrive. The heart not often raised but rises during an oral glucose tolerance test
is enlarged, tachycardia is present, and a systolic murmur is (OGTT); there.is dyslipidaemia. The liver glycogen content
commonly heard. Oedema may also develop. The ECG shows is increased and it is abnormal in structure with short external
a shortened P-R interval, inverted T waves and depression chains and an increased number of 1,6 branch points. Activity
of the ST segments. When skeletal muscles are severely of liver amylo-1,6-glucosidase is not detectable. It is also
involved the degree of hypotonia may simulate Werdnig- possible to demonstrate an elevated erythrocyte glycogen of
Hoffmann disease. In some infants, macroglossia has been the limit dextrin type. Direct assay of the enzyme in liver and
so-marked as to arouse the suspicion of cretinism. On the muscle tissue is confirmatory.
other hand, hepatomegaly is not prominent until cardiac
Treatment
failure is advanced. The diagnosis may be established by
muscle biopsy and the demonstration of increased glycogen Frequent feedings with a high-carbohydrate, high-protein diet
content. There will also be low acid maltase activity in the and overnight nasogastric feedings can be very beneficial.
leucocytes. Cardiac involvement is rarely clinically demonstrable but
The second presentation is of a more slowly progressive strenuous exercise should probably be avoided. No specific
muscle disorder, with symptoms beginning in childhood or in treatment is available for this disorder.
Metabolic Diseases 427
Niemann-Pick Disease death by 2.55 years of age. These are complex lipids and
their catabolism involves a succession of enzymes of which
Aetiology
hexosaminidase is lacking in Tay-Sachs disease. There are
Sphingomyelin, a component of myelin and other cell two hexosaminidases in the body, hexosaminidases A and
membranes, accumulates within cells throughout the CNS and B. In classical Tay-Sachs disease (type 1)commonly seen
other tissues. Sphingomyelin is normally catabolised by the in Ashkenazi Jewsonly hexosaminidase A is lacking; in
action of sphingomyelinase but in Niemann-Pick disease type A the non-Jewish form (type 2: Sandhoff disease), which is
or B this enzyme activity is only about 7% of normal. In type clinically indistinguishable, both A and B are absent. There
C, there is a complex defect in cellular cholesterol trafficking. are also extremely rare adult and juvenile forms which have
their onset after the age of 1 year and in which hexosaminidase
Clinical Features A activity is from 10% to 12% of normal. All types are
This disease also consists of a group of disorders characterised inherited as autosomal recessive.
by hepatosplenomegaly and accumulation of sphingomyelin
(ceramide phosphorylcholine) in organs and tissues. Three Clinical Features
clinical forms have been identified. In type A (acute neuropathic), In this disease because the deposition of lipid is confined
which is the commonest, there is hepatosplenomegaly by 6 to the CNS the features are neurological in character.
months of age and there are severe feeding difficulties related They appear between the ages of 4 and 6 months as delay
to CNS involvement. It is inherited in an autosomal recessive in psychomotor development, irritability, hyperacusis for
fashion. The infant's abdomen becomes greatly protuberant due sudden noises, spasticity, generalised weakness and muscle
to massive hepatosplenomegaly. Skin pigmentation is common wasting. An outstanding feature is progressive loss of
and severe wasting is invariable. Deterioration in cerebral vision leading to complete blindness. The deep reflexes are
functions appears early and progresses to a state of severe exaggerated, at least to begin with, and the plantar responses
incapacity with generalised muscular weakness and wasting. are extensor. Ophthalmoscopy reveals primary optic atrophy
Pulmonary involvement is commonly found. Anaemia of and the diagnostic macular cherry-red spot on each side,
severe degree is an early sign but thrombocytopenia develops surrounded by a greyish-white halo appearance (Fig. 20.5).
late, in contrast to its early appearance in Gaucher disease. In Convulsions may occur. Ultimately there are dysphagia,
some affected infants, ophthalmoscopy reveals a cherry-red dementia, blindness and a tendency to repeated respiratory
spot at the macula resembling the retinal appearance in Tay- infections due to accumulation of mucus. Diagnosis can be
Sachs disease and corneal opacities may be found. confirmed by enzyme estimations on leucocytes or in skin
Confirmation of diagnosis depends on demonstration of fibroblasts grown in tissue culture. Death usually occurs
increased sphingomyelin levels in tissue specimens (usually liver before the age of 3 years.
or spleen) and/or identification of a specific sphingomyelinase
deficiency in white blood cells, fibroblasts or visceral specimens.
In type B (chronic non-neuropathic), there is a slightly
later onset and no evidence of CNS impairment. Pulmonary
infiltration can predispose to recurrent respiratory
infections. In type C (chronic neuropathic), there is gradual
onset, usually after the age of 18 months, of neurological
impairment manifest as ataxia, loss of speech with dysarthria
and convulsions. Most die before the age of 15 years.
Treatment
Currently there is no specific therapy for type A or B
Niemann-Pick disease. In type C, miglustat may prevent
further deterioration.
A B C
Figs 20.6A to C: MPS type 1-H: Hurler syndrome
from the anterior border of the first or second lumber be biconvexity of the vertebral bodies and some degree of
vertebra, which tends to be displaced backwards. Bone age claw hand. There may also be a very thick calvarium.
is usually delayed. Affected children are severely mentally
retarded. They show diminished physical activity. This is Mucopolysaccharidosis Type 4
partly due to excessive breathlessness on exertion when the (Morquio Syndrome)
heart is involved. Cardiomegaly, precordial systolic and This is probably the disease first described by Morquio in
diastolic murmurs, and electrocardiographic evidence of left Montevideo in 1929. The urine contains large amounts of
ventricular hypertrophy are commonly found. Death takes keratan sulphate, a mucopolysaccharide that is unrelated to
place before adult life from congestive cardiac failure or dermatan or heparan sulphate. Mental deficiency is not a
intercurrent respiratory infection. usual finding and the face and skull are only slightly affected.
While the child with this disorder somewhat resembles The neck is short, there is marked dorsal kyphosis and the
a cretin, there are very obvious clinical differences, e.g. sternum protrudes. The arms are relatively long for the
corneal opacity, hepatosplenomegaly, limitation of extension degree of dwarfism and may extend to the knees. There is,
of the interphalangeal joints, and characteristic radiological however, no limitation of flexion of the fingers. Genu valgum
findings in the skeleton. The precise diagnosis should be with enlarged knee joints and flat feet are present. There is
based on demonstration of the specific enzyme deficiency in a waddling gait. Radiographs may reveal platybasia, fusion
leucocytes or cultured fibroblasts. of cervical vertebrae and flattening of the vertebral bodies;
odontoid dysplasia predisposes to atlanto-axial subluxation
Mucopolysaccharidosis Type 2
with the risk of acute or chronic cervical cord compression.
(Hunter Syndrome) The metaphyses of the long bones may be irregular and the
This form of MPS is X-linked. It differs from Hurler epiphyses are misshapen and fragmented. Mild degrees of
syndrome in usually being less severe, but there is a severe corneal opacity may appear at a late stage of the disorder.
form which results in death by the age of 15 years and a
milder variety with survival to middle age. Clouding of the Mucopolysaccharidosis Type I-S (Previously
cornea does not occur but deafness is common. The urine Type 5): Scheie Syndrome
contains large amounts of dermatan sulphate and heparan The outstanding features are stiff joints, aortic regurgitation
sulphate in approximately equal quantities. By 12 months and clouding of the cornea (most dense peripherally). The
of age radiographs show a mild but complete pattern of facies shows the characteristics of gargoylism to a lesser extent
dysostosis multiplex. than in Hurler syndrome, intellect is but mildly impaired and
survival to adulthood is common. The urine shows the same
Mucopolysaccharidosis Type 3 distribution of mucopolysaccharides as in Hurler syndrome.
(Sanfilippo Syndrome)
In this variety heparan sulphate is excreted in the urine almost Mucopolysaccharidosis Type 6
exclusively. Mental deficiency is severe and there may be (Maroteaux-Lamy Syndrome)
hyperactivity and destructive behaviour. Visceral and corneal The principal features are severe corneal and skeletal
involvement is relatively mild and the only skeletal signs may changes as in Hurler syndrome and valvular heart disease,
Metabolic Diseases 431
Clinical Presentation
The first of the mitochondrial respiratory chain diseases were
described in relation to disorders of muscle and this resulted
in the term mitochondrial myopathies. It is now known
that other tissues particularly the brain may be involved.
Respiratory chain defects may produce isolated myopathy,
eye movement disorder (ophthalmoplegia) with or without
myopathy and occasionally with CNS dysfunction such as
ataxia, multisystem disease, fatal lactic acidosis of infancy
Fig. 20.7: MPS type 6: Maroteaux-Lamy syndrome and single organ dysfunction such as cardiomyopathy.
The encephalopathies contain a number of recognisable
but mental deficiency does not occur. Hepatosplenomegaly syndromes such as the Kearns-Sayer syndrome characterised
is usually of mild degree. The somatic features in the severe by progressive external ophthalmoplegia, pigmentary
form of Maroteaux-Lamy syndrome are similar to that in retinopathy and heart block, myoclonus epilepsy with ragged-
Hurler syndrome (Fig. 20.7). The urine contains dermatan red fibres (MERRF) where in addition to myoclonic seizures
sulphate almost exclusively. there is weakness, ataxia, deafness and dementia. Myopathy,
encephalopathy, lactic acidosis and stroke-like episodes
Mucopolysaccharidosis Type 7 (Sly Syndome) (MELAS) is characterised by the recurrence of stroke-like
The principal features are unusual facies, protruding sternum, episodes with onset usually before the age of 15 years.
hepatomegaly, umbilical hernia, thoracolumbar gibbus, Cortical blindness and hemianopia usually accompany the
marked vertebral deformities and moderate mental deficiency. stroke-like episodes which may be preceded by a migraine-
like headache, nausea and vomiting. Dementia frequently
Treatment ensues. Another syndrome known as NARP is comprised of
neurogenic weakness, ataxia and retinitis pigmentosa. Unlike
In all types of MPS, the parents must be given genetic
the other syndromes described there are no morphological
counselling and prenatal diagnosis is also possible.
changes in skeletal muscle and the mitochondrial DNA
Encouraging results in MPS are being obtained with early
(mtDNA) defect affects ATP synthesis.
bone marrow transplantation when an appropriate well-
Leigh syndrome of sub-acute necrotising encephalomyo-
matched donor is available. Specific ERT for five MPS
pathy presents with vomiting, failure to thrive, developmental
disorders exist, but have little, if any, effect on neurological
delay, muscular hypotonia and respiratory problems. There
aspects.
may also be ophthalmoplegia, optic atrophy, nystagmus and
dystonia. The disorder usually presents at around the age of
MITOCHONDRIAL DEFECTS
6 months but may be present from birth or may not appear
Energy, in the form of ATP, is generated by oxidative until late teenage. In Leigh encephalopathy like many of the
phosphorylation of breakdown products of metabolic fuels mitochondrial syndromes, it is difficult to pinpoint a single
such as glucose, fatty acids, ketone bodies and organic and biochemical abnormality. There are defects of the respiratory
amino acids in the mitochondria. This breakdown of nutrient chain, pyruvate dehydrogenase complex and biotinidase,
fuels (oxidation) generates reduced factors such as NADH which variably present with this syndrome. Lactate and
and reduced flavo-proteins. These must be re-oxidised for pyruvate concentrations are frequently elevated in blood and
re-utilisation in this process by the respiratory chain. The CSF and MRI scans show characteristic low density areas
mitochondrial respiratory chain is a series of five complexes within the basal ganglia or less commonly the cerebellum.
situated within the inner mitochondrial membrane. There There is occasionally an autosomal recessive pattern of
432 Hutchison's Paediatrics
inheritance in Leigh syndrome, which suggests that it may be may act as artificial electron acceptors. Some improvement
caused by a nuclear gene rather than a mitochondrial defect. in electron transfer has been suggested by nuclear magnetic
However, in some patients mutations have been found in resonance (NMR) studies in these patients but there is some
mtDNA. There are some patients who do not fit into these doubt as to the overall clinical benefit. Other treatments
clinical patterns of disease and many have been shown to have included thiamine, biotin, L-carnitine, riboflavin
have multiple defects of respiratory chain complexes due to and dichloracetate. As the mitochondrial respiratory chain
mtDNA disorder. generates free radicals, scavengers such as vitamin E might
Leber hereditary optic neuropathy (LHON) is one of the be of some clinical benefit. Unfortunately most of these
commonest inherited causes of blindness in young men due conditions are progressive and result in significant disability
to a disorder of mtDNA. Some men with the disorder have and/or death. Considerable support of the families involved
an encephalopathy with deafness and dystonia and a few is required during the care of these infants and genetic
develop cardiac conduction defects. There is some evidence counselling with prenatal diagnosis is available for some of
that a gene on the X-chromosome may be linked with this these conditions.
disorder.
There are a variety of syndromes with non-neuromuscular PEROXISOMAL DISORDERS
presentation, which involve the gastrointestinal tract with
Peroxisomes are present in every body cell except the mature
anorexia and vomiting and occasionally hepatic failure; yet
erythrocyte and are particularly abundant in tissues active
others have cardiomyopathy with different degrees of heart
in lipid metabolism. They do not contain DNA and are,
block, renal disease with generalised aminoaciduria and
therefore, under the control of nuclear genes. Peroxisomes
haematological disorders affecting bone marrow function. In
have a number of metabolic functionsparticularly:
Pearson syndrome, which presents at birth or early infancy
a. Fatty acid -oxidation of very long-chain fatty acids
there is refractory sideroblastic anaemia, thrombocytopenia,
(VLCFAs), pristanic acid and cholestanoate compounds
neutropenia, metabolic acidosis, pancreatic insufficiency
which are intermediates in biosynthesis of bile acids
and hepatic dysfunction. Renal tubular disorder, diarrhoea,
b. Plasmalogen synthesis
steatorrhoea and skin lesions with eventual liver failure have
c. Phytanic acid oxidationa branch-chain fatty acid
been described. Deletions of mtDNA have been identified.
formed from chlorophyll metabolism, and
Many of the respiratory chain disorders may present in the
d. Glycolate detoxification preventing formation of oxalate.
very young but there are three specific syndromes affecting
Over sixteen clinical and biochemical disorders have
the infant. The first is fatal infantile lactic acidosis. Infants
now been ascribed to disorders of peroxisomal metabolic
present with hypotonia, vomiting and ventilatory failure
functions.
and die often before the age of 6 months. A generalised
Table 20.2 gives a tentative classification of the
aminoaciduria (de Toni-Fanconi-Debr syndrome), grossly
peroxisomal disorders. In the group l disorders, there
increased plasma lactate concentrations, hypoglycaemia,
is a reduction or absence of functional peroxisomes.
liver dysfunction, convulsions and increased plasma calcium
Zellweger syndrome is a lethal disease presenting with
have been reported. The second clinical presentation is
severe hypotonia, typical craniofacial abnormality with
benign infantile lactic acidosis, which may present with
a high domed forehead, severe developmental delay
failure to thrive, respiratory failure and hypotonia with
with neurosensory defects and progressive oculo-motor
increased plasma lactate concentrations but the condition
dysfunction. These neurological abnormalities may be
gradually remits and by 1218 months these infants are often
related to the neuronal migration disorders found in the brain
normal. There is a cytochrome oxidase defect, which appears
at post-mortem. There is also progressive liver dysfunction
to improve with age and may be related to a switch from a
with chondrodysplasia calcificans of the patellae and the
fetal to an adult form of complex IV. The third syndrome is
acetabulum. In neonatal adrenoleukodystrophy (ALD), there
the mtDNA depletion syndrome in which the infant is weak, is progressive demyelination of the cerebral hemispheres,
hypotonic and has respiratory difficulties together with renal cerebellum and brainstem with neuronal migration
tubular disorder and convulsions. The condition is usually disturbances and perivascular lymphocytic infiltration.
fatal before the age of 1 year. There is also adrenal atrophy. In infantile Refsum disease
(IRD), there is developmental delay, retinitis pigmentosa,
Treatment
failure to thrive and hypocholesterolaemia. In the group 2
Children with respiratory chain defects have been treated disorders, rhizomelic chondrodysplasia punctata (RCDP)
with vitamin C (4 g/day), vitamin K (menadione: 50 mg/day) is an autosomal recessive disorder characterised by short
and ubiquinone (100 mg/day) in the hope that these vitamins stature, a typical facial appearance, joint contractures and
Metabolic Diseases 433
Table 20.2: Classification of peroxisomal disorders overall benefit of this form of therapy. About 25% of ALD
cases present in adulthood with paraparesis whilst a few may
1. Peroxisome deficiency disorders
exhibit adrenocortical insufficiency without neurological
Neonatal adrenoleukodystrophy
involvement. About 20% of female heterozygotes develop
Infantile Refsum disease
mild or moderate progressive paraparesis after the age of 40
Hyperpipecolic acidaemia
years.
2. Disorders with loss of multiple peroxisomal functions and
peroxisome structure in fibroblasts The other disorders are also rare apart from primary
Rhizomelic chondrodysplasia punctata hyperoxaluria type I, an autosomal recessive disorder of
Zellweger-like syndrome glyoxylate metabolism, in which there is recurrent calcium
3. Disorders with an impairment of only one peroxisomal function oxalate nephrolithiasis and nephrocalcinosis presenting
and normal peroxisomal structure during the first decade. There are a few, however, who
Disorders of peroxisomal -oxidation: present with an acute neonatal form of the disorder and early
Adrenoleukodystrophy (X-linked) and variants death.
Acyl-CoA oxidase deficiency
Bi (multi) functional protein deficiency Treatment
Peroxisomal thiolase deficiency
Apart from the attempt to treat X-linked ALD with fat
Other disorders:
restriction and supplementation with glycerol trioleate
Acyl-CoA: Dihydroxyacetonephosphate acyltransferase
(DHAPAT) deficiency
and glycerol trierucate, which has been shown to improve
Primary hyperoxaluria type I
peripheral nerve function, but not as yet to effect long-
Acatalasaemia
term benefit there are recent reports that bone marrow
Glutaryl oxidase deficiency transplantation may be effective in mildly affected childhood
ALD patients. In more advanced X-linked ALD, bone
marrow transplantation worsened the clinical picture. It is
X-ray changes showing stippling of the epiphyses in infancy hoped that gene therapy might improve the outlook for this
and severe symmetrical epiphyseal and extra-epiphyseal condition. Treatment with pyridoxine may be effective in a
calcifications in later life. Only few patients have been small number of patients with primary hyperoxaluria type
described as having the Zellweger-like syndrome which is I. Haemodialysis may be required during end-stage renal
clinically indistinguishable from the classical Zellweger but failure in this disease and surgical removal of oxalate stones
shows abundant peroxisomes in the liver. In the group 3 may be required. Eventually combined liver and kidney
disorders with impairment of a single peroxisome function transplant becomes necessary for survival.
and with a normal peroxisome structure ALD, an X-linked
recessively inherited disorder, usually affects males between CONCLUSION
the ages of 4 and 10 years.
Initially there may be attention deficit noticed in school Although individual inherited metabolic diseases are rare
followed by convulsions, visual disturbance with the later and this book contains only a limited review of some of
manifestations of paralysis and death. This phenotype the disorders, collectively they form a major grouping of
known as childhood ALD has been treated with long-chain disorders causing significant mortality and an overwhelming
polyunsaturated fatty acids but there is some doubt as to the burden of morbidity for families and the community.
Louis Low
C H A P T E R
Endocrine Disorders 21
in Table 21.1. Extent of the anterior and posterior pituitary
HYPOPITUITARISM
dysfunction depends on the extent of the damage.
Embryologically the pituitary gland is formed from the
Rathke pouch, a diverticulum of the stomodeal ectoderm and Clinical Features
the neuroectoderm of the floor of the forebrain. A number The usual presenting features include symptoms and signs
of signalling molecules and transcription factors are involved relating to the hormonal deficiencies or the underlying cause
in pituitary organogenesis and the differentiation of the of hypopituitarism. Patients with mutations in the LIM
different cell lineages: somatotropes [growth hormone (GH)], homeobox genes (LHX3, LHX4) have hypopituitarism and
lactotropes (prolactin), corticotropes (adrenocorticotrophic malformation of the skull base and cervical spine. Other
hormone), thyrotropes [thyroid-stimulating hormone (TSH)] pituitary transcription factors mutations can be associated
and gonadotropes [LH, follicle-stimulating hormone (FSH)]. with abnormalities of the development of the eye and
Multiple pituitary hormone deficiencies can result from forebrain structures. Intracranial tumours in the suprasellar
malformations of the hypothalamus and pituitary gland region can lead to visual field defects, neurological symptoms
or mutations of these transcription factors. Patients with and symptoms and signs of raised intracranial pressure like
mutations in the pituitary transcription factors have other headache and vomiting, papilloedema. Polyuria, polydipsia
anomalies associated with hypopituitarism. POU1F1 is the
first pituitary transcription factor to be cloned and mutations Table 21.1: Causes of hypopituitarism
result in defects in somatotrope, lactotrope and thyrotrope
Cerebral malformationsholoprosencephaly, midline facial
development. Mutations in Prophet of PIT1 (PROP1) lead defects, septo-optic dysplasia, congenital hypopituitarism
to combined pituitary hormone deficiency including GH, (transection of pituitary stalk, adenohypophysis hypoplasia,
TSH, prolactin, and adrenocorticotrophic hormone in later ectopic position of posterior pituitary signal on MRI scan)
life. Mutations in PROP1 accounts for 50% of the cases Mutations of pituitary transcription factors genes (multiple pituitary
hormone deficiency) or of pituitary hormone or pituitary hormone-
of genetically determined combined pituitary hormone
releasing hormone genes (isolated pituitary hormone deficiency)
deficiency. Secretion of hormones from different lineages of
Postnatal damage of hypothalamus or pituitary gland:
pituitary cells is dependent on hypothalamic-releasing factors
traumatic or breech delivery
[gonadotrophin-releasing hormone (GnRH), thyrotrophin- head injury
releasing hormone (TRH), corticotrophin-releasing suprasellar or pituitary tumours, e.g. craniopharyngioma, germ
hormone, growth hormone-releasing hormone (GHRH)] or cell tumour, astrocytoma, glioma, prolactinoma
suppressive hormone like somatostatin. Two hormones are infiltrative lesions, e.g. Langerhans cell histiocytosis, sarcoi-
secreted by the posterior pituitary gland: (1) vasopressin and dosis, lymphocytic hypophysitis
(2) oxytocin. Vasopressin is important for the re-absorption pituitary apoplexy
of water by the distal renal tubules and collecting ducts. infection, e.g. meningitis, encephalitis
Vasopressin release is stimulated by rising plasma osmolality; autoimmune
fall in blood volume or blood pressure or by stress. Oxytocin cranial irradiation
release is stimulated by suckling and its role is limited to pituitary haemosiderosis, e.g. transfusion dependent thalassae-
the puerperal period. Causes of hypopituitarism are shown mia major
Endocrine Disorders 435
and dehydration may or may not be present depending on hormone (LHRH) test if there is a strong clinical suspicion of
whether there is posterior pituitary involvement. Short hypopituitarism. Imaging of the hypothalamus and pituitary
stature and infantile body proportions are common due to preferably with magnetic resonance imaging (MRI) is required
GH and thyroid hormone deficiencies. Adrenal insufficiency after establishing a hormonal diagnosis of hypopituitarism.
can lead to lethargy, hypoglycaemia, nausea, vomiting or
even shock when the patient is under stress. In infants with Treatment
hypopituitarism, the presenting features include recurrent Hormonal replacement for adrenal, thyroid, gonadotrophin
hypoglycaemic attacks, micropenis in males (stretched and GH deficiency will be discussed in subsequent relevant
penile length <2.5 cm), persistent neonatal jaundice sections of this chapter.
resembling the neonatal hepatitis syndrome. Microphthalmia,
pendular nystagmus, optic nerve hypoplasia and signs of DISORDERs OF THE POSTERIOR PITUITARY
hypopituitarism suggest septo-optic dysplasia. Early onset
of symptoms indicates a congenital or genetic cause of
hypopituitarism. A proper history can usually shed light on Diabetes Insipidus
the aetiology of postnatal damage to the hypothalamus and The prohormone of vasopressin is synthesised in the cells
pituitary gland. of the supraoptic and paraventricular nuclei and granules of
propressophysin are rapidly transported through the axons
Investigations by axoplasmic streaming and stored in the axon terminals in
Assessment begins with the documentation of anthropometric the posterior pituitary gland. Central diabetes insipidus (DI)
data using standard techniques and the state of the development is due to vasopressin deficiency and the causes are shown in
of the genitalia and pubertal staging. An X-ray for bone age Table 21.2. The patients present with polyuria, polydipsia,
as assessed by the Greulich and Pyle and Tanner-Whitehouse nocturia, or secondary enuresis, passing inappropriate
Atlas will usually show retardation of skeletal maturity large volumes of dilute urine (more than 2 L/m2 per day).
(Fig. 21.1) relative to the chronological age. Baseline Affected children could be admitted in a severe dehydrated
fasting morning cortisol, thyroid hormone, TSH, prolactin, state. Patients with craniopharyngioma or other suprasellar
gonadotrophins and sex steroids (in pubertal age group) tumours can present with signs of raised intracranial pressure,
should be taken and one should proceed to combined pituitary visual field defects, growth failure or symptoms of pituitary
hormone assessment (tests for stimulating GH and cortisol hormone deficiencies. Central DI must be distinguished from
secretion together with TRH and luteinising hormone-releasing other causes of polyuria like diabetes mellitus, nephrogenic
DI, renal tubular disorders, hypokalaemia, hypercalcaemia,
osbstructive uropathy. More than 90% of nephrogenic DI
results from mutations in the vasopressin receptor (V2R)
on chromosome Xq28-qter. Autosomal recessive form of
nephrogenic diabetes insipidus (NDI) is due to mutations in
the aquaporin 2 gene (AQP2) on chromosome 12q12-q13.
Patients usually present in infancy with polyuria, polydipsia,
failure to thrive, unexplained fever, and constipation. The
Table 21.2: Causes of vasopressin deficiency
Tumour (38%)
Carniopharyngioma, optic glioma, germinoma
Vascular
Sickle-cell disease, haemorrhage, shock infection
Hereditary
Familial CDI, X-linked DI, Wolfram syndrome
Cerebral malformation (3.2%)
Septo-optic dysplasia, empty sella, Bardet-Biedl syndrome
Trauma (1.6%)
Infiltrative
Fig. 21.1: Bone age: X-ray of the left hand and wrist of a boy aged Histiocytosis (8%), leukaemia
4 years and 3 months. The bone age using the TW II 20-bone score
Miscellaneous
(Tanner-Whitehouse) is 3.8 years which is just below the 50th percen-
tile for his age Idiopathic (2030%), autoimmune
436 Hutchison's Paediatrics
baby often prefers water to milk. Developmental delay can kg per day) and amiloride (0.30.5 mg/kg per day) and
occur due to severe hypernatraemic dehydration in infancy. indomethacin (13 mg/kg per day) can be used to enhance
In a patient suspected of suffering from DI, an accurate control. The management of the underlying pathology leading
documentation of the daily fluid intake and urine output is to central DI must also be adequately addressed.
required. If the patient is admitted in dehydration with serum
sodium of greater than 150 mmol/L and a plasma osmolality Syndrome of Inappropriate Antidiuretic
greater than 300 mosmol/kg, a simultaneous urine osmolality Hormone Secretion
less than 750 mosmol/kg is suggestive of DI. A water Syndrome of inappropriate antidiuretic hormone (SIADH)
deprivation test is required for diagnosis in a patient who can comprises aetiologically heterogenous conditions leading
compensate for the defect in urine concentration by excessive to retention of water with plasma hypo-osmolality (<270
water drinking. mosmol/kg), normal or slightly increased effective blood
The water deprivation test must be done under medical volume with less than maximally dilute urine (>100 mosmol/
supervision. The patient must be allowed to drink ad libitum kg) and absence of adrenal, thyroid or renal insufficiency.
overnight and the patient must be well-hydrated in the morning Causes of SIADH are shown in Table 21.3. The symptoms
before the test. Fluid is then withheld with hourly monitor consists of apathy, confusion, anorexia, headaches, muscle
of: (a) urine volume and osmolality, (b) body weight, (c) cramps and in several cases convulsion and coma.
plasma sodium and osmolality, and (d) clinical status, pulse, Severe symptomatic hyponatraemia can be corrected by
blood pressure and perfusion. The end-point of the test is: slow infusion of 3% sodium chloride 46 ml/kg over 1 hour
(a) loss of 35% body weight, (b) serum sodium greater than and this will raise the serum sodium by about 5 mmol/L and
150 mmol/L and osmolality greater than 300 mosmol/kg the correction of hyponatraemia should not be faster than a
and the diagnosis of DI is reached if the urine osmolality rise of serum sodium concentration of 1012 mmol/L per
fails to reach greater than 750 mosmol/kg at the end-point of day due to the risk of central pontine myelinolysis. Milder
the test. Vasopressin responsiveness is established by giving cases should be managed by fluid restriction. Ideally one
desmopressin (1 month to 2 years: 510 mg and 212 years: should anticipate and prevent the development of SIADH by
1020 mg intranasally) or arginine vasopressin (1 unit/m2 monitoring the fluid balance, body weight and electrolytes in
subcutaneously) at the end of water deprivation and urine at-risk patients.
volume and osmolality should be assessed hourly for a further
3 hours after desmopressin. In central DI, urine volume will SHORT STATURE
fall and there should be a rise of the urine osmolality at least
The factors governing human growth have already been
by 120 mosmol/kg above the peak value achieved during the
described in the Chapter 2 (Growth and Development).
water deprivation test. Short stature is common but short stature due to an endocrine
After reaching a diagnosis of central DI, one should look cause is less common. Children with a height below the 0.4th
for an underlying cause. Investigations should include a full percentile (below 2.67 SD) with correction for the mean
blood count, skeletal survey (for osteolytic lesions), alpha- parental height (1.6 SD below the corrected mean parental
foetoprotein and human chorionic gonadotripin (germinoma) height) or growing with a subnormal growth velocity should
and MRI of the brain. MRI of the brain is preferred to look be referred for specialist care. A genetic cause of GH
for suprasellar lesions (craniopharyngioma, optic glioma, deficiency can be suspected if there is early onset of growth
germinoma), thickening of the pituitary stalk (histiocytosis, failure, a positive family history or consanguinity, extreme
germinoma, lymphocytic hypophysitis) and loss of posterior
pituitary bright spot on T1-weighted images. Table 21.3: Causes of SIADH
Central nervous system disorders
Treatment Meningitis, encephalitis, intracranial tumours or haemorrhage
Patients with central DI could be treated with oral Respiratory tract disease and infection
desmopressin (212 years: 100800 mg daily in divided Decreased left atrial filing
doses) or by the buccal route. About 60 mg of buccal DDVAP Positive pressure ventilation, pneumothorax, cystic fibrosis
is approximately equivalent to 0.1 mg of oral DDAVP. The Drugs
dosage is adjusted according to the response. Treatment of Carbamazepine, vinca alkaloids
patients with nephrogenic DI includes a diet restricted in Malignancies
sodium (0.7 mmol/kg per day) and protein (11.25 g/kg per Thymoma, bronchogenic carcinoma, lymphoma, Ewing sarcoma
day) but normal caloric content together with an appropriate About
35% of HIV patients have SIADH due to pneumocystis
fluid intake according to age. Hydrochlorothiazide (23 mg/ infection or malignancy
Endocrine Disorders 437
Table 21.4: Causes of short stature patients diagnosed with GH deficiency or multiple pituitary
Genetic short stature
hormone deficiency. Children with constitutional delay in
Constitutional delay in growth and puberty
growth and puberty (CDGP) have slow physical and pubertal
Undernutrition
maturation and a delay in bone age. The diagnosis can only
Chronic illness of all major systems, e.g. chronic renal failure,
be made after the other causes of short stature have been
inflammatory bowel disease, congenital heart disease, inherited excluded.
metabolic diseases, thalassaemia major
Psychosocial deprivation Treatment
S yndromal and chromosomal disorders, e.g. Turner syndrome, In children with CDGP, the final adult height although
Noonan syndrome, Silver-Russell syndrome, Prader-Willi
syndrome, William syndrome, Down syndrome
normal, is usually short of the predicted target height based on
Skeletal dysplasia, e.g. hypochondroplasia, achondroplasia,
parental stature. Management includes an explanation to the
spondylo-epiphyseal dysplasia parents of the natural growth pattern and the reasonable height
prognosis of such children. Short courses of oxandrolone or
short stature and an extremely low GH response to GHRH, testosterone can be used if short stature or lack of sexual
low serum IGF-1 and IGFBP-3 levels (see below). The development is causing significant psychosocial difficulties,
causes of growth failure are shown in Table 21.4. Idiopathic but GH treatment is not indicated.
short stature accounts for 6080% of children with a height Growth hormone has been approved for treatment of
below 2 SD and includes constitutional delay in growth and GH deficiency, short stature associated with chronic renal
puberty (CDGP) and familial short stature. failure, Turner syndrome, Prader-Willi syndrome, small for
gestational age (SGA) children who have not caught up in
Assessment of Short Stature growth by 34 years of age and idiopathic short stature. The
The height, span, upper to lower (U/L) segment ratio and recommended growth hormone dosage is 0.7 IU/kg/week
previous growth record are important auxiological data. (GHD) to 1.21.4 IU/kg/week in short SGA children divided
Disproportionate short stature is indicative of skeletal into 57 doses per week. The improvement in adult height
dysplasia. Initial investigations should include full blood is most significant in patients with GH deficiency and early
count, sedimentation rate, serum calcium, phosphate, diagnosis and prompt treatment will improve the final height.
alkaline phosphatase, IGF-1, renal and liver function tests, A dose of GH in the range of 1 unit/kg per week in divided
acid-base status, thyroid hormone, thyroid-stimulating doses is used for the treatment of Turner syndrome, chronic
hormonal and X-ray for bone age. A short child with renal failure and idiopathic short stature. The GH dosage can
normal growth velocity and no bone age delay and a plasma be individualised and adjusted to keep the serum IGF-1 level
IGF-1 level above the mean for age, does not require GH in the age-specific upper normal range. An improvement in
testing. If the serum IGF-1 and IGFBP-3 are lower than the height velocity of at least 3 cm per year above the pre-
1 SD for age in a child with significant short stature and treatment growth velocity or height velocity greater than +1
subnormal growth velocity, then the GH/IGF-1 axis should SD is needed to justify continuation of treatment. Recently,
be investigated. GH deficiency is diagnosed by an inadequate short children with the exon 3-deleted GH receptor variant
GH response of less than 20 mIU/L measured by a polyclonal had been shown to have a better growth response to GH
radioimmunoassay (RIA) or an equivalent lower value using treatment but this observation has not been universally
a two-site GH immunoassay, to two pharmacological stimuli replicated by other authors. The growth, skeletal maturation,
like clonidine, L-dopa, arginine, glucagon, GHRH or insulin pubertal assessment and possible side effects must be regularly
induced hypoglycaemia. The latter test is not favoured by monitored during GH treatment. GH treatment in childhood
some paediatric endocrinologists and should not be used is relatively safe. There was a concern that GH therapy in
in children under 5 years and of age. Assessment of the GH deficiency increased the risk of leukaemia and tumour
hypothalamic-pituitary adrenal axis and the gonadotrophins recurrence but this fear has not been substantiated in recent
and TSH responses to their respective hypothalamic-releasing well-conducted epidemiological studies. There is a risk of
hormone should be performed when pituitary dysfunction is worsening of scoliosis or the development of slipped capital
suspected (glucagon and LHRH and TRH test). It is important femoral epiphysis in the rapidly growing child treated with
that hypothyroidism be diagnosed and adequately treated GH. GH therapy could be associated with insulin resistance
before any investigation of the GH/IGF-1 axis. Adrenal and there is one recent report to suggest an increased risk of
insufficiency is diagnosed when the plasma cortisol fails to development of type 2 diabetes mellitus (T2DM) in children
reach 500 nmol/L in response to glucagon or insulin induced treated with GH. Pseudotumour cerebri can rarely occur
hypoglycaemia. Neuroimaging with MRI is indicated in during the early phase of GH treatment and this risk can be
438 Hutchison's Paediatrics
minimised by starting GH at a lower dose and then increase Skeletal features of Marfan syndrome include pectus
to the recommended dose gradually. excavatum or carinatum, scoliosis, reduced U/L segment
In patients with multiple pituitary hormone deficiency, ratio and a span to height ratio greater than 1.05. Other
GH treatment may unmask hypothyroidism. It is necessary to features include ectopia lentis, dilatation of the ascending
monitor the thyroid function during GH treatment and to start aorta or pulmonary artery, mitral valve prolapse, spontaneous
thyroxine replacement if low free thyroxine level is detected. pneumothorax and lumbosacral dural ectasia. A positive
As glucocorticoid in higher doses may inhibit growth, a safe family history (autosomal dominant inheritance) is helpful
low replacement dose of oral hydrocortisone of 810 mg/ in the diagnosis. Marfan syndrome is due to mutation in
m2 per day in two divided doses should be used in children the fibrillin gene (FBN1) on chromosome 15q21.1 or rarely
with adrenal insufficiency in addition to GH deficiency. mutation in transforming growth factor beta receptor 2
Gonadotrophin deficiency can be suspected if there is (TGFB2) on chromosome 3p22.
micropenis since infancy in a male patient or failure to develop Assessment of children with tall stature includes
secondary sexual characteristics by 13 years in girls or 14 identification of syndromal disorders. The pubertal status,
years in boys. Patients with hypogonadism can also present parental stature, thyroid status and body mass index should
with arrest or delay in progress of sexual development. be noted. GH excess usually resulting from a GH-secreting
Puberty can be induced in boys with monthly intramuscular pituitary tumour, leads to growth acceleration, coarse facial
injections of testosterone enanthate. In females, puberty can features, prognathism and enlarging hands and feet. Glucose
be induced with conjugated oestrogen (premarin) or synthetic intolerance or hypertension may occur. A large pituitary
oestrogen (ethinyl oestradiol) in gradual increasing dosages tumour can cause visual field defects and headache. GH
and cyclical oestrogen/progestogen replacement be instituted excess is occasionally associated with the McCune Albright
after 1 or 2 years. syndrome. Further investigations include measurement
of thyroid hormone, testosterone, oestradiol, LH, FSH,
TALL STATURE prolactin, IGF-1, 17-hydroxyprogesterone (17-OHP).
The referral of children with tall stature to the endocrine The failure of suppression of the serum GH level below
service is not common and the patients are usually very tall 10 mIU/L during an oral glucose tolerance test (1.75 g/kg
girls who are worried about their heights. The causes of tall to a maximum of 75 g) remains the gold standard for the
stature are shown in Table 21.5. diagnosis of GH hypersecretion. Karyotyping, X-ray for
Beckwith-Wiedemann syndrome is characterised skeletal maturation and MRI scan of the brain and pituitary
by prenatal and postnatal overgrowth, visceromegaly, should be performed where indicated.
omphalocoele, hemihypertrophy and neonatal hypoglycaemia. Girls may seek treatment and those with a predicted
This condition is due to epigenetic errors of the imprinted gene final adult height greater than +3 SD could be considered
cluster on chromosome 11p15 or mutations of cyclin-dependent for hormonal therapy (100300 mg ethinyl oestradiol or 7.5
kinase inhibitor gene (CDKN1C) on chromosome 11p15. mg premarin combined with medroxyprogesterone acetate
Patients with Sotos syndrome have macrodolichocephaly 510 mg from day 15 to day 25 of each calendar month).
with prominent forehead and jaw and a characteristic growth Testosterone enanthate 2501,000 mg intramuscularly every
pattern of rapid growth in early life followed by slowing of the month can be used to accelerate skeletal maturation and
growth velocity to normal by mid-childhood. Sotos syndrome reduce final height in tall boys. However, the use of sex
is due to microdeletion of paternal chromosome 5 in the region hormone therapy for limiting adult height should be reserved
of the nuclear receptor binding SET-domain containing gene 1 for selected patients because knowledge in potential long-term
(NSD1) or intragenic mutation of NSD1. Epigenetic mutations effects and fertility is still scanty. Calf cramps and weight
in the imprinted gene cluster on chromosome 11p15 have been gain are the common side effects of high dose oestrogen in
found in patients with the Sotos phenotype without NSD1 girls. In boys, acne, aggressive behaviour and hypertrichosis
mutations. This suggests that an overlap of the molecular basis are the common complaints. For the other secondary causes
of overgrowth syndrome exists. of tall stature, treatment should be directed at the underlying
condition. A pituitary GH-secreting tumour is managed by
Table 21. 5: Causes of tall stature trans-sphenoidal surgery.
Prenatal overgrowthBeckwith-Wiedemann syndrome, Sotos
syndrome, Weaver syndrome OBESITY
Postnatal overgrowthfamilial tall stature, Marfan syndrome,
homocystinuria, Klinefelter syndrome In 1997, the World Health Organisation (WHO) press
Secondary causesobesity, precocious puberty, GH-secreting release declared that Obesitys impact is so diverse
tumour, hyperthyroidism and extreme that it should now be regarded as one of
Endocrine Disorders 439
the greatest neglected health problems of our time with as an adult whereas obese adolescents are at increased risk
an impact on health which may well prove to be as great of developing adult obesity. The doctor should be able to
as that of smoking. The prevalence of obesity is on the identify obesity related syndromes and to monitor for and
rise in both developed and developing countries. There is treat any obesity related complications developing in these
currently no consistent evidence that the current epidemic obese children. Investigations to exclude a pathological
of obesity is due to increased fat or caloric intake. There cause should be undertaken if there is severe early onset of
is an enormous range of energy intakes by children of the obesity or when obesity is associated with short stature or
same age and there is little correlation between intake for features suggestive of a syndromal disorder, e.g. Prader-
age and weight for height for age. Technological advances Willi syndrome, pseudohypoparathyroidism, glucocorticoid
have caused a marked reduction in the average daily energy excess, hypothalamic syndrome and Bardet-Biedl syndrome.
expenditure and it appears to be the key determinant of the A preventive programme needs to have commitment from
current obesity epidemic. Television viewing and use of the all stakeholders and be directed at the whole population. The
computer for leisure have now been viewed as surrogate preventive messages must be free from harm to those in the
measures of physical inactivity. As much as 28% and 46% community who are not obese. Prevention should be directed
of all children and non-Hispanic black children in the United towards developing a healthier lifestyle in the family and
States NHANES III survey reported watching television the community like increased physical activity, decreased
greater than 4 hours per day. The best estimate of genetic dependence television and computer games for entertainment,
contribution to obesity is about 25% whereas cultural and healthy eating. As children spend a significant part of
transmission of lifestyle accounting for obesity is estimated the day at school, much can be done by schools to combat
to be about 30%. As of October 2005, 176 cases of obesity this epidemic by health education, providing healthy snacks,
due to mutations in eleven different genes have been reported drinks and meals at school, and encouraging increased
and the molecular basis of at least 25 obesity syndromes is physical activity and fitness.
now known. There are 253 quantitative trait loci (QTLs) for Once a child has developed significant obesity, measures
obesity-related phenotypes from 61 genome-wide scans and to encourage weight loss and weight maintenance have
of these 52 genomic regions harbour QTLs replicated among proved disappointing in achieving these aims. Education on
two to four studies (The Human Obesity Gene Map: the 2005 the nature and complications of obesity, healthy eating and
update). The complications of childhood obesity are show in lifestyle and psychological support on a regular basis by a
Table 21.6. team of professionals consisting of paediatricians, dietitian,
The increase in the prevalence of obesity has been exercise physiologist and psychologist have frequently been
associated with a similar increase in the prevalence of type 2 suggested but the cost-effectiveness and sustainability of such
diabetes in many countries. It is recommended that screening programmes have been called into question. Pharmacotherapy
for T2DM be performed every 2 years in obese children should be restricted to treat the most severe cases of obesity
and adolescents who have acanthosis nigricans, a family associated with complications. Sibutramine, acarbose and
history of type 2 diabetes and evidence of insulin resistance orlistat are drugs that can be considered. Bariatric surgery
(acanthosis nigricans, hypertension, dyslipidaemia, and employing roux-en-y gastric bypass or adjustable gastric
polycystic ovary syndrome). banding has been increasingly used to treat patients with
Obese infants and children under the age of 3 years morbid obesity and severe medical complications.
without obese parents are at low-risk of becoming obese
Table 21.6: Complications of childhood obesity THYROID GLAND
Insulin resistance and type 2 diabetes mellitus Disorders of the thyroid gland are, with the exception of
Hyperlipidaemia diabetes mellitus, the most common endocrine problems
Hypertension of childhood. The advent of immunoassay techniques
Steatohepatitis has been followed by a vast increase in our knowledge of
Respiratory inadequacy including obstructive sleep apnoea the physiology and disturbances of thyroid function and
syndrome
molecular mechanism of disease.
Musculoskeletal problems including slipped capital femoral
epiphysis, genu valgum
Tall stature and early puberty
Hypothyroidism
Gynaecomastia or adipomastia A classification of the causes of hypothyroidism is shown in
Oligomenorrhoea and hyperandrogenism Table 21.7. It is designed upon an aetiological basis which
Psychological sequence like poor self-image, disordered eating will permit the clinician to systematically approach diagnosis
and nonspecific behaviour disturbances and treatment. Of the various causes of hypothyroidism
440 Hutchison's Paediatrics
Table 21.7: A classification of hypothyroidism in childhood TSH hypersecretion and increased iodine trapping with goitre
D ysgenesis of the thyroid gland (may present as congenital and raised plasma T3:T4 ratio. Iodine deficiency in utero
hypothyroidism or juvenile myxoedema in childhood in milder results in increased perinatal mortality, risk of abortion and
cases) congenital anomalies, neurological cretinism (development
Congenital athyreosis delay, deafness, spastic diplegia, squint) or myxoedematous
Maldescent cretinism (developmental delay and dwarfism). Iodine
Maldevelopment deficiency in the neonate leads to neonatal goitre, congenital
Deficiency of iodine (endemic cretinism) hypothyroidism and hyperthyrotropinaemia. Iodine deficiency
Genetic basis of congenital hypothyroidism in childhood can manifest as retarded growth and development
Mutations in transcription factors resulting in thyroid and goitrous hypothyroidism. In a recent meta-analysis of
dysgenesis (FOXE1, PAX8, NKX2.1)
studies in China on the effects of iodine on intelligence, it
Mutations in the monocarboxylate transporter 8 gene (MCT8
was found that there was an IQ difference of 12.45 points
or SLC16A2)
Dyshormonogenesis
in children living in iodine deficient areas as compared to
Hyporesponsiveness to TSH (TSHR or GNAS1 mutations)
those living in iodine sufficient areas. Neonatal serum TSH
Iodide transport defects (mutations in natrium-iodide
is included by WHO, UNICEF and ICCIDD in 1994 as one
symporter gene SLC5A5) of the indicators for iodine deficiency disorders. If 319.9%
Thyroglobulin synthesis defects (defective TG gene) of the neonatal TSH values exceed 10 mIU/L, mild iodine
Iodide organification defects (mutations in thyroperoxidase deficiency exists in that community. Regional differences
gene TPO or genes of dual oxidase proteins DUOX1 and in the incidence of congenital hypothyroidism could be due
DUOX2) to differences in population iodine intake. The prevalence
Pendred syndrome (SLC26A4 gene and FOXI1 gene of goitre in the childhood community is also an indicator
mutations)
of iodine nutrition status. Iodination of salt supplies can
Dehalogenase defects (mutations in iodothyrosine deiodinase
gene IYD) effectively reduce the prevalence of this condition.
Thyroid hormone resistance (thyroid hormone receptor gene TR
mutations) Congenital Hypothyroidism
Ingestion of goitrogens (accidental or therapeutic) Apart from the rare genetic causes of thyroid dysgenesis,
Antenatal (iodine, thionamides in pregnancy) the causes of thyroid dysgenesis in which thyroid tissue may
Postnatal (iodine-containing radiographic contrast medium, be absent (aplastic), deficient (hypoplastic) or abnormally
amiodarone)
sited (ectopic) are unknown but affect about 1 in 3,600 of
Primary thyroid disease, e.g. autoimmune thyroiditis, carcinoma,
etc.
all newborns and more commonly affect female infants.
Pituitary hypothyroidism
Dyshormonogenesis (inborn errors of thyroid hormone
Malformation of the brain, e.g. holoprosencephaly biosynthesis) accounts for about 10% of all cases of
Mutations of pituitary transcription factors congenital hypothyroidism, i.e. 1 in 40,000. These autosomal
Secondary to disruption of the hypothalamus-pituitary-thyroid recessively inherited disorders may present with goitre.
axis, e.g. tumour, infection, irradiation, haemosiderosis Clinical features: The diagnosis of severe congenital
hypothyroidism should not be difficult. Indeed, the
in childhood only endemic iodine deficiency, congenital manifestations are present within a few days of birth. The
hypothyroidism and autoimmune thyroiditis will be described presenting symptoms which are usually mild consist of feeding
in this chapter. difficulties, skin mottling, noisy respiration and constipation.
The undue prolongation of physiological jaundice should
Endemic Iodine Deficiency
always arouse the suspicion of hypothyroidism. The
Iodine deficiency is now recognised as the most common appearance of the infants is typical if they remain undiagnosed
preventable cause of mental retardation in the world today. after 34 months of age. The facial features are coarse with
If the foetus and developing children in a community are often a wrinkled forehead and low hairline. The posterior
not provided with sufficient quantities of iodine, the entire fontanelle remains patent in early infancy. The hair may be
population will have decreased intelligence quotient (IQ), dry and scanty. The large myxoedematous tongue protrudes
impaired motor function and hearing defect. The WHO from the mouth and interferes with feeding and breathing
estimates that there are still over 100 countries in our world (Fig. 21.2). The cry has a characteristic hoarseness. The neck
with a significant problem with iodine deficiency. In areas of appears short due to the presence of myxoedematous pads of
the world where iodine deficiency is found, up to 8% of the fat above the clavicles. The skin, especially over the face and
population may have deficient thyroid hormone production, extremities, feels dry, thick and cold. An umbilical hernia is
Endocrine Disorders 441
autoimmune thyroid disease have been identified by linkage thyrotoxic autoimmune encephalopathy presenting with
analysis using the genome scan approach. profound personality change, bizarre motor automatism and
About 8595% of cases of hyperthyroidism are due seizures. Thyrotoxic periodic paralysis is rare in Caucasians
to Graves disease and other causes include thyroiditis, but occurs in 2% of Chinese and Japanese thyrotoxic patients
hyper-functioning thyroid adenoma, germ-line activating with a strong male predominance.
TSH receptor mutation, McCune Albright syndrome,
pituitary resistance to thyroid hormone and iodine induced Diagnosis
hyperthyroidism. This is usually obvious on simple clinical observation.
The most reliable biochemical feature is an elevated total
Clinical Features and free serum T3 and T4 levels with suppressed TSH
The disease is more common in girls and rare before the age documented with a suprasensitive TSH assay. Both thyroid-
of 7 years. The parents may bring their child for medical stimulating antibody (TSAb) and thyroid-blocking antibody
advice with a variety of symptoms, such as irritability, (TBAb) epitopes are close together and are both detected
fidgetiness, deterioration in school performance, loss in the commercially available thyroid-binding inhibiting
of weight in spite of good appetite, excessive sweating, immunoglobulin (TBII) assays. TSAb bioassays are limited
palpitations or nervousness. The child looks thin, and often to specialised centres. TBIIs are disease-specific and are
startled due to her stare and wide palpebral fissures. There never present in normal euthyroid individuals. TBIIs are
may be obvious exophthalmos (Fig. 21.4). Other eye signs present in 8090% of children with Graves disease. ELISA
include lid retraction, lid lag and ophthalmoplegia. There assays for human auto-antibodies against thyroid-stimulating
may be conjunctival injection because of exposure due to the hormone receptor (TRAb) are also available as commercial
proptosis. The skin will be flushed, warm and moist. A fine assay kits. The antithyroglobulin and thyroid antimicrosomal
tremor of the outstretched fingers is common. The abnormal antibodies are present in 68% of paediatric patients.
cardiovascular signs in the child include sinus tachycardia,
raised systolic blood pressure and a large pulse pressure. The Treatment
thyroid gland is visibly enlarged and feels soft. A bruit may A trial of medical treatment with antithyroid drug (ATD)
be audible over the gland. Emotional liability is frequently should always be made with the objective of rendering
very obvious. Menstruation may be delayed or irregular the patient euthyroid for 2 years before drug therapy
in untreated adolescent girls and growth acceleration is is withdrawn. Carbimazole (0.5 mg/kg per day in two
commonly seen at diagnosis. Neuropsychiatric complications divided doses) and methimazole (10 mg carbimazole = 6
include attention deficit, emotional liability, delusion and mg methimazole) are the drugs of choice. Propylthiouracil
should no longer be used for the treatment of thyrotoxicosis
in children because between 1970 and 1997, 34 of the 48
adverse events reported on ATD received by the Food and
Drug Administration (FDA) of USA were related to PTU
and the risk of PTU-induced liver failure leading to liver
transplantation is estimated to be 1:4,000. After treating
children for about 4 weeks, the dose can often be reduced
according to the clinical state of the child and the T4 and
T3 levels. An alternative approach would be the block-
replace regime by maintaining the same suppressive doses
of thionamides but adding a suitable replacement dose of
thyroxine daily to maintain the serum T4 in the normal range.
The advantage of this regime is the lower risk of fluctuations
of thyroid hormone levels and fewer blood tests in the
children under treatment. A recent meta-analysis revealed
higher adverse events in adult thyrotoxic patients on block-
replace regime as compared to those on titration regime with
no difference in relapse rate and the optimum duration of
treatment is 1218 months. Another large study from Japan
Fig. 21.4: Thyrotoxicosis showing exophthalmos, reported that the rate of agranulocytosis and neutropenia was
lid retraction and goitre 1.58% in the high ATD dose group versus 0.47% in the low
Endocrine Disorders 445
Mediterranean basin, hypoparathyroidism can result from due to maternal transmission of GNAS1 mutation. The
haemosiderosis in transfusion-dependent thalassaemia major serum PTH levels are markedly elevated in the presence of
patients. A rare autoimmune polyendocrine syndrome due hypocalcaemia, hyperphosphataemia and the phosphaturic,
to mutations in the autoimmune regulator gene (AIRE) can and cyclic adenosive monophosphate (CAMP) responses to
result in hypoadrenalism which develops in childhood and PTH are blunted. The biochemical abnormalities usually
is associated later with hypoadrenocorticism, and sometimes present at a mean age of 8 years.
with steatorrhoea, pernicious anaemia, diabetes mellitus or
elevated sweat electrolytes; moniliasis frequently precedes Treatment
the endocrine manifestations. Rarely hypoparathyroidism
The immediate treatment for tetany is a slow intravenous
can result from mitochondrial cytopathy. Apart from
injection of 10% calcium gluconate, 0.3 ml/kg after
transient neonatal hypoparathyroidism due to maternal
dilution over several minutes, repeated every few hours
parathyroid disease, congenital hypoparathyroidism can be
as necessary. For long-term treatment, alfa-calcidol
due to dysgenesis of the parathyroid gland, familial forms of
(1a-hydroxyvitamin D3; 1a-OHD3) 50100 ng/kg or
disease (antosomal recessive, autosomal dominant, X-linked
calcitriol (1,25-dihydroxyvitamin D 15 ng/kg per day)
recessive), heterozygous gain-of-function mutations of the
are preferred due to their shorter half-life. The dosage of
calcium-sensing receptor gene (CASR) or the DiGeorge
the vitamin D should be adjusted to maintain the serum
syndrome (thymus hypoplasia, hypoparathyroidism,
calcium in the low normal range without tetany or inducing
malformations of the outflow tracts of the heart) due
hypercalciuria (spot urine calcium to creatinine ratio >0.7
to microdeletion of chromosome 22q11. Familial
mmol/mmol). The patient should be monitored for the
hypoparathyroidism may be associated with sensorineural
development of subcutaneous calcification, nephrocalcinosis
deafness and renal anomalies (haploinsufficiency of GATA3).
and intracranial calcification.
Clinical Features
Hyperparathyroidism
The diagnosis of hypoparathyroidism is not difficult when a
Hypercalcaemia due to adenoma or hyperplasia of the
child presents with recurrent tetany. Other symptoms include
paraesthesia (pins and needles), muscle cramps and parathyroid glands are very rare in childhood. Neonatal
carpopedal spasm. Chvostek and Trousseau signs may be primary hyperparathyroidism is caused by homozygous or
elicited. More often the outstanding feature is the presence compounded heterozygous mutations of the CASR and is
of recurrent convulsions when an erroneous diagnosis associated with hypotonia, anorexia, respiratory distress,
of epilepsy may easily be made. Newborn infants with dehydration and a high mortality. Urgent parathyroidectomy
hypoparathyroidism presents with jitteriness or convulsions. is required. In older children, parathyroid tumour leading
Some affected children have also been mentally retarded to hyperparathyroidism can be associated with multiple
and intracerebral calcification may occur. Useful diagnostic endocrine neoplasia syndrome type I (parathyroid,
clues are delay in the second dentition and defective enamel, pancreatic, pituitary tumours due to mutation in MEN
ectodermal dysplasia and deformed nails, loss of hair, and I gene) or multiple endocrine neoplasia type II (MTC,
moniliasis in the mouth or nails. Cataract develops later in phaeochromocytoma, parathyroid tumour due to mutations
50% of cases. The characteristic biochemical changes are a in the RET proto-oncogene).
low serum calcium (below 2.25 mmol/L) and raised serum
phosphate (above 2.25 mmol/L) and normal serum alkaline Clinical Features
phosphatase and low PTH levels by RIA in the absence of In older children with hyperparathyroidism, bone pains and
rickets, renal disease and steatorrhoea. The urine calcium muscular weakness are the first symptoms. Peptic ulceration
concentration is low but hypercalciuria is present if the is unduly frequent in these patients. Anorexia, polyuria,
patient has a gain of function mutation of CASR. polydipsia, vomiting, and severe constipation are common
Pseudohypoparathyroidism gives rise to a very similar and attributable to the hypercalcaemia. The bone changes of
clinical presentation, hypocalcaemia and hyperphosphataemia, osteitis fibrosa cystica are found. These include osteoporosis
but in addition, some patients have features of Albright with patches of osteosclerosis. This produces a characteristic
hereditary osteodystrophy (AHO), a stocky figure with granular mottling or discrete rounded translucent areas in
dwarfism and a rounded face, brachydactyly with shortening radiographs of the skull. Similar appearances are commonly
of the metacarpals and metatarsals of the first, fourth and fifth found in the clavicles and iliac bones. Pathognomonic
fingers and toes, subcutaneous calcification, developmental changes are frequently seen in the terminal phalanges of
delay and obesity. Pseudohypoparathyroidism type 1a is the hands where there is subperiosteal resorption of bone
Endocrine Disorders 447
with a crenellated appearance. The lamina dura, a dense Table 21.8: Clinical features of rickets
line of alveolar bone surrounding the roots of the teeth, Expanded wrist, knee and ankle joints
disappears. A giant-cell tumour (osteoclastoma) may appear Rachitic rosary (swelling of costochondral junctions of the anterior
as a multilocular cyst on radiographs of the mandible or long chest cage)
bones. Occasionally the presenting sign is a pathological Bowing deformity of lower limbs in weight-bearing children
fracture at the site of such a tumour. Hypercalcaemia can Craniotabes
lead to nephrocalcinosis and renal calculi. Hypotonia, muscle weakness and delayed motor development
The most common biochemical features are a raised serum Enamel hypoplasia and delayed tooth eruption
calcium level (over 2.74 mmol) and lowered serum phosphate
(below 1 mmol). These values fluctuate and several estimations vitamin D intake without adequate exposure to sunlight. Dark
in the fasting patient at intervals may be required before the skinned infants breastfed by vitamin D deficient mother who
diagnosis is confirmed. The plasma alkaline phosphatase is remain covered for cultural reasons, are particularly at risk.
frequently but not invariably raised. There is an increased The American Academy of Paediatrics recommends that
urinary output of calcium (over 10 mmol/24 hours while on infants, children and adolescences should have a minimum
an ordinary diet). This observation should be followed by daily vitamin D intake of 200 IU per day. Low calcium,
estimating the 24-hour calcium output on a low-calcium diet high oxalate and phytate intake in Asian diet contribute to
(120 mg/day); an output in excess of 4.5 mmol/24 hours is nutritional rickets. The clinical features of rickets are shown
abnormal. When the kidneys have been severely damaged by in Table 21.8.
nephrocalcinosis a high serum phosphate level may simulate The biochemical abnormalities in nutritional rickets
secondary hyperparathyroidism. In children, however, renal include hypocalcaemia, hypophosphataemia, elevated
osteodystrophy includes the changes of rickets which are rare PTH and alkaline phosphatase levels in the blood. The
in primary hyperparathyroidism. Furthermore, hypocalciuria 25-hydroxyvitamin D level is less than 50 nmol/L.
is the rule in renal failure, but hypercalciuria usually persists Radiologically, there is cupping and fraying of the metaphyses
in primary hyperparathyroidism even when there is severe of the long bones and osteopenia. Treatment with vitamin
renal damage. D 3,000 IU daily for 3 months and maintenance of a daily
vitamin D intake of 400 IU daily should be continued.
Treatment In most developed countries, the most common form of
Severe hypercalcaemia can be treated with intravenous fluid rickets is X-linked familial hypophosphataemia rickets which
together with a loop diuretic and intravenous pamidronate is caused by loss of function mutation of the phosphate-
infusion. The parathyroid tumour or hyperplastic glands regulating gene with homologies to endopeptidases on the
should be removed surgically. Transient postoperative tetany X-chromosome gene (PHEX). The incidence is reported to
is common and best treated with frequent intravenous doses be 1 in 25,000. Apart from clinical features of rickets, these
of calcium gluconate. The results of operation are excellent patients present with short stature, bone pain, join stiffness,
provided the diagnosis has preceded irreversible damage to dental abscess but craniotabes and muscle weakness are
the kidneys. not present. The clinical expression is variable and male
patients are more severely affected than heterozygous
RICKETS females. Biochemical abnormalities include low normal
Rickets and osteomalacia are the consequences of decreased serum calcium, low serum phosphate and elevated alkaline
mineralisation of the bone osteoid caused by deficiencies phosphatase levels. The serum PTH and vitamin D levels are
of calcium, phosphate or vitamin D. Rickets in childhood normal but the 1,25(OH)2D3 concentration is inappropriately
can be due to nutritional deficiency of vitamin D from low low for the degree of hypophosphataemia. The urine calcium
intake or disordered absorption of fat soluble vitamins due concentration is normal and there is no amino aciduria. The
to diseases of the hepatobiliary and gastrointestinal systems. urine hydroxyproline is increased. Nephrocalcinosis is a
The condition could also result from renal tubular disorders, common complication and is due to deposition of calcium
X-linked familial hypophosphatamic rickets or to genetic and phosphate in the kidneys and it has been shown to have
defects like loss of function mutation of the genes for VDR a stronger link with phosphate dosage and urine phosphate
or 25-hydroxyvitamin D3 1-hydroxylase (CYP27B1). excretion. Treatment include phosphate supplement (not more
Nutritional rickets has emerged again as a paediatric health than 70 mg/kg per day) and rocaltrol (2060 ng/kg per day)
issue in several parts of the world. The vitamin D intake in and regular monitoring is required to avoid hypercalcaemia,
most adults should be more than 200 IU per day and pregnant hypercalciuria (calcium/creatinine ratio > 0.7 mmol/mmol)
and lactating women would not meet the recommended daily and nephrocalcinosis.
448 Hutchison's Paediatrics
years in boys. The dose of oestrogen (2.5 mg of ethinyl Table 21.11: Causes of precocious puberty
oestradiol daily or premarin 0.3 mg alternate days) can be Gonadotrophin dependent or central precocious puberty
progressively increased over 2.53 years. Cyclical oestrogen Idiopathic
and progestogen (medroxyprogesterone acetate 510 mg Intracranial tumours: hypothalamic hamartoma, pineal region
daily for 710 days of each monthly cycle) should be tumour, tumour in posterior hypothalamus, germinoma,
initiated when the dose of oestrogen has reached 1520 mg craniopharyngioma (rare), optic nerve glioma.
of ethinyloestradiol or 0.625 mg of premarin daily or when Cranial irradiation
break through bleeding occurs. In boys, puberty can be Head trauma
induced by oral testosterone undecanoate or more commonly Neurological disorders: hydrocephaly, intracranial infection,
cerebral palsy, epilepsy
by monthly intramuscular injection of testosterone enanthate,
Hypothyroidism
starting from 50 mg per month and slowly increasing to
Neurofibromatosis type 1
250 mg every month over a period of 34 years. Intramuscular
Gonadotrophin independent sexual precocity
testosterone can be associated with mood swings and cyclical
McCune Albright syndrome
aggression and depression. Testesterone subcutaneous
Familial testotoxicosis
implants can provide a much steady testosterone level over the
Pseudoprecocious puberty
months. It is now possible to restore menstruation and induce
Congenital adrenal hyperplasia
ovulation in females and induce puberty and spermatogenesis
Oestrogen or androgen-secreting tumours from the gonads or
in males with hypogonadotrophic hypogonadism by pulsatile adrenal glands
administration of GnRH with a portable pump or by sequential HCG-secreting tumour (boys)
treatment with parenteral human chorionic gonadotrophin Autonomously functioning ovarian cysts in girls
and recombinant human FSH. Incomplete precocious puberty
Premature thelarche
Precocious Puberty Premature adrenarche
Pubertal development in girls have been reported to occur
Patients with true precocious puberty have rapid physical
earlier in recent years in many populations but there has been
growth and advanced skeletal maturation. In addition to the
a less dramatic change in the age of onset of menarche. The
development of secondary sexual characteristics, behavioural
age of onset of puberty in boys has not advanced significantly
change like emotion liability and aggression may occur.
in recent years. Precocious puberty is defined as breast
The behaviour of children with precocious puberty is more
development before the age of 7 years and menstruation
appropriate to their chronological age rather than the degree
before the age of 10 years in girls and testicular or penile
of sexual development. Other changes include increased
enlargement before the age of 9 years in boys. The causes of
sebaceous gland secretion (greasy skin and hair), acne and
precocious puberty are shown in Table 21.11.
body odour. Children with precocious puberty who are
Clinical Features untreated usually have an increased U/L segment ratio. Most
cases of precocious puberty in girls are idiopathic but about
In premature thelarche, there is isolated development of the 510% of girls and 40% of boys with precocious puberty
breasts without significant acceleration of growth or skeletal have an occult or known intracranial pathology.
maturation or the development of other secondary sexual Patients with the McCune Albright syndrome have the
characteristics. The condition frequently occurs in the first characteristic triad of irregular caf-au-lait pigmentation,
18 months of life. There may be fluctuations of the breast gonadotrophin independent sexual precocity and polyostotic
size but the condition is not progressive. Occasionally non- fibrous dysplasia but sometimes, the complete triad is
progressive breast development can occur in girls in the not present. The condition is due to a somatic activating
peripubertal age group (57 years of age) and the condition mutation of the GNAS1 gene. The patients typically have
is sometimes referred to as thelarche variant but should be breast development due to oestrogen production from an
distinguished from the early stage of central precocious autonomously functioning ovarian cyst. When the cyst
puberty. Premature adrenarche refers to early isolated ruptures, menstruation occurs as a result of acute oestrogen
development of sex hair without other signs of puberty. withdrawal.
Premature adrenarche are more prevalent in African Familial testotoxicosis is inherited in an autosomal
Americans and East Asian Indians. Care must be taken dominant male limited fashion. There is autosomal dominant
to exclude the possibility of late-onset congenital adrenal presentation of early sexual development in males of the
hyperplasia (CAH) or androgen-secreting tumour from the affected families. The condition manifests itself usually by
adrenal glands or gonads. 23 years of age and is due to activating mutations of the
450 Hutchison's Paediatrics
luteinising hormone receptor gene. Females carrying the Table 21.12: Investigations for precocious puberty
mutation will not develop precocious puberty. There is some
B aseline oestradiol or testosterone, LH, FSH levels and the LH
seminiferous tubule development and spermatogenesis due to
and FSH response to GnRH (2.5 mg/kg intravenously)
the high intratesticular concentrations of testosterone present
X-ray for bone age
in affected patients even though the gonadotrophin levels are Ultrasound examination of the pelvis in girls for ovarian volume
suppressed. and cysts, uterine size, and cervix to uterus ratio
A germ cell tumour producing HCG can lead to Magnetic resonance imaging of the brain
pseudoprecocious puberty in boys only. However, germ Investigations for involvement of other pituitary hormones where
cell tumours can also cause true precocious puberty due to indicated: fT4, TSH, prolactin levels, and cortisol and GH reserve
the location of the tumour in the posterior hypothalamus
distorting the hypothalamic gonadostat. An autonomously predicted height. It is important for clinicians to be aware
functioning ovarian cyst producing oestrogen can cause that slowing progressive variants of precocious puberty
premature breast development. These cysts should be exist and these children do not need treatment. Such patients
distinguished from juvenile granulosa tumours of the ovaries have a slow tempo of pubertal development, no significant
by serial ultrasound assessment. Persistence of cystic lesions skeletal maturation and they have a satisfactory predicted
with a significant solid component and persistent elevation adult height. When GnRH-analogue treatment is stopped at
of serum oestradiol concentration for more than 3 months 1112 years of age, pubertal development returns. Fertility
should alert the doctor to the possibility of an ovarian tumour. is not usually affected but treated girls may have a slight
CAH can cause isosexual pseudoprecocious puberty in boys increased risk of developing polycystic ovary syndrome.
and heterosexual pseudoprecocious puberty in girls (refer Patients with gonadotrophin independent precocious
to subsequent section of this chapter). Differentiation of puberty require treatment with an aromatase inhibitor
virilisation due to CAH from an adrenal tumour is important in girls or drugs that blocks testosterone biosynthesis in
in virilised patients. boys. Treatment with tamoxifen and letrozole has been
shown to significantly decrease the growth rate, bone age
Investigations advancement and progress of puberty in girls with McCune
Suggested investigations and interpretation of the hormonal Albright syndrome. However, an increased ovarian volume
tests are shown in Tables 21.12 and 21.13 respectively. with treatment in these girls has raised some concern. A
combination of spironolactone and testolactone has been used
Treatment to treat boys with familial testotoxicosis with some success.
The underlying condition leading to pseudoprecocious
Patients with precocious puberty are at risk of being short puberty should be managed appropriately.
as adults due to early skeletal mutation. The suggested
indications for GnRH-analogue treatment for children
ADRENAL GLAND
with central precocious puberty are shown in Table 21.14.
Treatment with a long-acting GnRH analogue given either Adrenal steroidogenesis is controlled by a number of
monthly or 3 monthly offers the greatest advantage for those cytochrome P450 and hydroxysteroid dehydrogenase
children in whom the onset of puberty occurs at a very early enzymes (Fig. 21.6). The adrenal cortex produces cortisol,
age (<6 years), those who demonstrate rapidly accelerating mineralocorticoid (aldosterone) and sex steroids (androgens)
bone age and those with lower genetic height potential or whereas the adrenal medulla secretes adrenaline,
those with the largest difference between the target and noradrenaline, catecholamines and dopamine.
Cushings Syndrome age and 40% are malignant. Pseudo-Cushingoid states can be
due to stress, depression and alcoholism.
Cushings syndrome in children is commonly iatrogenic in
nature due to steroids given by the oral, topical or inhalational Clinical Features
routes. Rarely steroid excess state can become manifest
due to adrenal tumour, primary pigmented nodular adrenal The clinical features of Cushings syndrome result from the
disease, ectopic ACTH-secreting malignancy or Cushings excessive secretion of adrenal hormones and are dominated
disease (ACTH-secreting pituitary adenoma). Apart from by the effects of cortisol. Growth retardation, fatigue and
iatrogenic Cushings syndrome, adrenal tumours account for emotional liability are common symptoms. Those due to
80% of Cushings syndrome in children less than 7 years of an increased production of glucocorticoids include buffalo
hump fat pad over the back of the neck, obesity, moon face,
Table 21.14: Suggested indications for GnRH-analogue treatment purple striae over abdomen, flanks and thighs, easy bruising,
for children with central precocious puberty
muscle wasting and weakness, osteoporosis, latent diabetes
C entral precocious puberty with one or two signs of puberty mellitus and polycythaemia (Figs 21.7A and B). Increased
occurring before 9 years in boys and before 6 years in girls but output of mineralocorticosteroids and aldosterone accounts
treatment after 6 years of age in girls should be individualised
for the hypertension and hypokalaemic alkalosis. Excessive
Pubertal GnRH-stimulated LH concentrations (peak LH or LH/
FSH ratio) secretion of androgens may cause hirsutism and clitoral
Rapidly progressive puberty (rapid statural growth, progression enlargement in females, baldness and acne. These patients
of secondary sexual characteristics and skeletal maturation) are, in addition, highly susceptible to infections.
documented over 36 months
Compromised predicted adult height (based on bone age) of less Diagnosis
than 2 SD or demonstration of significant loss of height potential
on follow-up assessment In patients with Cushings syndrome due to exogenous
Psychological or behavioural reasons steroids given in excess (> 68 mg/m2 per day of
Adapted from Carel JC, Eugster EA, Rogol A, et al. Pediatrics. hydrocortisone equivalent), the endogenous secretion of
2009;123:e752 glucocorticoids will be suppressed. Excessive doses of
Treatment
A Iatrogenic Cushings syndrome should be managed by
withdrawal of steroid therapy or to use a minimal effective
dose or an alternate day regime if discontinuation of
steroid treatment is not possible. A tumour of the adrenal
gland should, of course, be excised when this is possible.
In most cases of adrenal hyperplasia, a satisfactory result
can only be obtained by total bilateral adrenalectomy
followed by replacement therapy (as in Addison disease).
Unfortunately, it appears that this treatment may be followed
by the subsequent appearance of pituitary tumours and
severe hyperpigmentation (Nelson syndrome). The prognosis
of Cushings syndrome when the cause is tumour will
depend upon its nature (e.g. adrenal carcinoma), extent and
removability. Pituitary Cushings syndrome is best treated by
trans-sphenoidal surgical removal of the pituitary adenoma.
Reported recurrence rates after transphenoidal surgery in
children varies from 42% to 78%. A serum cortisol less than
B 50 nmol/L at 0900 hour within 2 weeks of surgery is a good
Figs 21.7A and B: (A) A child with Cushings syndrome; (B) CT scan
index of remission.
showing a large well-encapsulated tumour with calcification of the left
adrenal gland
Adrenal Insufficiency
glucocorticoids like prednisolone or dexamethasone (1 mg
Adrenal insufficiency can be caused by disorders involving
prednisolone equivalent to 4 mg hydrocortisone and 1mg of
the hypothalamus and pituitary gland (Table 21.1) or those
dexamethasone is equivalent to 30 mg of hydrocortisone)
affecting primarily the adrenal gland. The causes of primary
will result in features of Cushings syndrome but the
adrenal insufficiency are shown in Table 21.15.
morning plasma cortisol and 24-hour urine free cortisol
and 17-oxogenic steroids will be suppressed. Endogenous Clinical Features
excessive secretion of glucocorticoids due to an adrenal
tumour or ACTH-secreting pituitary tumour will result in In the most common form of autoimmune polyendocrine
loss of diurnal cortisol rhythm with elevated morning and syndrome, the children present with cutaneous candidiasis,
evening plasma cortisol levels and a midnight plasma cortisol hypoparathyroidism (tetany and convulsions) and adrenal
of greater than 207 nmol/L is highly specific for the diagnosis insufficiency. Allgrove syndrome is characterised by
of Cushings syndrome. The urinary free cortisol will be alacrima, achalasia, ACTH-resistance and neurological
elevated more than four times the upper limit of normal symptoms. In the older child, the manifestations closely
corrected for the creatinine level. Frequently the 24-hour resemble those seen in the adultextreme asthenia,
Endocrine Disorders 453
Table 21.15: Causes of adrenal insufficiency be elevated. The early morning plasma cortisol level will
be low and fails to rise in response to low dose Synacthen
DAX1 mutation
stimulation (1 mg/1.73 m2 intravenously) or standard dose
SF1 mutation
Synacthen test (250 mg intravenously). In neonates and
IMAGe syndrome
young infants, a Synacthen test using a dose of 1 mg/kg
P450 oxidoreductase deficiency ( Antley-Bixler syndrome
phenotype) intravenously has been recommended. Failure of the plasma
Adrenocorticotrophic hormone unresponsiveness cortisol to increase by 200 nmol/L and reach to an absolute
Familial glucocorticoid resistances level of more than 500 nmol/L in response to Synacthen is
Autoimmune adrenal insufficiency (APS1 AIRE; APS2 HLADR3 suggestive of adrenal insufficiency. If secondary adrenal
CTLA-4) insufficiency is suspected, appropriate investigations of the
X-linked adrenoleukodystrophy hypothalamic pituitary axis like the glucagon stimulation test
Inherited defects of adrenal steroidogenensis or insulin tolerance test should be performed.
Mitochondrial cytopathy In further assessment of the aetiology of primary adrenal
Triple A syndrome (ALADIN-WD-repeat protein) insufficiency, recommended investigations include:
Acquired adrenal insufficiency Plasma very long chain fatty acids
Infections: Tuberculosis, fungal infection, CMV, HIV meningo Auto-antibody levels against adrenal, thyroid, gastric
coccus, pseudomonas, E. coli parietal cell, islet cell
Haemorrhage/thrombosis: SLE, polyarteritis, antiphospholipid Serum thyroid hormones, calcium, phosphate, vitamin
syndrome, anticoagulant therapy
B12 and folate concentrations
Infiltration: Tumour, sarcoidosis, amyloidosis, haemosiderosis
Recumbant and erect plasma renin activity, aldosterone,
Drugs: Cyproterone acetate, ketoconazole, aminoglutethimide,
mitotane, rifampicin electrolytes and urine sodium concentrations to assess
mineralocorticoid activity
cachexia, hypotension and microcardia. Pigmentation of skin Plasma lactate
and mucous membranes tends to be less marked in children. Skeletal survey
Dangerous adrenal crises may occur, often precipitated by Appropriate molecular genetic diagnosis.
infections. Hypoglycaemic convulsions may first bring the
child to the physicians. Treatment
In the congenital form of the disease, acute adrenal In the management of acute adrenal crisis, there should be
failure may develop with alarming rapidly during the
adequate replacement of fluid, sodium and glucose, and
neonatal period. Newborn infants with adrenal insufficiency
hydrocortisone by the intravenous route. In situations of
frequently present with hypoglycaemia and prolonged
stress after an initial bolus of hydrocortisone intravenously,
neonatal jaundice. Increased skin pigmentation is also seen.
it has been suggested that the dose of hydrocortisone (25
Vomiting, diarrhoea and extreme dehydration can lead
30 mg/m2/every 6 hours) be given by continuous infusion
easily to an erroneous diagnosis such as pyloric stenosis,
high intestinal obstruction or gastroenteritis. The pointer to rather than by bolus. The usual oral replacement dose of
adrenal insufficiency is the presence of abundant sodium and hydrocortisone is 810 mg/m2 per day in divided doses and
chloride in the urine, and hyponatremia, hyperkalaemia in the the fludrocortisone dosage is 100200 mg per day. If a child is
serum. Congenital adrenal insufficiency is due to a number of unwell during an intercurrent illness, the oral hydrocortisone
rare genetic disorders and the diagnosis and genetic analysis replacement dosage should be tripled until the child is better.
and management should be performed in a tertiary referral Excessive replacement steroid dosage will stunt physical
centre. Tuberculous adrenalitis is now a rare cause of primary growth and should be avoided.
adrenal insufficiency in childhood. Exogenous corticosteroid
therapy can induce adrenal suppression in patients if used in Congenital Adrenal Hyperplasia
dosages above the cortisol secretion rate for over 3 weeks. Deficiencies of the enzymes involved in adrenal steroidogensis
will lead to different varieties of CAH (Fig. 21.6).
Diagnosis 21a-hydroxylase deficiency accounts for 95% of the cases
During a crisis, characteristic blood chemical changes of CAH seen in childhood and will be discussed in detail.
include low serum chloride and sodium, elevated serum The incidence varies from 1:15,000 to 1:20,000 births and
potassium (with changes in the ECG) and hypoglycaemia. In is inherited in an autosomal recessive manner. The incidence
the absence of a crisis the blood chemistry may not be grossly of CAH has been reported to be higher in India, Philippines
abnormal and more refined tests are necessary. In primary and South America. 21a-hydroxylase deficiency results
adrenal insufficiency, the plasma ACTH concentration will from mutations of the CYP21B gene which is situated on
454 Hutchison's Paediatrics
but the plasma renin activity and serum electrolytes may be expression must reach a threshold level at a critical time in
normal. Advanced skeletal maturation is seen in untreated or the cascade of early events leading to testis differentiation,
undertreated patients with classical 21-OHD. In a virilised before male sex determination can occur. SOX9 encodes
female, chromosomal analysis and ultrasound examination of a transcription factor downstream of SRY and is a crucial
the pelvis for the presence of female internal genital organs component of the male sex-determining pathway. Loss of
are necessary. function mutation in SOX9 results in gonadal dysgenesis
and campomelic dysplasia. Other transcription factors and
Treatment signalling molecules are important in the differentiation
Hydrocortisone is administrated to children in a dose of of peritubular myoid cells, endothelial cells, Leydig cells,
1020 mg/m2 per day divided into two or three doses. Sertoli cells and germ cells within the developing testes.
Patients are monitored by measuring serum electrolytes, Both the Mllerian and Wolffian ducts are present in male
plasma renin and 17aOHP levels every 34 months. In and female embryos. Anti-mllerian hormone (AMH)
children and young adolescents growth velocity and bone which is secreted by Sertoli cells of the testes stimulates the
age (annually) are followed over time to ensure that they production of matrix metalloproteinase 2 (MMP2) which
are receiving the proper dose. In the salt-wasting form of induces apoptosis in the Mllerian duct epithelial cells. The
CAH mineralocorticoid replacement is also necessary. Wolffian ducts develop into the epididymis, vas deferens
9a-fludrocortisone in a dose of 0.050.2 mg daily orally is and seminal vesicles under the influence of testosterone
required with careful monitoring of blood pressure, plasma produced by Leydig cells of the developing testes. A number
renin activity, serum and urine electrolytes. In addition, it of enzymes are responsible for testosterone biosynthesis
is recommended that salt supplement of 35 mmol/kg per (Fig. 21.6) and mutations in these genes will result in under
day be given to salt-losing 21-OHD patients in the first 23 masculinisation of a genetic male. Testosterone is converted
years of life. Higher dosages of hydrocortisone is required to dihydrotestosterone (DHT) by 5a-reductase encoded
in times of stress. In most virilised females who have been by the SRD5A2 gene. DHT signals through the androgen
treated with suppressive glucocorticoids from an early age it receptor present in the developing external genitalia to bring
is important to correct the external genitalia, by 26 months about the development of the phallus and scrotum which is
of age (recession clitoroplasty and feminising vaginoplasty). completed by about 8 weeks gestation. Further development
Vaginal dilatation is contraindicated in childhood. of the penis in males is stimulated by gonadotrophin secreted
Examination of the genitalia should only be done to assess from the foetal pituitary from mid-gestation onwards. The
pubertal development or if under-treatment is suspected. transabdominal phase of descent of the testes is controlled
Following diagnosis of a patient with CAH, a molecular by the enlargement of the caudal genitoinguinal ligament and
diagnosis should be made if possible to facilitate genetic the gubernaculum mediated by the hormone insulin-like 3
counselling and prenatal diagnosis of the condition in future produced by the Leydig cells. The inguinoscrotal phase of
pregnancies. Prenatal dexamethasone given to the pregnant descent of the testes is controlled by the neurotransmitter
mother who had given birth to a child with CAH to decrease calcitonin gene-related peptide produced under the control
the risk of genital virilisation in an affected female foetus of androgens.
should still be regarded as experimental. In the absence of SRY, the Wolffian ducts regress and the
Mllerian ductal system develops into the uterus, fallopian
DISORDERs OF SEX DEVELOPMENT tubes and part of the vagina. Although ovarian and female
genital development has been regarded as a default pathway,
Sexual development is a complex process which is dependent recent evidence suggests that there are genes important in
on a variety of molecular signals working in concert to female sexual development.
specify sex-specific differentiation and organogenesis. A recent suggested classification of DSD is shown in
In humans, the process of sex determination commits the Table 21.16.
bipotential gonads to become either a testis or an ovary A newborn with DSD should be referred for assessment
depending on the genetic sex of the foetus. The process and management by a multidisciplinary team of surgeon,
of sexual differentiation follows when the gonads release paediatric endocrinologist, geneticist, neonatologist, psycho
sex-specific signalling molecules and hormones which are logist and nurse specialist in a tertiary centre. Although
responsible for shaping the phenotypic sex of the individual. not easy, an attempt should be made to decide whether the
Genes of several transcription factors including steroidogenic newborn infant is a virilised female or an under-masculinised
factor 1 (SF1) and Wilms tumour 1 (WT1) are required for male. The degree of masculinisation can be assessed according
the formation of the indifferent genital ridges in humans. The to the Prader staging. Whenever a gonad is palpable, then
sex determining region of the Y-chromosome gene (SRY) the newborn is a genetic male. The nature of the opening
456 Hutchison's Paediatrics
Table 21.16: Classification of disorder of sex development androgen resistance, 46,XY complete gonadal dysgenesis or
LH receptor mutation) genitalia. Existing data favour male sex
Sex Turner syndrome 45,X and variants Klinefelter
chromosome syndrome 47,XXY; 45,X/46,XY mixed gonadal
of rearing in all males with isolated micropenis, 5a-reductase
DSD dysgenesis 46,XX/46,XY ovotesticular DSD or 17b-hydroxysteroid dehydrogenase deficiencies. Test
46,XY DSD Disorders of gonadal development: osterone enanthate 25 mg intramuscularly monthly for
Complete gonadal dysgenesis three doses will establish testosterone responsiveness and
Partial gonadal dysgenesis increase phallus size to facilitate surgical repair of chordee
Ovotesticular DSD and urethral reconstruction. Virilised females should have
Disorder of androgen synthesis or action: recession clitoroplasty and vaginoplasty by 6 months of
Defect in androgen action age. The timing of genital surgery in a 46,XY DSD patient
Androgen biosynthetic defects assigned the female sex of rearing remains controversial.
Luteinising hormone receptor gene mutations Some people are of the view that despite gender assignment
Mutations of AMH or its receptor gene early in life, genital surgery should be deferred and only be
46,XX DSD Disorder of gonadal development ovotesticular performed after consent from the patient herself. However,
DSD: with proper counselling and frank discussion after adequate
Ovotesticular DSD information has been given to the parents, a decision to have
Testicular DSD (SRY+, SOX9 mutation) genital surgery in a patient with 46,XY DSD in infancy can
Gonadal dysgenesis usually be reached by the multidisciplinary team and the
Androgen excess, e.g. 21-OHD
parents. Sex hormone replacement should be initiated at the
Adapted from Lee PA, Houk CP, Ahmed SF, et al. Pediatrics.
2006;118:e488
appropriate age when indicated.
Psychological support should be provided to the
below the clitorophallus, position of the anus should be noted family. Assessment of gender identity, gender role and
and the urethral and vaginal opening identified if possible. sexual orientation should be performed when the child is
Increased skin pigmentation in a virilised female newborn sufficiently psychologically developed. Support groups
is suggestive of 21-OHD and the circulatory and hydration have an important role in the care of patients with disorders
status should be assessed. Any dysmorphic feature should be of sex development. Transition care is important and the
noted. patients must be provided with detailed information on their
diagnosis, previous treatment and expected outcome.
Diagnosis
Most of the virilised female infants will have 21-OHD DIABETES MELLITUS
while a definitive molecular diagnosis can only be reached Diabetes mellitus is a common chronic childhood disorder
in less than half of the children with 46,XY DSD. Initial in the Western World but is less common among Asians.
investigations should include karyotyping with X and Y As of 2009, there are 479,600 children with type 1 diabetes
specific probe detection and measurement of plasma 17a mellitus (T1DM) in the world, of which 23% comes from
OHP, androstenedione, dehydroepiandrosterone sulphate Southeast Asia and 6.3% comes from the Western Pacific
(DHEAS), testosterone, DHT, gonadotrophins, AMH, ACTH, region. The annual increase in incidence is 3% per year
cortisol and serum electrolytes concentrations. An ultrasound worldwide. A classification of diabetes is shown in Table
examination of the pelvis should be performed to assess the 21.17 and diabetes mellitus can develop as a result of several
presence or absence female internal genital organs. Further pathogenic processes. The diagnostic criteria for diabetes
assessments of urinary steroid profile or androgen levels after mellitus are shown in Table 21.18.
human chorionic gonadotrophin stimulation may be required
beyond the first 3 months of life. Type 1 Diabetes Mellitus
The aetiology of T1DM has remained elusive but genetic
Management and environmental influences are thought to be important. In
Gender assignment should be based on the diagnosis, Caucasians, there is an association between T1DM and the
likely functional outcome to the genital organ, testosterone HLA histocompatibility complex on chromosome 6 and the
responsiveness, potential for fertility, surgical options insulin gene variable number of tandem repeats (VNTRs)
and views of the parents. However, we must realise that polymorphism on chromosome 11. These associations are
recommendations on sex assignment are based on limited less strong in Asian diabetic patients. It is likely that type 1
data. No management controversies exist in patients with diabetes is a polygenic disorder. Recently, many genome wide
normal male (46,XX testicular DSD) or female (complete association studies of T1DM have identified at least 24 genes
Endocrine Disorders 457
Administration of insulin in the first hour of fluid replacement the patient is fully conscious, out of ketoacidosis and able to
Treatment of acidosis with bicarbonate. tolerate oral feeding.
The cornerstones of diabetes management include patient
Diagnosis education, insulin, diet, exercise and monitoring of metabolic
In the presence of classical symptoms of polyuria, polydipsia control. The initial education can be done either as an
and the documentation of glycosuria, and ketonuria, a random inpatient or on an outpatient basis. At diagnosis, the patient
blood sugar more than 11 mmol/L is diagnostic of T1DM. A and parents should be taught the survival skills including
glucose tolerance test is not usually necessary for diagnosis. insulin injection, home blood glucose monitoring, recognition
DKA is present if the blood pH is less than 7.3, bicarbonate of hypoglycaemia, ketoacidosis and their management, diet,
is less than 15 mmol/L in the presence of hyperglycaemia adjustment of insulin dosage especially during illness and for
(blood sugar > 11 mmol/L) and heavy glycosuria and activities. Continued support should be given to the patients
ketonuria. At diagnosis, the serum electrolytes, acid-base and their parents with a continuing educational curriculum
status, haemoglobin A1C, glutamic acid decarboxylase and through the diabetes management telephone hotline.
(GAD), anti-islet cell antibody (ICA) and anti-insulin
antibody (IAA) should be measured. These antibodies are Insulin Treatment
present in 8590% of newly diagnosed Caucasian diabetic The patients and their parents should be knowledgeable about
children and adolescents but the autoimmune form of diabetes the action of the various types of insulin that are available
is less common in Asians. Tests for thyroid function, thyroid (Table 21.19).
antibodies and anti-gliadin, anti-endomysial and tissue Insulin can be given subcutaneously into the thighs
transglutaminase antibodies for coeliac disease should also and lower abdominal wall by fine needle syringes, pen
be performed. Children may have evidence of infection at injectors and jet injectors or by insulin infusion pump.
presentation and appropriate investigations should also be Common insulin regimes include a mixture of short-acting
undertaken. A full blood count will reveal leucocytosis with and intermediate-acting insulin given before breakfast and
left shift and fever is present if there is intercurrent infection. the evening meal. In recent years, basal-bolus regime with
There may be nonspecific elevation of amylase. The serum multiple injections of insulin are preferred with a peak less
sodium and phosphate potassium levels may be low. long-acting insulin analogue given once or twice a day
together with a short-acting insulin analogue given before
Management the three main meals. Insulin pump treatment is increasingly
Diabetic ketoacidosis require prompt recognition and treatment used in motivated patients who desire tight control and has
and carries a small risk of death from cerebral oedema, aspiration been used successfully even in young children with brittle
and cardiac arrhythmia. In a semiconscious or unconscious diabetes. Prepubertal diabetic children will require 0.71
patient, the gastric contents should be emptied by nasogastric unit of insulin/kg per day. Children during puberty will
require 3050% more insulin.
suction. If a patient is severely dehydrated and suspected to be
in insipient shock, resuscitation with bolus normal saline (10 Nutritional Management
20 ml/kg intravenously) should be instituted. Otherwise the
fluid deficit should be replenished over 48 hours with normal The diet should provide adequate nutrition and calories for
saline initially and changed to half normal saline in 510% optimal growth. The total energy intake should comprise 55%
dextrose when the blood sugar has been brought down to 15 complex unrefined carbohydrates, 15% protein and 30% fat
mmol/L or if the blood sugar fall is greater than 5 mmol/hour with less than 10% in both saturated and polyunsaturated fat.
after intravenous insulin infusion. Insulin infusion (0.1 unit/ Children with diabetes should be educated on healthy eating
kg per hour) should only be started 12 hours after starting with a diet high in vegetables, fruits and fibre. In patients
fluid replacement and insulin infusion should be maintained on twice daily injections of short-acting and intermediate-
until the ketoacidosis is controlled. There is no evidence that acting insulin, the carbohydrate intake should be distributed
bicarbonate is necessary for the treatment of DKA. Potassium into three main meals and three snacks in order to avoid
replacement (40 mmol/L of fluid) is only started when a good hypoglycaemia between the main meals. Snacks may not
urine output is established. Prospective studies have not shown be needed in patients on basal-bolus regime using peak less
any clinical benefit from phosphate replacement. Blood sugar, long-acting and short-acting insulin analogue before meals.
neurological status, fluid balance should be done hourly and
serum electrolytes, acid-base status should be done 2 hourly. Monitoring of Metabolic Control and Complications
There should be continuous electrocardiographic monitoring. Self-monitoring of blood sugar regularly before and 2 hours
The treatment can be switched to subcutaneous insulin once after meals and occasionally at 3 am are necessary for
Endocrine Disorders 459
antibodies. Antibody positive T2DM patients are reported Table 21.20: Causes of hypoglycaemia in infants and children
to have insulin deficiency while antibody negative T2DM Intrauterine growth retardation and prematurity
patients are more insulin resistant. Only 40 to 60% of Asian Perinatal asphyxia
children with T1DM are antibody positive and a slowly Infant of diabetic mother
progressing form of autoimmune T1DM reported in Japan Intrauterine infection and sepsis
further complicates this issue. The rarer form of maturity Rhesus incompatibility
onset diabetes of youth (MODY) is characterised by onset Inborn errors of metabolism
of noninsulin dependent diabetes before 25 years of age amino acids and organic
with autosomal dominant mode of inheritance involving a disorders of carbohydrate metabolism, e.g. glaucoma storage
minimum of two but preferably three consecutive generations disease, fructose intolerance, lactosaemia
affected by type 2 diabetes in the family. The majority of fatty acid oxidation defects
the individuals with insulin resistance who can compensate urea cycle defects
by an adequate insulin secretion do not develop T2DM but Endocrine causes
they are still prone to the complications associated with type hypopituitarism
2 diabetes. growth hormone or adrenal insufficiency
persistent hyperinsulinaemic hypoglycaemia of infantry
Management Beckwith-Wiedemann syndrome
Insulinoma
Patients are encouraged to undertake regular exercise of at
Ketotic hypoglycaemia
least 4560 minutes per day. Obese individuals should seek
Drugs including alcohol, aspirin, b-blockers
dietary advice from a dietitian for a caloric and carbohydrate
Sepsis especially due to gram-negative organisms
restricted diet to achieve a gradual weight loss of 0.52.0
kg per month. The importance of glycaemic control in the
of neuroglycopaenic symptoms. Neuroglycopaenia leads to
prevention of diabetes complications has been shown in
confusion, irritability and abnormal behaviour, jitteriness,
both types 1 and 2 diabetes. Patients who are not adequately
headaches, paraesthesia of the extremities and dizziness.
controlled (HbA1C >7%) on lifestyle changes and diet
Severe hypoglycaemia can result in coma and convulsion.
should be treated with oral antidiabetic agents (biguanides,
Prolonged and severe hypoglycaemia with coma and
sulphonylureas, thiazolidenediones, glucosidase inhibitors).
convulsion can lead to permanent neurological sequelae.
Insulin therapy should be initiated if metabolic control cannot
be achieved by diet and oral antidiabetic drugs. Hypertension
Investigations
and dyslipidaemic should be aggressively managed. Although
the case for screening for undiagnosed T2DM or prediabetes Although hypoglycaemia require prompt treatment once
is getting stronger, it remains to be proven that early detection identified (usually by a low glucometer sugar reading at the
and treatment will reduce morbidity and mortality. bedside), it is important to document the true blood sugar and
obtaining critical samples (blood for GH, cortisol, insulin,
HYPOGLYCAEMIA free fatty acids, blood ketones and b-hydroxybutyrate,
lactate, ammonia and urine for ketones and toxicology).
Blood glucose is the main metabolic fuel of the brain and Nonketotic hypoglycaemia is due to hyperinsulinism or fatty
it is maintained in a relatively narrow normal range of acids oxidation defects. Hyperinsulinaemic hypoglycaemia
4.46.7 mmol/L by a number of hormones including insulin, is diagnosed when in the presence hypoglycaemia, insulin
glucagon, cortisol, GH and catecholamines. Hypoglycaemia level is inappropriately elevated (>3 mU/ml), plasma free
in neonates is defined as a blood sugar below 2.6 mmol/L fatty acids (<1.5 mmol/L) and b-hydroxybutyrate (<2.0
and would require further investigation but autonomic and mmol/L) are low, a high glucose infusion rate is required
neuroglycopenic symptoms will appear when the blood sugar to maintain euglycaemia (>1012 mg/kg per min) and the
falls below 3.5 mmol/L in older children. The common presence of an exaggerated glucose response to glucagon.
causes of hypoglycaemia in infants and children are shown Hyperinsulinaemic hypoglycaemia with hyperammonaemia
in Table 21.20. is suggestive of a gain of function mutation of the glutamate
dehydrogenase gene. Perinatal stress hyperinsulinism is
Clinical Features reported in 10% of SGA neonates. Fatty acid oxidation defect
Mild to moderate hypoglycaemia can result in autonomic can be diagnosed by measurement of plasma acylcarnitine
nervous system activation including hunger, trembling of profile and urine organic acids. Ketotic hypoglycaemia
extremities, pallor, sweating and palpitations and manifestation commonly occurs in young children following prolonged
Endocrine Disorders 461
fasting, decreased intake or repeated vomiting. It is always (1015 mg/kg per day) and octreotide given by subcutaneous
important to look for sepsis (especially with gram-negative injection have been successfully used to manage the persistent
organisms) as a treatable cause of hypoglycaemia. Further hyperinsulinaemic hypoglycaemia of infancy and near total
assessment for hypopituitarism should be carried out where pancreatectomy is the only option in drug resistant cases.
indicated. In diazoxide resistant cases, re-secretion of the focal lesion
(diagnosed by 18F-fluorodopa PET scan) is curative. In
Management diffuse hyperplasia, near total pancreatectomy will need to be
Hypoglycaemia should be treated promptly after obtaining performed. Patients with autosomal recessive KATP channel
the critical samples by intravenous infusion of 24 ml/kg of mutations and certain glucokinase gene mutation (Y214C)
10% dextrose followed by an adequate glucose infusion to are unresponsive to diazoxide 18F-fluorodopa PET scan is
maintain euglycaemia. Treatment should also be aimed at 96% accurate in diagnosing focal or diffuse disease. Patients
the underlying cause of the hypoglycaemia. Oral diazoxide with ketotic hypoglycaemia should avoid prolonged fasting.
Benjamin Joseph
C H A P T E R
Paediatric Orthopaedics 22
INTRODUCTION DEFORMITIES
Children may present with a variety of symptoms related to By far the most common reason for a child being referred
the musculoskeletal system (Box 22.1). It is important to be for an orthopaedic opinion is the presence of a deformity.
aware of symptoms that are likely to be innocuous and those The questions that need to be asked regarding a child with a
that may herald serious underlying disease that requires deformity of the upper or lower limbs are listed in Table 22.1.
early treatment. Several conditions need no active treatment; Some of the common deformities seen in Paediatric
reassurance to allay parental anxiety is all that is required. Orthopaedic clinics are shown in Table 22.2. It is clear that a
Another group of conditions may need to be monitored as quarter of these conditions need no active treatment. However,
spontaneous improvement occurs with growth in most cases it needs to be emphasised that these benign conditions form a
but in a few instances deterioration may occur, warranting much larger proportion of the cases seen in the clinic.
some intervention. The third group of conditions always
needs elective, early or urgent immediate treatment. In other GAIT ABNORMALITIES
words, the children may be managed in one of three ways;
1. Reassurance (no active intervention), The common gait abnormalities seen in children are shown
2. Observation (often no treatment is needed but treat later in Box 22.2. The questions that need to be asked while
in selected situations), evaluating a child with a gait abnormality are listed in
3. Active intervention (elective intervention, early inter Table 22.3. With the exception of a painful limp, all other
vention or urgent intervention). gait abnormalities do not require urgent intervention and
It is vitally important that this third group is identified hence can be evaluated without undue haste.
and referred to the Paediatric Orthopaedic Surgeon without
Delayed Walking
any delay. In order to try to work out which of these groups
the symptom of a particular child would fall into, there are Delayed walking is quite alarming for parents and a
some basic questions that need to be answered. Throughout thorough examination of these children is warranted to
this chapter the relevant questions to be asked regarding each
Table 22.1: Questions to be asked regarding a limb deformity in a
symptom would be indicated and an attempt will be made to child
clarify which of these three approaches is appropriate for the
Question Relevance
particular condition.
Is the deformity unilateral Unilateral deformity is more likely to be
Box 22.1: Common symptoms with which children may be brought or bilateral? pathological.
to an orthopaedic surgeon Was the deformity Most deformities that are present from
Deformities present from birth? birth either resolve or remain static; only
Gait abnormalities a few progress.
Musculoskeletal pain Is the deformity remaining A deformity that is progressing may
Paralysis and pseudoparalysis static or is it resolving or indicate that the growth mechanism is
Joint stiffness and limitation of movement progressing? affected and would probably need early
Other e.g. Soft tissue swelling/bony swelling/frequent fractures/ treatment. A deformity that is resolving
limb deficiencies just needs to be periodically observed.
Paediatric Orthopaedics 463
Table 22.3: Questions to be asked while evaluating a child with a gait abnormality
Question Relevance
Does the child have pain on walking? If there is pain on walking, urgent investigations are needed to
establish the definitive diagnosis as some conditions that cause a
painful limp require immediate treatment.
Is the gait abnormality unilateral or bilateral? Unilateral gait abnormality is more likely to be pathological.
Has the gait abnormality been present from when the child If present from when the child started to walk it is likely to be due to a
started to walk? congenital abnormality.
Does the child run, play and do normal activities with peers? If the child does play normally it indicates that there is negligible pain
and that the underlying problem is probably not serious.
Is there an improvement in the gait pattern with growth? If the gait improves as the child grows the underlying problem is likely
to be physiological.
Is there a deterioration of the gait pattern with growth? If gait deteriorates as the child grows there is some underlying
pathology.
Toe-walking not justified in these children except in the very rare instance
where the deformity persists till the age of ten years and is
Children who walk on their toes again need to be evaluated
still severe at this age.
carefully. Among causes for toe-walking are cerebral palsy,
some forms of myopathies and muscular dystrophies and Out-toeing Gait
a very benign condition known as habitual toe-walking.
Habitual toe walking is a diagnosis of exclusion and it is This is less frequently seen and may be due to retroversion
important that the more serious causes of toe-walking are of the femur or external tibial torsion. Again, there is no
definitely excluded before this diagnosis is made. Initially functional disability in these children and no active treatment
these children can bring their heels down to the ground while is required.
standing but go onto their toes when they start walking. In
due course the Achilles tendon may get contracted and then Short-limbed Gait
they would also stand on tip toe. At this stage lengthening of A short-limbed gait indicates that there is a structural
the Achilles tendon is indicated. abnormality of one limb. While more commonly the shorter
limb is at fault due to reduced growth, occasionally the
In-toeing Gait longer limb may be abnormal. Lengthening of one limb is
This is a very common complaint and parents are often very often seen in association with vascular malformations such as
concerned about this gait abnormality. The child typically hemangioma, lymphangioma, and arteriovenous fistula. The
sits in the W position (Fig. 22.1) and examination of the decision to correct the limb-length inequality is governed by
range of passive hip motion would demonstrate excessive the magnitude of the discrepancy that is likely to be present
internal rotation of the hip with a reduction in the range of at skeletal maturity. If the difference at skeletal maturity
external rotation. This is characteristic of excessive femoral is likely to exceed 2 to 3 centimeters, intervention may be
anteversion. The anteversion tends to reduce spontaneously considered.
as the child grows. There is no functional disability though
Waddling Gait
these children tend to be a bit clumsy and some parents feel
that they tend to trip more frequently. The parents need to be A waddling gait or a Trendelenburg gait is characteristically
reassured that gradual resolution of the torsional deformity seen when the hip abductor power is weak. This may be
will occur. Bracing and shoe modifications that have been seen in the relatively uncommon situation where there is
tried in the past have been quite clearly shown to be totally actual paralysis of the hip abductors. Far more commonly,
ineffective and should not be used. Surgical intervention is this gait pattern is seen when the hip abductor mechanism is
rendered ineffective either due to dislocation of the hip or
due to a reduction of the angle between the neck and shaft of
the femur as in coxa vara deformity. This gait pattern signals
serious hip pathology and so children with a waddling gait
must be evaluated carefully and must have radiographs of
the pelvis to exclude these conditions that require surgical
intervention.
Antalgic Gait
An antalgic gait or painful gait signifies that bearing weight
on the affected limb causes pain. Children who demonstrate
this abnormality of gait should undergo a meticulous
examination to identify the source of pain and in the vast
majority of instances the site of pain can be located by
clinical examination alone. Appropriate imaging may then
be done to confirm the nature of underlying pathology.
Treatment would depend on the nature of the pathological
process that is producing pain. Of all conditions that can
manifest with a painful limp the one that requires immediate
Fig. 22.1: This posture while sitting is characteristically seen in
children with excessive femoral anteversion. It is referred to as the W
surgical invention is osteoarticular infection. The urgency
pattern because the legs and the thighs of both the limbs together are for establishing a diagnosis and the need for immediate
aligned in the form of a W intervention cannot be overemphasised.
Paediatric Orthopaedics 465
Table 22.5: Questions to be asked while evaluating a child with musculoskeletal pain
Question Relevance
Can the pain be localised consistently? Likely to be caused by localised pathology
Is the pain brought on by movement of a joint? Likely to be due to pathology in the joint
Is the pain present at rest and on bearing weight on the limb? Likely to be due to disease of bone
Is the child able to run and play normally but has pain at rest after The cause is likely to be innocuous.
physical activity?
Is the child unable to bear weight on the limb? If the child cannot bear any weight on the limb, it is likely that there is
serious underlying pathology.
Table 22 6: Deformities of clubfoot and the underlying contractures that contribute to these deformities
Bony Surgery
Children with clubfoot who present after four or five years
of age would need additional surgery on the bones of the
foot in order to correct the deformity as the tarsal bones
would have been deformed by weight-bearing. The common
operations include osteotomies of the calcaneum to correct the
Fig. 22.4: Gentle passive correction of clubfoot in a neonate should hindfoot varus and osteotomies of the cuboid and cuneiform
be done without causing any pain
bones aimed at shortening the lateral border of the foot or
lengthening the medial border of the foot.
If the deformities can be completely corrected by passive Occasionally one may encounter an older child or an
stretching, the clubfoot is likely to be a postural clubfoot. adolescent with untreated clubfoot. It is possible to correct
the deformity even at this age by either resecting wedges of
Serial Manipulation bone from the dorsolateral aspect of the foot or by distracting
To begin with, all idiopathic clubfeet should be given a trial the contracted soft tissues with the help of an external fixator
of serial manipulation. Treatment should be started as soon mounted on the limb through wires that pass through the leg
as possible after birth. The feet are manipulated without and foot. It needs to be emphasised that any form of surgery
sedation or anaesthesia to ensure that excessive force is not to correct clubfoot in the older child will result in a stiff foot
used. At the first sitting, partial correction of the deformity even if the deformity can be completely corrected.
is achieved and with each subsequent sitting more and more
correction is achieved. After each manipulation a plaster of Clubfoot in Spina Bifida
Paris cast that extends from the tips of the toes to the groin Clubfoot in spina bifida is more difficult to treat. Manipulation
is applied with the foot in the position of correction that has and plaster casts are better avoided on account of the risk of
been achieved. The forefoot deformities and the hindfoot producing pressure sores on the anesthetic feet. There may
varus are corrected first. Only after these deformities are also be muscle imbalance due to paralysis of some muscles
well corrected should any attempt be made to correct the acting on the foot and ankle and this must be addressed or
hindfoot equinus. Full correction of the deformity may be else the deformity will recur.
achieved after four or five manipulations. If the hindfoot
equinus cannot be corrected by manipulation, percutaneous Clubfoot in MCC
tenotomy of the Achilles tendon would be needed. A small
Clubfoot in MCC is far more rigid than idiopathic clubfoot
proportion of feet will not respond to this treatment and these
and hence nonoperative methods are not likely to succeed.
feet would need surgical correction. The success with this
There is also a very high chance of relapse of the deformity
method of manipulative correction steadily decreases with
following surgical correction. In view of this, surgery should
increasing age and often this method will not be effective in
be more radical with excision of segments of the contracted
infants over six to nine months of age.
tendons rather than mere lengthening as done in idiopathic
Soft Tissue Release clubfoot.
Soft tissue release is indicated in children who have not Metatarsus Adductus
responded well to serial manipulation and in children who
are too old for serial manipulation. Soft tissue surgery entails
Treatment Approach: Observe/Treat Electively
lengthening of the tendons of the contracted muscles and Metatarsus adductus is a congenital anomaly where the
division of the contracted capsules. Since structures on the forefoot is adducted. It resembles the forefoot adduction
back and medial aspect of the foot need to be released, the component of clubfoot; but the deformity is at the tarso-
operation is referred to as a posteromedial soft tissue release. metatarsal joints rather than at the midtarsal joint as in
468 Hutchison's Paediatrics
A B
Figs 22.5A and B: Clinical appearance of the foot of a child with metatarsus adductus
Calcaneovalgus
Treatment Approach: Observe
Congenital calcaneovalgus deformity may occur in isolation
or with congenital posteromedial bowing of the tibia.
Calcaneovalgus deformity is a postural deformity that
develops on account of intrauterine molding. At birth,
the foot is dorsiflexed and everted; the dorsum of the foot
may be in contact with the shin (Fig. 22.6). Despite this
Fig. 22.6: Calcaneovalgus deformity of the foot in a newborn infant
apparently severe deformity, rapid spontaneous resolution
occurs. Spontaneous resolution can be facilitated by gentle Congenital Vertical Talus
stretching of the foot into plantar flexion and eversion by
Treatment Approach: Treat Early
the mother several times a day. Very occasionally, a few
casts holding the foot in plantar flexion and inversion may Congenital vertical talus is a complex, rigid deformity of the
be needed. foot that is often associated with spina bifida, chromosomal
If there is an associated posteromedial bowing of the tibia, anomalies (Trisomy 13 and 18) and MCC. The ankle is
the parents need to be reassured that the tibial deformity again plantar flexed and the forefoot is dorsiflexed; consequently
is likely to resolve spontaneously. However, these children there is a total reversal of the normal longitudinal arch of
do need to be followed up as residual tibial deformity and the foot. This is referred to as a rocker-bottom deformity
shortening of the limb that may occur in some children may (Fig. 22.7). The talus is severely plantar flexed (hence the
need to be addressed later in childhood. name of the condition) and the talonavicular joint is dislocated.
Paediatric Orthopaedics 469
Table 22.7: Deformities of congenital vertical talus and the underlying contractures that contribute to these deformities
Region of Joint Deformity Primary muscle Secondary contracture
the foot contracture
Hindfoot Ankle Hindfoot equinus Gastrocsoleus Posterior capsule of ankle joint
Subtalar joint Hindfoot valgus Peroneus longus and brevis Lateral capsule of the subtalar
(a combination of abduction and joint
eversion)
Mid-foot Mid-tarsal joint Forefoot abduction Peroneus brevis Lateral capsule of the calcaneo-
cuboid joint
Forefoot dorsiflexion Tibialis anterior, extensor hallucis, Dorsal capsule of the talo-
extensor digitorum, peroneus tertius navicular joint
470 Hutchison's Paediatrics
Fig. 22.10: Spica cast applied after closed reduction in an infant with
developmental dysplasia of the hip
FLATFOOT
Flatfoot is a condition where the medial longitudinal arch of
the foot is not well formed or has collapsed. At the outset it
is imperative that a distinction is made between a mobile,
flexible flatfoot and a rigid flatfoot. This distinction can be
made very easily by simply asking the child to stand normally
and then to stand on tip-toe. While the child is standing
normally it would be seen that the medial longitudinal arch is
collapsed and the instep of the foot is resting on the ground.
However, as the child stands on tip-toe the arch is completely
restored (Figs 22.12A and B). Such a flatfoot is a mobile or
flexible flatfoot. In children with rigid flatfeet no restoration B
of the arch will be noted on standing on the toes. Figs 22.12A and B: The arch of the foot of a child with flexible
It is important to be aware that the foot appears flat in the flatfoot (A) is restored on standing on tip-toe (B)
vast majority of infants on account of fat in the instep region.
In addition to this, the joints of young children are more lax notion that flatfeet function badly and limit the activity of the
and consequently the ligaments that support the arch, are not child. It is important that parents are counselled and informed
taut and the arch flattens when the child bears weight on the that there is no need to treat asymptomatic flatfeet. The
foot. By around five or six years of age the ligaments of most tendency to prescribe shoe modifications for young children
children tighten up and the medial longitudinal arch forms. with asymptomatic flexible flatfoot should be strongly
There is evidence to suggest that the arch develops better in discouraged for two very compelling reasons. Firstly, there
children who do not wear footwear. Among children who is no evidence at all to show that the use of any form of
use footwear from early childhood, those that wear closed- shoe inserts or shoe modification corrects flatfoot. Secondly,
toe shoes appear to have poorer development of the arch than in the light of evidence that shoe-wearing may actually
children who wear sandals or slippers. be detrimental to development of the arch the wisdom of
prescribing a modified shoe would be questionable. In the
Flexible Flatfoot very rare situation where there is pain in the foot on standing
Treatment Approach: Reassurance or walking, an arch support may be worn.
Flexible flatfoot is far more common in children who have Rigid Flatfoot
hypermobile joints and in children who are obese. Less than
1% of children with flexible flatfeet have any symptoms Treatment Approach: Treat Electively
related to the foot. Yet parents are often very concerned about The common cause for rigid flatfoot is tarsal coalition or an
flatfeet in their children. There is also an unsubstantiated abnormal bony bar between two tarsal bones. The two most
Paediatric Orthopaedics 473
A B
Figs 22.13A and B: Oblique radiograph of the foot of a child with calcaneo-navicular coalition (A). The radiographic appearance of the same
foot after excision of the coalition was performed (B)
A B
Figs 22.14A and B: Physiological genu varum (A) and genu valgum (B)
common coalitions are talo-calcaneal coalition and calcaneo- Physiological Genu Varum and Genu Valgum
navicular coalition. The coalition may be cartilaginous to
Treatment Approach: Reassurance
begin with and then may ossify. Pain often appears when
the child reaches ten to twelve years of age. Examination Several children between the ages of one and three years
will reveal that the arch cannot be restored by standing have genu varum (bow-legs) and children between three and
on tip-toe and that there is limitation of movement of the seven years of age often have genu valgum (knock-knees).
subtalar or mid-tarsal joints. Calcaneo-navicular coalitions These deformities spontaneously resolve completely in
can be demonstrated clearly on an oblique-view radiograph the vast majority of instances and hence are referred to as
of the foot (Fig. 22.13A). CT scans may be needed to clearly physiological genu varum and valgum (Figs 22.14A and B).
demonstrate a talo-calcaneal coalition. If pain has developed However, one needs to be certain that the deformities are
the coalition can be excised and fat or muscle tissue needs not due to any underlying pathology. Among the various
to be interposed into the gap to prevent the coalition from causes of genu varum and valgum, rickets is a common
reforming (Fig. 22.13B). This form of surgery usually cause in developing countries and must be excluded before
relieves pain but the movements of the subtalar and mid-tarsal assuming that one is dealing with physiological genu varum
joints are seldom restored to normal. Occasionally, painful or valgum. Plain radiographs and biochemical investigations
arthritis may develop in the adjacent joints; excision of the can exclude active rickets. Physiological genu varum also
coalition will be ineffective at this stage and the arthritic joint needs to be differentiated from infantile Blounts disease
would need to be arthrodesed. which requires early treatment. A clinical sign that appears
474 Hutchison's Paediatrics
A B
Figs 22.15A and B: The cover-up test showing valgus alignment of the proximal tibia in a
child with bow-legs. This indicates that the child does not have Blounts disease
Bracing
If there are no muscles available to consider a tendon transfer,
an orthosis may be needed to facilitate ambulation. The
extent of bracing would depend on the extent of paralysis. An
orthosis that stabilizes the paralysed foot and ankle (below-
knee brace) is referred to as an ankle-foot orthosis or AFO;
an orthosis that stabilises the knee, ankle and foot is called a
knee-ankle-foot orthosis or KAFO. In the past, these braces
were made of metal uprights and leather belts. Currently
they are made of light-weight thermoplastic materials like
polypropylene.
Spina Bifida
Treatment Approach: Treat Early
(Incipient Neuropathic Ulcer: Treat Urgently)
Spina bifida is primarily a congenital anomaly of
development of the neural tube. Secondarily the neural
arches of the vertebrae at the level of the neural tube defect
fail to fuse in the midline. Either the meninges alone bulge Fig. 22.17: Meningocele in a newborn infant
through the vertebral defect (meningocele) or neural tissue
of the spinal cord and the meninges protrude through the hands on the cot or chair. The scoliosis must be corrected if
defect (myelomeningocele) (Fig. 22.17). Varying degrees this happens or else the child would not be able to use the
of neurological deficit will be present in these children hands for any other useful activity while seated.
depending on the level of the defect. Motor deficit, sensory The deformities of the lower limbs in spina bifida again
loss and autonomic dysfunction, that affects bowel and are largely due to muscle imbalance. These deformities can be
bladder continence, may all be present in children with minimised if muscle balance is restored by appropriate surgery.
myelomeningocele. In a child who is wheel chair bound, any deformity of
The level of the neurological damage, to a large extent, the lower limb that precludes sitting should be corrected.
determines the likelihood of the children retaining their In a child who needs to use an orthosis, any deformity that
ability to walk outside their homes in adult life (community interferes with the fitting of the orthosis must be corrected.
ambulators). In general, if the child has functioning Any deformity of the foot that prevents the foot from resting
quadriceps muscles of both lower limbs, the potential for flat on the ground (plantigrade tread) should be corrected in
remaining a community ambulator is good. If, however, the all children with spina bifida who can walk.
level of the damage is higher and the quadriceps muscles are
paralysed, the child is likely to end up in a wheel chair by Preventing Neuropathic Ulcers
adolescence even if the child does walk with braces in early
One of the most distressing complications of spina bifida
childhood.
is neuropathic ulceration or pressure sores. These occur in
Management of Paralysis regions of sensory loss over bony prominences. The two
common regions where these ulcers develop are the ischial
The management of paralysis in children with spina bifida is region and the soles of the feet. It is important to understand
very similar to that in polio. Wherever tendon transfers are how these ulcers develop and plan strategies to prevent them
feasible, they should be considered and when there are no because getting an ulcer to heal once it develops is often very
tendons available for transfer bracing is needed. difficult. If the ulcer does not heal the underlying bone can
get infected (Fig. 22.18).
Correction of Deformities Neuropathic ulcers develop when insensate tissue
In spina bifida, deformities of the spine, hips, knees and feet overlying a bony prominence is either subjected to excessive
are all common. Scoliosis and kyphosis occur frequently in pressure or to shearing forces. Since pressure is force per
these children and their management is particularly difficult. unit area any reduction in the area of contact will result in
Once the scoliosis becomes severe sitting balance may be lost excessive pressure. This is typically seen when the foot is
and the child may only be able to sit with the support of both deformed and not plantigrade; the entire sole will not rest on
Paediatric Orthopaedics 477
Cerebral Palsy
Treatment Approach: Treat Early
Fig. 22.18: Radiograph of a child with spina bifida who developed Though the motor system involvement in cerebral palsy is
osteomyelitis of the calcaneum the most overt, it is extremely important to note that there
are several other impairments in children with cerebral
the ground. Since a smaller area of the sole rests on the ground palsy including speech defects, visual disturbances, hearing
when the foot is deformed, greater pressure is borne on the defects, behavioural disorders and epilepsy. Several of these
sole than when the child stands on a normal plantigrade foot. associated impairments often need to be addressed before
Hence it is vitally important to correct any deformity that dealing with the motor deficit (These issues are dealt with
may be present and restore a plantigrade tread. However, in Chapter 18).
it is also important to be aware that operations performed Motor system involvement in cerebral palsy compromises
to get the foot plantigrade should not make any joint of the upper limb function and the activities of daily living (ADL).
foot stiff. It is important to restore a plantigrade tread while Involvement of the lower limb in cerebral palsy results in
retaining the suppleness of the foot. This is because the abnormalities of gait. The manifestations of motor system
frequency of neuropathic ulceration is high if the feet are damage include spasticity, in-coordination, paresis, muscle
stiff and rigid even if they are plantigrade. imbalance, lack of selective motor control and involuntary
Similarly, a lumbar scoliosis will cause pelvic obliquity movements. Uncontrolled spasticity will lead to contracture
and then more pressure will fall on the ischial tuberosity that of the spastic muscle and this in turn will lead to deformities.
is lower when the child is seated and this increases the risk of
development of an ischial pressure sore. This underscores the
importance of correcting the spinal deformity to overcome
the pelvic obliquity.
The second factor that can cause a neuropathic ulcer
is shearing forces on tissue overlying a bony prominence.
If a child shuffles on its bottom the tissue overlying the
ischial tuberosity is subjected to shearing forces and so it
is important to educate the parents of the potential risk of
ulceration and ensure that the child does not bottom-shuffle.
Another example of a situation where shearing forces
cause neuropathic ulceration is a calcaneus deformity in an
ambulant child. A child with paralysed plantarflexors of the
ankle with functioning dorsiflexors will develop a calcaneus
deformity. When such a child walks, there is uncontrolled
dorsiflexion of the foot during the latter part of the stance
phase of gait; quite significant shearing forces develop under
the heel when this occurs. Consequently, these children are
very prone to develop ulcers on the heel (Fig. 22.19).
Apart from correcting deformities that predispose to Fig. 22.19: Neuropathic ulcer of the heel in a child with spina bifida
neuropathic ulcers and avoiding activity that can cause and paralysis of the gastrocsoleus
478 Hutchison's Paediatrics
Among these specific problems, spasticity, muscle imbalance Restoring Muscle Balance
and deformities can be modulated by treatment. It needs to
Spastic muscles that are overactive cause reciprocal
be emphasised that treatment can frequently improve these
inhibition of the antagonistic muscles and this results in
problems but the function can never be made normal. muscle imbalance. Once the spastic muscle is weakened, the
The ideal aim of treatment of cerebral palsy is to make antagonistic muscle can be strengthened by physiotherapy.
the child totally independent. However, in several instances
this may not be feasible. It is important to clearly spell INFECTIONS OF BONE AND JOINTS
out the aims of treatment and communicate these aims
to the parents of the child. Every effort must be made to Acute Septic Arthritis
minimize dependence in children who cannot be made totally Treatment Approach: Treat Urgently
independent. In children who are severely affected and
are likely to remain totally dependent for life, the aim of Acute septic arthritis is a surgical emergency that develops
treatment would be to facilitate care of the child and to make following haematogenous seeding of bacteria in the
the caregivers job a bit easier. In addition to these aims of synovium. The bacteria and the macrophages secrete very
treatment, in all children with cerebral palsy complications potent proteolytic enzymes which can degrade and destroy
such as hip dislocation should be prevented. hyaline cartilage of the articular surfaces, the epiphysis and
the growth plate. Enzymatic degradation of cartilage can
Management of Spasticity begin within eight hours of colonisation of bacteria in the
synovial tissue. If adequate treatment is delayed beyond
There are several ways to reduce spasticity of muscles.
three days after the onset of symptoms damage to the joint is
These include physiotherapy, myoneural blocks, oral or
almost inevitable (Fig. 22.20).
intrathecal medication, splinting and casting, surgery on the
The most common causative organism is Staphylococcus
muscles and tendons and neurosurgical procedures such as
aureus. Neonates and children under the age of five years
selective dorsal rhizotomy. Among these different options,
physiotherapy, myoneural blocks and surgery on muscles are most susceptible to developing septic arthritis, though
and tendons are the most widely used. septic arthritis can occur at any age. The hip and the knee
Physiotherapy needs to be done every day throughout the are the most commonly involved joints. In neonates it is
period of growth. The need for regular physiotherapy till not uncommon to have more than one joint simultaneously
skeletal maturity needs to be emphasised at the outset. Often affected.
parents abandon physiotherapy when they do not see any
dramatic improvement. The compliance can be improved
if the patients are reviewed on a regular basis in a special
clinic. This would give the opportunity to remind the parents
for the need for pursuing with physiotherapy; and interaction
with parents of other children can also have very positive
effect in this regard.
Myoneural blocks either into the muscle belly or in
the vicinity of the nerve supplying the spastic muscle
can appreciably reduce spasticity. Currently injection of
Botulinum toxin into the muscle at the motor point is widely
practiced. This reduces spasticity and the effect lasts up to
six months or more. Unfortunately the cost of Botulinum
toxin is prohibitive. Alcohol (40%) has a comparable effect
and is a great deal cheaper.
The aim of surgery on the muscles or tendons is to
weaken the spastic overactive muscles. The force of muscle
contraction can be reduced if the resting length of the muscle
fibers can be reduced and this can be achieved by either
lengthening the tendon or aponeurotic insertion of the muscle
or by erasing the muscle from its origin and permitting the Fig. 22.20: Destruction of the head and neck of the femur following
muscle to slide distally. acute septic arthritis in infancy
Paediatric Orthopaedics 479
In neonates the most common presentation is femur, arthritis may ensue very soon and then the clinical
pseudoparalysis; no spontaneous movement of the affected features would be those of the arthritis.
limb will be seen. True paralysis, fracture of a bone in the limb The initial mode of presentation in neonates is the same
or septic arthritis may all present with lack of spontaneous as for acute septic arthritisas pseudoparalysis. Careful
movement of the limb. A careful examination can help the examination of a child with acute osteomyelitis may
clinician to differentiate these conditions. Attempting passive demonstrate tenderness in the region of the metaphysis with
movement of the affected joint causes the baby to cry and no aggravation of pain on gently moving the adjacent joint.
there may be some swelling around the joint. As in the case of septic arthritis, imaging modalities and
X-rays and other imaging modalities are not helpful in laboratory investigations are not useful in the first few days
confirming the diagnosis of septic arthritis. Similarly, no after the onset of osteomyelitis. Aspiration of the metaphysis
laboratory test apart from actual demonstration of bacteria in with a wide-bore needle may yield pus if frank suppuration
the synovial fluid is diagnostic of septic arthritis. In a sizeable has begun. Ultrasonography and MRI scans can delineate the
proportion of cases of true septic arthritis bacteria may not extent of a sub-periosteal abscess if it has formed. However,
be demonstrable on a Grams stain of the synovial fluid and ideally a diagnosis of acute osteomyelitis should be made
on culture. On account of the unreliability of laboratory tests on clinical grounds even before the sub-periosteal abscess
and imaging studies in confirming the diagnosis of septic forms and appropriate treatment should be instituted without
arthritis, treatment needs to be instituted on the basis of the any delay. Intravenous antibiotics that are effective against
clinical features. Treatment should not be withheld for want the most likely pathogens should be started immediately.
of laboratory confirmation. Staphylococci are the most common group of organisms
Intravenous antibiotics that are effective against Staphylo responsible for acute haematogenous osteomyelitis, while
cocci should be started immediately. If clear improvement in in children with sickle cell disease, Salmonella may be the
the swelling of the joint and reduction in pain on passive causative organism. If the pain and fever subside and the
movement are not noted within 8 to 12 hours the joint must local warmth and tenderness reduce within 24 to 48 hours,
be explored and drained. Lavage of the joint with copious antibiotics and bed rest may suffice. If, on the other hand,
quantity of saline at the time of surgery will help to reduce there is no definite clinical improvement within 48 hours,
the bacterial load. Joints such as the hip that have a propensity surgery should be undertaken. The involved metaphysis (the
to dislocate need to be immobilised in a plaster cast for a few diaphysis in Salmonella osteomyelitis) is explored. If a sub-
weeks while other infected joints should be immobilised till periosteal abscess is present, it is drained. A couple of drill
the inflammation subsides. The intravenous antibiotics may holes are made in the underlying bone and a small quantity of
be replaced by oral antibiotics once clinical improvement is pus may exude through the drill holes. This serves as effective
noted. decompression of the bone if the infection is localised. If a
large quantity of pus is evacuated, a small cortical window
Acute Osteomyelitis is made in the bone to facilitate irrigation of the medullary
Treatment Approach: Treat Urgently cavity. The limb is protected in a plaster of Paris cast to
prevent a pathological facture. Once clinical improvement is
Acute pyogenic osteomyelitis again most commonly is due to
documented intravenous antibiotics may be replaced by oral
haematogenous spread of bacteria from a source elsewhere
antibiotics which are then continued for four to six weeks.
in the body. The infection starts in the metaphysis due to
peculiarities of the blood vessels in this region. If the infection
is not controlled, pus will collect in the metaphysis and then
INHERITED DISORDERS OF BONE
track under the periosteum. Gradually, pus will fill the entire Osteogenesis Imperfecta
medullary cavity and the endosteal blood vessels will get
occluded. At the same time the periosteum will get elevated Treatment Approach: Treat Electively
circumferentially over the entire length of the diaphysis by Osteogenesis imperfecta is an inherited disorder of the
pus, resulting in loss of the periosteal blood supply to the skeleton characterised by frequent fractures. The frequency
cortex. The diaphysis which now is devoid of both endosteal of fractures varies with the severity of the disease. There
and periosteal sources of blood supply will undergo necrosis may be associated ligament laxity, blue sclera and abnormal
and become a sequestrum. It is of paramount importance to dentition. In the most severe variety, fractures occur in-utero
diagnose osteomyelitis early and prevent this catastrophic and the baby is often still born. In the less severe varieties
complication. fractures may commence soon after birth and in the mild
The femur and tibia are most commonly affected. If form may not occur till early childhood. The child may be
the metaphysis is situated within a joint, as in the proximal unable to stand or walk as the femur or tibia may fracture.
480 Hutchison's Paediatrics
Fig. 22.21: Severe deformities of the femur and tibia seen in Fig. 22.22: Fractures in osteogenesis imperfecta can be minimised
osteogenesis imperfecta by inserting intra-medullary rods into the long bones
Skeletal Dysplasias
Treatment Approach: Treat Electively
Skeletal dysplasias include a large variety of genetically
determined abnormalities of the skeleton that manifest as
abnormalities in growth of part or the entire skeleton. In
some forms, the appendicular skeleton is predominantly
Fig. 22.23: Deformity of the knee seen in a form of skeletal dysplasia
involved with little abnormality in the spine, while in other
forms both the axial skeleton and the limbs are involved. result in dwarfism or angular deformities due to asymmetric
The pattern of involvement of the skeleton varies with the growth at the growth plates of long bones (Fig. 22.23).
form of skeletal dysplasia. In some forms the proximal These deformities result in abnormal stresses on joints and
segments (femur and humerus) are most affected, while in this contributes to very early onset of secondary degenerative
other forms the tibia, fibula, radius and ulna are the most arthritis of the weight-bearing joints. In addition to aberrant
severely affected and in a few types, the hands and feet growth, joint instability or joint stiffness may be present in
are most affected. The abnormalities of growth may also some dysplasias.
Paediatric Orthopaedics 481
A B
Fig. 22.24: Multiple osteochondromata seen in the distal femur and Figs 22.25A and B: Radiographic appearance of Ewings tumour (A)
proximal tibia of both limbs and osteosarcoma (B)
A B
Figs 22.27A and B: The appearance of a slipped capital femoral epiphysis in an adolescent
that these are excluded. Majority of the patients are obese include progression of the slip, avascular necrosis of the
though the epiphyseal slip can occur in children with a femoral epiphysis and chondrolysis which results in extreme
normal body habitus. hip stiffness. Secondary, degenerative arthritis may occur in
The growth plate of the proximal femur gets disrupted early adult life. The aim of treatment is to prevent the slip
and the epiphysis slips medially and posteriorly off the neck from progressing and to prevent other complications listed
of the femur (Figs 22.27A and B). The slip is heralded by above. Since the risk of complications increase with delay
pain in the hip and in the majority of instances tends to in treatment, it is recommended that the femoral epiphysis is
occur gradually. The patient continues to walk albeit with fixed to the femoral neck with a screw as soon as possible.
a limp and the slip is referred to as a stable slip. On the There is a risk that a slip can occur in the opposite hip and
other hand, if the slip occurs suddenly the pain is severe and because of this some surgeons fix the opposite epiphysis also
the patient will be unable to bear weight on the limb; this prophylactically. If prophylactic fixation of the unaffected hip
is an unstable slip. Complications are far more common in is not done, these patients should be periodically reviewed to
patients with unstable slips and hence the importance of this ensure that a slip of the epiphysis has not occurred in the
classification. Complications of slipped femoral epiphysis second hip.
Richard Welbury, Alison M Cairns
C H A P T E R
Paediatric Dentistry
B
Figs 23.3A and B: Difference in appearance between primary and
permanent dentition
A B
Figs 23.5A and B: (A) Infraocclusion of upper left primary molars; (B) Dental panoramic radiograph of same patient showing
infraocclusion of primary molars in each quadrant
Key Learning Points that it will crumble to leave a cavity. Once a cavity is formed,
the process of dental caries continues in a more sheltered
Teeth present at the time of birth, or in the neonatal period are
environment, and the protein matrix of dentine is removed
usually teeth of the normal series which have just erupted early.
by proteolytic enzymes produced by plaque organisms. In
The pattern of eruption of the primary dentition is very variable.
the general population, it commonly takes 24 years for
The eruption sequence of the permanent dentition is very
caries to progress through enamel into dentine.
predictable, and investigations should be carried out should the
child deviate from this pattern.
Caries Prevention
The most important of the natural defences against dental
CARIES caries is saliva. If salivary ow is impaired, dental caries
can progress very rapidly. Saliva physically washes away
Aetiology of Caries food debris and sugars; it neutralises acids from the diet and
Dental caries is one of the most prevalent diseases and yet, it those produced by plaque organisms; it also has antibacterial
is completely preventable. properties.
Dental caries is caused by the fermentation of dietary In terms of preventive treatment, the patient should
sugars by microorganisms in plaque on the tooth surface; receive: dietary advice to reduce the amount and especially
this produces acid. Rapid acid formation lowers the pH the frequency of sugary intakes; instruction on effective
of the mouth, and dissolves the enamel. When sugar is tooth cleaning; and advice on uoride intake as uoride
no longer available to the plaque microorganisms, the pH incorporation into the enamel structure of the tooth is the most
within plaque will rise due to the outward diffusion of important chemical intervention that can be made. In some
acids and their metabolism and neutralization in plaque so cases, it is possible to restoratively seal the vulnerable surfaces
that remineralisation of enamel can occur; enamel caries of the tooth to prevent ingress of bacteria (ssure sealants).
progresses only when demineralisation is greater than Early caries is difcult to detect, as it is invisible to the
remineralisation. eye. The rst visible sign may be a faint white mark on the
Dental plaque forms on tooth surfaces that are not surface of the enamel (Fig. 23.6). As the process progresses,
properly cleaned. Dental plaque is made up of about 70% the area under the enamel becomes a dull brown colour, and
microorganisms. The types of microorganism present in as mineral loss under the surface extends, the surface layer
the plaque change with its increasing age. When plaque is becomes unsupported, and this eventually leads to breakdown
young, cocci predominate but as plaque ages, the proportions and cavitation (Fig. 23.7).
of lamentous organisms and veillonellae increase. Diet Dental caries can be confused with developmental
inuences the composition of the plaque ora; considerably, defects of tooth formation, and there are numerous causes of
with mutants streptococci much more numerous when the interruption of tooth development with defects varying from
diet is rich in extrinsic sugar. If the process of dental caries very minor whiteness of enamel to gross abnormalities of
continues, support for the surface layer will become so weak tooth structure (see tooth anomalies section).
Paediatric Dentistry 487
Fig. 23.9: Gingival cyst of the newborn Fig. 23.11: Neonatal teeth causing ulceration of the tongue
result of an initial traumatic incident or continued gingival children is dependent on the maintenance of a healthy
irritation. Excision is usually indicated, and recurrence dentition. Early advice regarding oral hygiene and non-
unlikely. cariogenic diet is essential if we are to instigate good lifelong
habits; this advice is best started antenatally, or during the
Drug-induced Gingival Overgrowth neonatal period. Children with clefts of the palate often have
The three drugs most commonly associated with the induction missing or extra teeth at the cleft site (Fig. 23.20). Teeth at
this site may fail to erupt or erupt in an ectopic position due
of gingival overgrowth (Fig. 23.19) are the anticonvulsant
to lack of bone in the area. Many of these patients have very
phenytoin, the immunosuppressant cyclosporine, and the
narrow palates as a result of surgical scaring and extensive
calcium channel blocker nifedipine.
orthodontic treatment for malocclusion is required.
Poor oral hygiene exacerbates the overgrowth, which
tends to appear interdentally 23 months following the Orofacial Granulomatosis (Crohns Disease)
introduction of the drug. Excellent oral hygiene is essential
Orofacial granulomatosis (OFG) is not a tumour in the true
to minimise the effects but often, surgical excision will be
sense nor a distinct disease entity, but describes a clinical
required in patients whose medical condition does not allow
appearance. Typically, there is diffuse swelling of one or
for a change in drug regime.
both lips and cheeks (Fig. 23.21), folding of the buccal
reected mucosa and occasionally, gingival swelling and
Dental Effects of Cleft Lip and Cleft Palate
oral ulceration (Fig. 23.22). This may represent a localised
Aetiology and early surgical repair is discussed in Chapter 9. disturbance due to an allergic reaction to foodstuffs.
These children should be under the care of a Treatment often includes avoidance of dietary allergens and
multidisciplinary team. Much of the long-term care for these use of anti-inammatory or steroid mouthwashes.
Paediatric Dentistry 491
Fig. 23.21: Lip swelling in orofacial granulomatosis Fig. 23.23: Aphthous ulceration at border of hard and soft palate
Traumatic Ulceration
Fig. 23.22: Gingival swelling in orofacial granulomatosis Traumatic ulceration of the tongue, lips and cheek may occur
in children following the administration of local anaesthetic
Alternatively, the appearance may be due to an underlying (Fig. 23.24).
systemic condition such as sarcoidosis or Crohns disease.
These patients may be prescribed various immunosuppressant Vesiculobullous Disorders
drugs or offered surgery. Erythema multiforme (Fig. 23.25) can produce oral
ulceration in children, and may be associated with viral
Melkersson-Rosenthal Syndrome infection or drug reaction. Oral lesions affect the lips and
This is a condition that generally begins during childhood, anterior oral mucosa, and distinctive lesions on the skin may
and consists of chronic facial swelling (usually the lips), also be present (Fig. 23.26). Initial erythema is followed by
facial nerve paralysis and ssured (scrotal) tongue. bullae formation and ulceration. Treatment includes the use
of steroids, and oral antiseptic and analgesic rinses to ease
Aphthous Ulceration the pain.
Typically, these recurrent lesions are multiple, ovoid or
Epidermolysis Bullosa
round in shape, and have a yellow coloured depressed oor
with inamed border and commonly, are not associated with Epidermolysis bullosa is a term that covers a number of
systemic disease (Fig. 23.23). Possible aetiology includes syndromessome of which are incompatible with life.
familial, immunological or microbial. One or more small ulcers The skin is extremely fragile (Fig. 23.27), and mucosal
in the non-attached gingivae may occur at frequent intervals. involvement may occur. The act of suckling may induce
In a young child, pain associated with this ulceration may be bullae formation in babies and in older children, effective
492 Hutchison's Paediatrics
Fig. 23.24: Self-induced traumatic ulceration following local anaes- Fig. 23.27: Skin fragility in epidermolysis bullosa
thetic administration
Fig. 23.25: Lip crusting in erythema multiforme Fig. 23.28: Bullae formation on the tongue of patient with
epidermolysis bullosa
White Lesions
Fig. 23.29: Aspirin burn in buccal mucosa Fig. 23.32: Squamous cell papilloma
Fig. 23.30: White sponge naevus Fig. 23.33: Giant cell granuloma
INFECTION
Viral Infections
Herpes Simplex
Initial infection with the herpes simplex virus type 1 (HSV-1)
usually occurs in children between the ages of 6 months and
5 years. Younger infants are thought to be protected due to
levels of circulating maternal antibodies. This initial infection
is commonly known as acute herpetic gingivostomatitis.
Almost 100% of urban adult populations are carriers of
the virus, which would suggest that the majority of childhood
infections are subclinical. The virus is spread via droplet
transmission, and has an incubation period of around 7 days.
Early symptoms include: Pyrexia, headache, Fig. 23.35: Gingivitis in acute herpetic gingivostomatitis
general malaise, oral pain, mild dysphagia, and cervical
lymphadenopathy. Later signs include: Severe oedematous
marginal gingivitis (Fig. 23.35); uid-lled vesicles on
the gingivae, tongue, lips (Fig. 23.36), buccal, and palatal
mucosa; and yellow ulceration with red inamed margins
(due to rupture of vesicles after a few hours).
Severe but very rare complications of the infection are
encephalitis and aseptic meningitis.
The presentation of this infection is so characteristic that
diagnosis is rarely a problem. Smears from newly ruptured
vesicles can be taken if diagnosis is in doubt.
Herpetic gingivostomatitis does not respond well
to active treatment. Hydration, bed rest, and a soft diet
are recommended during the febrile stage. Pyrexia can
be controlled using paracetamol or ibuprofen paediatric Fig. 23.36: Herpetic lesions in acute herpetic gingivostomatitis
suspension. Secondary infection of ulcerated areas may
be prevented by the use of chlorhexidine. Chlorhexidine
mouthrinse (0.2%; two to three times a day) may be used
in older children (> 6 years) who are able to expectorate
but in younger children, a chlorhexidine spray can be used
(twice daily), or the solution applied by the parent using a
cotton swab. In severe cases where diagnosis has been made
early, systemic acyclovir can be prescribed as a suspension
(200 mg) and swallowedve times daily for 5 days. In
children under 2 years, the dose is halved. Acyclovir is
active against the herpes virus but is unable to eradicate it
completely.
Oral lesions heal without scaring, and the clinical signs
and symptoms of the infection subside in around 14 days. Fig. 23.37: Recurrent herpes labialis
Following primary infection, the herpes virus remains
dormant in the hosts epithelial cells. The latent virus may applying acyclovir cream (5%; ve times daily for about 5
become reactivated with this recurrent infection presenting days); again, best results are with early treatment.
as herpes labialisthe common cold sore (Fig. 23.37).
This vesicular lesion presents on the mucocutaneous border Herpes Varicella-Zoster
of the lips and vesicles rupture to produce crusting. Intraoral Chickenpox is a presentation of varicella-zoster virus
recurrence is also possible presenting as an attenuated infection mainly affecting children. The virus produces
form of the primary infection. Cold sores can be treated by a vesicular rash on the skin and intraoral lesions that
496 Hutchison's Paediatrics
Herpangina
This is a coxsackie A virus infection that can be differentiated
from primary herpetic infection by the different location of
the vesicles. These are found in the tonsillar or pharyngeal
region and in addition, herpangina lesions do not coalesce to
form large areas of ulceration. The condition is short-lived.
Infectious Mononucleosis
This condition, caused by the Epstein-Barr virus, is not
uncommon amongst teenagers, and the usual form of
transmission is by kissing. Oral ulceration and petechial
Fig. 23.38: Shingles
haemorrhage at the hard/soft palate junction may occur.
There is lymph node enlargement and associated fever. There
resemble those of primary herpetic infection. The is no specic treatment; however, it should be noted that
condition is highly contagious but self-limiting. the prescription of ampicillin and amoxycillin could cause
Shingles occurs as a reactivation of the latent virus within a rash in those suffering from infectious mononucleosis and
a skin dermatome (Fig. 23.38); it is far more common so, these antibiotics should be avoided during the course of
in adults. Orofacial presentation of the virus may lead to the disease.
vesicular lesions within the peripheral distribution of a Treatment of all the above viral illnesses is symptomatic,
branch of the trigeminal nerve. and relies mainly on analgesia and maintenance of uid
intake. Aspirin should be avoided in children less than 12
Mumps years of age in order to avoid Reyes syndrome.
Mumps produces a painful enlargement of the parotid glands;
Key Learning Points
it is usually bilateral. The causative agent is a myxovirus.
Associated complaints include headache, vomiting and Primary herpetic gingivostomatitis is the most common oral
fever. Symptoms last for about a week, and the condition is viral condition. Only when caught early, or when the patient
contagious. is immunocompromised should antivirals be prescribed. This
condition is likely to return throughout the patients life as a
Measles (Rubeola) common cold sore.
Common childhood viral illnesses such as chickenpox and
The intraoral manifestation of measles (Kopliks spots)
measles all have intraoral signs.
occurs on the buccal mucosa as white speckling surrounded
by a red margin. The oral signs usually precede the skin
lesions, and disappear early in the course of the disease. BACTERIAL INFECTION
The skin rash of measles normally appears as a red
maculopapular lesion. Fever is present, and the disease is Acute Orofacial Infection
contagious. Acute orofacial infection is usually the result of an untreated
carious tooth, which has resulted in abscess formation with
German Measles (Rubella)
subsequent dissemination of infectious organisms into the
German measles does not usually produce signs in the oral surrounding tissues.
mucosa: however, the tonsils may be affected. A rapidly spreading extraoral infection is a surgical
Protection against the diseases of mumps, measles and emergency which merits immediate treatment, and may
rubella can be achieved by vaccination of children in their require admission for in-patient management (Fig. 23.39).
early years. Two areas of extraoral spread are of special importance.
Paediatric Dentistry 497
Staphylococcal Infections
Fig. 23.39: Acute orofacial infection Impetigo may be caused by staphylococci and streptococci,
and can affect the angles of the mouth and the lips.
These are the submandibular region and the angle between It presents as a crusting vesiculobullous lesion. The
the eye and nose. Swelling in the submandibular region vesicles coalesce to produce ulceration over a wide area.
arising from posterior mandibular teeth can produce Pigmentation may occur during healing. The condition is
raising of the oor of the mouth. This can cause a physical
self-limiting, although, antibiotics may be prescribed in
obstruction to breathing, and spread from this region to the
some cases.
parapharyngeal spaces may further obstruct the airway. The
Staphylococcal organisms can cause osteomyelitis of the
progression from dysphagia to dyspnoea can be rapid, and a
jawbone in children. Although the introduction of antibiotics
submandibular swelling should be decompressed as a matter
has reduced the incidence of severe forms of the condition,
of urgency in children. A child with raising of the oor of
it can still be devastating. In addition to aggressive antibiotic
the mouth requires immediate admission to hospital. The fact
therapy, surgical intervention is required to remove bony
that trismus is invariably an associated feature makes expert
anaesthetic help essential for safe management. sequestra.
Infection involving the angle between eye and nose has
Streptococcal Infection
the potential to spread intracranially, and produce a cavernous
sinus thrombosis. This is a potentially life-threatening Streptococcal infections in childhood vary from a muco-
complication. The angular veins of the orbit have no valves, purulent nasal discharge to tonsillitis, pharyngitis and
and connect the cavernous sinus to the external face. If the gingivitis.
normal extracranial ow is obstructed due to pressure from Scarlet fever is a beta-haemolytic streptococcal infection
the extraoral infection, then infected material can enter the consisting of a skin rash with maculopapular lesions of the oral
sinus by reverse ow. To prevent this complication, infection mucosa associated with tonsillitis and pharyngitis. The tongue
in this area (which arise from upper anterior teeth, especially shows characteristic changes from a strawberry appearance in
the canine) must be treated quickly. the early stages to a raspberry-like form in the later stages.
The principles of the treatment of acute infection are:
Congenital Syphilis
Remove the cause
Institute drainage Congenital syphilis is caused by transmission from an infected
Prevent spread mother. Oral mucosal changes such as rhagades, which is a
Restore function. pattern of scarring at the angle of the mouth, may occur. In
In addition, analgesia and adequate hydration must be addition, this disease may cause characteristic dental changes
maintained. Removal of the cause is essential to cure an such as Hutchinsons incisors (the teeth taper towards the
orofacial infection arising from a dental source. This usually incisal edge rather than the cervical margin) and mulberry
means extraction or endodontic therapy. molars (globular masses of enamel over the occlusal surface).
498 Hutchison's Paediatrics
Tuberculosis
Tuberculous lesions of the oral cavity are rare; however,
tuberculous lymphadenitis affecting submandibular and
cervical lymph nodes is occasionally seen. These present as
tender enlarged nodes that may progress to abscess formation
with discharge through skin. Surgical removal of infected
glands produces a much neater scar than that caused by
spontaneous rupture through skin if the disease is allowed
to progress.
Cat-Scratch Disease
This is a self-limiting disease, which presents as an
enlargement of regional lymph nodes. It is caused by
rickettsiae like agent (Rochalimaea quintana). After Fig. 23.40: Candidal infection
successful cultivation, the new species has been named
R. henselae. The nodes are painful, and enlargement occurs Protozoal Infections
up to 3 weeks following a cat-scratch. The nodes become Infection by Toxoplasma gondii may occasionally occur
suppurative, and may perforate the skin. Treatment often in children; the principle reservoir of infection being
involves incision and drainage. cats. Glandular toxoplasmosis is similar in presentation
to infectious mononucleosis, and is found mainly in
Key Learning Points children and young adults. There may be a granulomatous
The principles of treatment of acute infection: Remove the reaction in the oral mucosa, and there can be parotid gland
cause; institute drainage; prevent spread, and restore function. enlargement. The disease is self-limiting, although, in
Impetigo may be caused by staphylococci and streptococci, severe infection, an anti-protozoal such as pyrimethamine
and can affect the angles of the mouth and lips. may be used.
Streptococcal infection in children may cause nasal discharge, Key Learning Points
tonsillitis, pharyngitis and gingivitis.
Neonatal candidiasis can be contracted in the birth canal.
Candidal infections can occur in children following antibiotic
Fungal Infection therapy.
Candidiasis
Neonatal acute candidiasis (thrush) contracted during birth ANOMALIES
is not uncommon. Likewise, young children may develop
the condition when resistance is lowered, or after antibiotic Anomalies in Number of Teeth
therapy. The white patches of Candida are easily removed Alterations in tooth number result from problems during
to leave an erythematous (Fig. 23.40) or bleeding base. dental development. In addition to hereditary patterns
Treatment with nystatin or miconazole is effective [those producing extra or missing teeth, local aetiological factors
under 2 years of age should receive 2.5 ml of a miconazole can also affect tooth number.
gel (25 mg/ml) twice daily; 5 ml twice daily is prescribed
for those under 6 years of age, and 5 ml four times a day for Hyperdontia
those over 6 years of age]. Hyperdontia (supernumerary teeth) occurs in both primary
and permanent dentition; its incidence in the permanent
Actinomycosis dentition is around 13%, and affects male twice as often as
Actinomycosis can occur in children, and may follow females. The most common position for an extra tooth is the
intraoral trauma including dental extractions. The organisms maxillary midline (Figs 23.41A and B). Several syndromes
spread through the tissues, and can cause dysphagia if the are associated with hyperdontia, and the following conditions
submandibular region is involved. Abscesses may rupture all require referral to a dental surgeon.
onto the skin, and long-term antibiotic therapy is required. Cleidocranial dysostosis
Penicillin should be prescribed and maintained for at least 2 Gardner syndrome
weeks following clinical cure. Crouzons syndrome (Craniofacial dysostosis).
Paediatric Dentistry 499
A B
Figs 23.41A and B: (A) Radiograph showing unerupted supernumerary teeth; (B) Clinical picture showing erupted supernumerary teeth
Macrodontia
Macrodontia (large teeth) can also be classied as three types:
1. True generalized macrodontiaseveral teeth are larger
than normal; seen in pituitary gigantism.
2. Relative generalized macrodontiateeth are normal, or
slightly larger than normal in small jaws.
3. Macrodontia of a single tooth is relatively uncommon.
An isolated tooth displaying macrodontia can result
from twinning abnormalities that originate during
Fig. 23.42: Congenitally absent teeth the proliferation phase of development. Fusion and
gemination are the most common twinning abnormalities,
Hypodontia
and both demonstrate enlarged crowns.
Hypodontia is the term given to the congenital absence of
teeth (Fig. 23.42). It is most commonly hereditary, and Double Teeth
affects between 36% of the population (excluding third
Fusion is said to occur when there has been union of two
molars). The mandibular second premolar is the most
commonly missing tooth. Syndromes associated with embryonically developing teeth, and occurs more commonly
hypodontia include: ectodermal dysplasia, achondroplasia, in the primary dentition. The majority of these teeth have
and rieger syndrome. large bid crowns with one pulp chamber. Gemination is
said to occur when there has been incomplete division of
Anomalies in Size of Teeth a single tooth bud and again, occur more commonly in the
Microdontia primary dentition. Again, the appearance is of a large bid
crown with one pulp chamber. As it is difcult to distinguish
Three types of microdontia (small teeth) are recognised: clinically between these two entities, fusion and germination,
1. True generalized microdontiaall teeth are normally the favoured term of double teeth (Fig. 23.43) has now
formed, but smaller than normal; occurs in pituitary more commonly been adopted.
dwarsm.
2. Relative generalized microdontianormal or slightly
Anomalies in Tooth Shape
smaller teeth present in jaws that are larger than normal.
3. Microdontiausually, only one tooth is involved; affects Abnormalities of shape originate during the morpho-
maxillary lateral incisors and third molars; may occur differentiation stage of teeth development, and are manifested
after chemotherapy for neoplastic disease. as alterations in crown and root form.
500 Hutchison's Paediatrics
Dens in dente/dens invaginatus (Fig. 23.44) occurs due to Type IV: Hypomaturation-hypoplastic with
an invagination of enamel, and usually affects the maxillary taurodontism
lateral incisor tooth. Enamel and dentine can be missing in Defects occur during both the apposition and histodif-
the invaginated area leading to pulpal exposure. ferentiation stages; most rare type of enamel defect. Features
include patchy areas of reduced enamel thickness leading
Taurodontism to loss of interproximal contacts, taurodontism and severe
Taurodontism occurs when there has been an abnormality attrition. Radiographically, the radiodensity of enamel
in root formation. It occurs in 0.55.0% of the population. resembles dentine.
Paediatric Dentistry 501
Fig. 23.45: Hypomaturation form of amelogenesis imperfecta Fig. 23.47: Chronological banding seen in tetracycline staining
Anomalies in Cementum
Developmental defects involving cementum are uncommon.
Hypophosphatasia
This is a rare cause of premature mobility of the teeth.
Other features are: low serum alkaline phosphatase levels;
osteoporosis with bone fragility, and failure of cementum
formation leading to premature loss of primary incisors.
Key Learning Points
Anomalies of enamel and dentine can be very painful as well
Fig. 23.49: Blue sclera seen in osteogenesis imperfecta
as unsightly, and these children should be seen by a specialist
in paediatric dentistry.
Type I dentinogenesis imperfecta is associated with osteo-
genesis imperfecta.
DENTOALVEOLAR TRAUMA
Prevalence and Aetiology
Dental trauma in childhood and adolescence is common. At
5 years of age, 3140% of boys and 1630% of girls will
have suffered some dental trauma; so will have 1233% of
boys and 419% of girls at 12 years of age. Boys are affected
almost twice as often as girls in both the primary and the
permanent dentitions.
Fig. 23.50: Dentinogenesis imperfecta The majority of dental injuries in the primary and
permanent dentitions involve the anterior teeth, especially the
Shields type II (hereditary opalescent dentine)primary maxillary central incisors. The mandibular central incisors
and permanent dentitions are equally affected. Features and maxillary lateral incisors are less frequently involved.
are same as shields type I except there is no osteogenesis The most accident-prone times are between 2 years and
imperfecta. 4 years for the primary dentition, and 7 years and 10 years
Shields type III (brandywine type)teeth have a shell- for the permanent dentition. In the primary dentition, co-
like appearance with bell-shaped crowns; occurs ordination and judgement are incompletely developed, and
exclusively in an isolated group in Maryland, USA called the majority of injuries are due to falls in and around the
the brandywine population. home as the child becomes more adventurous and explores
its surroundings. In the permanent dentition, most injuries
Dentine Dysplasia
are caused by falls and collisions while playing and running,
These are inherited dentine defects involving circumpulpal although, bicycles are a common accessory. The place
and root morphology; classied into two types: of injury varies in different countries according to local
Shields type Iboth primary and permanent teeth customs, but accidents at school remain common.
exhibit normal crown morphology, multiple periapical Sports injuries usually occur in teenage years, and are
radiolucencies, short roots, and absent pulp chambers. commonly associated with contact sports such as soccer,
Shields type IIamber coloured primary teeth. Permanent rugby, ice hockey, and basketball.
teeth are normal in appearance, but radiographically Injuries due to road trafc accidents and assaults are
demonstrate thistle-tube shaped pulp chambers. most commonly associated with the late teenage years and
adulthood, and are often closely related to alcohol abuse.
Odontodysplasia (Ghost Teeth) One form of injury in childhood that must never be
These teeth show a localized arrest in tooth development forgotten is child physical abuse or non-accident injury. Up
due to regional vascular developmental anomaly. The teeth to 50% of these children will have orofacial injuries.
Paediatric Dentistry 503
Dental History
When did injury occur? The time interval between injury
and treatment signicantly inuences the prognosis of
avulsions, luxations, crown fractures with or without
pulpal exposures, and dentoalveolar fractures.
Where did injury occur? May indicate the need for
tetanus prophylaxis.
How did injury occur? The nature of the accident can yield
information on the type of injury expected. Discrepancy
between history and clinical ndings raises suspicion of
nonaccidental injury. Fig. 23.51: Avulsion injury to upper right primary central incisor
Lost teeth/fragments? If a tooth or fractured piece cannot
be accounted for when there has been a history of loss is risk of damage to the underlying permanent incisor (Fig.
of consciousness, then a chest radiograph should be 23.51).
obtained to exclude inhalation. Due to the patients age, few restorative procedures will be
Previous dental history? Previous trauma can affect possible and in the majority of cases, the decision is between
future prognosis. An idea of previous dental treatment extraction and maintenance without performing extensive
carried out will help decide on what treatment is possible. treatment. A primary incisor should always be removed if its
maintenance will jeopardize the developing tooth bud.
Intraoral Examination
Injuries to the Permanent Dentition
This must be systematic, and include the recording of:
Laceration, haemorrhage, and swelling of the oral mucosa Most traumatized teeth can be treated successfully. Prompt
and gingiva. Any lacerations should be examined for tooth and appropriate treatment improves prognosis.
fragments, or other foreign material. Lacerations of lips
Emergency Treatment
or tongue require suturing but those of the oral mucosa
heal very quickly, and may not need suturing. Orofacial Retain vitality of fractured or displaced tooth
signs of nonaccidental injury (NAI) may present in this Treat exposed pulp tissue
manner. Reduction and immobilization of displaced teeth
Abnormalities of occlusion, tooth displacement, fractured Antiseptic mouthwash, antibiotics, and tetanus prophy-
crowns or cracks in the enamel. laxis
The following signs and reactions to tests are particularly Advise soft diet.
helpful:
Mobility: Degree of mobility is estimated in a horizontal Injuries to the Hard Dental Tissues and the Pulp
and a vertical direction. When several teeth move Enamel-dentine fracture: Immediate treatment is necessary
together, a fracture of the alveolar process is suspected. due to the involvement of dentine (Fig. 23.52). The pulp
Excessive mobility may also suggest root fracture or requires protection against thermal irritation and from
tooth displacement. bacteria via the dentinal tubules. Restoration of crown
Reaction to percussion: In a horizontal and vertical morphology also stabilizes the position of the tooth in the
direction, and compared against a contralateral uninjured arch. Emergency protection of the exposed dentine should
tooth. A duller note may indicate root fracture. be carried out as soon as possible; refer to a dental surgeon.
Colour of tooth: Early colour change is visible on the Enamel, dentine, pulp fracture: Immediate treatment is
palatal surface of the gingival third of the crown. required which will involve treatment of the pulpal tissue;
refer to a dental surgeon (Fig. 23.53).
Injuries to the Primary Dentition
Root fracture: Root fractures occur most frequently in the
During its early development, the permanent incisor is middle or the apical third of the root (Fig. 23.54). The
located palatally to and in close proximity with the apex of coronal fragment may be extruded or luxated. Luxation is
the primary incisor. With any injury to a primary tooth, there usually in a lingual or palatal direction.
504 Hutchison's Paediatrics
Fig. 23.55: Extrusive and lateral luxation injury Fig. 23.58: Replanted avulsed teeth ready for splinting
7. The childs reaction to other people, and to any ORAL MANIFESTATIONS OF SYSTEMIC DISEASE
medical/dental examinations.
8. The general demeanour of the child. In addition to specic pathological oral conditions, diseases
9. Any comments made by child and/or parent that give that affect other systems of the body can present oral
concern about the childs upbringing or lifestyle. manifestations; for example, Crohns disease. Disorders
10. History of previous injury. such as chronic renal failure and diabetes can predispose
Key Learning Points to periodontal disease, and there may be poor resistance to
spread of odontogenic infection.
Following dental, quickly assess whether the patient has more
pressing injuries elsewhere. If not, expedient dental treatment The temporomandibular joint can be involved in
is required especially if a permanent tooth has been avulsed. juvenile idiopathic arthritis, and the jaws can be affected in
If a permanent tooth has been avulsed, it should be placed hyperparathyroidism (giant cell tumours).
back in the socket as soon as possible; if this is not possible, Not only can the oral soft tissues be affected by systemic
place it in cold fresh milk handling only by the crown. conditions, but the physician should also be alert about
When dealing with dental trauma, always consider the
the fact that the oral mucosa may exhibit signs that help to
possibility of nonaccidental injury.
diagnose a systemic condition.
Rosemary Anne Hague
C H A P T E R
Immunity and Allergy 24
In order to grow and develop normally, we have to develop Mucous Membranes
methods of protecting ourselves from organisms which have
These are body surfaces not covered by skin. They are
the potential for invasion and to cause damage. Pathogenesis
therefore protected by viscous mucus which traps micro-
of infectious disease is not only dependent upon characteristics
organisms, and by washing. For example, tears wash
of the pathogen, but also upon our immune response to
organisms from the conjunctiva, and saliva and chewing of
it. As children develop from foetal life through infancy
food has the same function in the mouth.
into childhood, so their immune systems are continuing to
mature. Hence susceptibility to different infectious agents The Respiratory Tract
varies with age.
The nasal turbinates are designed to trap large particles,
COMPONENTS OF THE IMMUNE SYSTEM preventing their travelling down the respiratory tract.
Smaller particles get further down, but cough and irritant
The first line of defence against infection is the physical receptors stimulate cough and bronchoconstriction, enabling
barrier formed by the skin and mucous membranes. them to be cleared. The mucociliary blanket is the chief
means of clearing the respiratory tract from the smallest
The Skin
bronchioles to the larynx. In addition, compounds secreted
The epidermis is made up of four layers of densely packed onto the surface of the respiratory epithelium enhance
cells, through which bacteria cannot penetrate. The outer bacterial killing. These include lysozyme, transferrin,
layers are shed, taking organisms with them. Its dryness, alpha 1 antitrypsin, opsonins, interferon, as well as
together with the high salt content due to sweat, and low immunoglobulins and complement.
pH due to sebum and lactobacilli inhibits bacterial growth.
Sweat also contains lysozyme, which is an antimicrobial The Gastrointestinal Tract
enzyme particularly for gram-positive organisms. Sebum
from hair follicles contains lipids, salts and proteins which In contrast to the respiratory tract, where potential pathogens
have antimicrobial properties, but it also provides nutrition are swept proximally, in the gut, peristalsis keeps bacteria
for commensal organisms such as corynebacteria. Skin cells moving distally to be eliminated. Gastric acid creates
can also secrete antimicrobial peptides such as cathelicidins, a stomach pH which is toxic to many bacteria, and those
defensins and dermcidins. These peptides do not only have a surviving to pass into the small intestine encounter bile and
direct effect, but they also stimulate components of the innate pancreatic secretions. The gut is not a sterile environment,
and adaptive immune system. Organisms which are able to and the normal gut flora is important in keeping pathogenic
colonise the skin surface inhibit pathogens, and many secrete bacteria at bay. The intestinal wall is protected from invasion
proteins toxic to other species, known as bacteriocins. by these organisms by intestinal mucins which bind potential
Cells of the innate immune systems (Langerhans cells, pathogens. Molecules such as lysozyme and immunoglobulins
mast cells) and adaptive immune system (lymphocytes) are are secreted onto the epithelial surface. The epithelial cells
also found in the dermis should the superficial epidermis be themselves are joined by tight junctions, which limit the
penetrated. passage of antigens across the barrier.
Immunity and Allergy 509
B E
Figs 24.3a to e: Basic structure of immunoglobulin and classes
Cells of Adaptive Immune System A small portion is preserved and then presented on the
surface of the cell associated with molecules of the major
T Cells
histocompatibility complex (MHC). The T cell receptor
These are the co-ordinators and regulators of specific
binds to this complex, and is activated, as illustrated in
immunity. They interact with cells of the innate immune
Figure 24.4. Macrophages function both as phagocytes and
system (antigen presenting cells) and with B cells, and
produce cytokines which stimulate or suppress the activity of antigen presenting cells, whereas the major role of dendritic
other inflammatory cells. cells is to capture antigen for presentation. Other cells, such
as B cells and virus infected cells, can also present antigen
Antigen Presentation and T Cells + MHC.
In the process of phagocytosis and elimination of organisms T cells are classified according to their surface markers
within the phagosome, not all foreign protein is destroyed. and function.
512 Hutchison's Paediatrics
B Cells
These bone marrow derived cells are the immunoglobulin
factory. The immunoglobulin which is bound to the surface
binds antigen, and with T cell help, the B cells proliferate.
Once stimulated with antigen, IgM producing plasma cells
are formed, while other B cells become memory cells. If
exposed to the same antigen again, these produce mature
plasma cells, and a larger IgG response. B cells respond to
polysaccharide antigen (surrounding encapsulated organisms)
Fig. 24.4: Antigen presentation
without T cell help, but the response is limited, resulting
mainly in IgM, and no B cell memory.
T Helper Cells
These have the CD4 marker. They recognise antigen WHY ARE NEONATES AND INFANTS PRONE
associated with class II MHC. TO INFECTION?
Th1 cells differentiate under the influence of interferon Cells of the immune system develop early in foetal life.
gamma and IL12. Activation leads to release of IL2, However, the main defences at this stage are the physical
interferon gamma and tumour necrosis factor (TNF). barriers of the uterus and the placental barrier. Infants born
These stimulate cytotoxic T cells and cell mediated prematurely lack the same degree of physical protection,
immune responses, including delayed hypersensitivity with thinner skin and less effective mucous membranes, in
Th2 cells are the main co-ordinators of B cell responses. addition to immature immune responses.
They possess CD40 ligand which binds to CD40 on By the time of birth at term, physical barriers have
the immature B cell surface. This lead to B cell isotype matured. Acute phase proteins are present, but neonates lack
switching and production of B cell memory cells. The terminal components of complement activation, particularly
main cytokine involved is IL4. Activation of Th2 also C9. These are important for lysis of gram- negative bacteria,
leads to stimulation of IgE production, and so mediates such as E. coli, to which infection they are particularly
immediate hypersensitivity susceptible.
Th0 cells initially produce both Th1 and Th2 cytokines. Neutrophils comprise only 10% circulating white cells
However, either response may predominate, depending in the second trimester, but 5060% by term. However,
on genetic predisposition, type of antigen exposure, and neonates often respond to sepsis with neutropenia. Their
influence of co-stimulatory molecules neutrophils do not adhere as well to the endothelium,
inhibiting migration. Chemotaxis and phagocytosis are less
Cytotoxic T Cells efficient, but bacterial killing and antigen presentation is as
good as in adults.
These are characterised by the CD8 marker, which binds to T cell numbers are greater in infancy than in adult life,
MHC class I. They are responsible for killing virus infected but the majority of them are nave, whereas in adults, they
cells. are primed to proliferate rapidly following repeated antigen
exposure. Cytokine production, cytotoxicity, delayed
The Thymus and T Cell Immunity hypersensitivity, and B cell help are all reduced.
Early in foetal life, immature lymphocytes enter the thymus. During the last trimester, maternal immunoglobulin
Once within, the genes which encode for the variable region (IgG) crosses the placenta, conferring passive immunity to
of the T cell receptor are sequentially rearranged. This the neonate. B cells are present at birth, and can differentiate
Immunity and Allergy 513
Immune deficiency should also be considered in children Jitteriness/seizures due to hypocalcaemia or heart
who have other features of a syndrome known to be failure/cyanosis due to congenital heart disease
associated with immune problems, such as di George, ataxia may indicate di Georges
telangiectasia (AT), Wiskott Aldrich, etc. Early diagnosis Petechiae/bleeding from cord in Wiskott Aldrichs
(before the onset of severe infections) can sometimes be Severe erythroderma in congenital graft versus
achieved by taking note of abnormal results of tests performed host disease
for other reasons, for example, neutropenia or lymphopenia Neonatal sepsis in reticular dysgenesis and severe
from a full blood count. neutropenia and severe T cell defects
Time of cord separation: Delay associated with
The Diagnosis of Immune Deficiency lymphocyte adhesion defect
Other medical problems:
The History Growth problems
From this information, a number of patterns may emerge: Severe failure to thrive in T cell defects
invasive bacterial infections, problems with opsonisation Short stature in Bloom syndrome
(complement, immunoglobulin), phagocyte numbers or Developmental delay/neurological problems
function (chemotaxis, phagocytosis and killing), recurrent Ataxia telangiectasia
infection with encapsulated organisms, etc. Purine nucleoside phosphorylase deficiency
A careful history is the key to diagnosis throughout HIV
medicine, and immune deficiency is no exception. A detailed Skin problems
history should include: Eczematoid dermatitis and abscesses in Hyper-
Documentation of episodes of infection, their frequency, IgE
their course, character, duration, treatment given, effect of Recurrent abscesses in CGD
treatment, necessity for hospitalisation, clinical diagnosis Eczema and petechiae in Wiskott Aldrichs
given, and whether confirmatory tests performed. Skin sepsis in antibody deficiency, neutrophil
From this information, a number of patterns may disorders, complement defects.
emerge: immunoglobulin, phagocyte numbers or function Immunisations given and reactions:
(chemotaxis, phagocytosis, killing, etc.). Neonatal BCG: reaction/disseminationT cell
Recurrent infections with encapsulated organisms: deficiency, interferon gamma/IL12 dysfunction
antibody deficiency, complement defects (especially Symptomatic disease following live vaccine, e.g.
recurrent meningococcal disease), etc. measlesT cell function
Recurrent/persistent/severe viral infections: Cytotoxic Abscess/reaction at site; neutrophil function
T cells, NK cells, etc. complement.
Fungal infections: neutrophil number/function, T Allergies
cell function, etc. Current and past medication, including over the
Opportunistic pathogens, e.g. pneumocystis: T cell counter and alternative/herbal remedies
function Family history:
Periodicity of infections: problems occurring at 3 weekly Family members with similar features
intervals, particularly associated with mouth ulcers is Deaths early in life
suggestive of cyclical neutropenia Consanguinity.
Age of onset: Social history:
From birth suggestive of cellular defect, e.g. Housing
congenital neutropenia, T cell immunodeficiencies Occupants of house
69 months: recurrent sinopulmonary infection Attendance at nursery/school
suggestive of antibody deficiency Risk behaviours for blood-borne virus infection
After 2 years of ageconsider common variable Parental occupations
immune deficiency. Smoking
Birth history: Pets/animals/birds.
Gestation
Birth weight: intrauterine growth retardation is Diagnostic Tests
associated with nutritional immune dysfunction and Selection of appropriate tests should depend upon the
specific syndromes differential diagnosis obtained as a result of the history and
Neonatal problems: examination, and also on the resources available.
Immunity and Allergy 515
Neutrophil count will identify chronic neutropenia. Serial Test for Humoral Immunity
tests over a 3 weeks period are needed to diagnose cyclical
neutropenia. A neutrophil leucocytosis is seen in disorders Immunoglobulin Assays
of neutrophil function such as chronic granulomatous disease
(CGD) and lymphocyte adhesion defect. Normal plasma concentration of immunoglobulin classes
also vary with age. Low levels of all classes are found
Lymphocyte count is low in T cell immunodeficiencies in T cell immunodeficiencies, such as severe combined
such as Severe Combined Immunodeficiency. Note that the immunodeficiency, and in antibody deficiencies such as
lymphocyte count is normally higher in infants, so values X-linked agammaglobulinaemia (XLA). High levels are
persistently below 2.8 109/L should prompt further found in chronic infection, CGD and HIV.
investigation.
Platelet count and platelet size is reduced in Wiskott Aldrich B Cell Function
syndrome. B cell function can be assessed by measuring the titre of
Blood film microscopy may identify Howell Jolly bodies in antibody to a specific antigen following exposure to the
asplenia. antigen, for example, anti-tetanus antibody, pre- and
post-vaccination. Antibody to Pneumococcus can also be
Tests of cell mediated immunity measured, but as this is a polysaccharide antigen, children
under 2 years do not normally respond.
Skin Testing
Phagocyte Function
Delayed hypersensitivity is mediated by cell mediated
responses, and so it is possible to test for this in vivo. The There are no reliable tests of chemotaxis. The respiratory
problem in infants and children under 2 years is to find a burst can be measured using the nitroblue tetrazolium test
(NBT) during which normal cells phagocytose the colourless
suitable antigen to which they have previously been exposed
dye and reduces it to a purple compound. Neutrophils from
and sensitised. Children who have had BCG may respond
children with CGD phagocytose normally, but there is no
to tuberculin, and those who have had tetanus immunisation
colour change.
may respond to tetanus toxoid. Candidal antigen may also be
used. Testing involves an intradermal injection of the antigen, Complement Function
and recording of the resulting erythema and induration at
2448 hours. It is possible to measure levels of individual complement
componentsthe most straightforward being C3 and C4.
Lymphocyte Subset Quantification CH50 is a dynamic assay of total haemolytic complement,
and is reduced in defects of the classical pathway.
If monoclonal antibodies labelled with fluorochrome are
generated against lymphocyte surface markers, they can be Genetic Tests
used to identify lymphocyte subsets using a flow cytometer
or fluorescence activated cell scanner (FACS) machine. The Chromosome analysis can diagnose conditions such as di
commonest monoclonals used are against CD3 (all mature George syndrome, which is associated with a deletion on
T cells), CD4, CD8, CD19/20 (B cells) and CD16/56 (NK q22. The exact genetic defect has been identified for some
cells). Normal ranges for numbers and proportions vary with inherited immune deficiencies, and in these analyses of DNA
age. or assay of the gene product (e.g. B tyrosine kinase in XLA)
can be performed.
Lymphocyte Function
PRIMARY IMMUNODEFICIENCY DISORDERS
In vitro, this can be assessed by incubating lymphocytes
with mitogens such as phytohaemagglutinin and pokeweed These conditions are individually quite rare, with an estimated
mitogen. The degree of proliferation is measured by prevalence of 1 in 5,000 population. The commonest are
assessing the uptake of tritiated thymidine, compared to that antibody deficiencies, accounting for approximately 65% total,
of a normal control sample. cellular deficiencies comprise 20%, phagocytic disorders 10%
516 Hutchison's Paediatrics
and complement disorders 5%. Those with an autosomal circulating immunoglobulin. Children are normal at birth,
recessive mode of inheritance may be more common in protected by passive maternal antibody, but develop recurrent
societies with a high incidence of marriage within the bacterial infections, particularly sinopulmonary infections,
extended family. usually becoming symptomatic between 6 and 18 months of
age. As T cell function is normal, they cope with childhood
Severe Combined Immune Deficiency exanthemata such as varicella normally. Immunoglobulin
Severe combined immune deficiency (SCID) is a group can be replaced with regular intravenous or subcutaneous
of conditions characterised by low or absent T cells and infusions, and in those who are treated adequately, prognosis
hypogammaglobulinaemia. B and NK cell numbers may is good. Ongoing problems with chronic sinusitis, purulent
be normal or absent, depending on the type. It may present rhinitis, and conjunctivitis, can occur despite replacement,
with congenital graft versus host disease due to engraftment and chronic lung disease is particularly likely in those not
of maternal T cells, or following neonatal transfusion of maintaining adequate trough levels of immunoglobulin.
non-irradiated blood. More commonly, the infant develops
recurrent or chronic mucocutaneous candidiasis, chronic CD40 Ligand Deficiency
diarrhoea and failure to thrive due to persistent viral This condition is also X-linked and shares many characteristics
gastroenteritis, and chronic respiratory viral infection (e.g. with XLA. However, CD40 ligand is a T cell receptor,
RSV, adenovirus) leading to respiratory failure. Acute sepsis binding with CD40 on the B cell to enable B cell proliferation
can occur, as can opportunistic infection with agents such as and isotype switching. Children with this condition have
pneumocystis and cytomegalovirus. Without treatment (bone normal numbers of circulating B cells, and normal or high
marrow transplantation) it is unusual to survive beyond levels of serum IgM, but absent IgG, IgA and IgE. This T
the first year of life. There are X-linked (e.g. common cell ligand has other functions in host defence, in addition to
gamma chain deficiency) and autosomal recessive (e.g. B cell stimulation, so unlike XLA, children can present with
ADA deficiency) forms of the condition, and for some the pneumocystis carinii pneumonia and fail to clear pathogens
underlying defect is unknown. such as Cryptosporidium. Even with immunoglobulin
replacement, the prognosis is much poorer. This is due to the
Di George Syndrome risk of liver failure due to sclerosing cholangitis, which may
The main features of this syndrome are conotruncal cardiac result from chronic biliary infection with organisms such as
anomalies (e.g. interrupted aortic arch, truncus arteriosus), Cryptosporidium, and of malignancy, particularly abdominal
hypocalcaemia, and hypoplastic or absent thymus. Children malignancies.
with this syndrome have characteristic facies, with
hypertelorism, antimongoloid slant of the eyes, micrognathia, Common Variable Immunodeficiency
cleft or high-arched palate, and ear malformations. These This is another form of antibody deficiency, but unlike
defects are due to failure of migration of neural crest cells into XLA, symptoms can start at any age, but after 2 years at
the 3rd and 4th pharyngeal pouches early in embryological the earliest. The most common presentation is with recurrent
life. This is commonly associated with a microdeletion on or chronic sinopulmonary infection, which can lead to
chromosome 22 (q2211). Many cases are sporadic, but there chronic lung disease. These children have B cells, but
is, therefore, an autosomal dominant inheritance. low levels of immunoglobulin, and poor or absent specific
Most children present with symptoms of their congenital antibody responses. In addition to infections, they may
heart disease or with neonatal hypocalcaemia, and although develop granulomatous disease or autoimmune features,
they may have low T cell numbers compared with normal and have an increased risk of malignancy. Treatment is with
infants, immune function is well-preserved. However, immunoglobulin and antibiotic prophylaxis.
those with absent or severely hypoplastic thymus can have
features of severe T cell immunodeficiency similar to SCID. Chronic Granulomatous Disease
They can have normal immunoglobulin levels, but reduced This is a disorder of phagocytes in which there is a defect
specific antibody production. There is also an increased risk in NADPH oxidase, the enzyme involved in the respiratory
of autoimmune disease. burst. There are both X-linked and autosomal recessive
forms of the disease. Children with CGD are at particular
X-linked Agammaglobulinaemia risk of infection.
This condition is due to a lack of the enzyme B tyrosine kinase With catalase positive bacteria (such as Staphylococcus
(btk) which is essential for B cell maturation. Circulating organisms and coliforms) and fungi such as Aspergillus, they
B cell numbers are very low or absent, as are levels of can present with recurrent lymphadenitis, invasive bacterial
Immunity and Allergy 517
Complement Deficiencies
These are individually very rare, and tend to present with
recurrent bacterial infection, due to poor opsonisation,
glomerulonephritis, or features suggestive of rheumatological
disease. Some, such as properdin deficiency, lead to increased
susceptibility to infection with encapsulated organisms,
particularly Neisseria meningitidis, which should be
considered if children present with recurrent meningococcal
disease. It has X-linked inheritance. Fig. 24.6: Telangiectasia on the bulbar conjunctivae
Type I (Immediate/Anaphylactic)
Symptoms occur within minutes/hours of exposure to the
allergen, which forms a complex with specific IgE and is
bound to the surface of effector cells, such as mast cells
(Fig. 24.7A). This leads to the release of chemical mediators Fig. 24.7C: Type III reaction
which cause the changes associated with observed symptoms
anaemia, Goodpastures syndrome, and some drug induced
and signs, for example, vasodilatation, capillary leak,
cytopenias.
bronchoconstriction, increased gut peristalsis. This is the
mechanism behind peanut allergy, drug reactions, allergic Type III (Arthus/Immune Complex)
rhinitis and acute asthma.
In these reactions, antibody is bound to antigen to form
immune complexes, some of which are cleared by the
Type II (Cytotoxic)
reticuloendothelial system. However, some are deposited
In this reaction, antibody (IgG or IgM) binds directly to in blood vessels or tissues, inducing complement activation
tissue bearing the specific antigen, resulting in complement and tissue damage (Fig. 24.7C). This is the pathogenesis of
activation and tissue damage (Fig. 24.7B). Examples are serum sickness and glomerulonephritis.
transfusion reactions, to which all are susceptible, but
they also occur in diseases such as autoimmune haemolytic Type IV (Delayed/Cell Mediated)
Unlike the first three types, delayed hypersensitivity is
not mediated by antibody, but by T cells. The maximum
inflammatory response may not occur until 4872 hours after
exposure. As a result of interaction between local antigen
presenting cells (principally dendritic cells) and T cells, T
cells proliferate and produce cytokines which mediate a local
inflammatory response. Reactions are universal following
exposure to antigen such as poison oak or poison ivy.
Induction of this type of reaction is the basis of the tuberculin
skin test (Mantoux).
Some allergic conditions involve both immediate and
delayed hypersensitivity responses to the same stimulus.
For example, exposure to egg in a young child may cause
urticaria and angio-oedema within minutes, due to IgE
mediated hypersensitivity. Forty eight hours later, a flare of
Fig. 24.7A: Type 1 reaction. Pathogenesis of type 1 hypersensitivity. atopic eczema may result from the influx of mononuclear
Exposure to antigen IgE production, mast cell sensitisation cells associated with a type IV response (Fig. 24.7D).
Immunity and Allergy 519
Leukotrienes
These are fatty acids whose active inflammatory metabolites
cause vasodilatation, swelling of the mucosa, increased
mucous production and bronchoconstriction. Metabolism
is governed by the 5-lipoxygenase pathway, which can be
stimulated by certain antigens. They have an important role
in the pathogenesis of asthma and allergic rhinitis.
EPIDEMIOLOGY
MEDIATORS OF THE ALLERGIC RESPONSE
The prevalence of atopic disease varies greatly throughout
T and B Cells the world, being much more common in the developed world
IgE producing plasma cells develop following T cell with Western lifestyle. There has also been a dramatic
stimulation, first of all by cytokines (chiefly IL4) released as increase in prevalence, particularly in the developed world
a result of interaction between antigen (allergen) presented over time. The rise in sensitisation to aeroallergens probably
in association with class II MHC and T helper cells. The began in the 1920s, but the large increase in symptomatic
interaction between CD40 ligand on the TH2 cell and the disease started in the 196070s, with some evidence that the
CD40 B cell receptor is also necessary. In atopic children, rates have now stabilised, with rates of asthma between 20%
there is an increased number of allergen-specific T cells, and 40%, depending on the criteria used, compared with
which when stimulated, produce IL4, IL5 and IL13. These 23% in the developing world. Similarly rates for hay fever,
cytokines induce allergic inflammation by their action on at the age of 16 years are around 2025% in the UK, and 6%
mast cells, basophils and eosinophils. for atopic eczema. Within the developing world, a shift from
rural to urban habitat results in increased prevalence, and
Mast Cells, Basophils and Eosinophils immigrants from areas of low to high prevalence reach rates
These play a large role in the allergic response and resulting similar to the indigenous population in a generation.
inflammation. Their functions have already been outlined.
Why is Atopic Disease Increasing?
Histamine We believe that the immune system is primed to generate
This is the major mediator of type I hypersensitivity. Different predominantly Th1 or Th2 responses to a given stimulus
tissues have different histamine receptors, determining the early on in life. This process may therefore be influenced
response. by the nature of the antigens to which the infant is exposed
H1 receptors are found in blood vessels, and smooth at this stage. In the West, the burden of infectious disease
muscle of the respiratory and gastrointestinal tract. is much lower than in the developing world now, and in
The action of histamine on these receptors results in Western society in the past. Moreover, even in developing
increased vascular permeability, GI muscle contraction, countries where the overall prevalence is still low, there
bronchoconstriction, increased chemotaxis, and is an increased risk associated with change from rural to
decreased chemokinesis urban environment. Some studies have suggested that large
H2 receptors are found in the gastric mucosa, the heart, family size, attendance at day nursery, and living on a farm,
uterus and central nervous system. Stimulation results in particularly with animals are all associated with a lower
increased gastric acid and pepsin production, increased rate of atopic diseases. The reasons for these differences
chemotaxis and chemokinesis, with a negative effect on are complex. A popular theory is the hygiene hypothesis,
lymphocytotoxicity, and on further histamine production which in some ways is a misleading title, as it could imply
Both types of receptor contribute to vasodilatation, that good standards of hygiene are bad for your health,
flushing, headache, tachycardia, hypotension, and the which is far from the case. It is certainly true, however,
wheal and flare reaction that one of the most striking differences between rural life
520 Hutchison's Paediatrics
Like other atopic disorders, the incidence of food allergy Exercise Induced Anaphylaxis
has been increasing. This is reflected in the number of children
This is very unusual before teenage years. It occurs when
presenting to clinics with symptoms, but also in admissions
ingestion of a particular food is followed within a few hours
to hospital with significant reactions or anaphylaxis. Death
by moderate to intense exercise. Both elements are necessary
from such reactions can occur, but is extremely rare in
to produce the reaction, and so the causal relationship with
childhood (0.006/100,000 children aged 015/year in the
the food allergen may not be made, if a history of tolerating
UK). The prevalence in the UK is quoted in the region of
the same food on other occasions (when such exercise has not
26%, with peanut allergy at 0.8%. Many children with food
taken place) is elicited. Changes in metabolism associated
allergies have other atopic diseases. A third of children with
with the exercise result in the mast cells becoming more
atopic eczema in infancy and 1 in 10 children with asthma
activated, and thus more likely to degranulate after a given
report food related symptoms.
IgE/allergen stimulus. This effect can also be seen in children
In many parts of the world, the commonest food allergens
who normally suffer only mild reactions after exposure to a
in infants and young children are eggs and milk. There is,
food allergen but who may develop anaphylaxis following
however, a wide geographical variation, not only in the
the same degree of exposure, following exercise.
incidence of food allergy, but also in the foods causing these
reactions. In the UK and Australia, peanuts and tree nuts are Latex Allergy
the next most common. Fish is the commonest allergen in
Italy. Sesame allergy is common in the Middle East, seafood Allergy to natural rubber latex is strongly associated with
in Japan and Singapore, and legumes (lentils, peas, beans) in exposure to settings where a lot of latex material is used.
India and Pakistan. Thus health care workers and those exposed to industrial latex
Children who are allergic to one food allergen have have a high risk of developing sensitivity. In children, high
an increased likelihood of also being allergic to related risk groups are those with spina bifida or with genitourinary
foods. For instance, the majority of milk allergic children abnormalities, which is likely to be due to repeated exposure
are also allergic to egg. Allergy to pulses can be associated of mucous membranes to latex urinary catheters. Children
with a history of repeated surgery in the first year of life
with peanut allergy. Those with peanut allergy may also be
are also at risk, presumably because of repeated exposure to
allergic to other nuts and seeds (e.g. sesame seed); although
latex gloves and other latex containing equipment. Because
an allergy to one individual nut (e.g. brazil nut) can occur.
of this problem, other materials, such as nitrile, are being
There can also be cross-reactivity between sensitivity to
substituted for latex where this is possible.
inhaled allergens, and foods. For example, allergy to birch Around half of the children with latex allergy also
pollen is associated with reactions to apples, pears and other experience symptoms on exposure to various foods. These
fruit, and also to hazelnuts. Reactions to melon and banana include banana, avocado, chestnut, potato, kiwi and other
and ragweed sensitivity are similarly related. tropical fruits. In children with allergies to these foods, the
The prognosis for food allergy varies, depending on the possibility of latex allergy should therefore be considered.
allergen. Ninety per cent cows milk allergic infants will Latex is used very widely in clothing, for mattresses,
become tolerant by the age of 3 years. Egg allergy commonly bicycle or wheelchair tyres, balls, erasers, computer mouse
resolves before school age. However, allergies to pulses and mats, etc. Total avoidance of all such products is almost
nuts are usually life long, with only around 5% resolving by impossible, but thankfully seldom necessary. While contact
the age of 7 years. with the skin can lead to urticaria or contact dermatitis,
severe reactions usually occur only after significant mucosal
The Oral Allergy Syndrome or systemic exposure. The main risks therefore surround
Children with this condition develop an itchy mouth and episodes of medical or dental care. If latex allergic children
tongue, sometimes with localised urticaria and swelling need such care, it is very important that every effort is made
after eating a variety of fresh fruit or vegetables. The same to ensure the environment is latex free. Where the risk of
foods may be eaten if they are peeled and/or cooked, as the exposure cannot absolutely be eliminated, for example,
sensitivity is to proteins which are destroyed by this process. during major surgery, pre-medication with hydrocortisone
A common association is that of hay fever symptoms in the and antihistamines is advised, with careful observation peri-
spring and early summer due to allergy to birch pollen and and postoperatively.
symptoms on eating whole apple, while the child can still
drink apple juice. Although symptoms can be unpleasant, Allergic Rhinitis
and their precipitants best avoided, these reactions do not Allergic rhinitis is very common in industrialised societies,
carry a risk of anaphylactic shock. with a prevalence of up to 40% in children. Some suffer
522 Hutchison's Paediatrics
symptoms all year round (perennial rhinitis), whereas for A common acute presentation is urticaria. Although
others the problem is restricted to times of year when there urticaria is one of the signs of immediate hypersensitivity,
is exposure to the causal allergen (seasonal rhinitis). The this is not the only mechanism. Many viral and other
allergens responsible for perennial rhinitis tend to be those infectious agents are associated with an immune reaction
encountered in an indoor environment, such as house dust leading to urticaria which is not IgE mediated. Children
mite, animal dander, etc. Those developing seasonal rhinitis developing such rashes are often diagnosed with allergy.
in the spring are allergic to tree pollen, whereas symptoms
In general, if a child wakes up in the morning in his usual
of grass pollen allergy peak in the mid-summer. Those who
environment with an urticarial rash which lasts for a number
have their main problems in the autumn may be allergic to
leaf mould or weed pollen. of days, and does not resolve with antihistamine, the rash
There are two phases of response. After exposure in a is not due to immediate hypersensitivity, and a trawl for
sensitised child, there is a type I reaction, which in the nasal possible precipitants is unlikely to be helpful.
passages leads to nasal vasodilatation, capillary leak and In children suspected of allergic rhinitis or asthma,
increased mucus production. This leads to nasal congestion a history of nasal and respiratory symptoms should be
and a watery runny nose, with itching and sneezing. In around taken. These include itching, sneezing, rhinorrhoea, nasal
50% of sufferers, this is followed by a late response, induced congestion, worsening of symptoms is the first thing in the
by inflammatory cells, causing ongoing nasal congestion, morning after exposure to allergen the night before, cough,
with runny nose and postnasal drip, which may last for days. (including nocturnal cough), sleep disturbance, mouth
Nasal symptoms are often accompanied by itching of the breathing and snoring. Any seasonal variation should be
eyes (allergic conjunctivitis), ears, throat and palate. noted.
Although the consequences are rarely life-threatening, A past history of any other atopic conditions, e.g. eczema,
these symptoms are a major cause of morbidity in school aged asthma, rhinitis should be taken. In particular, if the child
children. Those who are severely affected with chronic nasal has asthma, it is important to assess how well controlled the
obstruction suffer recurrent or chronic headache, tiredness asthma is, in terms of frequency and severity of symptoms,
and sleep disturbance, sometimes resulting in sleep apnoea.
precipitants of symptoms, and what prophylactic and rescue
It can lead to day time somnolence, poor concentration and
medication the child is using. Any current medication should
poor school performance. The effect on childrens emotional
and psychological development can therefore be profound. be noted, together with details of any adverse reactions to
There is a close association between allergic rhinitis and medications in the past. A picture should be built up of the
asthma. Half of children with asthma also have rhinitis, and childs home environment, or any other place where they
around a third of children with rhinitis also have asthma. regularly spend time, including pets, other animal or bird
Furthermore, allergic rhinitis is a risk factor for the exposure, dust, mould, vegetation, etc.
subsequent development of asthma.
Examination
DIAGNOSIS OF ALLERGY A full general examination may reveal the skin features of
eczema. Those with allergic rhinitis may be obvious mouth-
History breathers with dark rings round the eyes due to suborbital
Once again, a careful history is the key to diagnosis of allergy. oedema. They can also develop an allergic crease across
This should include the nature of symptoms experienced, the the nose just above the tip, formed after constant rubbing,
evolution of symptoms, from the first symptom experienced redness around the eyes, again due to rubbing, and excoriation
onwards, time taken to resolution, and whether any treatment above the upper lip, caused by nasal drip.
was administered. Details of exposure to potential allergens Those with asthma may show signs of chronic chest
should be obtained, and the length of time between the deformity with increased anteroposterior diameter of the chest,
suspected exposure and onset of symptoms. It is important to and splaying of the lower ribs (Harrisons sulcus). There may
take a history of any previous reactions, and their suspected be signs of hyperinflation or wheeze on auscultation.
precipitants in a similar way. Also, a history of any previous
exposure to the same potential allergen, and whether or not Investigations
any symptoms developed is important. It should be noted
Investigation of Acute Anaphylaxis
whether or not related allergens are tolerated. If the suspected
allergen is a food, whether the food was raw or cooked may For children who present with severe symptoms, it can
be relevant, as may the circumstances in which the reaction be difficult to establish clinically whether this is a type I
took place (e.g. following exercise). reaction, or whether the reaction is anaphylactoid. True
Immunity and Allergy 523
Serological Testing
Titres of specific IgE directed against a wide variety of
allergens can be assayed in the blood using RAST or
similar techniques. Such tests are more invasive, and often
more traumatic for children, but can be performed in settings
where no trained staff are available, and the results are not
influenced by antihistamine usage. The concentration of
specific IgE with a high positive predictive value for clinical
hypersensitivity varies between different allergens. For
example a titre of 14 kU/L has a 95% positive predictive
value for peanut allergy. Care should be taken not to over-
interpret results reported as positive, but with lower titres,
Fig. 24.8: Half-life of mast cell tryptase
as highly atopic children may have detectable specific IgE to
anaphylactic reactions are associated with histamine release, many potential allergens which they tolerate with no obvious
which therefore could be measured. However, the rise and adverse effects.
fall in histamine levels following an anaphylactic reaction
is very steep and short-lived, and therefore likely to escape Provocation Test
detection by the time the child presents. This is usually performed to investigate food allergy, but can
True anaphylactic reactions are caused by mast cell be used for other potential allergens, such as latex or drugs. It
degranulation. While it is histamine which is the major can be used when the diagnosis remains uncertain following
mediator of the resulting symptoms, other chemicals, such as the other tests detailed above. It is also useful to determine
tryptase are also released. The half-life of mast cell tryptase whether a child with a history of allergy has become tolerant
in the circulation is considerably longer than histamine (Fig. (e.g. in milk allergy), or to investigate possible non-IgE
24.8). Serial measurements can therefore be taken over the mediated or delayed reactions.
first 12 hours after the reaction, a rise and subsequent fall In an open challenge, the child is gradually exposed
to baseline being indicative of true anaphylaxis. If no such to increasing amount of the allergen until either a reaction
change is demonstrated, an alternative mechanism for the occurs, or until they have tolerated an amount as large as a
symptoms should be sought, and further investigation to normal exposure would be expected to be. This should only
identify a particular allergen is likely to be fruitless. be performed by staff trained in the early recognition and
treatment of reactions and where there are facilities for the
Skin Prick Testing management of anaphylaxis. In a food challenge, the food is
This is a quick method of diagnosing immediate first applied to the skin, then the lips, before small amounts
hypersensitivity. A drop of a standard solution containing are ingested.
the allergen is put on the skin. The most common sites used In a double blind placebo controlled challenge the
are the forearm in older children, and the back in younger allergen is hidden so that the child, the parents and the
children, avoiding skin affected by eczema. A calibrated administering staff are unaware which of two foods/ solutions
lancet is used to prick the epidermis to a depth of a couple of contains the potential allergen. The procedure for each arm
millimetres only. Excess solution is removed, and after 15 is the same as in the open challenge. A sufficient interval
20 minutes, any resulting wheal is measured, and compared between the two arms is necessary to ensure that any delayed
with a positive and negative control. A positive test should symptoms can be attributed to one arm or the other.
have a wheal at least 3 mm greater than the negative control
Patch Testing
or equivalent to the positive control. For some foods, such
as fruits, the fruit itself can be pricked, and then the skin This is often confused with skin prick testing, but this technique
pricked in a similar way (prick test). False-negatives can is used for the diagnosis of delayed (type IV) reactions,
occur if the child has recently taken an antihistamine. While particularly involving the skin, such as contact dermatitis due
it is extremely rare for a systemic reaction to occur as a result to perfumes, metals and other chemicals. Adhesive patches
of this degree of allergen exposure, these test should always containing the allergen are applied to the skin (usually on the
be performed where staff are trained in the management of back) and left in place for 24 hours. Positive and negative
524 Hutchison's Paediatrics
controls are applied to distinguish between true hypersensitivity regarding which foods may contain the allergen, and how
and irritant reactions. Erythema and induration at the site of to avoid them. If children have multiple food allergies, or
contact at 4872 hours is indicative of sensitivity. are allergic to major sources of essential nutrients, such as
milk, it is also important to ensure that their restricted diet
MANAGEMENT OF ALLERGY is nutritionally replete, and they have access to appropriate
substitutes. The input of a paediatric dietician is therefore
Management of Anaphylaxis invaluable.
If a child presents with symptoms which include severe In children allergic to inhaled allergens, such as animal
difficulty in breathing or shock, they should be given high dander, house dust, etc. total avoidance can be impossible.
flow oxygen via a face mask and epinephrine by inframuscular Measures to reduce exposure can, however, be effective
injection (preferably midpoint in anterolateral thigh) of 1 in in controlling symptoms. For those allergic to house dust
1000 (1 mg/ml) solution. A second dose of epinephrine can mite, these include using impermeable covers for mattresses
be given after 5 minutes if there is no improvement after and pillows, and washing bed linen frequently in hot water
the first. Antihistamine (e.g. chlorpheniramine) should (60C), removing soft toys, replacing carpet with hard
also be given parenterally. Hydrocortisone is useful in flooring and minimising soft furnishings.
helping to prevent recurrence of reaction, particularly if Exposure to pollens can be reduced by shutting windows
the precipitating cause has not been completely removed. and doors and limiting outdoor activities on days with high
All children with wheeze as part of the reaction, or who pollen counts. If the child is allergic to animal dander, if
have underlying asthma should also have hydrocortisone to possible the pet should be removed. If this is not feasible,
prevent an acute asthma exacerbation. Its effects are not seen then dogs and cats should be washed frequently (which may
for 46 hours, however, so it has a limited role in immediate not be popular with the animal!) and it should not be allowed
resuscitation. Children with severe shock will benefit from a in the childs bedroom. The animal should be kept outside
bolus of intravenous fluid once IV access can be established as much as possible. Hands should be washed immediately if
(the intraosseus route may be used in young children). the pet is handled.
It is essential that epinephrine is given by the intramuscular
route, the lateral thigh being the most appropriate site. Its Antihistamines
mode of action is to stimulate alpha adrenoreceptors, which For conditions where the allergen cannot be completely
cause vasoconstriction, thus reducing the excess peripheral avoided, such as seasonal rhinitis and conjunctivitis (hay
blood flow and preventing capillary leak. However, beta fever), regular long-acting antihistamines such as cetirizine
receptor stimulation is also required for the bronchodilator and loratidine can be used. These are less sedative than
effect, and also to stimulate myocardial contractility, and first generation antihistamines, and so have less effect on
suppress further release of histamine and other mediators. In cognition, which is important particularly for school aged
addition beta 2 receptor stimulation leads to vasodilatation. children who need to use these on a long-term basis.
These receptors are found in muscle, allowing increased For conditions where the allergen can usually be avoided,
blood flow to muscles (for fight or flight). This means but accidental exposure can occur, such as food allergy, it
that epinephrine administered via this route enters the is important to have antihistamine, such as chlorpheniramine
circulation rapidly, enabling its systemic effects. In contrast, immediately available, so that it can be given at the first
subcutaneous tissue only has alpha receptors. The resulting hint of symptoms of immediate hypersensitivity. This means
local vasoconstriction inhibits the circulation of epinephrine in practice that children or their carers should carry the
from the point of injection, limiting its action. It is therefore medication at all times. It should also be available in schools
important to choose a needle of sufficient length to ensure and other settings where the child spends time, where those
that the muscle is reached. responsible for the childs care should be trained to recognise
In profound shock intravenous epinephrine can be given. and treat the signs of a reaction.
However, it is potentially very dangerous. A more dilute
solution (1:10,000) is used, and it is extremely important that Prophylactic Medications
it is given slowly by a doctor experienced in its use.
Cromoglycate
Allergen Avoidance Cromoglycate is a mast cell stabiliser which also has other
The most important measure in all allergic conditions is anti-inflammatory properties. It is no longer as widely used
to avoid the allergen as far as possible. In food allergic for the prophylaxis of asthma, as it has limited efficacy
children, they and their parents need detailed information compared with inhaled corticosteroids. For those who can
Immunity and Allergy 525
tolerate the irritation on initial application, it is a useful agent emergency situation, to buy time until medical help can be
in allergic conjunctivitis when used regularly. obtained, rather than to be a substitute for it.
Traditional specific immunotherapy involves the Studies suggest that the beneficial effect may be long-lasting
subcutaneous injection of allergen once or twice weekly, as is the case for subcutaneous therapy, and that there may
starting with a dose below that required to cause a reaction, be a similar effect on the subsequent development of asthma.
and gradually building up until a maintenance dose is
achieved, which is greater than that likely to be encountered Future developments
by natural exposure. This can take a considerable amount
of time, and even when the maintenance dose is achieved, DNA Vaccines
periodic injections need to be continued for 23 years. An alternative approach to injecting allergen is to give the
There is a risk of both local and systemic reaction, and cDNA of allergens directly. This approach has been used to
rarely anaphylaxis, and so immunotherapy should only be develop vaccines against infectious diseases and cancer. It has
performed in a setting where staff is trained to deal with been shown that if a plasmid containing sequences encoding
anaphylaxis, and resuscitation facilities are readily available. for the allergen, a specific immune response involving Th1
It also entails multiple injections, which limits its tolerability, and CD8 cells can be induced. Potentially this would mean
particularly in young children, and so this restricts its use in that that a short course of only one or two doses would be
this age group. needed to produce the desired clinical outcome.
This form of immunotherapy has been shown to be
effective in allergy to bee and wasp venom, and also in Anti-IgE
allergies to inhaled allergens, such as tree and grass pollen, Humanised monoclonal antibodies have been produced,
and animal dander, such as cat. The benefits can last for which bind to the high affinity binding site on the IgE
many years after discontinuation of treatment. There is some molecule. Trials have been performed with such products in
evidence that early treatment can prevent further sensitisation asthma, and also in peanut allergy. In asthma, a beneficial
to other allergens. Therapy in children with allergic rhinitis effect on symptoms and also on the requirement for
can also prevent the subsequent development of asthma. It corticosteroids was seen. The role of this mode of therapy in
would appear that it is less effective in children who are asthma management is not yet clear.
allergic to multiple allergens at presentation. It has been tried In peanut allergy, treated patients could tolerate a much
in food allergies, such as peanut allergy, but the problem larger amount of peanut protein before reacting than they were
is finding a small enough starting dose to which the child previously able to do. While this is certainly not a cure as
does not react. There have been attempts made to modify the the effect only lasts while the passive antibody remains in
peanut protein in order to reduce the undesirable IgE mediated the circulation, such treatment may allow the administration
response, while still inducing the immune deviation. So far, of allergen and escalation of therapy in conventional
there has been limited success with these attempts. immunotherapy in children who would previously not have
Because of the difficulties inherent in repeated injections, been able to tolerate sufficient exposure.
alternative routes have been tried. The most successful of At the present time we have little influence over the
these has been sublingual immunotherapy. The allergen underlying disease process, and concentrate mainly on
is placed under the tongue, and subsequently swallowed. avoidance of the precipitating allergen, and treating symptoms
Although some patients do describe itching of the mouth and which arise. We would hope that in the future, research in
tongue, and sometimes abdominal pain after swallowing the this field may lead to developments which enable us to offer
allergen, systemic effects are rare. Preparations are available our patients a true cure, or preferably better strategies for
for use via this route for inhaled allergens such as pollens. prevention of atopic disease.
Jugesh Chhatwal
C H A P T E R
Immunisation Against
Infectious Diseases 25
IMMUNISATION Live Attenuated Vaccines
Immunisation is one of the most important weapons for In this type of vaccine, the microorganisms are subjected to
protecting individuals and the community from serious processes which attenuate their disease causing capabilities
diseases. while retaining the immunity generating components. After
Immunity to an infectious disease can be acquired administration, the microorganisms multiply in the recipient,
through a natural process, e.g. active clinical infection and thus generate an immune response similar to a natural
by a microorganism or a subclinical inapparent infection. infection, e.g. BCG, measles vaccine.
Immunisation is a process of inducing immunity against an
infectious agent, and is generally used in reference to the Toxoids
artificial means of inducing immunity by giving vaccines, i.e. Toxoids are detoxified toxins with the capacity to stimulate
vaccination. Immunisation can also be achieved by a passive formation of antitoxin in the recipient, e.g. tetanus toxoid,
process wherein antibodies to the infectious agent produced diphtheria toxoid.
by another individual or animal who has been exposed to
it, are extracted, and are used to provide protection. These Sub-unit Vaccines
antibodies provide protection for a short duration as their
level decreases over a period of time leading to waning of A part of the microorganism, which has the capability to
immunity. Also, the level of protection provided by such generate the immune response, is utilised for making the
methods is not as good as by the individual's own response. vaccine, e.g. acellular pertussis, vi antigen typhoid vaccine.
The examples of passive immunisation are:
1. Immunoglobulin from human source
Recombinant Vaccines
General non-specific pooled immunoglobulin, e.g. The recombinant vaccines are synthesised using a
intravenous immunoglobulin. nonpathogenic organism carrying immunogenic components
Specific antibodies against an infectious agent, e.g. of the pathogenic organism, e.g. Hepatitis B vaccine. These
antirabies or antitetanus globulins. can be Live Attenuated Vector Vaccines which involve
Transplacental transfer from mother to foetus of incorporation of a pathogens antigenic peptides into a
various immune globulins. harmless carrier virus or bacteria, or chimeric vaccines
2. From animal sources where genes from the target pathogen are substituted for
Pooled sera, e.g. anti-diphtheritic serum (ADS similar genes in a safe but closely related organism. In DNA
diphtheria antitoxin). vaccines, a DNA plasmid encodes a viral gene that can be
expressed inside cells of the animal to be immunised.
Various Types of Vaccines Used for
Active Immunisation Mechanism of Immune Response
Killed Vaccines Lymphocytes play a vital role in generating the immune
The whole infectious agent is killed artificially, and made response following exposure to an antigen which may be either
into a suitable vaccine, e.g. whole cell pertussis vaccine, a microorganism or an exotoxin. For the immune response
cholera vaccine. both types of lymphocytes, i.e. B and T lymphocytes, may
528 Hutchison's Paediatrics
be activated and only the B cells may be involved. When Key Learning Point
the immune response is generated through B lymphocytes
Live vaccines should not be given to children with impaired
only and it is termed as T cell independent and when both
immune response, whether caused by disease or treatment
B and T cells are involved, it is termed T cell dependent. with high doses of corticosteroids or other immunosuppressive
Majority of the antigens, however, require both B and T drugs. In fact, live vaccines should be postponed until
cells to generate antibody production, and are hence T cell at least 3 months after stopping corticosteroids or other
dependent. In children below 2 years of age, T independent immunosuppressive drugs, and 6 months after stopping
response is poorly initiated. chemotherapy or generalised radiotherapy.
After introduction of the antigen into the body, T-helper
cells (CD4) are activated following which, a cascade of
Vaccine Related Factors
mediators is triggered. After the first exposure to the
antigen, as in a primary vaccination, there is a latent
Type of Vaccine
period of 710 days followed by detectable antibodies
in the serum, usually after about 2 weeks. Initially, it is Live vaccines are much more likely to induce an immune
mainly IgM antibodies followed by IgG. IgG antibodies are response similar to a natural infection, and confer longer
produced in peak concentration after about 26 weeks, and period of immunity.
are the most critical for protection against infection. Repeat
Route of Administration
exposure to the same antigen, as in booster vaccination,
leads to humoral or cell mediated response rapidly within The optimal route of administration as specified for a
the first week. particular vaccine should be used. Alternative routes may
The vaccines given orally are usually live attenuated, not be equally effective. Orally administered vaccines lead
and hence after ingestion the infecting agent multiply in the to a secretary IgA response in gut mucosa, which cannot be
intestinal mucosa. This induces an IgA response locally. induced by parenteral vaccine, e.g. oral polio vaccine.
After multiplication in the mucosa, the microorganisms
invade the body further to generate other antibodies. Storage Conditions
Appropriate temperature and other storage conditions are
Factors Affecting Immune Response an absolute essential requirement to maintain potency of
the vaccine. Cold chain, i.e. maintaining the required
Host Factors temperature from the manufacturer to the recipient, is an
Age: Age is one of the critical factors to be considered for essential pre-requisite for effective vaccination.
immunisation. In young infants, presence of placentally
transferred maternal antibodies can interfere with the immune
Adjuvants
response to an antigen, e.g. measles. Also, a relatively Adjuvants are substances that boost the immunogenicity of
immature immune system may not be able to initiate an vaccines. They improve the potency of the immune response
adequate response to the vaccinated antigen. Another factor and enhance immunological memory. They also allow
is the poor immunogenicity of T cell independent antigens in antigen sparing and help in reducing the doses. They act
children less than 2 years of age. Vaccines containing such as immunostimulators or immunopotentiators. Aluminium
antigens have to be conjugated with a compound which has containing compounds have been one of the most frequently
the ability to generate T cell response, e.g. HiB conjugate used adjuvant.
vaccines.
Key Learning Point
Nutrition: Malnutrition of severe degree can decrease
the capability of the host to activate the immune system The intramuscular route should not be used in children with
adequately. bleeding disorders such as haemophilia or thrombocytopenia.
Pre-existing antibodies: Presence of antibodies to the specific Instead, they may be given vaccines by subcutaneous
injection.
vaccinated antigen may interfere with the immune response,
e.g. maternal antibodies.
Immunocompromised status: Any condition leading to an
immunocompromised state either due to a disease, e.g.
ADVERSE EVENTS
malignancy or due to treatment, e.g. prolonged steroid use The present day vaccines, which have been approved for
can impair the immune response to a vaccine. use in children, are expected to be safe. Sometimes, they
Immunisation Against Infectious Diseases 529
Table 25.1: Common adverse events of vaccines be given along with the DPT vaccine during infancy with
Fever of short duration Shock like state a booster in the second year of life. The pneumococcal
DPT DPT
vaccines are specially indicated in splenectomised or likely
Measles Measles (contaminated)
to undergo splenectomy or those with chronic diseases or are
Typhoid Rare events
immunocompromised.
T. toxoid Seizure DPT
The vaccine is given in dose of 0.5 ml intramuscularly
with revaccination after 35 years for polyvalent vaccine.
Local reaction Paralysis OPV
DPT Anaphylaxis measles
Meningococcal Vaccine
Typhoid Guillian Barre T. toxoid
T. toxoid Inconsolable crying DPT Meningococci are capable of causing epidemics of meningitis
Transient rash or severe meningococcemia. In view of these, the vaccine is
Measles indicated for contacts of the patient or in outbreak situations.
Varicella There are mainly five disease causing sero groups, namely
A, B, C, Y, W135. As immunity is specific for sero groups,
can cause certain mild adverse reactions and rarely serious the vaccine use is dictated by the isolation of a particular
events. Various components of the vaccine can lead to an serotype during outbreaks/epidemics. Meningococcal
allergic reaction, e.g. the microorganism, antibiotics or other vaccine is also indicated for immunocompromised children.
stabilising agents used in the vaccine. The usual adverse Unconjugated bivalent (A + C) vaccine is more freely
events and the causative vaccines are shown in Table 25.1. available as compared to conjugated quadrivalent (A, C, Y
and W135) which is also more expensive.
Contraindications
Every child has a right for immunisation, and withholding it Influenza Vaccine
for some common minor illness or for any other reason is not Influenza viral disease is a frequent respiratory morbidity
justifiable. There are few contraindications to vaccination, which can become serious in certain patients. Influenza virus
and one must apply them judiciously so as not to have a is characterised by frequent mutations, antigenic drifts and
missed opportunity for immunisation in a child. shifts. The immunity for the various strains is specific, and
Severe acute illnessinfectious or noninfectious hence to be effective, the vaccine has to incorporate the
Immunocompromised states, especially for live vaccines prevalent antigenic strain. For this vaccine, WHO reviews
History of allergic reaction to vaccine and recommends the inclusion of prevalent strains annually.
Egg allergy in case of egg/chicken protein containing The vaccine is given intramuscularly/subcutaneously to
vaccines children at high risk of flu related morbidity, e.g. those
History of previous severe reaction to DPT with chronic lung/heart disease or immunocompromised.
Recently, variants of the influenza virus such as Swine flu
Box 25.1: Post-immunisation pyrexia in infants
and Bird flu have been responsible for significant morbidity
The parent(s) should be advised that if pyrexia develops after and also mortality. The vaccine against Swine flu has become
childhood immunisation, the infant can be given a dose of paracetamol available as an independent vaccine as well as in combination
and if necessary, a second dose given 6 hours later; ibuprofen may
be used if paracetamol is unsuitable. For post-immunisation pyrexia
with seasonal flu vaccine.
in an infant aged 23 months, the dose of paracetamol is 60 mg; the
Box 25.2: Vaccines and asplenia
dose of ibuprofen is 50 mg.
The following vaccines are recommended for asplenic children or
Less Frequently Used Vaccines those with splenic dysfunction.
Haemophilus influenzae type b (Hib) vaccine
Meningococcal group conjugate vaccine
Pneumococcal Vaccine
Pneumococcal polysaccharide vaccine
Pneumococci cause significant morbidity of upper as well Influenza vaccine
as lower respiratory tract, as well as invasive disease,
especially in children below 2 years of age. A polyvalent Rabies Vaccine
polysaccharide pneumococcal vaccine is available which has Rabies caused by a bite/lick/scratch of a rabid animal, is a
poor immunogenicity in children less than 2 years old, as it fatal disease. The vaccine is usually used as a postexposure
is T-cell independent. A conjugate vaccine is also available prophylaxis, but can be given for routine immunisation
which is effective in the target population of less than 2 for those at higher risk, e.g. handling susceptible animals
years of age, and covers 13 strains of pneumococci. It can (veterinarians, wild life workers, etc.). The older nerve
530 Hutchison's Paediatrics
Vaccine name Type Contents Route Dose Efficacy Storage Age of administration
Temperature
BCG (Bacillus Live attenuated, 0.10.4 million ID 0.1 ml 080% 28C Birth
Calmette freeze dried, bacilli/dose
Gurin) bovine strain
Polio vaccine Live attenuated Trivalent O 2 drops 8090% =<-20C 5 doses in first year starting
I 106 TCID 50 at 0 month and then at 48
week
Oral (Sabin) II 105 TCID 50 interval; Boosters with
III 105.8 TCID 50 DPT
Injectable Killed I 40D IM 0.5 ml >95%
(Salk)
II 8D
III 32D
DPT as 2030 lf 95% 28C
Diphtheria Toxoid IM 05 ml 3 doses in first year starting
toxoid at 68 week and then 48
weeks apart; Boostersat
Pertussis Killed 20 million bacilli 85% 18 months and 5 year
510 lf
Tetanus Toxoid 100%
Hepatitis B Recombinant 10 mcg (up to IM 0.5 ml 94% 28C 0, 1, 6 months
subunit 19 years.)
20 mg
(>19 years)
HiB Conjugate 10 mcg IM 0.5 ml 97% 28C Same as DPT; only 1
capsular
H. influenzae B polysaccharide booster at 18 months
vaccine
Measles Live attenuated 1000TCID50 SC 0.5 ml 95% 28C 69 months
MMR Live attenuated SC 0.5 ml 95% 28C At 15 months age
(Measles)
Mumps 1000TCID50
Rubella 5000TCID50
1000TCID50
Typhoid Capsular After 2 years age; booster
polysaccharide every 23 years
Vi antigen 2530 mcg SC, 0.5 ml 70% 28C
Subunit IM
Above 6 years age; booster
every 3 years
Oral typhoid
vaccine
Ty21a Live attenuated O 3 Capsules 70% 28C
Chickenpox Live attenuated 103.3PFU SC 0.5 ml 95100% 28C 113 years age; single
dose,
>13 years age; 2 doses
1 month apart
Hepatitis A Live attenuated 720 ELU (up to IM 0.5 ml 90100% 28C 2 doses; 6 months apart
19 years)
532 Hutchison's Paediatrics
C H A P T E R
Infectious Diseases 26
DIPHTHERIA toxin affecting the nervous tissues, cardiac muscles, renal
tubules and platelets causes the other serious manifestations.
Aetiology Clinical Features
Diphtheria is caused by Corynebacterium diphtheriae also
The usual incubation period of diphtheria is 25 days. The
known as Klebs-Leffler bacillus. C. diphtheriae is an
major symptoms and signs are related to the respiratory
aerobic, polymorphic, gram-positive bacillus. The disease
tract but other parts of the body can also be affected viz.
causing potential is in the exotoxin produced by the bacillus.
skin (Cutaneous diphtheria) ears, eyes or genital tract.
Three biotypes of the bacillus namely mitis, intermedius and
The presentation due to the local involvement varies
gravis have been differentiated with varying disease causing
according to the site whereas the features due to exotoxin
capabilities.
occur irrespective of the site. The commonest site of
Epidemiology involvement is tonsillopharyngeal area followed by nose
and larynx.
C. diphtheriae resides mainly on human mucous membranes
and skin although it can be viable in dust or on fomites for Nasal
about six months. The disease is transmitted from man to
man, either through carriers or patients. It spreads primarily Frequently resembles common cold. It is seen more often
by airborne droplets or direct contact with respiratory in infants. There is serosanguineous nasal discharge which
secretions. The most susceptible age group is unimmunised maybe unilateral with mild constitutional symptoms. Often
children below 15 years but can occur in unprotected adults there is a membrane seen on the nasal septum.
also. Asymptomatic carriers are an important source of
Tonsillopharyngeal
infection.
The typical membrane is the hallmark of the disease. This can
Pathogenesis have a variable extent from unilateral to bilateral involving
After infection, C. diphtheriae remains in the respiratory all the pharyngeal structures and can lead to respiratory
mucosa. They induce a local inflammatory reaction and obstruction. Accompanying symptoms maybe mild initially
elaborate an exotoxin, which is responsible for the virulence but toxaemia can set in early. The surrounding soft tissue
of the disease. Locally, there is necrosis of the mucous and the draining lymph nodes can enlarge and give the
membrane along with collection of fibrin, leucocytes and appearance of Bull-Neck.
RBCs. Together they form the characteristic dirty grey
coloured membrane seen in the upper airways of a patient Laryngeal
with diphtheria. Attempts to remove this thick adherent The membrane can extend from pharynx to larynx causing
membrane lead to bleeding, as superficial epithelium is part severe respiratory obstruction or difficult, noisy breathing
of the membrane. The membrane can cause life-threatening with hoarse voice and stridor. From larynx the membrane
obstructive respiratory symptoms by blocking the air can further extend to trachea and the respiratory symptoms
passages from pharynx to larynx and even trachea. The can become more severe.
534 Hutchison's Paediatrics
Treatment Epidemiology
The aims of treatment are: Tetanus occurs all over the world. The resistant spores of C.
Decrease the severity and frequency of cough paroxysms tetani are ubiquitous in nature and can be present in several
as much as possible: Initially the episodes of cough dirty objects. They also inhabit the human intestines or
paroxysms should be observed and an assessment of their animal oral cavity and intestines.
severity made. The child should be asked to rest in a Tetanus occurs in unimmunised adults and children
quiet, undisturbed environment with minimal essential exposed through dirty or contaminated injuries and wounds.
lighting. A nebulised mist and/or salbutamol can be The other susceptible group is pregnant women undergoing
helpful in some patients. In addition, administration of unsterile methods of delivery. Along with them, the
appropriate antibiotics early in the course of disease can newborns are another major susceptible population. Neonatal
Infectious Diseases 537
Pathogenesis
After entering through a portal, the tetanus spores germinate
and the vegetative bacterial cell dies releasing the exotoxin.
Tetanospasmin binds the neuromuscular junction and then
enters the major nerves and travels to the spinal cord. There Fig. 26.2: Marked opisthotonus seen in tetanus neonatorum
it blocks the inhibitor pathways of muscular contraction
leading to sustained spasm of muscles. The autonomic Complications
nervous system is also affected. C. tetani by itself causes Respiratory complications occur due to heavy sedation and
little local inflammatory reaction. laryngeal spasms. Cardiac arrhythmias, hypotension are seen
in some patients.
Clinical Features
Severe spasms can cause rhabdomyolysis, myoglobinuria
The incubation period of tetanus varies from 330 days. The and fractures.
presentation is most often generalized but sometimes can be
localized also. The usual early symptoms maybe irritability Differential Diagnosis
or headache, which is soon accompanied by the classical Abscess in pharyngeal areas can sometimes produce
presentation of trismus or lockjaw in 50% of cases. These trismus.
are followed by stiffness of whole body, difficulty in chewing Acute encephalitis
and swallowing and then muscle spasms. The typical Risus Rabies
sardonicus occurs because of spasm of masseter muscles of Strychnine poisoning
face. The stiffness and spasms lead to neck retraction and an
extreme opisthotonus position i.e. arching of the back. There Diagnosis
can be involvement of laryngeal and respiratory muscles also.
With all this, the patient is generally conscious and hence has The diagnosis is based on classical clinical picture. Attempts
extreme pain. The spasms can be caused by minor stimuli to isolate C. tetani are not successful and not required.
such as noise, light, touch and even occur spontaneously. The routine laboratory investigations are more helpful for
The autonomic involvement can cause tachyarrhythmias, assessing secondary bacterial infections.
hypertension, urinary and bowel involvement. There is
accompanying fever of variable level. Treatment
Following are the objectives of treatment of tetanus
Neonatal Tetanus (Tetanus neonatorum) Neutralization of toxin
Tetanus in neonates is an important cause of neonatal Control of spasms
mortality. As stated earlier, unimmunised mothers undergoing Eradication of C. tetani
unclean delivery is the cause, the portal of entry being the Intensive supportive care
umbilicus. The first symptom is sudden inability to suck. The Prevention of recurrence.
infant rapidly develops stiffness of the body, followed by
generalised spasms. Persistent Risus sardonicus is common. Neutralization of Toxin
Spasms of the larynx occur early in the course of neonatal The toxin bound to neural tissue cannot be neutralized.
disease and the infant is unable to swallow. Aspiration Hence the first priority is to administer antitoxin to render
pneumonia and gastroenteritis are common complications. the free available toxin ineffective. For this purpose, animal
The differential diagnosis includes intracranial injury derived antitoxin Anti-tetanus serum (ATS) as well as
secondary to birth trauma, meningitis, hypocalcaemic tetany, human derived tetanus immune globulin (TIG), both, are
sepsis and seizures of any other aetiology (Fig. 26.2). available. ATS is given in the dose of 50,0001,00,000 units
538 Hutchison's Paediatrics
after sensitivity testing. It can be given by intravenous or 1. Infantile botulism due to intake of contaminated honey or
intramuscular route, generally half IV and half IM. It has similar items.
to be given as a one time dose as repeat doses can cause 2. Food borne botulism seen in older age groups or adults
severe immunological reactions. There is a significant risk due to ingestion of food contaminated with C. botulinum.
of serum sickness with ATS. The dose for TIG ranges from This contamination can occur in canned as well as non-
30006000 units, intramuscular. canned foods.
3. Botulism due to wound infection is less common.
Control of Spasms Botulinum toxin is the most poisonous substance
Spasms and the generalized hypertonia need muscle relaxants known. It causes neuromuscular blockade leading to motor
and sedatives. Diazepam is used in the dose of 0.10.2 mg/kg paralysis of all muscles of body. The diagnosis is mainly
IV either as intermittent doses 24 hourly or as a continuous clinical. Treatment consists of intensive supportive care
infusion in severe cases. Prolonged administration is required and administration of human derived botulinum antitoxin
for up to 6 weeks for muscle relaxation. Other agents used especially in infants. No antibiotics are required for
may include chlorpromazine, benzodiazepines, Baclofen and C. botulinum as the organism undergoes lysis and releases
magnesium sulphate. Sometimes IV phenobarbitone may also the toxin.
be helpful. In intensive care settings use of neuromuscular
blocking agents like vecuronium and pancuronium along Clostridium Difficile
with mechanical ventilation can give better survival rates. C. difficile has been associated with pseudomembranous
colitis or antibiotic associated diarrhoea. It produces two
Eradication of C.Tetani types of toxins, which are responsible for death of intestinal
To eradicate C. tetani, inj. Crystalline penicillin 1 lac units cells, inflammatory response and the formation of a
(=100,000 units)/kg per day IV in 4 divided doses for pseudomembrane. The clinical presentation can range from
1014 days is the antibiotic of choice. Alternative for penicillin mild diarrhoea to an explosive onset of watery diarrhoea
hypersensitive patient are Erythromycin, Tetracycline or with blood, fever and abdominal pain. Treatment includes
Metronidazole. stopping the offending antibiotics, if possible and to restore
normal gut flora. The accompanying fluids and electrolytes
Intensive Supportive Care disturbances need correction. The specific treatment
is given for severe cases with oral Metronidazole or IV
Supportive care is an essential part of looking after tetanus Vancomycin.
patients. A quiet, dimly lit room with minimal handling is
important. All care taking activities and medications should ENTERIC FEVER (TYPHOID FEVER)
be timed to cause as little stimulation as possible. Equipment
for emergency ventilatory support must be readily available. Enteric fever or typhoid fever is caused by Salmonella group
of organisms. Salmonella are gram-negative bacilli with
Prevention of Recurrence flagellar motility. There are 2463 serovars of salmonella,
which are broadly classified, as Typhoidal or Non-typhoidal.
Tetanus does not confer any immunity after recovery and all
patients must be fully immunized after recovery irrespective Aetiology
of the age group.
The Typhoidal salmonellae are comprised of S. typhi,
Key Learning Points S. paratyphi A, B and C. The classical Typhoid fever is
Exotoxin produced by tetanus bacilli, tetanospasmin is caused by S. typhi while the paratyphi causes a less severe
responsible for the clinical features febrile illness.
A tetanus patient usually remains conscious even with severe
spasms and opisthotonus.
Epidemiology
Typhoid fever occurs worldwide but incidence differs
according to the sanitation and hygiene levels. In developing
Other Clostridial Infections countries where insanitary conditions are prevalent, it
continues to be a significant infectious disease and a public
Clostridium Botulinum
health problem. Man is the only reservoir. Infection occurs
C. botulinum causes Botulism of which three presentations through oro-fecal route due to ingestion of contaminated
are known: water and food. As asymptomatic persons can continue to
Infectious Diseases 539
excrete the bacilli for months to years, food handlers can shock, tachycardia and drop in temperature. Perforation
be an important source of infection. Contaminated water may be indicated by increase in abdominal pain, distension
cultivation of oysters and shellfish can also cause infections. and features of peritonitis. A surgical intervention may be
Salmonella can cross the placental barrier in a pregnant required. For both conditions intensive supportive care is
mother to infect the fetus. required. Repeated blood transfusions may be required for a
bleeding typhoid ulcer.
Pathogenesis S. typhi can invade any organ of the body to cause
During a variable incubation period ranging from 330 days, inflammation ranging from meningitis, endocarditis,
the organisms invade the intestines through Peyers patches myocarditis to osteomyelitis and arthritis. Certain late
and then travel via lymphatics to mesenteric nodes to reach neurological complications like acute cerebellar ataxia,
blood stream through thoracic duct. This leads to primary chorea, and peripheral neuritis have also been reported.
bacteraemia followed by proliferation of the bacilli in the
reticulo-endothelial organs. From there the organisms re- Diagnosis
enter the blood stream causing secondary bacteraemia and Blood culture for S. typhi is the confirmatory test. It becomes
the clinical illness. The proliferation in Peyers patches positive in the first week itself. Bone marrow aspirate culture
causes sloughing, necrosis and ulceration of the intestinal has a higher sensitivity of 8590%. Polymerase chain
mucosa. These typhoid ulcers can become deep and lead reaction has also been used to detect typhoid and has a good
to haemorrhage or perforation. During the second phase specificity and sensitivity. Cultures of urine and stool can
of bacteraemia, gallbladder is seeded and can become a be positive for salmonella but are not considered useful in
reservoir of bacilli in carriers from where the organism is diagnosis.
excreted through bile into the intestines and faeces. The Widal test, a serological test, used to measure antibodies
organism has a somatic antigen (O), flagellar antigen (H) against O and H antigens is commonly used for aiding in
and a capsular antigen (Vi). The Vi antigen interferes with diagnosis. It has a fairly high rate of false positive and
phagocytosis. It also produces an antitoxin, which causes the negative. In addition, the baseline antibody levels of different
toxic symptoms of typhoid. communities may differ according to the endemicity of the
disease in the region. The immunization may also affect the
Clinical Features antibody levels. A careful interpretation of Widal results is
Typhoid fever occurs at all ages including neonates. The required keeping in mind the clinical picture of the patient
clinical presentation may vary a little with age but fever and the above factors.
is a universal symptom. Initially it may be low grade but Haematological investigations can show anaemia due to
increases in few days to become high grade and persistent. infection/blood loss as well as poor intake. Leucopenia is the
The fever is soon accompanied by abdominal symptoms like usual finding in typhoid but in younger children leucocytosis
diarrhoea, abdominal pain, vomiting and loss of appetite. is more common.
There may also be cough and myalgia. The child by the
second week appears sick and toxic with a coated tongue, Treatment
hepatomegaly and a tender abdomen. Soft splenomegaly Treatment of typhoid fever has been evolving.
may also be present. The rashes of typhoid, rose spots, are Chloramphenicol was and still is the drug of choice in most
frequently transient and faint and hence not easily visualized. places. It is given as 50 mg/kg per day in four divided
Some respiratory signs like rales may also appear. A tender doses for 2 weeks. In many developing countries, S. typhi
mass palpable in right hypochondrium suggests a calculus has become resistant to chloramphenicol and other drugs
cholecystitis. Sometimes liver involvement can lead to used like ampicillin, sulphamethoxazole-trimethoprim.
a clinically manifest hepatitis with jaundice and tender Third generation cephalosporins like ceftriaxone are
hepatomegaly. In severe cases an encephalopathy like recommended in such situations with or without combination
pictureComa vigil can occur. The patient lies in bed with of aminoglycoside. Quinolones like ciprofloxacin, ofloxacin
open eyes but oblivious of surroundings. have also been found to be effective but need to be used with
caution in young children.
Complications Supportive therapy includes providing adequate fluids
Complications are less frequent in children than adults. Two and nutrition either orally or parenterally. If child can take
dreaded intestinal complications, which usually occur in 2nd orally, a soft low residue diet is advised initially. During
or 3rd week of illness, are haemorrhage and perforation. hospitalisation hygiene measures must be instituted to prevent
In both situations patients can suddenly collapse with cross infection.
540 Hutchison's Paediatrics
Typhoid immunisation is advised for children travelling through the acid barrier of stomach. Once they survive that,
to areas where sanitation standards may be poor, although it they colonize the upper small intestines. For colonization,
is not a substitute for scrupulous personal hygiene. a relatively large inoculum of V. cholerae is required. The
organisms produce an enterotoxin, cholera toxin, which
Key Learning Points causes the symptoms. The toxin enters the intestinal epithelial
Fever with abdominal symptoms and signs are a common cells, binds and activates the enzyme adenyl cyclase. As a
presentation of typhoid fever result, cyclic AMP levels increase. This leads to decreased
The gold standard, confirmatory test for typhoid is blood absorption of sodium and chloride from villous cells and
culture. also an active secretion of chloride. As sodium absorption
is impaired, water is poured out from intestinal epithelium.
Non-typhoidal Salmonellosis The outpouring of fluid and electrolytes produces the watery
diarrhoea and the related changes.
Non-typhoidal salmonellosis is caused by a number of
organisms similar to S. typhi but have different serotypes (e.g. Clinical Features
S. dublin, S. typhimurium, S. cholera-suis, S. marina). Unlike
Cholera infection can be a mild self-limiting disorder or
S. typhi, animals are important source of human infection for
even asymptomatic. Severe infection leads to profuse watery
non-typhoidal salmonellae. Poultry and related products are
diarrhoea accompanied by vomiting. In young children there
responsible for a number of outbreaks. The infection has a
can be significant fever. The stools are watery with a fishy
short incubation period of 672 hours. The common clinical
odour and the mucus flakes give it the typical rice water
presentation is of acute enterocolitis. In neonates, young
appearance. The fluid and electrolyte loss can be massive
infants, malnutrition and other immuno-compromised states
leading to symptoms and signs of severe dehydration and
they can cause a more invasive disease leading to septicaemia
even circulatory collapse and acute renal failure. The
like picture and meningitis. Seeding of bones can lead to
outpouring of watery diarrhoea can continue for 57 days.
osteomyelitis especially in children with sickle cell anaemia.
The diagnosis is by culturing the organism from stool or other
Diagnosis
areas of involvement. Treatment is same as for typhoid fever.
Examination of fresh stool sample as a hanging drop
CHOLERA preparation under the microscope can show the darting motile
V. cholerae. There are generally no fecal leucocytes. Stool
Cholera, caused by Vibrio cholerae, is an acute gastrointestinal
culture confirms the diagnosis as well as helps in identifying
infection. It is a major public health problem especially in
the type. V. cholerae is best cultured on thiosulphate citrate
developing countries.
bile sucrose media (TCBS).
Aetiology The estimation of serum electrolytes and blood sugar
levels is useful for appropriate management of sick children.
V. cholerae is a gram-negative, motile, comma shaped
organism with a flagellum. Two pathogenic strains Treatment
V. cholerae 01 and 0139 are known. The 01 strain has two
The mainstay of treatment is replacement of fluid and
bio groups i.e. Classic and El Tor and there are further
electrolytes losses. If the child can take orally then oral
serogroups of O antigens viz. Ogawa, Inaba and Hikojima.
rehydration solution (ORS) should be given ad libitum. In
Epidemiology case oral intake is not possible or inadequate, intravenous
rehydration is essential. Hyponatraemia, hypokalaemia and
Cholera has been known to occur for centuries in various acidosis need appropriate attention.
parts of the world. It has not only an endemic or sporadic Antibiotics can help in shortening the duration of illness
presence but has caused epidemics as well as pandemics. The and possibly the carrier rate. The drug of choice is oral
route of infection is feco-oral. Contaminated water serves as tetracycline for 3 days. In younger children, trimethoprim-
a reservoir and frequently the source of the infection. Other sulphamethoxazole combination can be used. Furazolidone
sources of infection include contaminated foodstuffs, utensils has also been used.
and houseflies. There are no animal reservoirs of infection.
Complications
Pathogenesis
All the complications and even the mortality are related to the
Cholera has one of the shortest incubation periods of 6 fluid and electrolyte losses. Hence prompt and appropriate
hours to 5 days. After ingestion, the organisms have to pass treatment can prevent the complications.
Infectious Diseases 541
Aetiology
Streptococci are gram-positive cocci seen in chains. They are
categorized into three categories depending on their ability to
cause haemolysis viz. beta ()-haemolytic causing complete
haemolysis, alpha (a) cause partial haemolysis while gamma
(g) cause no haemolysis. The -haemolytic streptococci are
further divided based upon polysaccharide components in
their cell wall. These groups known as Lancefield grouping
range from A to T.
Epidemiology
Group A streptococci cause highly contagious disease and all
persons not having immunity to it are susceptible. Humans
are the source of infection and transmission occurs by droplet
infection from respiratory passages. Overcrowding, close
contact favour the spread of infection. Skin infections occur
only after a break in the normal barrier, as streptococci do
not penetrate intact skin. Fig. 26.3: Impetigo lesions
detection test with high specificity but medium sensitivity are infection. Serious systemic involvement can also occur as
available and are useful for a quick diagnosis although they meningitis, osteomyelitis, arthritis or endocarditis.
are expensive. Evidence of a recent streptococcal A infection
can be seen from ASO titres especially increasing titres. Diagnosis
ASO titres of 320 Todd unit are significant in children while Culturing pneumococci from the site of infection, viz. throat,
for anti-DNASe the value is 240 Todd unit or greater. The blood or CSF establishes the diagnosis.
values in adults are 240 and 120 Todd units respectively.
Treatment
Treatment
Penicillin is the drug of choice either parenterally or orally
The antibiotic of choice for Streptococcus A is penicillin. depending upon the severity of the disease. Penicillin
Resistance to penicillin is infrequent. It can be given orally resistant pneumococci are becoming common and culture
or parenterally but must be continued for complete 10 sensitivity is helpful in making a choice of antibiotic easier.
days to eradicate streptococci. In hypersensitive patients, Macrolides, trimethoprim-sulphamethoxazole, clindamycin,
erythromycin can be given for 10 days. and amoxicillin-clavulanic acid are other alternatives, which
For skin infections, topical antibiotics can be used. can be used for oral therapy.
Mupirocin is effective but if a child has wide spread infection
or systemic features, oral treatment maybe indicated. MENINGOCOCCAL DISEASE
PNEUMOCOCCAL INFECTIONS Meningococcal meningitis was described over two centuries
back but it still remains a feared public health problem.
Pneumococcus or Streptococcus pneumoniae is a frequent
inhabitant of upper respiratory tract. It is a common cause of Aetiology
meningitis and acute respiratory infection. It is gram-positive
capsulated diplococci and based on capsular polysaccharide, The causative organism Neisseria meningitidis is gram-
ninety serotypes have been identified. negative kidney shaped diplococci. Humans are the only
source of infection. Many individuals carry the organism
Epidemiology in their nasopharynx. The polysaccharide capsule of the
organism has antigen variation and based on that 13 serotypes
More than 90% of children below 5 years of age have
have been identified. The well-known serotypes are A, B, C,
pneumococci in their respiratory tract sometime or other.
W 135 and Y.
The route of infection is by droplet infection. Children with
asplenia, sickle cell disease and immunocompromised states Epidemiology
are more susceptible to pneumococcal infections.
Meningococcal infections are endemic in many parts of the
Pathogenesis world and are marked by periodic outbreaks in geographical
areas. Overcrowding, low socioeconomic status, and viral
Normal defence mechanisms of the respiratory passages, e.g.
infections are risk factors for the infection. The route of
ciliary movements, epiglottic reflex, etc. inhibit infection of
lower passages with organisms like pneumococci, which infection is through respiratory droplet infection. Serotypes
colonize the upper passages. Any conditions altering these A, B and C are variably responsible for endemic disease as
mechanisms like a preceding viral infection or allergy well as outbreaks.
can predispose to pneumococcal disease. The commonly
Pathogenesis
involved sites are lungs, ears, CNS. The spread of infection
is facilitated by the anti-phagocytic properties of the capsular The meningococci first attach themselves to non-ciliated
polysaccharide of bacteria. epithelial cells and gain entry to the blood stream. They
are protected by their polysaccharide capsule, which
Clinical Features resists phagocytosis. After invasion, there is an acute
Clinical presentation depends on the site of involvement. inflammatory response, diffuse vasculitis, disseminated
Upper respiratory tract infection may present predominantly intravascular coagulation (DIC) leading to focal necrosis
as an otitis media, tonsillopharyngitis or sinusitis. Lower and haemorrhage. Any of the organs can be affected. In
respiratory tract involvement may be seen as pneumonia. An meningococcemia, myocarditis occurs in more than half
invasive infection can cause bacteraemia and septicaemia. the fatal cases. Waterhouse-Friderichsen syndrome due to
Pneumococcal peritonitis occurs rarely as a spontaneous adrenal haemorrhage can be another fatal complication.
544 Hutchison's Paediatrics
HAEMOPHILUS INFLUENZAE
Aetiology
Haemophilus influenzae is a gram-negative, pleomorphic
coccobacillus. Serotype B is the most common and most
virulent strain.
Epidemiology
H. influenzae is seen in the respiratory flora of normal
healthy persons. Humans are the only reservoirs. The mode
of transmission is from droplet infection.
Clinical Features
Fig. 26.4: Extensive purpuric lesions in a child with overwhelming
meningococcaemia H. influenzae can cause a wide range of illness primarily
affecting the respiratory system and meningitis (see Table
Clinical Features 26.3).
Meningococci can cause clinical disease in the form of Meningitis: The clinical presentation is like any other
meningitis, septicaemia or meningococcemia. meningitis. It is often associated with post-meningitic sequelae
Acute meningococcaemia is a fulminant disease. The in the form of sensorineural hearing loss, developmental
initial presentation is similar to a viral illness with fever, retardation, seizures, ataxia and hydrocephalus.
headache, myalgia and pharyngitis. An erythematous
generalized maculopapular rash may also be seen. The Diagnosis
disease can rapidly progress to hypotension, DIC, septic H. influenzae is a fastidious organism to culture and requires
shock, adrenal haemorrhage, myocarditis or renal failure. care. The specimens must be promptly transported without
Multiple petechiae, purpuric spots and purpura fulminans
drying or at extreme temperatures. Positive culture or smear
may be seen. Meningitis is not a necessary feature (Fig.
from the affected site confirms the diagnosis.
26.4).
Meningococcal meningitis can occur with or without
Treatment
meningococcemia. All the features of meningitis are seen.
Occasionally only cerebral involvement is present. Rarely In a suspected H. influenzae B infection, ampicillin or
meningococci can cause pneumonia, osteomyeltis, cellulitis, chloramphenicol are recommended. Third generation
otitis media and empyema. cephalosporins like cefotaxime or ceftriaxone are also useful.
The treatment should be initially given parenterally and
Diagnosis after adequate response oral therapy can be considered. In
Culturing meningococci from CSF or blood is diagnostic. meningitis, parenteral therapy for 1014 days must be given.
Rapid diagnostic tests like latex agglutination are helpful Addition of dexamethasone in initial stages of meningitis
especially in seriously ill patients. especially just before antibiotic therapy decreases the
incidence of hearing loss.
Treatment
Table 26.3: Clinical disease caused by H. influenzae Type B
Parenteral penicillin is the drug of choice. Third generation
cephalosporins can also be used. Chloramphenicol is also Respiratory Miscellaneous
effective. In sick patients intensive supportive care with
Epiglottitis Cellulitis
vasopressors, etc. is required. Hydrocortisone supplementation Sinusitis Arthritis
may be helpful in patients with shock. The patient should be Otitis media Pericarditis
kept isolated for at least 24 hours after starting of treatment. Pneumonia Septicaemia
Household and other close contacts of the patient need
Eye Neonatal infection
prophylactic therapy. Rifampicin 10 mg/kg 12 hourly
Conjunctivitis
for four doses is recommended. Other antibiotic used for
Orbital cellulitis
chemoprophylaxis is Ciprofloxacin.
Infectious Diseases 545
Unvaccinated children below 5 years of age in contact with Skin Respiratory system Musculoskeletal
a case need chemoprophylaxis with Rifampicin in a dose of system
20 mg/kg for 4 days. Impetigo Lobar pneumonia Pyomyositis
Ecthyma Bronchopneumonia Osteomyelitis
STAPHYLOCOCCAL INFECTIONS Folliculitis Empyema Arthritis
Furuncle Pyopneumothorax
Staphylococci are gram-positive cocci and are present as Carbuncle Necrotizing pneumonia
normal flora in a ubiquitous manner in humans, animals Scalded skin Bronchopleural fistula
and on fomites. They are resistant and hardy bacteria. They syndrome
are broadly classified as Staphylococcus aureus, coagulase CNS Heart Kidney
positive or coagulase negative Staphylococci (CONS). Meningitis Infective endocarditis Renal abscess
Brain abscess Purulent pericarditis Perinephric abscess
Staphylococcus Aureus Gastrointestinal Septicaemia Toxic shock syndrome
S. aureus is a common infective organism. It causes a variety Enterocolitis
of infections of many organs or a generalized sepsis. The Food poisoning
organisms produce various toxins and enzymes, which are
largely responsible for the pathogenesis. Different strains Treatment
produce one or more of these virulence factors, which Parenteral antibiotics are used to treat all serious infections.
may have a combination of the following mechanisms of Only for minor skin infections, oral therapy can be given.
action. Treatment should be with a penicillinase resistant antibiotic
Protection of the organism from host defence mechanisms and in combination with at least one more antibiotic. Serious
e.g. Leukocidin, Protein A staphylococcal infections may require more than two
Local tissue destruction e.g. Hemolysins, exfoliations antibiotics. Prolonged therapy is usually required especially
Toxins affecting non-infected sites. e.g. Enterotoxins for osteomyelitis and endocarditis, which can be given orally
Localized infection e.g. coagulase. after the features of infection have disappeared. In addition
to antibiotics, any localized collection of pus, if present,
Epidemiology must be drained.
Within a week after birth, the newborn infant is colonized MRSA (methicillin resistant Staphylococcus
with S. aureus. Nearly one third of normal individuals carry aureus)
a strain of S. aureus in their anterior nares from where it can
be transmitted to skin. Autoinfection can commonly cause Staphylococcus aureus strains resistant to methicillin and to
minor infections. Persons harbouring S. aureus in nose flucloxacillin have emerged; some of these organisms may
can be a frequent source of infection to others especially be sensitive to vancomycin or teicoplanin. Treatment is
nosocomial infections. Defects in mucocutaneous barrier guided by the sensitivity of the infecting strain. It is essential
like trauma and surgery increase the risk. Defects in immune that hospitals have infection control guidelines to minimise
system like defective chemotaxis or phagocytosis or humoral MRSA transmission, including policies on isolation and
immunity predispose to infection. treatment of MRSA carriers, and on hand hygiene.
TUBERCULOSIS Pathogenesis
After infection through the respiratory route, the TB bacilli
Tuberculosis, an ancient disease, occurs in all parts of the
start multiplying in the lung alveoli. Most are killed but some
world with variable frequency. It has been given many names
bacilli survive which are intracellular in the macrophages.
and has a very diverse spectrum of clinical presentation.
The macrophages carry them along the lymphatics to the
Aetiology lymph nodes, usually the hilar nodes or in case of upper
lobe the paratracheal nodes. The organisms multiply and
The causative organism, Mycobacterium tuberculosis lymphatic reaction increases over the next 12 weeks. There
belongs to family mycobacteriaceae. The tubercle bacilli is also development of tissue hypersensitivity. The whole
are pleomorphic, weakly gram-positive, non-motile, complex of parenchymal lesion along with the involved
non-sporing organisms. The characteristic feature of all lymphatics and the draining lymph nodes are known as the
mycobacteria is their resistance to acid decolouration after primary complex. The infection at this stage can become
staining, a property attributed to the mycolic acid in their dormant with healing of the primary complex by fibrosis
cell wall. Most mycobacteria are slow growing organisms. or calcification. The tuberculin skin test is positive at this
Their generation time is 1224 hours and cultures require at stage. Or there can be progression of the disease, the risk
least 36 weeks. being greatest in children within 2 years of infection. The
Epidemiology risk gradually decreases till adulthood.
WHO has recently recommended directly observed Category III: Patients who are sputum-negative, or who
therapy (DOTS) for treating all types of tuberculosis. have extra-pulmonary TB and are not seriously ill. Phase
I consists of isoniazid, rifampicin, and pyrazinamide given
DIRECTLY OBSERVED TREATMENT SHORT under direct observation thrice weekly on alternate days and
COURSE (DOTS) lasts for 2 months (24 doses). This is immediately followed
by the continuation phase, which consists of 4 months (18
This is a strategy to ensure cure by providing the most
weeks, 54 doses) of isoniazid and rifampicin given thrice
effective medicines and confirming its intake regularly.
weekly on alternate days, the first dose of the week being
Worldwide it has been documented as an effective strategy
to cure TB. directly observed.
In DOTS, the treatment is given in two phases. During A symptomatic child contact with a positive Mantoux test
the intensive phase of treatment, a health worker or other (10 mm or more) is to be treated as a case regardless of BCG
trained person watches as the patient swallows the drugs status. For infants, if the mother or any other household
in his presence. During the continuation phase the patient member is smear positive then chemo-prophylaxis should be
is issued medicines for one week in a multi-blister combi- given for 3 months. At the end of 3 months, a Mantoux test
pack of which the first dose is swallowed by the patient in is done. If the Mantoux test is negative, chemoprophylaxis
the presence of the health worker or other trained person. is stopped and BCG vaccine is given. If the Mantoux test is
The consumption of medicines in the continuation phase is positive, chemoprophylaxis is given for a total duration of 6
also checked by return of the empty multi-blister combi- months.
pack when the patient comes to collect medicine for the next
week. Sputum microscopy is done at defined intervals during LEPROSY
treatment to monitor the patients progress toward cure. The Leprosy also known as Hansens disease is an ancient
key to the success of the DOTS strategy is that it places the disease. It is a chronic infection of skin, peripheral nerves
responsibility for curing TB patients on the health workers and respiratory system.
not the patients. This strategy has proven successful
throughout the world. Aetiology
The components of the DOTS strategy are: The causative organism is Mycobacterium leprae, an
Diagnosis of patients by sputum microscopy intracellular acid-fast bacillus from mycobacteriaceae
Regular and uninterrupted supply of drugs family, closely related to Mycobacterium tuberculosis.
Short-course chemotherapy given under direct observation Illness usually results from prolonged exposure to infected
Systematic evaluation and monitoring. persons. The bacterium only affects humans under natural
Category I: New cases that are sputum positive or conditions. Transmission of the disease to experimental
seriously ill patients with smear negative or extrapulmonary animals is difficult. This fact hampers research into many
disease. The intensive phase consists of isoniazid, rifampicin, aspects of the disease.
pyrazinamide and ethambutol given under direct observation
thrice weekly on alternate days and lasts for 2 months (24 Epidemiology
doses). This is immediately followed by the continuation World over there has been a steady decline in the prevalence
phase, which consists of 4 months (18 weeks, 54 doses) of of leprosy. Presently, more than 90% of cases of leprosy
isoniazid, rifampicin given thrice weekly on alternate days. are in 10 countries of the world, located in Africa, SE
The first weekly dose is directly observed. Asia, Central and South America, with 70% in India alone.
Category II: Retreatment cases including patients with Transmission occurs from person to person among those in
relapse, failure and those who return to treatment after close contact especially the family members. The infection
default. Such patients are generally sputum negative. Phase is transmitted through breast milk but nasal and respiratory
one consists of two months (24 doses) of isoniazid, rifampicin, secretions are the ones with highest bacterial load and are
pyrazinamide, and ethambutol, all given under direct the usual source. Infection rarely occurs in infants but is
observation weekly on alternate days. This is immediately common in the 514 years age group. In-utero transmission
followed by the continuation phase, which consists of 5 has been considered a possibility. The incubation period
months (22 weeks, 66 doses) of isoniazid, rifampicin, and is between two and five years, but may be much longer.
ethambutol given thrice weekly on alternate days, the first Infection spreads only by the lepromatous type of the
dose of the week being directly observed. disease.
550 Hutchison's Paediatrics
Pathogenesis
Most of the persons coming in close contact with M. leprae
develop immunity without an evident disease. M. leprae
and host immunity are two major determinants of the extent
and severity of the disease in an individual. After entering
through the respiratory mucosa especially nose, the bacilli
spread hematogenously to skin and peripheral nerves. The
organisms colonize the perineural and endoneural spaces and
the Schwann cells. In hosts with good cell mediated immune
response the presentation is in form of tuberculoid leprosy
(TL). The tissues show granuloma formation with epithelioid
cells, lymphocytes and scanty bacilli. There is no caseation
or intracellular bacilli in macrophages. The cutaneous nerve
fibres are destroyed with extensive cellular infiltration of the
dermis.
On the other extreme in the presentation of Lepromatous
leprosy (LL) where there is almost no immune response to M.
leprae. A large number of bacilli invade the skin, peripheral Fig. 26.7: Hypopigmented patch in tuberculoid leprosy
nerves, nasal mucosa as well as other organs with the
exception of CNS, which is not involved. There are poorly Lepromatous Leprosy: The initial skin lesions are
formed granulomas with foamy histiocytes and macrophages a macule or diffuse skin infiltration. Later they progress,
with numerous intracellular bacilli. In between the two become papular and nodular, and innumerable and confluent.
extremes of the spectrum of presentation of Leprosy lie three The characteristic facial features Leonine facies, loss of
other forms of borderline (BB), borderline tuberculoid (BT) eyebrows and distorted earlobes develop. There may be
and borderline lepromatous (BL) pictures with in between accompanying anaesthesia and later peripheral sensory
features. neuropathy which may go on to deformities such as claw
hand, dropped foot, inversion of the feet and claw toes.
Clinical Features Trophic ulcerations follow with loss of peripheral tissues,
Tuberculoid Leprosy (TL): The usual presentation is with a such as the nose or digits.
large skin lesion (>10 cm). The lesion has a well-demarcated Reactional states: Changes in the immunological balance
erythematous rim with atrophic, hypopigmented, anaesthetic between host and bacteria especially on treatment can cause
area. There can be more than one lesion sometimes. The following acute clinical reactions:
peripheral nerve closest to the area involved is usually Type I (reversal) reactions: Acute pain and swelling
thickened. The lesion can continue to enlarge and there is of existing skin and neural lesions occurs. The acute
irreversible loss of skin appendages, i.e hair follicle, sweat neuritis can cause irreversible nerve injuries, e.g. facial
glands as well as cutaneous receptors (Fig. 26.7). paralysis, foot drop, and claw hand. The skin lesions
Indeterminate Leprosy: This is the earliest clinically ulcerate and can leave severe scars. This results from a
detectable stage from which most patients will pass. There sudden increase in cell-mediated immunity and is seen
is a skin lesion, which is a single hypopigmented macule predominantly in BL. Type I reactions are a medical
of 24 cms size with minimal anaesthesia. A high index of emergency requiring immediate treatment.
suspicion in close contacts of leprosy patients is required to Type II reactions (Erythema Nodosum Leprosum (ENL)):
diagnose this stage. In majority, this lesion may heal without This reaction is seen in lepromatous leprosy or BL. The
any treatment while in some it progresses to other forms of skin nodules become red and tender resembling erythema
the disease. nodosum. There is accompanying fever, polyarthralgia,
Borderline Leprosy (BL): Features, which do not clearly tender lymphadenopathy and splenomegaly. This is
belong to either TL or LL and are ill-defined, are taken as caused by a systemic inflammatory response to the
borderline leprosy. There can be three further subdivisions immune complexes.
borderline tuberculoid (BT), borderline (BB), or borderline
lepromatous (BL). There can be shift from one category to Diagnosis
the other depending upon host and bacterial factors, which Anaesthetic skin lesions are pathognomonic of leprosy. A
change the clinical picture. skin biopsy from an active lesion provides confirmation.
Infectious Diseases 551
Table 26.8: Daily paediatric doses for leprosy Table 26.9: Late signs of congenital syphilis
history of syphilis or positive VDRL, treatment is indicated from abnormal urinalysis, azotaemia to acute renal failure.
if: Hemorrhagic manifestations and circulatory collapse are
Untreated or inadequately treated mother uncommon manifestations.
A non-treponemal serology titer of 4 fold or greater than
maternal levels in the infant. Diagnosis
The drug of choice is inj. Crystalline penicillin 1 lac During first week, leptospira can be cultured but requires
(=100,000 units)/kg per day IV in 12 hourly doses for 7 prolonged period for same. Dark field microscopy of blood
days and then 8 hourly doses for 7 days. (1st week) and fresh urine (2nd week) may show leptospira.
Serological tests (a) Microscopic agglutination test is the
LEPTOSPIROSIS specific test but difficult to do as involves live cultures of
Leptospira are aerobic spirochetes occurring worldwide. It is leptospira. (b) ELISA test tests IgM antibodies and is
the most widespread zoonotic disease. There are more than positive early in disease. (c) Slide agglutination test.
200 pathogenic sero-varieties of Leptospira with clinically
overlapping presentations. Treatment
Penicillin is the drug of choice especially if given early. Inj.
Epidemiology crystalline penicillin IV 68 million units/m2 per day is given
Most of the cases occur in tropical and subtropical areas. in 4 divided doses for 1 week. For hypersensitive patients the
Leptospira infects many species of animals but rat has been alternative is tetracycline.
the principle source of infection for man. Pets especially dogs
can also infect if good hygiene is not maintained. Leptospira MEASLES
cause disease in animals as well. The animals excrete the Measles, also known as Rubeola, occurs worldwide and is an
bacteria in urine and contaminate surface water and soil from important cause of childhood morbidity and mortality.
which infection travels to humans.
Aetiology
Pathogenesis
Measles is caused by an RNA virus belonging to
The portal of entry for leptospira is usually a break in skin
Paramyxoviridae family, genus morbillivirus. There is only
like abrasions or mucous membranes. The leptospira after
one serotype known.
entry into the blood stream, spread to various organs and get
lodged in liver, kidneys or CNS for a long time. The primary Epidemiology
pathology seen is damage to the endothelial lining of small
blood vessels. Measles has been identified to occur in history for a long
time. Epidemics have occurred in various parts of the
Clinical Features world. With the widespread use of measles vaccine, the
Leptospiral infection can be asymptomatic or a mild illness epidemiology has changed. The unimmunised children of
or a typical biphasic illness with severe organ dysfunction all ages are susceptible. Infants younger than 69 months
and death. The incubation period is 712 days. The initial have protective antibodies transferred from their mothers
phase of blood stream invasion is called septicemic phase transplacentally and hence are protected. As the measles
and lasts 27 days. During this time the child has fever with vaccination coverage is increasing, it has been suggested that
chills, headache, vomiting and myalgia. Lymphadenopathy the transplacental antibodies of vaccine-immunized mothers
and hepatosplenomegaly may also occur. The septicemic may protect the infant for a lesser time.
phase may be followed by a brief asymptomatic period Measles is a highly contagious disease with secondary
and followed the immune phase. The immune phase is attack rate as high as 90% among susceptible close contacts.
characterized by appearance of antibodies to leptospira The infection occurs through droplets and there are no other
while the organism itself disappears from circulation and is hosts or vectors. The period of infectivity is 5 days before
present in the organ systems. This phase can last for several and 4 days after the appearance of rash.
weeks. There is a recrudescence of fever and depending on
Pathogenesis
the extent of the organ involvement; the clinical presentation
can be variable. Neurological involvement is seen as The measles virus enters the body via respiratory epithelium
meningo-encephalitis and neuropathies. Liver involvement causing a viraemia and then lodges in the reticulo-endothelial
is generally a severe disease with jaundice and elevation system. A second phase of viraemia occurs infecting
of enzymes (Weils disease). Renal dysfunction can range various organs. There is an inflammatory reaction in the
Infectious Diseases 553
Diagnosis
No investigations are required to diagnose measles in a
typical case. In doubtful cases, measles IgM antibody can
A B be estimated. Paired sera (acute and convalescent phases)
Figs 26.8A and B: (A) Erythematous maculopapular rash of estimation will be more reliable.
measles (B) Post-measles brownish pigmentation
Differential Diagnosis
mucosa of respiratory tract with exudation and proliferation
of mononuclear cells. An interstitial pneumonitis can See Table 26.10.
resultHecht giant cell pneumonia. The intestinal tract is
Treatment
also involved and there can be hyperplasia of lymphoid
tissue especially in appendix where multinucleated giant The mainstay of treatment is supportive therapy. Maintaining
cells (Warthin-Finkeldey cells) are seen. The skin rash adequate hydration and nutrition are important. Antipyretics
(exanthema) of measles is accompanied by a similar reaction and tepid sponging for high fever and humidification for relief
(enanthem) in the mucosa characteristically seen as Koplik of cough should be given. There are no specific antiviral
spots in buccal mucosa. Enanthems occur in the mucosal drugs for measles.
lining of respiratory and gastrointestinal systems also.
Complications
Clinical Features Respiratory complications: Secondary bacterial infection
Three clinical stages have been described in measles can cause otitis media and other upper respiratory system
including the incubation period, which is of 1012 involvements. Interstitial pneumonitis can occur due to
days duration. This is followed by the 2nd stage or the measles virus itself. Secondary bacterial pneumonia or
prodromal period. During this the child has cough, coryza, viral infections are also common.
conjunctivitis and the pathognomonic Koplik spots. Koplik Myocarditis is an infrequent occurrence.
spots are seen on buccal mucosa opposite lower molar Gastrointestinal complications: Acute diarrhoeal disease
and appear as pale white or greyish tiny dots over reddish is a common complication especially in developing
mucosa. They are seen for 12 days only. The conjunctival countries. Due to decreased immunity, dysentery can
inflammation initially has a characteristic erythematous line also occur.
at the lid margin but later becomes more diffuse. The 3rd Neurological complications: Measles infection has been
stage, the stage of rash is heralded by a sudden rise of associated with various types of encephalomyelitis, as
fever to 40C or even higher and the appearance of rash. listed below
The erythematous, maculopapular rash first appears behind Early encephalitis like picture thought to be due to
ears, along hairline and neck, spreads to face, arms and direct viral invasion of the CNS.
chest within 24 hours (Fig. 26.8A). Rash spreads further to A later post-measles encephalitis due to demyelination,
abdomen, back and lower limbs. As it starts appearing on may be an immunological reaction.
feet, it begins to fade from the face and downwards in the Chronic encephalitis-subacute sclerosing panen
order of appearance. The whole stage takes 34 days. The cephalitis.
fever drops to normal as the rash reaches the lower limbs. In addition, other neurological complications like
Persistence of fever indicates a secondary bacterial infection. Guillain-Barr syndrome, retro-bulbar neuritis can
The measles rash on fading leaves a branny desquamation also occur.
Table 26.10: Differential diagnosis of exanthematous fever
Prodromal Catarrh, Mild Catarrh Mild respiratory None Respiratory None None None
illness conjunctivitis symptoms symptoms
cough, Koplik
spots, fever
Onset of Preceding fever Preceded by After 35 days of Within 1-2 days No definite After about Related to After 12 days of
rash x 3-4 days, onset lymphadeno- high fever and as of fever, around pattern with 1 week of fever the drug defervescence
with high fever, pathy, rash fever resolves, neck fever
rash along hair- begins on face, rash appears on
line, cheeks minimal fever trunk
Spread of Face, neck, Spreads quickly Spreads to neck, Spreads to trunk No typical order No pattern No specific Spreads to whole
rash trunk face and limbs and limbs, face of spread pattern body
and limbs in is spared may spare palms
2-3 days and soles
Type of rash Erythematous Erythematous Discrete, raised, Finely, papular, Erythematous Any type Any type Erythematous
maculopapular maculopapular pink lesions erythematous maculopapular morbillform or
with flushing 25 mm sand paper feel maculopapular
Fading of Fever subsides, Fades in 3 days, Fades in 13 days Fade after 34 No pattern No pattern Depend on with- Fades 1-2 days
rash rash fades in minimal desqu- days with exten- drawal of drug
order of appea- amation sive desquam-
rance leaving ation
branny brownish
discoloration
Associated Respiratory Tender lymph Febrile seizures Respiratory Sepsis, DIC, Bulbar conjun- Itching Body aches,
features symptoms adenopathy are common symptoms, shock petechiae, ctival injection, leucopenia
strawberry purpura lymph-adeno- thrombocy-
tongue pathy swelling of topenia
hands, feet
desquamation
Diagnostic None None None Throat swab Culture positive With drawal of Dengue serology
investigation culture group for meningococci drug relieves
A streptococci the rash
Hutchison's Paediatrics
Infectious Diseases 555
Ocular involvement can cause keratitis and corneal and outwards. The gland is tender with pain in the ear and also
ulceration on salivation. The opening of Stensens duct near the upper
Skin infection can cause gangrene of cheeks known as molars may show redness and oedema. The involvement
Noma. of parotid glands may be unilateral or bilateral. The
Malnutrition submandibular salivary glands are affected less frequently.
Flaring of underlying pulmonary tuberculosis There is swelling and tenderness in the submandibular area
Subacute sclerosing panencephalitis (SSPE): It is also and the Whartons duct opening is inflamed. Sublingual
known as Dawson encephalitis occurs due to persistent salivary glands are still less commonly involved. There
measles virus in CNS. It is a rare disorder occurring can be accompanying low-grade fever. The swelling of the
worldwide. The onset generally occurs at 515 years of age. salivary glands subsides in a weeks time.
A higher risk has been seen for measles infection occurring
at a younger age, for boys and children from rural or poor Differential Diagnosis
socio-economic background. Other viruses causing parotitis e.g. influenza and
The pathological picture shows necrosis and inclusion parainfluenza, coxsackie, CMV, HIV
body panencephalitis picture. It has an insidious onset with Bacterial parotitis
behavior changes or declining school performance. This is Salivary calculus
followed by myoclonic jerks and there may be frank seizures Cervical lymphadenitis.
also. Cerebellar ataxia and other abnormal movements may
also be seen. There is progressive dementia, stupor and Diagnosis
coma. The course is variable ranging from few months to Viral confirmation of a diagnosis of mumps depends on
few years (13 years). isolation of the virus or the demonstration of a significant
Diagnosis is by demonstrating IgG and IgM measles rise in antibody titre during the illness.
antibodies in CSF. The gamma globulins are markedly
elevated in CSF. There are no diagnostic EEG or MRI Treatment
pictures of SSPE. Treatment is symptomatic and supportive.
No specific treatment is indicated and only supportive
Prognosis is poor as there is slow progression of the
treatment is required. Analgesics/antipyretics for pain and
degenerative process.
fever can be given.
MUMPS Complications
Mumps is an acute viral infection of the salivary glands. CNS complications are the most frequent in children.
Aseptic meningitis
Aetiology Mumps encephalitis
Mumps virus, with only one serotype, is an RNA virus from Post infectious demyelination encephalitis
paramyxoviridae family. Aqueduct stenosis and hydrocephalus
Orchitis and Epididymitis: Commonly seen in adolescents
Epidemiology or adults. This may follow salivary gland involvement
Mumps is known to occur worldwide. Unimmunised children by a week or so. There can be bilateral orchitis. The
are at risk. The mode of transmission is airborne droplets symptoms of fever, vomiting and lower abdominal pain
or contaminated fomites. There is no other reservoir of with testicular swelling and pain last for about 4 days. In
infection. The infective period extends from 24 hours before 1/3 cases affected testis may undergo atrophy. Infertility
the appearance of swelling to 3 days after it has subsided. is rare.
Oophoritis in post pubertal females is seen.
Clinical Features Pancreatitis
Myocarditis
A little less than half of the infections by mumps virus Arthritis
are subclinical. The incubation period is 24 weeks. The Sensorineural deafness
prodromal features are minimal. The primary manifestations
of mumps are related to salivary glands. Parotid salivary Key Learning Points
gland is the most commonly involved structure. The glands CNS involvement in mumps can precede parotitis
swell and increase in size to obliterate the angle of jaw Mumps rarely causes sterility in males.
(mandible) and reach the ear, which gets displaced upwards
556 Hutchison's Paediatrics
A 4-year-old partially immunised child was hospitalised with fever General CNS
for 3 days, seizures and altered sensorium for one day. Systemic IUGR Meningoencephalitis
examination was normal except for positive meningeal signs and Skin rashesblueberry muffin Mental retardation
altered sensorium. A diagnosis of acute meningoencephalitis was Microcephaly
made. CSF examination showed pleocytosis of 400 WBCs/cumm Eyes CVS
with 50% lymphocytes and 50% polymorphs and normal sugar Cataracts Myocarditis
and protein levels. Over the next few days in hospital, the child Micro-ophthalmia Patent ductus arteriosus,
pulmonary artery stenosis
developed a tender swelling over the left parotid region indicative
Ears Haematological
of parotitis.
Sensorineural hearing loss Anaemia
Diagnosis: Mumps with meningoencephalitis
Others Thrombocytopenia
Pneumonia
RUBELLA Hepatitis
period of infectivity is 12 days before the rash and till all Treatment
the lesions have crusted. There is usually no asymptomatic
In healthy children with mild disease only supportive
infection although the disease may be very mild in young
treatment is recommended. There is a specific and safe
children. Herpes zoster is caused be reactivation of the virus,
which has become latent after the primary infection. It is antiviral drug, Acyclovir, available. It can be given
uncommon in children and is a milder disease in childhood. safely to children in the dose of 20 mg/kg per dose as
4 doses per day for 5 days. The earlier it is started the
Pathogenesis better is the efficacy in limiting the spread of the disease
and eliminating the virus. If Acyclovir is given 3 days or
The varicella virus enters the respiratory epithelium where
later after the onset of rash, it may not be effective in
it multiplies and causes viraemia. A second viraemic phase
preventing further spread of the disease. Varicella-zoster
occurs during which the cutaneous lesions appear in crops.
The virus enters the sensory ganglia and becomes latent immunoglobulin (VZIG) is recommended for those who
there. The subsequent reactivation of this leads to herpes are at increased risk of severe varicella e.g. neonates and
zoster rash and the neurological features. immunosuppressed patients.
POLIOMYELITIS specific symptoms for the first week before entering the
acute neurological phase. The neurological illness can be of
Poliomyelitis is an acute viral illness caused by poliovirus two types, the furious variety seen in 80% of cases or the
and has a wide spectrum of presentation ranging from a mild paralytic variety in 20%.
disease to acute flaccid paralysis. It is covered in the chapter Furious Rabies: The pathognomonic sign of this is
on Diseases of Nervous System see Chapter 18. hydrophobia. It is presumed to be occurring due to an inspiratory
muscle spasm secondary to destruction of brainstem neurons
RABIES inhibiting the nucleus ambiguous controlling inspiration.
Whenever the patient attempts to swallow liquids, there is
Rabies, a viral infection of warm-blooded animals, has been
possible aspiration into the respiratory passages leading to
known to occur for a very long time and finds mention in
a respiratory muscle spasm. With this reflex spasm even
ancient texts.
the sight of water causes distress to the patient. A similar
Aetiology response is seen to the air currents fanning the patient
Aerophobia that is another pathognomonic sign. Along with
The rabies virus belongs to the Rhabdoviridae family and is these two characteristic signs, there are behavioural changes
an RNA virus. in the form of disorientation, violent behaviour and there
may be seizures. The patient may have brief lucid intervals.
Epidemiology Paralytic Rabies: There is an ascending, symmetrical
Rabies virus is present in the susceptible animals throughout flaccid paralysis.
the world. Although dogs are the most well-known vectors,
there are many other animals, which transmit rabies including Differential Diagnosis
bats, skunks, raccoons, foxes and cats. With the vaccination The classical signs of rabies help in differentiating from
of pets becoming widespread, other animals are becoming encephalitis due to any other cause. The paralytic rabies may
an important source of infection. In areas with substantial be mistaken for other causes of acute flaccid paralysis like
population of stray animals, the virus remains in circulation. Guillain Barr syndrome or poliomyelitis.
The main source is the virus shedding in the saliva by the
infected animal. The incubation period in the dog ranges Diagnosis
from 2 weeks to 6 months. The shedding of virus occurs
Rabies virus can be isolated from saliva, conjunctival
only 36 days before visible symptoms. The viral shedding
epithelial cells or skin cells at the hairline. The method used
may be variable and only less than half of bites from proven
can be fluorescent antibody stain or reverse transcriptase
rabid animals result in rabies. Claw scratches by animals are
PCR. These tests can be done on the brain tissue also after
also considered dangerous as they lick their paws and leave
the death of a patient.
the virus there. Human to human transmission has not been
reported except for transplants from infected individuals.
Treatment
Pathogenesis There is no specific treatment for rabies. After the onset
of neurological symptoms rabies immunoglobulin also
After the bite, the virus enters the skeletal muscles, multiplies
do not help. WHO has given guidelines on post exposure
and enters the nerves, ascends along the axons to the spinal
prophylaxis (Table 26.12).
cord and eventually brain causing neuronal destruction.
The areas involved include medulla, pons, brainstem, floor
of the fourth ventricle, hippocampus, thalamus and basal JAPANESE ENCEPHALITIS
ganglia. Characteristically the cerebral cortex is spared. The
typical Negri bodies are cytoplasmic inclusions of the virus Aetiology
in the neurons. These can be absent in proven cases. The Japanese encephalitis (JE) is caused by an RNA virus from
combination of brainstem encephalitis with an intact cerebral flaviviridae family and is an arbo-viral disease.
cortex is seen in rabies only.
Epidemiology
Clinical Features
JE as the name suggests was reported from Japan in late
The incubation period of human rabies is extremely 19th century and the virus identified in early 20th century. It
variable. The usual is 20180 days but the extremes have has also been called Japanese B encephalitis to differentiate
been 9 days and 7 years. There may be a prodrome of non- from another type of viral encephalitis called type A. The
Infectious Diseases 559
Table 26.12: Guidelines for post-exposure treatment of rabies coma. A rapid progression of disease is often seen in young
Category Type of contact with Recommendations children with high fatality.
suspect/confirmed domestic/
wild animal/animal Diagnosis
unavailable for observation
The CSF shows pleocytosis (1001000/cumm) with initial
1. Touching or feeding of None if reliable history
animals, Licks on intact is available polymorph predominance followed by lymphocytosis.
skin Confirmation of the diagnosis can be by checking for specific
2. Nibbling of uncovered Administer vaccine immediately. IgM antibodies in the serum or CSF early in the illness or an
skin Stop treatment if animal remains increase of IgG antibodies in paired sera. EEG shows diffuse
healthy throughout an observation slowing. Cranial MRI/CT may show white matter oedema
period of 10 days or if animal is
and hypodense lesions in thalamus, basal ganglia and pons.
killed humanely and found to be
negative for rabies by appropriate
laboratory techniques. Treatment
3. Single or multiple bites or Administer rabies immunoglo- There is only supportive treatment.
scratches. bulin and stop treatment if
Contamination of mucous animal remains healthy
membrane with throughout an observation
Prognosis
Saliva (i.e. licks) period of 10 days, or if animal is Mortality is high especially in children. Neurodevelopmental
killed humanely and found to be
negative for rabies, by appropriate
sequelae are frequently seen in survivors.
laboratory techniques.
Exposure to rodents, rabbits and hares seldom, if ever, requires DENGUE FEVERS
specific anti-rabies treatment.
If an apparently healthy dog or cat, in or from a low risk area is Dengue fevers comprise a group of febrile illnesses caused
placed under observation, the situation may warrant delaying by arthropod borne viruses (Arbo-viruses) including Dengue
initiation of treatment. hemorrhagic fever and Dengue shock syndrome.
This observation period applies only to dogs and cats. Except in the
case of threatened or endangered species, other domestic and wild
animals suspected as rabid should kill humanely and their tissues
Aetiology
examined using appropriate laboratory techniques. The dengue viruses belonging to family flaviviridae have
distribution of JE is mainly in the eastern part of the world, four distinct antigenic types. In addition, there are a few
i.e. Japan, Korea, China, Philippines, Indonesia and the other arbo-viruses, which cause a similar clinical picture.
Indian subcontinent. The vector for this arbo-virus is a
mosquito, Culex tritaeniorhynchus that usually bites large Epidemiology
animals and birds or humans at night time. Culex vishnui The principal vector for all dengue viruses is a mosquito,
is another related species of mosquito, which spreads the Aedes aegypti. Other Aedes species have also been reported
disease in India. As mosquito population is closely related to carry these viruses. At present the disease is endemic
to seasonal changes so JE outbreaks also follow the seasonal to areas, which have suitable breeding environment for the
pattern. specific mosquito. Hence it is the tropical areas like Asia,
Africa, Caribbeans and South America, which have majority
Clinical Features of cases. Explosive outbreaks of dengue occur in urban
The incubation period of 414 days is followed by four areas where A. aegypti is breeding. This mosquito lives in
stages of JE. areas where stored or pooled water is collected and is a day
Prodromal Stage 23 days biting mosquito. The biting rates increase with increase in
Acute Stage 34 days temperature and humidity. The mosquito does not have a
Subacute 710 days wide flight range so the outbreaks and epidemic are usually
Convalescence 47 weeks due to viraemic humans travelling to different areas.
The illness starts with a sudden onset of fever accompanied
by respiratory symptoms and headache. This is soon Pathogenesis
followed by some behavioural changes like disorientation, The exact pathogenetic mechanism for the diverse clinical
delirium or excessive sleepiness. Seizures of generalized presentations of dengue fevers is not yet known. No single
variety may occur in one fourth of patients. The neurological characteristic pathological change has been noticed in the
signs fluctuate from hyperreflexia to hyporeflexia, intention autopsy of patients dying with dengue. It has been observed
tremors and cogwheel rigidity. Patient may progress to that a second exposure or infection by the dengue viruses
560 Hutchison's Paediatrics
is more likely to lead to a significant disease. There are ascites. The liver involvement occasionally can be clinically
infection-enhancing antibodies formed as a result of first manifested as mild icterus also. After 12 days of critical
infection, which on second exposure cause higher degree of illness, the patient can make a quick recovery with return
viraemia and consequently a more severe disease. The second to normal temperature, blood pressure and pulse. There is
infections activate the complement system and there are reabsorption of the intravascular fluid. During this phase,
many factors, which together interact to produce increased careful attention to fluid intake and balance is required as
vascular permeability. This allows fluids to move from intra patient may develop congestive heart failure. There have
to extravascular spaces leading to haemoconcentration and been few reports of dengue encephalitis also in children
hypovolaemia. similar to other viral encephalitis.
The mechanism of bleeding in dengue hemorrhagic
fever is not exactly clear. It may be a combination of factors Differential Diagnosis
like thrombocytopenia, DIC and liver damage. The cause A clinical suspicion in the setting of dengue fever endemicity
of thrombocytopenia is also not well established. There is is usually used to make a diagnosis. As there are other viruses
a maturational arrest of megakaryocytes in bone marrow. causing similar diseases, the term Dengue like disease should
Other mechanisms like antibodies on platelet surface or be used in the absence of specific diagnosis. WHO has given
cross-reacting antibodies have also been considered. guidelines for diagnosing DHF/DSS.
into DHF/DSS. For patients with significant bleeding pregnancy or intrapartum period. In utero transmission can
manifestations and thrombocytopenia, platelet transfusions occur as a transplacental infection or through inflammation
as well as blood transfusions are required. For patients in of the membranes or by materno-fetal transfusion. With
shock rapid intravenous fluid, normal saline bolus is given. early infection fetal loss is more likely. The most frequent
If there is persistent shock or haemoconcentration, colloids timing of transmission of infection is intrapartum (6075%)
in the form of plasma are indicated. and occurs through materno-fetal transfusion. Post-partum
transmission can occur through breastfeeding. The risk of
Case Study
HIV transmission to baby from breast milk ranges from 12
A 13-year-old boy was hospitalised with a history of fever with 14%. The risk is higher in babies on mixed milk feeding as
body ache for one week, generalised rash, and epistaxis on the compared to exclusive breastfeeding.
day of admission. On examination he had a low-grade fever, a
generalised morbilliform erythematous rash and a few petechiae Pathogenesis
on limbs. He had tachycardia otherwise examination of respiratory
The first cells to be infected through mucosal entry of HIV
and cardiovascular system was normal. There was hepatomegaly
are the dendritic cells. These cells transport the virus to
on abdominal examination. Investigations: Hb 14 gm/dl, Total
the lymphatic tissues where it selectively invades the CD4
white cell count 3,000/cumm, P45%, L42% M5%, E3%, Platelets
lymphocytes, monocytes and macrophages.
20,000/cumm.
After infecting CD4 cells there is progressive viral
Diagnosis: Dengue fever.
replication followed by a viraemic phase 36 weeks
after infection. This is associated with flu like symptoms
HUMAN IMMUNODEFICIENCY VIRUS sometimes. Subsequently there is a decline in the viraemia
INFECTION (AIDS) due to the normal immune response of the body. CD8 cells
are of help in containing the initial infection. A variable
Infection with human immunodeficiency virus (HIV) is one
period of clinical latency follows but during this phase viral
of the recently identified diseases. The first case of HIV
multiplication continues. The cytokines play an important
infection in paediatric age group was reported in 1983. HIV
role in sustaining viral load during this phase.
infection eventually leads to acquired immunodeficiency
Following perinatal transmission of infection, there is little
syndrome (AIDS), a disease with a very high mortality.
evidence clinically or virologically of HIV infection at birth.
The viral load increases after first month and viral isolation
Aetiology
by laboratory tests is more likely to be positive between 14
HIV virus is of two types, viz. HIV-1 and HIV-2. They are months of age. The immunological abnormalities in HIV
both RNA viruses of family Retroviridae. HIV-2 is a rare infected children are similar to changes in adults except that
cause of infection in children. as there is physiological lymphocytosis hence the values
for labelling CD4 depletion are different in children. There
Epidemiology is also B cell activation leading to an increased antibody
According to WHO year 2005 estimates, 38,600,000 production and resultant hypergammaglobulinaemia.
persons are living with HIV or AIDS. Out of these children
comprise about 6%. The sub-Saharan Africa, South East Clinical Features
Asian countries like India, Thailand, Vietnam and China After perinatal transmission, there are three types of clinical
dominate the picture. In children, >90% of infection is presentation described. The first presentation is of rapid
through vertical transmission, i.e. from mother to child. progression where the infant presents with features of AIDS
A small percentage is through blood or blood products and in first few months of life. There is a rapid deterioration
transmission through sexual contact or IV drug use seen in with poor survival beyond first year of life. Majority of the
the adolescent age group. children have the second type of presentation. The child is
Perinatal transmission: In HIV positive women, the asymptomatic during initial 12 years and later presents with
perinatal transmission rates can vary from 16-40% if lymphadenopathy, failure to thrive and other features of
no protective measures are undertaken. The risk factors AIDS. The median survival in this pattern is about 6 years.
for higher rates of transmission are advanced maternal The third pattern is of a delayed presentation, which is seen
HIV disease, delivery <37 wks, prolonged rupture of infrequently. The child has no significant features till 810
membranes, vaginal delivery, chorioamnionitis, invasive years of age followed by full AIDS presentation.
procedures (e.g. amniocentesis) and haemorrhage in labour. The usual presenting features in developing countries
The transmission of infection can occur any time during are chronic or recurrent diarrhoea, failure to thrive
562 Hutchison's Paediatrics
and wasting. There may be accompanying chronic or of serious disease in such children. Various opportunistic
recurrent mucocutaneous candidiasis, lymphadenopathy infections are listed below.
and hepatosplenomegaly. In infants the initial presentation
may be a severe respiratory distress due to Pneumocystis Opportunistic Infections
carinii infection. CNS involvement is also more common in Pneumocystis carinii pneumonia
children. The symptoms have been categorized by CDC as Candidiasisoesophageal or pulmonary
shown below. Tuberculosis
Mycobacterium avium
Staging of Paediatric AIDS Cytomegalovirus
[Centres for Disease Control (1994) Criteria] Cryptosporidiosis
Non-tuberculous mycobacteria
Category N Herpes zoster
Asymptomatic, no signs or symptoms or only one of the Toxoplasmosis.
conditions listed in Category A. Mycobacteria and HIV share a symbiotic relationship
Category A: Mildly symptomatic or two or more of the in HIV infected patients. Both tuberculosis as well as non-
following conditions. tuberculosis mycobacteria, can cause difficult to treat,
Lymphadenopathy disseminated and resistant disease.
Hepatomegaly Candidial infections also occur in a more widespread
Splenomegaly fashion often involving oesophagus along with oral cavity.
Parotitis Out of viruses, Herpes group, both zoster and simplex are
Dermatitis frequent offenders.
Recurrent or persistent upper respiratory infection.
Category B: Moderately symptomatic conditions Diagnosis
attributed to HIV infection. If any one of the parents is known to be having HIV
Severe bacterial infections infection, the infant/child must be screened for it. In others,
Lymphoid interstitial pneumonia the indications for HIV testing are given below.
Anaemia In asymptomatic children:
Neutropenia Parent at high risk for HIV infection, e.g. truck drivers,
Thrombocytopenia IV drug users.
Cardiomyopathy Children receiving transfusion or blood products, etc.
Nephropathy In symptomatic infants and children:
Hepatitis Recurrent, severe bacterial infections
Diarrhoea Opportunistic infections
Candidiasis. Poor response to antitubercular treatment
Category C: Severely symptomatic, two serious bacterial Evidence of congenital TORCH infection
infections. Unexplained wasting, neuroencephalopathy, myopathy,
Encephalopathy (acquired microcephaly, cognitive delay hepatitis, cardiomyopathy, nephropathy
and abnormal neurology) Hyperimmunoglobulinemia.
Opportunistic infections (Pneumocystis carinii pneumonia, Viral cultures are the gold standard for diagnosis of HIV
cytomegalovirus, toxoplasmosis, disseminated fungal and have 100% specificity. The culture requires 23 weeks,
infections) is labour intensive and expensive. The alternative, PCR for
Disseminated mycobacterial diseases viral DNA or RNA, is also specific and sensitive. The assay
Cancer (Kaposis sarcoma, lymphomas). for p24 antigen of HIV has also been frequently used with
good specificity but less sensitivity.
ASSOCIATED INFECTIONS
PERINATAL TRANSMISSION
As HIV causes serious disturbances in immune system,
associated infections are almost universal and very often the At birth all infants born to HIV positive mothers have
presenting feature. Any organism bacteria, viruses, protozoa placentally transferred antibodies. These decline slowly in
or fungi can cause serious systemic sepsis in HIV infected 612 months time. Only at age 18 months or more, if the
children. Opportunistic organisms are also frequent causes antibody test is positive that can be used as an indicator of
Infectious Diseases 563
infection in the child. In a neonate born to an HIV positive and continue through intrapartum period followed by 6
mother virological assay (PCR/culture/p24 antigen) provide weeks therapy in the infant. Recently oral Nevirapine, an
reliable results. If anti-retroviral therapy is to be started, it NNRTI, has been used effectively for reducing the perinatal
is recommended that testing should be done within 48 hrs of transmission. It is given as a single oral dose to the mother
birth, at 46 weeks of age and or 46 months of age. Two during labour followed by a single oral dose to the neonate
positive tests from different samples confirm the transmission within first 48 hours. This strategy has been effective in the
of HIV infection to the infant. On the other hand if two developing countries as Nevirapine is inexpensive and only
different tests of which one should be at 46 months of age are two oral doses are required. It has been adopted as a National
negative then HIV infection can be excluded. At 18 months program in India. In addition to anti-retroviral therapy in
age, in an asymptomatic infant, two negative antibody tests mother, caesarean section and preventing prolonged rupture
exclude HIV infection. of membrane are also helpful in reducing transmission.
Breastfeeding can be responsible for up to 14% risk of
Older Infants and Children HIV transmission but the decision to breastfeed or not must be
In older infants and children, two or more HIV antibody taken after discussion with the mother regarding implications
tests done by different techniques on different samples are of giving animal milk. Mixed feeding, i.e. breast + animal
recommended to make a diagnosis. Once HIV infection is milk should be avoided. If breastfeeding, then at 3 months of
diagnosed in a child further evaluation is done by complete age an early and abrupt weaning is recommended.
blood count along with CD4 and CD8 lymphocyte counts. For prevention in adolescents, sex education and
Additional tests depend on the extent and type of systemic awareness especially regarding condom use must be
involvement. propagated.
Treatment MALARIA
At present the available antiviral drugs suppress the virus and
Aetiology
help in making the disease less aggressive. There are two
broad categories of antiviral drugs, viz. Intracellular protozoa, Plasmodium, cause malaria. There are
Protease inhibitors (PI), e.g. four species of plasmodium that infect humans viz P. vivax,
Reverse transcriptase inhibitors which are further P. falciparum, P. malariae and P. ovale. Female anopheles
classified as nucleoside (NRTI) or non-nucleoside mosquitoes transmit it during a blood meal on humans. It can
(NNRTI), e.g. also be a transfusion transmitted infection or a transplacental
The basic principle of anti-retroviral treatment is infection from mother to the fetus.
combination therapy with 2 NRTI + PI or 2 NRTI + 1
NNRTI. Monotherapy is only used in prevention of Epidemiology
perinatal transmission. Initiation of therapy in HIV infected Malaria occurs worldwide but the endemicitiy depends on
asymptomatic children needs appropriate consideration. the mosquito population. In areas with suitable environment
In symptomatic children or in those with evidence of for mosquito breeding, the incidence of malaria is high, e.g.
immunosuppresion treatment is definitely indicated. Africa, Asia and South America. P. falciparum and P. vivax
are more commonly seen in sub-Saharan Africa and Indian
Supportive Treatment subcontinent. P. ovale is rare and seen mainly in Africa.
Attention must be paid to the nutrition of child; frequent P. malariae is the rarest.
evaluation of growth and development is necessary. All
vaccinations except live attenuated ones can be given safely. Pathogenesis
In asymptomatic infants live vaccine may also be given. In Plasmodia have two parts of their life cycle, sexual
all infants and in immunosuppresed children, Pneumocystis and asexual phase, in vector mosquito and human host
carinii prophylaxis with cotrimoxazole must be given. respectively. In the humans there are two stages. First
Frequent screening for tuberculosis must be done. stage in the liver, the exoerythrocytic phase and the second
one in RBCs, the erythrocytic phase. Mosquito bites the
Prevention human host and releases sporozoites in the blood stream,
Prevention of perinatal transmission of HIV is a unique which quickly enter the hepatocytes. In the hepatocytes
opportunity for protecting the infant. One of the standard the sporozoites multiply, become schizonts and rupture the
regimens is to give zidovudine to the pregnant woman cell. On rupture of hepatocytes, thousand of merozoites
564 Hutchison's Paediatrics
Hypoglycaemia TOXOPLASMOSIS
Thrombocytopenia
Splenic rupture may occur if spleen is greatly enlarged or Toxoplasmosis is a disease with many varied presentations.
there is trauma. It occurs in neonates as a transplacental infection and
in immunocompromised older individuals. Healthy
Treatment immunocompetent persons rarely manifest clinical disease.
All Plasmodium species are treated with oral Chloroquine
Aetiology
phosphate 10 mg base/kg (maximum: 600 mg base) then
5 mg base/kg (maximum: 300 mg base), 6 hr later, and 5 The causative organism is an intracellular protozoa,
mg base/kg per 24 hr (maximum: 300 mg base) at 24 and Toxoplasma gondii. The infection occurs after ingesting
48 hr. Parenteral drug of choice if required is Quinine oocysts, which may be present in the contaminated foodstuff
dihydrochloride 20 mg/kg loading dose over 4 hrs, then 10 especially infected meat. The oocysts are released in the
mg/kg over 24 hrs q8 hrly (max. 1200 mg/24 hrs) until environment by cats in their faeces. Cats acquire the infection
oral therapy can be started. In areas of known Chloroquine after ingesting mice infected with encysted bradyzoites of
resistance Quinine sulfate Plus Tetracycline or plus T. gondii.
Pyrimethamine-sulfadoxine combination is given. Another
alternative is Mefloquine hydrochloride Epidemiology
T. gondii occurs as a latent infection among humans throughout
Prevention of Relapses (For P. vivax and Ovale only) the world with a higher prevalence in warmer, humid area.
Primaquine phosphate in the dose of 0.3 mg base/kg per 24 The route of infection is by ingestion of contaminated meat
hr for 14 days (maximum: 15 mg base) should be given. containing oocysts or transplacental or transfusion transmitted.
Primaquine phosphate can cause haemolytic anaemia in There is no direct person-to-person transmission. The oocysts
patients with glucose-6-phosphate dehydrogenase (G6PD) ingested by cats undergo schizogony and gametogenesis in
deficiency. A G6PD screening test should be performed the intestines and form sporocysts, which are excreted in the
before initiating treatment. faeces and remain viable in a suitable environment for 1 year.
Along with specific treatment, the child may need They can be destroyed by drying, boiling or by some strong
additional fluids during acute stage. In a severe case, chemicals. Other animals, e.g. sheep, pigs and cows become
anaemia needs attention. Haematinics to bring up the infected by ingesting the cysts and develop viable tissue cysts
haemoglobin should be given on recovery. Preventive in muscles and brain. Humans eating partially cooked or
measures for mosquito breeding as well as from bites must uncooked meat of these animals ingest these cysts.
be reinforced. Congenital toxoplasmosis occurs in case mother acquires
the infection during pregnancy. In the first trimester, the
Case Study likelihood of transmission is low but the resultant fetal
An 8-year-old girl was brought to the paediatric service with a infection is severe. In 3rd trimester, almost 65% of fetuses
history of fever for 4 days, which went up to 104F accompanied, are infected but the disease is either mild or inapparrent.
by a feeling of chills. She also had mild cough and vomiting.
Examination showed pallor and no jaundice. Examination of Pathogenesis
abdomen revealed a mild hepatomegaly of 3 cms while spleen T. gondii can multiply in any mammalian tissue. They cause
was enlarged to 4 cm and was firm in consistency. Rest of the
necrosis and an immunological reaction. In healthy persons,
systemic examination was normal, Investigations: Hb 9 gm/dl,
the tachyzoites soon disappear from tissues to become
Total leucocyte count 5,400/cumm, P 60%, L 40%. Peripheral
latent. They cause characteristic changes in lymph nodes.
smears showed Plasmodium vivax schizonts.
In congenital toxoplasmosis, CNS, eyes, heart, lungs, liver,
Diagnosis: Malaria caused by P. vivax.
spleen and muscles can be involved with the necrotic lesions.
Lymphadenopathy can wax and wane for 12 years. One of motile and reach the large intestines. In the colon, they
the frequently caused presentations is of chorioretinitis. attach to the mucosa and cause tissue destruction by various
Congenital infection can present as intrauterine growth cellular products. This leads to ulceration of the mucosa but
retardation, prematurity, prolonged jaundice. The classical surprisingly there is little local inflammatory response. The
triad is of chorioretinitis, hydrocephalus and cerebral organisms spread laterally from the ulcerated areas causing
calcification. Severe manifestations include hydrops fetalis further destruction and leading to the typical flask-shaped
and perinatal death. The infants with inapparrent infection ulcers. The trophozoites invade liver also producing similar
often present with ocular involvement later in life. lesions but again with no inflammatory reaction.
3 divided doses for 10 days. For giving dehydroemetine, the no prior exposure to giardia the presentation can start as
patient has to be hospitalised. Chloroquine is concentrated acute diarrhoea. In another manifestation, the child may have
in the liver and considered useful for liver abscess. Surgical intermittent diarrhoea, which is accompanied by abdominal
management of liver abscess is recommended if there is a poor cramps, distension, flatulence and loss of appetite. There
response after a week of treatment with amoebicidal drugs. may be features of increased gastro-colic reflex. The stools
become greasy and foul smelling. There are no blood, mucus
Case Study or pus cells in stools. Chronic giardiasis can present as mal-
A 10-year-old boy was hospitalised with a history of high-grade absorption with significant weight loss.
intermittent fever for one week, pain in abdomen for 4 days. He
had diarrhoea for about 23 weeks previously. On examination, Diagnosis
he was mildly icteric, pale, febrile and sick looking. His vital signs Demonstration of giardia cysts or trophozoites in stool sample
were stable. On chest examination, the movements and breath is diagnostic. A fresh stool sample (within 1 hour of passage)
sounds were diminished in the right lower zone but there were is more likely to be positive and repeated examinations are
no adventitious sounds. Abdomen had an enlarged, tender helpful. In some cases, if necessary, duodenal aspirates or a
hepatomegaly of 8 cms in midclavicular line. There was no biopsy can show the trophozoites.
splenomegaly. Hepatic punch was positive. Investigations: Hb
9 gm/dl, TLC 20,000/cumm, P80%, L20%, blood film showed Treatment
normocytic, normochronic anaemia. Serum liver function tests
were abnormal. Ultrasonography of abdomen showed a large 6
A number of drugs are effective for treating giardiasis.
8 cms abscess in right lobe of liver near the dome of diaphragm
Albendazole in a dose of 10 mg/kg per day for 5 days is safe
with restricted mobility of diaphragm.
and effective. It is also helpful in treating mixed infection, as
Needle aspiration of the abscess revealed chocolate brown
it is an antihelminth also. Tinidazole is effective in a single
thick fluid.
dose of 50 mg/kg. Metronidazole, Furazolidone, Quinacrine
Diagnosis: Amoebic liver abscess.
are other drugs that are used.
Case Study
GIARDIASIS A 7-year-old child had history of recurrent diarrhoea for 6 months.
The stools were pale yellow foul smelling, greasy and did not
Aetiology contain blood or mucus. He had abdominal pain off and on and an
Giardia lamblia is a flagellate protozoon, which causes urge to pass stool after every meal. He had lost weight and looked
primarily an intestinal infection. Giardia cysts are infective pale. There were no other findings on examination. A fresh stool
in even small numbers. examination showed trophozoits of Giardia lamblia.
Diagnosis: Giardiasis.
Epidemiology
Giardiasis is the commonest intestinal parasitic infection the Key Learning Point
world over. It is more common in areas of poor sanitation Giardiasis can cause a clinical presentation similar to
and hygiene and in institutionalised children. Drinking malabsorption syndrome. Examination of fresh stool or
contaminated water is a frequent source of infection but duodenal aspirate confirms the diagnosis.
other foodstuffs can also transmit infection. The cysts are
resistant to chlorination and ultraviolet radiation but boiling
inactivates them.
KALA AZAR (VISCERAL LEISHMANIASIS)
Pathogenesis Leishmania are a group of organisms causing diverse
After ingestion, the cysts produce trophozoites, which diseases transmitted by sandflies. There are a number of
colonize the duodenum and jejunum. They attach to the species, which cause cutaneous or mucosal disease and also
brush border of the intestinal epithelium and multiply there. visceral disease.
The trophozoites pass to intestines and are encysted to form
the cysts, which are then excreted in the stools. Aetiology
Leishmania are protozoa belonging to trypanosomatidae
Clinical Features family. They have two morphological forms, a flagellate
The incubation period is usually 12 weeks but can be longer. organism in the insect known as promastigote and the
Most infections may remain asymptomatic. In children with aflagellate form in the humans, amastigote.
568 Hutchison's Paediatrics
Epidemiology
Leishmaniasis occurs in most parts of the world except
Australia and Antarctica. The various types of leishmaniasis
are specific to the regions of the world. Leishmania causing
cutaneous disease does not cause visceral involvement.
Leishmania enters the vector sandfly and changes from
promastigote to an infective stage and migrates from the gut to
mouth of the sandfly. From the mouth they are inoculated into
the host during a blood meal. In endemic areas, leishmanial
cycle is continued as a zoonosis with humans being incidental
hosts. The reservoir for visceral forms is dog.
Pathogenesis
Leishmania after inoculation into the host, enters the
macrophages. Inside the macrophages, the promastigote
form change to amastigote form and start multiplying. They Fig. 26.11: Leishmania donovani (LD) bodies seen in bone marrow
rupture the cell to infect more macrophages.
Amphotericin B especially liposomal variety, has been
Clinical Features shown to be highly effective even among those refractory or
resistant to antimony compounds. Pentamidine has also been
The children may have an asymptomatic infection. Some used but higher doses and prolonged treatment is required.
children develop a symptomatic illness with fever, malaise, In addition, supportive treatment to improve nutritional
fatigue accompanied by a mild hepatomegaly. In all but few status is important. In cases with severe pancytopenia, blood
this resolves spontaneously. In few it progresses slowly over component therapy may prove life-saving.
weeks and months to Kala azar. There is intermittent fever,
weakness and splenomegaly. As the disease progresses fever Case Study
becomes higher, there is weight loss and hepatosplenomegaly. A 9-month-old girl was admitted to a childrens hospital, with
The patient has severe anaemia and may develop heart failure a 10-day history of lethargy, pallor, fever, and poor feeding.
due to this. Oedema and jaundice are also present. As spleen On examination she was found to have a mass in the left
becomes massive, features of hypersplenism in the form of hypochondrium. She was febrile and miserable. Her Hb was
thrombocytopaenia and pancytopenia develop. 65 g/l, white cell count 6.3 109/l, and platelets 41 109/l.
Initially she was thought to be suffering from a malignant
Differential Diagnosis condition and was investigated accordingly. Bone marrow
The conditions causing pyrexia with hepatosplenomegaly, examination, blood culture, chest radiography, skeletal survey
anaemia are to be considered in differential diagnosis of and urine catecholamines were all normal. Abdominal ultrasound
visceral leishmaniasis. examination showed the mass to be a massively enlarged spleen.
She was given a blood transfusion and antibiotics after which
Diagnosis her general condition improved, although she continued to spike
a fever two to three times a day. By the third day after admission,
Amastigote forms, also known as Leishmania donovani the results of the above investigations were all negative and the
(LD) bodies, are found intracellularly in tissues like liver, possibility of visceral leishmaniasis was raised. The child had
spleen and bone marrow. A positive bone marrow or spleen been on holiday to an endemic area where leishmaniasis is known
aspiration for LD bodies provides confirmation of diagnosis to occur. The bone marrow examination showed the presence of
(Fig. 26.11). An ELISA test using a recombinant antigen Leishman Donovan bodies. Also Leishmania serology became
also has high sensitivity and specificity. positive five weeks after presentation.
She was treated with sodium stibogluconate 20 mg/kg per
Treatment day for 10 days followed by 10 mg/kg per day for another 10 days.
Her temperature settled within two days of starting treatment. Her
The specific treatment for visceral leishmaniasis has remained
platelet count returned to normal within seven days and by the
unchanged for more than four decades. Pentavalent antimony
10th day of treatment her white cell count reached normal values.
compounds, sodium stibogluconate is given as 20 mg/kg per
She made an uneventful recovery.
day IV/IM for 34 weeks. Complete recovery can take a Diagnosis: Visceral leishmaniasis.
few months and sometimes even repeated courses. Recently,
Sarada David, Kirsteen J Thompson
C H A P T E R
Paediatric Ophthalmology
Assessing Vision
There are several key factors to be considered when assessing
vision in young children.
Young children are neither in a position to understand
normality of visual ability, nor can they articulate what
they can or cannot see.
A difcult examination of a child is usually due to
a difcult examiner rather than a difcult child.
Entering a childs mindset, setting them at their ease,
and maintaining patience and respect throughout the A
examination may be a daunting thought for some of us,
particularly in the presence of anxious parents. However,
it is a skill we ignore at our peril. Once the skill is
mastered, or even haltingly attempted, clinic appointments
can become something child and examiner alike, look
forward to, though fewer are likely to be required, and
the nal outcome has a much greater likelihood of being
successful and satisfying for all parties involved.
A childs general demeanour and ability to move around
and to communicate is not necessarily a guide to the level
of their visual function, as different aspects of general
development as well as of visual development, may be
impaired in different disease states. A child can have
B
very poor clarity of visual acuity and yet have practically
normal mobility.
Accommodation of the lens is easily stimulated in
children and resting accommodative tone is high. Thus,
accurate assessment of refractive error must always be
performed after full cycloplegia using cyclopentolate or
atropine drops.
Strabismus
Strabismus, or squint, refers to a deviation of an eye due to
an imbalance of function of the extra-ocular muscles such Fig. 27.7: Leukocoria: A white pupillary reex. Retinoblastoma must
that both eyes do not function together. There may be eso- or be excluded
exo-, hyper- or hypo- deviation, representing convergence,
degree of stereopsis present is also noted as this affects the
divergence, depression and elevation of the eye respectively.
nal prognosis of treatment.
Occasionally, a torsional abnormality is present. Most
Treatment of strabismus includes the following measures as
strabismus in children is concomitant, i.e. similar in
indicated:
magnitude in all positions of gaze. Incomitant strabismus
Accurate refractive correction and ensuring that
varies in magnitude with gaze in different directions, and
spectacles t well, and are worn
is associated with paresis or palsy of the third, fourth, or
Treatment of underlying causes of amblyopia such as
sixth cranial nerves. The commonest type of strabismus
refractive error (as above) or cataract
encountered in paediatric practice is a concomitant congenital
Treatment of amblyopia itself (in children under 78
esotropia, which may not present until 23 years of age.
years), by occlusion of the other eye, and detailed visual
Strabismus may be latent (termed a phoria) and brought
tasks given, such as drawing or reading
out only by dissociating the two eyes by alternate cover
Exercises to strengthen accommodative convergence and
testing, or manifest (a tropia) even before testing. It may be
fusional range
intermittent or constant, and there may be alternate xation
Surgery to re-align the visual axes by weakening and/
of each eye or, in large angle esotropia, cross-xation (in
or strengthening the appropriate extraocular muscles by
which the child uses the right eye to look to the left and the
recession or resection of the muscle insertions. Due to
left eye to look to the right).
the dynamic nature of extra-ocular muscle imbalance, a
Amblyopia is both a cause and a consequence of
single surgical procedure may not sufce. Patients and
strabismus, and should therefore be identied and treated as
their carers should always be prepared for the possibility
early as possible.
of further surgery.
Uncorrected refractive error, particularly hypermetropia
in young children, may cause strabismus.
NYSTAGMUS
A red reex should be sought in every child with a squint
because conditions such as cataract or retinoblastoma with Nystagmus in children can be congenital or acquired.
reduced acuity (with or without amblyopia) can present with Congenital nystagmus has the following features:
squint and may cause a white pupil (leukocoria) (Figure Onset during the rst month of life
27.7). The meridian of the nystagmus is the same in each
There is a higher incidence of strabismus following position of gaze (it is uniplanar)
premature birth, in individuals with a positive family history The nystagmus tends to be greater on distance xation
of strabismus and in children with other developmental and least on near xation
abnormalities. There is a position in which the nystagmus is least (the
null position)
Management There may be a head posture to place the eyes in the null
On diagnosing strabismus, ndings on base-line examination position to optimise vision
are documented, including the magnitude of the deviation in Compensatory head nodding to stabilise the eyes can
prism dioptres, enabling comparison with future tests. The occur.
574 Hutchison's Paediatrics
The causes of congenital nystagmus include: function, which may require appropriate action to be taken to
Idiopathic motor nystagmus, which may be idiopathic or ensure that school material is enlarged or magnied.
inherited with dominant or recessive inheritance
Albinism (look for fair hair, pale complexion, iris trans- INTRAUTERINE INFECTIOUS DISEASES
illumination, and macular hypoplasia)
Maternally transmitted infections can be remembered
X-linked ocular albinism (most commonly in boys) (In
by the acronym TORCHES (Toxoplasmosis, rubella,
this condition there is patchy iris trans-illumination, but
cytomegalovirus, herpes viruses including the Epstein-Barr
the hair may be dark coloured and the skin pigmented)
virus, and syphilis). These infections have a broad range
Congenital stationary night blindness in which there is
of presentations, from subclinical forms to severe organ
poor rod photoreceptor function (ask whether the child
damage. Continuous tissue damage can occur throughout
can see in dark conditions)
life; therefore long-term follow-up is necessary.
Achromatopsia in which there is rapid ne horizontal
nystagmus (ask whether the child is photophobic and sees Toxoplasmosis
better in dark conditions than in daylight)
Optic nerve hypoplasia (look for small optic nerve heads) Toxoplasma gondii is an obligate intracellular protozoan
Achiasmia (look for bitemporal visual eld impairment) parasite. Feline animals are the denitive hosts. Infected
Damage in the occipital area of the brain, in particular rodents, farm animals, birds, and humans serve as the
damage to the white matter (posterior periventricular intermediate hosts. Cats shed millions of oocysts in their
leukomalacia). faeces, and when these oocysts are then ingested by the
Acquired nystagmus has the following features: intermediate host, the cyst wall dissolves releasing actively
The key feature is that the pattern of nystagmus is not dividing tachyzoites. These are transported via intestinal
uniplanar and is different in different positions of gaze lymphatics to various organs. Dissemination occurs to
The causes of acquired nystagmus include loss of vision, liver, lung, heart muscles and eyes. Once host immunity
tumours in the region of the chiasm and posterior fossa is established, the organisms transform to bradyzoites
tumours. contained within tissue cysts. Bradyzoites lie dormant within
the tissues of the intermediate host and when conditions are
Clinical Assessment of Patients with Nystagmus favourable, cause reactivated infection. The stimulus for
local reactivation of an infected cyst is unknown. Humans
History taking seeks a family history and determines whether are infected when they ingest oocysts or contaminated
vision is worse in dark or daylight conditions. A history of meat containing tissue cysts. Other modes of infection are
premature birth may suggest periventricular leukomalacia. transplacental transmission, organ transplantation and blood
As in all patients with an eye problem vision is assessed. product transfusion.
The pattern of nystagmus is assessed in each position of
gaze. If the nystagmus is uniplanar then it is very likely to be Clinical Features
congenital in origin. If it is not, and the pattern of nystagmus
is different in different positions of gaze, imaging of the brain Systemic infection is mild and usually goes undiagnosed.
must be carried out to seek evidence of organic pathology Clinical features include fever, headache, sore throat and
such as tumours in the region of the chiasm or brainstem. diffuse lymphadenopathy. If the mother is acutely infected
Eye examination seeks evidence of blinding pathology during pregnancy, transplacental transmission can occur.
such as cataract, iris transillumination, macular hypoplasia, Congenital toxoplasmosis is described as a triad of convulsions,
optic nerve hypoplasia and optic atrophy. cerebral calcication and retinochoroiditis. If the foetus is
Investigation by electroretinography detects rod and cone infected in the rst trimester, the resultant illness may be
photoreceptor dysfunction. Visual evoked potentials may severe, with microcephaly, seizures and hepatosplenomegaly.
be delayed and reduced in amplitude if there is pathology Ocular manifestations include retinochoroiditis, often involving
affecting the visual pathways or the brain. Brain imaging is the macula, iritis, anterior and posterior uveitis, optic atrophy,
carried out if pathology is suspected. strabismus and nystagmus. Infections acquired later in gestation
are less severe and may be asymptomatic. Strabismus and poor
vision are due to macular scarring, which can be bilateral.
Management
Many cases of acquired toxoplasma retinochoroiditis are
Vision is optimised by spectacle correction if required for due to reactivation of a congenitally acquired infection. The
refractive error. Treatable blinding pathology is identied active area of retinochoroiditis is often at the edge of an old at
and treated (e.g. cataract). Nystagmus reduces visual atrophic scar, a so-called satellite lesion.
Paediatric Ophthalmology 575
Diagnosis
Diagnosis is primarily clinical, based on characteristic retinal
lesions. The presence of IgG or IgM antibodies in serum
can be detected by ELISA (Enzyme-linked immunosorbent
assay). Any positive testing, even undiluted, is signicant.
The presence of IgM in the infant serum is evidence of
congenital infection because maternal IgM does not cross
the placenta. Indications for treatment include a lesion
threatening the macula or optic nerve head and severe vitritis.
All immunocompromised patients should be treated.
Treatment
Triple drug therapy is commonly used and consists of
pyrimethamine (50 mg loading dose, then 25 mg orally
twice daily), sulfadiazine (1g orally four times a day) and Fig. 27.9: Toxoplasma retinochoroiditis showing active and inactive
prednisolone (2040 mg or more, started 12 days after the lesions
other drugs). Pyrimethamine can cause thrombocytopaenia,
leucopaenia and folate deciency. The drug is used only
in combination with oral folinic acid (35 mg orally three
times per week) to counteract the side effects. Weekly blood
counts are required during therapy. Alternative drugs that
can be used are co-trimoxazole (septrin), azithromycin
and clindamycin. Atovaquone has been used mainly for
immunocompromised patients (Figs 27.8 and 27.9).
Diagnosis
Diagnosis is based on a characteristic clinical picture, which
may include any of the above features, and is supported by
positive serum titres of antibody against the rubella virus.
However, a negative antibody titre does not rule out rubella
as antibodies may disappear with time.
Treatment
Rubella cataract is managed by lensectomy. Intense post-
operative inammation may follow and requires adequate
Fig. 27.8: Active toxoplasma retinochoroiditis control with topical steroids.
576 Hutchison's Paediatrics
Diagnosis
It is done by the venereal disease research laboratory test
(VDRL), the uorescent treponemal antibody absorption
(FTA-ABS) test, or a micro-haemagglutination assay with
Treponema pallidum antigen (MHA-TP).
effectively treated, ulceration can progress rapidly leading to immunoassays and direct immunouorescent antibody tests
perforation of the cornea, iris prolapse and lens extrusion. are available.
If the corneal ulceration heals with or without perforation,
corneal scarring and opacication occur, causing reduced Treatment
vision or loss of vision. The treatment of chlamydial conjunctivitis includes topical
erythromycin ointment 34 times/day or ciprooxacin drops
Diagnosis
23 hourly along with oral erythromycin 3050/kg per day
Gram staining of conjunctival scrapings reveals gram- in divided doses.
negative intracellular diplococci.
Herpes Simplex
Treatment
Most cases of neonatal herpetic conjunctivitis are due to
Topical erythromycin ointment 24 hourly and intravenous Herpes simplex type II, but approximately one third are
or intramuscular ceftriaxone 3050 mg/kg/day in divided caused by Herpes simplex type I. The onset is usually
doses are the treatment of choice. Gentamicin drops hourly between 1 and 2 weeks after birth. Presenting signs are a
and penicillin G injections 50,000 units/kg per day every watery discharge and conjunctival injection. Fluorescein
12 hours for 7 days are an effective alternative treatment. staining of the cornea shows punctate keratitis or dendritic
However, penicillin-resistant gonococci may be involved. ulceration.
The orbit is a pear-shaped cavity surrounded by bony walls, All children with orbital cellulitis (any stage) must be admitted
tapering posteriorly into the orbital apex and the optic canal, to hospital and investigations performed to identify the
which contains the optic nerve. The cavity contains the source of infection. Material for culture and Grams stained
globe, extraocular muscles, nerves, blood vessels, brous smear should be taken from the abscesses or nasopharyx.
tissue and fat. The orbit is surrounded by the paranasal Signs of central nervous system involvement warrant lumbar
sinuses. The ethmoid air cells begin to develop in the second puncture. Blood cultures are taken if leucocytosis and fever
trimester and maxillary sinuses by 2 years of life. The frontal are present.
sinus develops between the fteenth and seventeenth year.
Treatment
Infection from the sinuses spreads easily to the orbit through
incomplete bony walls and the valveless veins of the orbit The antibiotic of choice for children with orbital cellulitis is
and sinuses. parenteral cefuroxime, 100 mg/kg per day divided into three
Other sources of infection are facial skin, ear, teeth, or four doses. The drug penetrates well into the soft tissues,
direct inoculations after trauma and bacteraemic spread bones and cerebrospinal uid. Alternative regimens include
from a distant focus. Since the orbit is surrounded by bony Inj. Cloxacillin 100150 mg/kg per day and gentamicin 35
walls, infection and inammation cause increase in intra- mg/kg per day. If there is no response within 24 hours, the
orbital pressure leading to compromise of ocular and optic plan of management should quickly proceed to CT scan of
nerve function. Severe complications may result including the orbit and sinuses. If there is no direct site of inoculation
cavernous sinus thromboses and intracranial abscess. seen, adequate drainage of a sinusitis abscess should be
Therefore, orbital cellulitis must be promptly recognised and performed to prevent complications. The condition should
aggressively treated. be managed jointly by the ophthalmologist, paediatrician and
neurologist, if necessary (Fig. 27.12).
Classication
Orbital cellulitis can be classied into ve stages as described ALLERGIC CONJUNCTIVITIS
by Chandler. Allergic conjunctivitis is a type I hypersensitivity reaction
1. Preseptal cellulitis: Inammation conned to the eyelids caused by interaction between allergens and IgE antibodies
with mild anterior orbital involvement. Ocular motility on the surface of mast cells in the conjunctiva. This
and visual function are normal. interaction causes degranulation of mast cells and release
2. Orbital cellulitis: The four cardinal signs of orbital of mast cell mediators. The mediators that are implicated
involvement are eyelid oedema, chemosis, proptosis and in allergic ocular disease include histamine, leukotrienes,
loss of motility. Visual impairment may occur. eosinophilic chemotactic factors (ECF), eosinophilic
3. Sub-periosteal abscess: Collection of pus within the sub- granule major basic protein (EMBP), platelet-activating
periosteal space causes local tenderness, uctuation and
non-axial proptosis.
4. Orbital abscess: Progression of cellulitis leads to
intraconal and extraconal loculation of pus. Proptosis,
inammatory signs, ophthalmoplegia, visual decit and
systemic toxicity are increased at this stage.
5. Cavernous sinus thrombosis: Proptosis progresses
rapidly and frequently becomes bilateral, and changes
in mental state occur. Meningitis or intracranial abscess
may follow. Inammatory cells are present on lumbar
puncture.
Diagnosis
The commonest organism causing orbital cellulitis is
Staphylococcus aureus, followed by H. inuenzae and M.
catarrhalis. Fig. 27.12: Left orbital cellulitis
Paediatric Ophthalmology 579
Types
LACRIMAL SYSTEM
Anatomy
The lacrimal system consists of epithelium-lined passages
that drain tears from each eye to the nasal cavity. Tears
enter a punctum at the medial end of each eyelid, proceed
through the upper- and lower-canaliculi, which then form
a common canaliculus on each side, and enter the lacrimal
sac. This leads to the nasolacrimal duct, which opens into
the inferior meatus of the nose beneath the inferior turbinate
Fig. 27.13: Allergic conjunctivitis bone. The opening of the upper and lower canaliculi into
580 Hutchison's Paediatrics
the common canaliculus is guarded by a one-way valve, the resolves spontaneously in the majority of the cases. Beyond
valve of Rosenmller. The membranous opening into the one year of age, the rate of spontaneous resolution is
nose is called the valve of Hasner. signicantly reduced.
separates from surface ectoderm by 6 weeks gestation, if not treated urgently and adequately, progresses rapidly to
and by 4 months gestation, the corneal endothelial layer is corneal melting and perforation.
complete. However, the iris insertion at this stage is anterior The earliest symptom of vitamin A deciency is night
to the primitive trabecular meshwork (neural crest cells), and blindness. This should be specically asked about in
gradual posterior migration continues until the end of the rst consultations or in paediatric eye screening programmes,
year of life. in developing countries. If vitamin A remains decient,
Abnormalities of neural crest cell migration, proliferation the conjunctiva becomes dry, with a wrinkled, reddened or
or differentiation may occur, and present as a spectrum of pigmented appearance. Bitots spots may form on the exposed
anterior dysgenesis syndromes. conjunctiva, lateral, and sometimes medial, to the cornea.
They appear like a triangular or irregular area of froth or
Corneal Size and Shape in Childhood tiny bubbles on the conjunctiva, sometimes with underlying
In the neonate, the normal horizontal corneal diameter is 9.5 pigmentation. Adequate treatment with vitamin A at this
10.5 mm, which grows to reach 12 mm, the average adult stage, and ensuring that inadequate dietary intake as well
corneal diameter, by the age of two years. Abnormalities of as conditions causing diarrhoea and vomiting are properly
corneal size or shape may be evident at birth, and may show a managed, can prevent the occurrence of keratomalacia and
characteristic inheritance pattern, or may occur sporadically. blindness. Conversely, neglect of early signs of vitamin
They may be associated with other abnormalities of the eye, A deciency results in a high risk of adherent leukoma
and may be part of a syndrome affecting other systems of the formation. A dense corneal scar develops, due to corneal
body also (Box 27.6). perforation with adherence to the iris and lens, causing
cataract. Secondary infection may result in endophthalmitis.
Causes of Corneal Opacity in Childhood The latter may be life-threatening, as is continuing, untreated
vitamin A deciency (Figs 27.17 and 27.18).
Corneal disease remains the commonest cause of childhood
blindness in the world today.
In the developing world, poor nutrition and the inadequacy
of public health measures such as the provision of sanitation and
immunisation remain key factors. In more afuent countries,
congenital anomalies of the cornea form a small but signicant
proportion of the blinding conditions in childhood.
The normal cornea is avascular and transparent, and the
cause of any opacity, which may interfere with vision, must
be diagnosed, and if possible, treated, at the earliest possible
opportunity, to avoid irreversible damage and visual loss, or
the development of amblyopia.
Fig. 27.19: Enlarged, hazy cornea due to congenital glaucoma Fig. 27.20: Limbal lipodermoid
Chemical Injuries vision. Smaller ones may result in astigmatism (as may
surgical excision), which, uncorrected can cause amblyopia
Chemical injuries constitute an emergency where time is of
(Fig. 27.20).
essence. Immediate, copious irrigation of the injured eye,
including the upper conjunctival fornix (the area under the Anterior Segment Dysgenesis
upper eyelid) with buffered saline or Ringers lactate where
possible, but with clean water if that is all that is available, Anterior segment dysgenesis includes a spectrum of
can save an eye and its sight, which may otherwise be lost. developmental genetic anomalies of peripheral and central
Acids cause coagulation of surface proteins on the cornea anterior segment structures, the more severe of which
with rapid scarring, whereas alkalis penetrate rapidly into include corneal scarring. The peripheral developmental
the eye causing widespread destruction of intraocular tissues anomalies include posterior embryotoxon, and Axenfeld-
as well as of the ocular surface. Prompt and prolonged Rieger syndrome. The central developmental anomalies
irrigation of the eye dilutes and removes such chemicals include posterior corneal depression and Peters anomaly.
from the ocular surface, thereby preventing or minimising In Peters anomaly, there is a posterior corneal defect with a
these types of destruction. central stromal opacity, with iris strands often adherent to its
posterior surface. The opacity may lessen with time.
Congenital Glaucoma
Sclerocornea
Congenital glaucoma can present with cloudy or opaque
corneas, which are usually also enlarged. The raised intra- Sclerocornea is a congenital condition in which, as its name
ocular pressure initially causes enlargement of the globe, suggests, the cornea is opaque and appears undifferentiated
which, in infants, is relatively elastic. Without treatment, from the sclera. Flattening of the cornea may also occur. The
however, the disease progresses causing atrophy of the condition is often associated with other ocular or systemic
optic nerve, and irreversible visual loss. This condition abnormalities.
must always be considered, therefore, in the presence of
hazy or opaque corneas, in order that early treatment can be Mucopolysaccharidosis
instituted, and blindness prevented (Fig. 27.19). Mucopolysaccharidoses and mucolipidoses constitute a varied
group of conditions with lysosomal disorders, resulting in a
Dermoids on the Cornea range of mucopolysaccharides or mucolipids not being broken
Dermoids on the cornea, usually extending from across the rim, down and therefore accumulating in the tissues. Some of these
or limbus of the cornea (most commonly inferotemporally), conditions manifest ocular abnormalities. In Hurlers syndrome
consist of hamartomatous brofatty tissue and keratinised (mucopolysaccharidosis IH) and in Scheies syndrome
epithelium. They sometimes contain skin appendages such as (mucopolysaccharidosis IS), corneal clouding occurs within
hair follicles, sebaceous glands and sweat glands, and may be the rst 6 months to 2 years of life. In mucolipidosis IV,
up to a centimetre in diameter. They may involve the corneal corneal clouding may occur in the rst few weeks of life. In
stroma, but not usually the whole thickness of the cornea. these conditions, electron microscopy on conjunctival biopsies
Large dermoids may cover the visual axis, thereby occluding reveals abnormal cytoplasmic inclusions.
584 Hutchison's Paediatrics
Congenital Hereditary Endothelial Dystrophy be diagnosed in children, and may result in impairments
such as lagophthalmos and impaired corneal sensation.
Congenital Hereditary Endothelial Dystrophy (CHED) mani-
Neurotrophic keratitis, and exposure keratitis may both
fests in the early days of life. It is a defect of the endothelial
result in corneal opacity, and secondary infective keratitis
layer of the cornea and of the adjacent Descemets layer,
can cause more severe corneal damage or corneal perforation
resulting in diffuse oedema of the epithelial and stromal layers
and endophthalmitis. Corneal lepromas (granulomatous
of the cornea. The cornea is, therefore, thickened and hazy,
lesions which develop as a response to the presence of
and must be differentiated from congenital glaucoma, where
Mycobacterium leprae) are now rare, but chronic iritis my
the corneal diameter is usually increased and the intraocular
result in band keratopathya condition that occurs in eyes
pressure is elevated. CHED is a rare inherited condition,
with chronic inammation, in which calcic material is
which may be autosomal dominant or autosomal recessive.
deposited in a band-shaped area across the cornea.
Treatment of Corneal Opacities in Childhood
Mucopolysaccharidoses
Treatment of corneal injuries, infections and damage due to
vitamin A deciency must be prompt and adequate in order All of the mucopolysaccharidoses cause varying degrees of
to preserve, or restore sight. In many situations, there may corneal haziness due to deposits in the cornea, except for
be astigmatism or corneal scarring despite repair, resolution Hunters syndrome (mucopolysaccharidosis II) (see previous
of infection, or restoration of adequate levels of vitamin A in section).
the body. Refractive correction of astigmatism can then be
undertaken, or corneal grafting if appropriate. Hepatolenticular Degeneration
Corneal grafting requires special care and expertise in (Wilsons Disease)
children, and the nal visual outcome maybe poorer than one Wilsons disease is an inborn error of metabolism in which
would hope. Furthermore, since deprivation amblyopia has excess copper deposition occurs in the liver, kidney, and basal
been found to be best reversed by treatment of the underlying ganglia of the brain. Inheritance is autosomal recessive, and
cause within the rst 3 months of life, the surgery, and the clinical features include cirrhosis of the liver, renal tubular
anaesthesia required, may be more complex than if performed damage, and a type of parkinsonism. A copper coloured ring
later. Some studies have shown less corneal rejection and (the Kayser-Fleischer ring) in Descemets layer of the cornea
a better nal visual outcome if surgery is delayed until is a diagnostic feature of established disease, but may not be
approximately one year after birth. present in the early stages. Copper deposits are rst seen in
Where treatment of corneal opacities is not possible, the 12 and 6 oclock positions, and then form a complete
support of the child and the family is essential, with ring.
appropriate advice and information given, and all possible
rehabilitation measures put in place to enable the child to live Cystinosis
as full a life as possible, and to avoid the additional risks and
Cystinosis is a rare, metabolic disease in which intracellular
possible harm associated with poor sight.
cystine levels are elevated, resulting in the deposition of
cystine crystals in various parts of the body. In infants,
SYSTEMIC DISEASES WITH CORNEAL
failure to thrive, rickets and progressive renal failure occur,
MANIFESTATIONS IN CHILDHOOD and are known as Fanconis syndrome. Ocular features
develop in the rst year of life, and include the deposition of
Congenital Syphilis crystals in the peripheral cornea and throughout Descemets
Interstitial keratitis secondary to congenital syphilis may layer, as well as on the anterior iris surface and in the
present during the rst 10 years of life, with corneal oedema conjunctiva. Photophobia occurs. Oral cysteamine reduces
and aggressive vascularisation of the deep stromal layer of the systemic crystal deposition and is more effective than topical
cornea, giving it a pink appearance (salmon patch). Blood cysteamine, which is also difcult to obtain (Fig. 27.21).
ow through these vessels gradually stops over a period
of weeks to months, leaving greyish white ghost vessels Familial Dysautonomia (Riley-Day Syndrome)
visible deep in the stroma, which are evident throughout life. This is an autosomal recessive condition seen largely in
Ashkenazi Jews. There is autonomic dysfunction with
Leprosy
relative insensitivity to pain and temperature instability.
Although the prevalence of leprosy has diminished Abnormal lacrimation and decreased corneal sensation
dramatically over the past 15 years, new cases continue to result in exposure keratitis and frequent corneal ulceration
Paediatric Ophthalmology 585
Fig. 27.21: Deposition of cystine crystals in the cornea in cystinosis Fig. 27.22: Lamellar cataract
Posterior Cataract
Posterior lenticonus is almost always unilateral and can
cause myopia and astigmatism. Therefore, it is important to
monitor vision and prescribe appropriate optical correction
to prevent amblyopia.
Persistent hyperplastic primary vitreous (PHPV) is caused
by failure of regression of the primitive hyaloid vascular
system. PHPV occurs sporadically, is almost always unilateral
and is associated with microphthalmia. Clinically there is a
retrolenticular brovascular membrane, which extends to the
optic disc as a stalk. The membrane may contract, push the
lens-iris diaphragm anteriorly and cause glaucoma.
Posterior subcapsular cataracts in children are often stellate,
or rosette-shaped, and secondary to trauma or steroid-induced.
They affect vision signicantly and require surgery, for which
the visual prognosis is excellent (Figs 27.23 and 27.24).
Fig. 27.23: Stellate cataract
Evaluation of Cataract
Examination in a darkened room is performed by shining
the light of a direct ophthalmoscope into both eyes
simultaneously, in order to detect normal, symmetrical red
reexes. This test is called Bruckners test. Any central
opacity or surrounding cortical distortion more than 3 mm
is considered to have a signicant effect on vision. Taking
a family history is important in order to elicit whether there
is an autosomal dominant or X-linked pattern of inherited
cataract. General physical examination in addition to
examination of the anterior and posterior segments of the eye
is required. Unilateral cataracts are generally not metabolic
or genetic in origin, and therefore laboratory tests are not
helpful, except a TORCHES titre (see intrauterine infectious
disease). Laboratory tests, however, can provide valuable
information in bilateral cataracts, particularly is Lowes
syndrome and galactosaemia. Recommended tests include a
urine test for reducing substances after milk feeding, TORCH Fig. 27.24: Steroid-induced cataract
titre and VDRL test. Other optional tests include a urine test Optical rehabilitation is important to avoid amblyopia. If an
for amino acids, and blood tests for calcium, phosphorus and IOL is not inserted at surgery, aphakic spectacles or contact
red-cell galactokinase level. lenses are required. Aphakic spectacles are the safest and can
be easily changed according to the refractive requirement.
Surgery Contact lenses provide more constant refractive correction
The principal surgical options are removal of lens matter but are less easily changed, may be displaced by eye rubbing,
through an anterior capsulorhexis (i.e. a hole made in the and can pose a risk of infection and corneal ulcer. If an
anterior capsule), or lensectomy with a posterior approach. intraocular lens is inserted, it is important to ensure that it is
Intraocular lens implantation (IOL) at the same time in placed within the lens capsule (in the bag). Children often
infants remains controversial. Intraocular lens implantation require spectacle correction, especially for reading in spite
is recommended in children above age 2 years. Because rapid of the intraocular lens. All children need long-term follow-
posterior capsule opacication occurs, a controlled moderate up for changes in refractive status, amblyopia management,
posterior capsulotomy and anterior vitrectomy should be intraocular pressure monitoring and posterior segment
performed at the time of surgery. This allows establishment evaluation.
of a clear visual axis, facilitating accurate retinoscopy and A good visual outcome depends on the timing of surgery,
subsequent tting of an appropriate optical correction. appropriate optical correction and adequate treatment of
Paediatric Ophthalmology 587
PAEDIATRIC GLAUCOMA
Childhood glaucomas may be classied into two groups:
1. Primary congenital glaucoma
2. Secondary congenital glaucoma
Surgical Therapy
Goniotomy
Trabeculotomy
Trabeculectomy
Glaucoma implants
Cycloablation.
All cases of childhood glaucoma require careful, long-
term follow-up. Visual loss is not only due to corneal scarring
and optic nerve damage, but may also be due to signicant
astigmatism and amblyopia. Glaucoma that presents at birth
has a poor visual prognosis. Presentation at 312 months age
is associated with a better visual prognosis.
UVEITIS IN CHILDREN
Introduction
Fig. 27.27: Homocystinuria: Lens subluxed downwards Uveitis is an inammatory response to a physical or
biological insult, involving part of, or the whole uveal tract.
Polymorphonuclear leucocytes and monocytes accumulate in
Diagnosis
the uvea and stimulate the release of chemical mediators.
A detailed ocular examination under anaesthesia should be These may remove the offending stimulant as well as creating
done. The following tests are required. further inammation. Approximately 50% of children
Measurement of corneal diameter presenting with anterior uveitis manifest no obvious cause of
Intraocular pressure recording the condition. The commonest identiable cause, however,
Gonioscopy of anterior uveitis in the paediatric age group, is juvenile
Ophthalmoscopy. rheumatoid arthritis, particularly the pauciarticular type.
Uveitis in children accounts for 28% of uveitis occurring
Differential Diagnosis at all ages. It presents particular challenges to the clinician:
Megalo-cornea Late presentation is common, because children may not
Nasolacrimal duct obstruction be able to express their symptoms
Keratitis Potential side effects and poor compliance may limit the
Trauma effectiveness of treatment
Metabolic disorders. Steroid-induced glaucoma, secondary cataract and band
keratopathy have a higher incidence rate in children than
Secondary Congenital Glaucoma in adults.
Ophthalmologist and paediatrician must be aware of
Causes of Uveitis in Children
associated systemic and ocular anomalies in an infant with
glaucoma. Example of associated systemic abnormalities The majority of uveitis cases in children are bilateral, non-
includes: granulomatous and anterior. Intermediate and pan-uveitis are
Sturge-Weber syndrome seen less commonly, and posterior uveitis, least of all.
Neurobromatosis Causes of each type of uveitis are listed in Box 27.7.
Oculocerebrorenal syndrome (Lowes syndrome)
Congenital rubella. Clinical Features
The symptoms of acute anterior uveitis include pain, redness
Treatment of the eye and photophobia. There may be watering of the
eye. In chronic uveitis, which may be anterior, intermediate
Medical Therapeutic Agents
or posterior. There is often little in the way of pain or
Carbonic anhydrase inhibitors redness, but vision may be blurred, or there may be an
Topical beta-blockers awareness of oaters in the eye. On examination, in acute
Prostaglandin derivatives. anterior uveitis the redness is found to be maximal around
Paediatric Ophthalmology 589
Fig. 27.28: Acute anterior uveitis with posterior synechiae Fig. 27.29: Mutton fat keratic precipitates
the limbus of the cornea. Keratic precipitates (KP), which synechiae refer to adhesions of the peripheral iris to the
may be large and clumped together (mutton fat KP), or ne corneal endothelial surface, which may occur in conditions
and diffuse, are usually present on the corneal endothelium, with severe inammation or in prolonged shallowing of the
and cells (inammatory cells), and are (protein exudate) anterior chamber).
are seen on slit lamp examination of the aqueous uid, and/ In intermediate uveitis, creamy, inammatory exudates
or the vitreous (when the posterior segment of the eye is are evident in the pars plana of the ciliary body, at the
involved). In acute anterior uveitis, the pupil may be miosed anterior periphery of the retina, and in posterior uveitis,
(constricted), or irregular, due to adhesions of the iris to the similar lesions may be present elsewhere on the retina, or in
anterior lens surface, known as posterior synechiae (Anterior the vitreous (Figs 27.28 and 27.29).
590 Hutchison's Paediatrics
to obstruction to aqueous outow by the microlaria. dominant. The predisposing gene (RPE1) is at 13q14.
Since the ocular changes due to onchocerciasis are by and Sporadic cases constitute about 94% of all patients with
large irreversible, early treatment of the disease is required retinoblastoma.
to prevent these changes and the resulting sight impairment
or blindness. Ivermectin is now the treatment of choice for Clinical Presentation
Onchocerciasis. The possibility of retinoblastoma should be considered with
Loaiasis, which is caused by the Loa loa larial worm, any lesion in the posterior segment of a child less than 5
occurs in West and Central Africa. years of age. Presenting features include:
The worm has a similar life cycle to Onchocerca Leukocoria (a white pupil reex)most common (Box
volvulus, and often causes inammation involving the 27.8; Fig. 27.31)
eye, although not usually uveitis. Loa loa worms are
often seen under the conjunctiva, and may be removed Box 27.8: Differential diagnosis of a white pupil
with forceps after instilling local anaesthetic and incising Retinoblastoma
the conjunctiva at the appropriate site. An acute localised Cataract
Retinal detachment
inammatory response to the worms is recognised, and
Severe posterior uveitis
has been called Calabar swelling. This commonly occurs Retinopathy of prematurity
in the orbit or eyelids, with a dramatic presentation, but Persistent hyperplastic primary vitreous
with resolution to normal in a few days. Treatment is with Retinal dysplasia (Norries disease)
Coats disease
diethylcarbamazine.
RETINOBLASTOMA
Retinoblastoma is the most common primary, malignant
intraocular tumour of childhood. If left untreated it is lethal.
The long-term survival rate for retinoblastoma is over
90% in the developed world. The prognosis in developing
countries continues to be poor because of late diagnosis and
intervention (Fig. 27.30).
Epidemiology
Retinoblastoma occurs equally in males and females. There
is no racial predilection.
6070% of tumours are unilateral and the mean age at
diagnosis is 24 months. 3040% are bilateral, with a mean
age at diagnosis of 14 months. Only 6% of patients have a
family history of retinoblastoma. Inheritance is autosomal Fig. 27.31: Leukocoria and hypopyon due to retinoblastoma
592 Hutchison's Paediatrics
Diagnosis
Indirect ophthalmoscopy with scleral indentation must be
done on both eyes after full mydriasis. Appearances depend
on the size of the tumour and on its pattern of growth. Fig. 27.33: Exophytic retinoblastoma with surrounding chorioretinal
Multiple tumours may be present in the same eye. atrophy
CT scan: Detects calcication, gross involvement of the
Clinical Findings optic nerve, extension to the orbit or central nervous system
An intraretinal tumour is a at or round grey to white and the presence or absence of pinealoblastoma.
lesion, fed and drained by dilated tortuous retinal vessels. MRI: Provides the optimum means of evaluation of the optic
An endophytic tumour projects from the retinal surface nerve and of the detection of pinealoblastoma.
as a white, friable mass and may have vitreous seeding.
Differential diagnosis: This includes persistent hyperplastic
An exophytic tumour grows into a cauliower-like white
primary vitreous, toxocara granuloma, Coats disease,
mass, often associated with a retinal detachment and
retinopathy of prematurity, retinal dysplasia.
vitreous haemorrhage.
As the tumour expands, it undergoes necrosis with areas Natural history: As the tumour grows, the globe is gradually
of calcication (Figs 27.32 and 27.33). lled with tumour, which then expands further and involves
the periocular tissues. It then extends intracranially. Blood-
Special Investigations borne metastases to distant sites can occur.
Ultrasonography: Detects calcication and enables measure- Histologic Features
ment of the tumour dimensions.
Retinoblastoma consists of cells with round, oval or spindle-
shaped nuclei, which are hyperchromatic and surrounded by
scanty cytoplasm.
Flexner-Wintersteiner rosettes: These are a characteristic
feature of retinoblastoma. A single layer of columnar cells
surrounds a central lumen lined by a retractile structure,
corresponding to the external limiting membrane of the
retina.
Homer-Wright rosettes: These do not show features of retinal
differentiation and are found in other neuroblastic tumours
also.
Fleurettes: Are curvilinear clusters of cells composed of
rod and cone inner segments that are frequently attached to
abortive outer segments.
Trilateral retinoblastoma: This term refers to bilateral
retinoblastoma with ectopic intracranial retinoblastoma,
usually located in the pineal gland or the parasellar region.
Treatment: Management of retinoblastoma is highly
Fig. 27.32: Early retinoblastoma individualised and is based on age at presentation, laterality,
Paediatric Ophthalmology 593
tumour location, tumour staging, visual prognosis, systemic Stage 2: The presence of a demarcation line that has height,
involvement and cost-effectiveness. Decisions regarding width, and volume (ridge).
treatment should be made after detailed discussion with Stage 3: A ridge with extraretinal brovascular proliferation.
the childs family, who should be involved at all stages of Stage 4: Subtotal retinal detachment, e.g. (A) extrafoveal
management. (B) retinal detachment including the fovea.
1. Focal therapy: Laser photocoagulation, transpupillary Stage 5: Total retinal detachment.
thermotherapy (TTT), cryotherapy, plaque brachytherapy. Ophthalmic evaluation of the premature infant may be
2. Local therapy: External beam radiotherapy (EBRT), performed in the nursery or in the ofce. Examination of
enucleation. the anterior segment is performed with a hand light, with
3. Chemotherapy: It reduces tumour size and makes it more specic attention to the iris vessels, lens and tunica vasculosa
amenable to laser, cryotherapy, TTT or radiotherapy. lentis. Ophthalmoscopy is performed with an indirect
Chemotherapy followed by focal treatment is the primary ophthalmoscope and a 28D or 30D condensing lens with
treatment of choice for intraocular retinoblastoma. scleral indentation when indicated.
4. Primary enucleation: It is still indicated for advanced Screening for ROP should be performed in all infants
intraocular retinoblastoma, especially in unilateral cases. with a birth weight with less than 1500 g or a gestational
On histopathological examination, inltration of the uvea, age of 28 weeks or less, as well as infants weighing between
sclera and optic nerve beyond the lamina cribrosa imply a 1500 g and 2000 g with an unstable clinical course and who
high risk of metastasis. Such patients need chemotherapy are believed to be at high risk (Figs 27.34 and 27.35).
or radiotherapy. Various combinations of chemotherapeutic
drugs are used, the most frequently used agents being Differential Diagnosis
vincristine, etoposide and carboplatin.
Retinoblastoma, familial exudative vitreoretinopathy, Norries
Genetic counselling is an important part of the
disease, X-linked retinoschisis, incontinentia pigmenti.
management of retinoblastoma.
Follow-up: Children with unilateral disease should be Treatment
followed up at least until 5 years of age. Those with familial The ultimate goals of treatment of threshold ROP (stage 3
or genetically transmitted disease should undergo life-long ROP, zone I or zone II, with at least 5 continuous or 8 total
follow-up. clock hours of disease) are prevention of retinal detachment
or of scarring, and optimisation of visual outcome.
RETINOPATHY OF PREMATURITY
Retinopathy of prematurity is a proliferative retinopathy Treatment Options
affecting premature infants of low-birth weight and young Cryotherapy
gestational age. Despite improvements in detection and Laser photocoagulation
treatment, ROP remains a leading cause of lifelong visual Surgery.
impairment among premature children. Threshold or pre-threshold ROP can be treated with laser
The International Classication of Retinopathy of therapy or retinal cryoablation. Laser therapy is preferred
Prematurity (ICROP) provides standards for the clinical over retinal cryoablation. The treatment is applied in full
assessment of ROP on the basis of severity (stage) and scatter fashion to the avascular anterior retina with the
anatomical location (zone) of disease. indirect ophthalmoscope. Laser therapy is believed to be less
traumatic systemically than cryoablation; it also appears to
Location yield a better visual outcome.
Surgery may be undertaken for patients with Stage
Zone I: Posterior retina within a 60 circle centered on the
4 and Stage 5 ROP. The modalities commonly used are
optic nerve.
scleral buckling and vitrectomy, which relieve the tractional
Zone II: From the posterior circle (Zone I) to the nasal ora
components of the retinal detachment.
serrata anteriorly.
Certain problems are more likely to occur in eyes
Zone III: The remaining temporal peripheral retina.
with regressed ROP, including myopia with astigmatism,
Extent: Number of clock hours involved. anisometropia, strabismus, amblyopia, cataract, glaucoma
and retinal detachment.
Severity
It is important to remember that the sequelae of advanced
Stage 1: A demarcation line between vascularised and non- ROP can cause problems throughout the patients life, and
vascularised retina. long-term follow up is warranted.
594 Hutchison's Paediatrics
PREVENTIVE OPHTHALMOLOGY
Childhood Blindness
The WHO denition of blindness is a best-corrected visual
acuity of less than 3/60 in the better eye or a eld of vision
less than 10 degrees. Visual impairment is graded according
to intermediate levels of visual acuity less than 6/18. It is
estimated that there are about 5 million visually impaired
children in the world. Of these, approximately 1.5 million
TRAUMATIC RETINOPATHY
Retinal haemorrhages concentrated at the macula, or
spread extensively over the whole retina, sometimes with
the presence of Roths spots (circular haemorrhages with
white centres) can be caused in the rst two years of life
by head injury, for example following road trafc accident.
However, such retinal haemorrhages are characteristically
seen, sometimes accompanied by subdural haematoma and
bruising or injuries elsewhere, in what has been termed the
shaken baby syndrome. This terminology is best reserved for
instances where the aetiology of the injuries has been proved Fig. 27.37: Posterior pole in traumatic retinopathy
Paediatric Ophthalmology 595
THE CHILD WITH VISUAL IMPAIRMENT Explaining Poor Vision to Parents and Carers
Vision is required to: The diagnosis of visual impairment in a child is distressing.
Access information in the distance. (It is largely through The information is conveyed with care and sensitivity,
vision that we learn about the environment). making and giving the requisite time.
Access to near information. (For example, playing with Not only do parents and carers need to understand the
toys and looking at and reading books). childs diagnosis and treatment, but if vision is impaired a
Interacting socially. (Recognising people and their facial detailed analysis of how this can adversely impact on day
expressions and gestures). to day life is required, followed by a structured programme
Guiding movement of the upper limbs. (Picking anything for each child, aimed at ensuring that development is not
up is usually by means of vision in the sighted person). impaired and education is optimised. This may require
Guiding movement of the body. (Walking over steps magnifying aids and the provision of educational material,
or in a crowd is mediated through vision to give visual which is designed either for visual impairment or blindness
guidance). as appropriate for each child (Fig. 27.38).
In children, vision is required to learn these attributes.
Visual impairment can restrict such learning because it BIBLIOGRAPHY
imposes limitations on performance.
1. Basic and Clinical Science Course, American Academy of
It is, therefore, essential to measure all aspects of vision Ophthalmology, 2004-2005.
and to understand how each childs visual impairment is 2. David Taylor, Paediatric Ophthalmology, 2nd Edition, 1997.
impacting upon their development. This knowledge is then Blackwell Science Ltd.
employed to implement appropriate strategies to minimise 3. Honover SG, Singh AD. Management of Advanced
the adverse impact of poor vision. Retinoblastoma, Ophthalmol Clin N.
Poor acuity may not impede mobility but can profoundly 4. John Sandford-Smith. Eye Diseases in Hot Climates, J W
affect learning if educational material is not enlarged, and Arrowsmith Ltd, Bristol, 1986.
5. Kenneth W Wright. Paediatric Ophthalmology and Stra-
can limit social interaction, if friends and relatives are not
bismus, Mosby-Year Book, Inc.1995.
aware of this. 6. Myron Yanoff, Jay S. Duker. Ophthalmology 2nd Edition
Visual eld impairment may not signicantly impair 1997, Vol. 2, Mosby, Inc.
access to information and social interaction but can 7. Principles and Practice of Ophthalmology, 2nd Ed, 2000,
signicantly impair mobility. Jakobeic: Philadelphia, WB Saunders; 2000.
Christina Halsey, Elizabeth A Chalmers
C H A P T E R
Haematological
Investigations in Children 28
The haematology laboratory is able to perform a number of can be both counted and sized. The second method relies on
tests to help establish the cause of illness in children. The characteristic patterns of light scatter and absorbance as cells
full blood count (FBC, also known as a complete blood pass through a laser beam; this is particularly useful for the
countCBC) is one of the most basic blood tests performed recognition and counting of the different types of white blood
on children attending hospital, or a primary care clinic. All cell (to produce a white cell differential count). In addition,
doctors should, therefore, have an understanding of how counters estimate haemoglobin by lysing the red blood cells
the test is performed, possible pitfalls, be able to interpret and measuring the optical density of the resulting solution
results, and know when more specialised testing or advice at an appropriate wavelength. A typical readout from an
is required. Other haematological investigations in routine automated counter is shown in Figure 28.1.
use include coagulation screens, blood film examination,
reticulocyte counts and methods for estimation of iron stores, Key Learning Points
and detection of abnormal haemoglobins. This section will Automated blood counters identify cells on the basis of size
focus on these basic tests and simple algorithms for the and laser light scatter patterns. Haemoglobin concentration is
subsequent investigation, and differential diagnosis of the measured by lysis of red blood cells and measuring the optical
commonest haematological abnormalities encountered in density of the resulting coloured solution
general paediatric practice. The reader is referred to Chapter Because automated machines rely on size as one way to
15 for an account of the clinical presentation and management classify cells, it is possible to get artefactual results in some
of primary haematological disorders in children. situations. For example, nucleated red blood cells are often
counted as white cells, and fragmented red cells are counted
FULL BLOOD COUNT as platelets. Any unusual count should be checked manually
with a blood film.
The FBC is a numerical estimate of the number of red cells,
platelets and white cells in a given sample of blood along
with measurement of the haemoglobin concentration, and
various red cell indices some of which are directly measured RED CELL INDICES
and others derived. Blood is collected into an anticoagulant
In addition to the red cell count and haemoglobin concentration,
solution (usually EDTA), and transported to the laboratory.
it is clinically useful to know the size of red cells (mean cell
Although counting of each component can be done manually,
volume, MCV); the amount of haemoglobin per cell (mean
it is now routine using automated counters in almost all
cell haemoglobin, MCH), and a measure of the variation in
haematology laboratories. These counters recognise cells
size of individual red cells (red cell distribution width, RDW).
on the basis of size and physical characteristics. There are
Collectively, these values are known as red cell indices. They
two main methods (often used in conjunction). Electrical
are particularly useful in the assessment of likely causes of
impedance measurement is based on the fact that blood cells
anaemia (see below).
are very poor conductors of electricity. Therefore, when
cells in a conducting medium are made to flow in single file
BLOOD FILM
through an aperture across which an electric current flows,
there is a measurable increase in electrical impedance which Examination of a stained blood film is an essential part of
is proportional to the volume of the cell. In this way, cells the assessment of most haematological disorders. Many
Haematological Investigations in Children 597
Fig. 28.1: A typical computer generated readout from an automated blood cell analyser (Sysmex XT2000i)
haematological diseases have characteristic changes. In a percentage of the total red cells, or an absolute count.
some cases, it is possible to diagnose a disorder purely Reticulocyte numbers are very useful in the evaluation of
from the blood film (e.g. hereditary elliptocytosis); in most anaemia, as they allow a distinction to be made between
cases, other confirmatory tests are needed. The blood film inadequate marrow production of red cells (associated with a
may be very useful in identifying artefactual results, such low reticulocyte count) and excessive destruction or loss of
as thrombocytopenia caused by platelet clumping. Systemic red cells in the periphery (usually associated with increased
disease may also produce blood film changes, for example, reticulocyte release from the marrow).
sepsis may be accompanied by an increase in immature
neutrophils (left shift or band forms), toxic granulation, and NORMAL RANGES
formation of Dhle bodies (pale blue cytoplasmic inclusions)
The synthesis of blood cells and coagulation proteins go
within neutrophils. These latter changes are particularly
through various changes during development (discussed
useful in assessment of neonates. Figures 28.2A to G show
further in Chapter 15). This is particularly marked in the
some of the characteristic red cell changes seen on the blood
neonatal period and early infancy because of adaptive
film along with common causes for these appearances.
changes needed for the transition between the uterine
microenvironment and the outside world. Therefore, when
RETICULOCYTE COUNT
interpreting any haematological value, it is important to be
Reticulocytes are young red cells that have lost their aware of age appropriate normal ranges. Table 28.1 gives
nucleus, but still contain substantial amounts of ribosomal approximate values for the FBC from birth to adulthood.
RNA leading to their characteristic bluish purple colour on Normal ranges should ideally be determined using the local
standard haematoxylin and eosin (H&E) staining of blood population and the actual instruments in everyday use in the
films. They can be more easily identified using special stains, laboratory. In paediatrics, it is difficult to obtain sufficient
such as new methylene blue, and can be counted manually numbers of samples from healthy controls and therefore,
or on some automated counters. They can be expressed as estimates are usually made using published normal ranges.
598 Hutchison's Paediatrics
Finding Causes
Figs 28.2A to G: Red cell changes seen on blood films and their common causes; (A) Spherocytes; (B) Sickle cells; (C) Bite cells; (D) A pencil
cell; (E) Basophilic stippling; (F) Target cells; (G) Red cell fragments. Arrows point to the abnormal cell type
Haematological Investigations in Children 601
TESTS TO DIAGNOSE IRON DEFICIENCY of abnormal haemoglobins that contain amino acid changes
which alter charge (such as sickle cell HbS). The two
An inadequate iron supply will initially lead to depletion of iron main methods in use are haemoglobin electrophoresis and
stores followed by iron deficient erythropoiesis and finally, the high performance liquid chromatography (HPLC). Beta
development of anaemia (Fig. 28.3). Serum ferritin is the first thalassaemia major can be diagnosed by the complete
marker of depleted iron stores in the body. It is diagnostic if absence of haemoglobin A on haemoglobin electrophoresis,
low, but false negative results can be seen because ferritin is an provided the test is performed before transfusion of the
acute phase reactant and therefore, can be elevated with acute patient. Beta thalassaemia trait usually shows an elevated
inflammation or infection even in the presence of iron deficiency. HbA2 level above 3.5% (normal ranges will vary from lab to
As iron deficiency progresses, the transferrin (measured as total lab); care should be taken in the presence of iron deficiency
iron binding capacityTIBC) becomes elevated with reduced as this may reduce the HbA2 level back into the normal
serum iron. The ratio of these two results can be expressed rangeresults should be repeated after iron replacement in
as the transferrin saturation. Immediate precursors of haem any iron deficient individual. Alpha thalassaemia major is
accumulate zinc (free erythrocyte) protoporphyrin). Finally, a usually diagnosed antenatally, or at the time of birth of a
hypochromic microcytic anaemia develops. Other tests include severely hydropic infant since all the normal haemoglobins
measurement of soluble transferrin receptors (increased in iron present at birth contain a-chains. Three a gene deletions,
deficiency). The gold standard test remains Perls staining of so called HbH disease can be diagnosed by electrophoretic
a particulate bone marrow biopsy specimen for iron but this is detection of Haemoglobin H (b4 tetramers), or by staining
rarely necessary. a blood film with brilliant cresyl bluethe b4 tetramers in
the red cells are stained dark blue, and produce a golf-ball
TESTS TO DIAGNOSE THALASSAEMIA like appearance. The diagnosis of alpha thalassaemia trait
(one or two gene deletions) is suspected by the presence
In order to understand tests for thalassaemia properly, it is of hypochromia and microcytosis in the absence of iron
necessary to be aware of the composition of haemoglobin and deficiency, and with a normal HbA2 measurement. As it
the developmental changes that occur in the use of various does not produce clinically significant disease, definitive
globin chains; these are discussed in Chapter 15. Diagnosis diagnostic investigations (genetic testing for individual
of thalassaemia is usually made by tests that separate the mutations) are usually reserved for antenatal patients
haemoglobin molecules on the basis of electrical charge; at significant risk of alpha thalassaemia major in their
this allows quantitation of the normal haemoglobins HbA offspring. Diagnostic investigations for thalassaemia are
(a2b2), HbA2 (a2d2) and HbF (a2g2), and also detection summarised in Table 28.3.
Table 28.2: Causes of anaemia classified on red cell indices Haemolytic anaemias are a large subgroup of normocytic
anaemias. The combination of jaundice (unconjugated
Hypochromic Normocytic Microcytic
hyperbilrubinaemia), reticulocytosis and anaemia suggests
Iron deficiency Haemorrhage (acute) Vitamin B12/Folate a haemolytic process. Further tests for haemolysis include
deficiency serum haptoglobin measurement (proteins present in normal
Thalassaemia Haemolysis-AIHA Reticulocytosis plasma which can bind free haemoglobin, and are then
Sideroblastic Haemoglobinopathy Myelodysplasia removed from the circulation by the reticuloendothelial
anaemia sickle cell disease system), urinary haemosiderin (an iron storage protein
Chronic Red cell membrane Hypothyroidism derived from the breakdown of free haemoglobin in the renal
disease defecthereditary, tubular system), and urobilinogen (a natural breakdown
spherocytosis product of bilirubin excreted in the urine). These are
Lead Red cell enzyme Drugs summarised in Table 28.4. A key test in establishing the
poisoning G6PD, pyruvate kinase cause of haemolysis is the direct Coombs test (DCT), also
Marrow infiltration Liver disease called the direct antiglobulin test (DAT). This tests detects
malignancy, aplastic
anaemia, Scurvy
the presence of antibody bound to the red cell surface by
Transient the use of reagents containing anti-IgG, and anti-complement
Erythroblastopenia of that cause agglutination of cells, as shown in Figure 28.5. A
childhood positive DCT indicates a likely immune cause for the anaemia.
Bone marrow failure
syndromes
If the DCT is negative, then tests for red cell enzyme defects
anaemia of chronic (G6PD and pyruvate kinase assays), haemoglobinopathies
disease (haemoglobin electrophoresis and sickle solubility test), and
membrane disorders (demonstration of increased osmotic
fragility of cells, protein analysis by SDS-Polyacrylamide
MACROCYTIC ANAEMIA gel electrophoresis, or more recent EMA dye binding tests)
may need to be performed.
The cause of a macrocytic anaemia in children is often obvious
If the reticulocyte count is normal or low, it is likely that
from the history. History of concurrent or past illnesses,
the anaemia is due to a problem with red cell production
symptoms and signs of malabsorption, and a detailed drug
in the marrow. A bone marrow aspirate and trephine (see
history are important. B12 and folate, liver function tests, a
section on white cell disorders below) may be needed to
reticulocyte count and thyroid function should be measured
help establish the cause. Lack of red cell precursors in the
in unexplained cases. Causes are listed in Table 28.2.
marrow can be seen as an isolated phenomenon in transient
erythroblastopenia of childhood (TEC), acute parvovirus
NORMOCYTIC ANAEMIA
B19 infection, or inherited red cell aplasia (Diamond-
As mentioned above, a reticulocyte count is particularly Blackfan anaemia). If part of a pancytopenia, then aplastic
useful in distinguishing reduced marrow production from anaemia or hypoplastic myelodysplastic syndrome may be
increased destruction of red cells. The blood film can also the cause. Occasionally, acute leukaemias can present with
give clues as to the most likely cause and best initial tests. A an aplastic phase followed several weeks to months later by
simple algorithm is given in Figure 28.4. the development of ALL.
Table 28.3: Investigation results in thalassaemia
Diagnosis Genetic defect Blood film Haemoglobin electrophoresis
Beta thalassaemia major 2 b gene mutations Severe hypochromic microcytic Absent HbA (pretransfusion), high HbF
anaemia, nucleated red cells, target cells
Beta thalassaemia trait 1 b gene mutation Basophilic stippling, hypochromia Raised HbA2>3.5%
and microcytosis but normal or borderline low
haemoglobin
Alpha thalassaemia major 4 a gene deletions Very severe anaemia, nucleated red cells Absent HbA, A2 and HbF
(incompatible with survival Presence of embryonic haemoglobin
beyond embryonic period) HbPortland and HbBarts and HbH
Haemoglobin H disease 3 a gene deletions Anaemia, target cells, teardrop HbH
cells and fragments
HbH bodies on special staining of film
Alpha thalassaemia trait 1 or 2 a gene Hypochromia, microcytosis 2-8% Hb Barts at birth (may be detected
deletions on neonatal screening programmes)
Haematological Investigations in Children 603
Fig. 28.4: Investigation and causes of normocytic anaemias (DCT = Direct Coombs test; MDS = Myelodysplasia; CDA = Congenital dyseryth-
ropoietic anaemia; TEC = Transient erythroblastopenia of childhood)
604 Hutchison's Paediatrics
Table 28.4: Indicators of haemolysis red cell destruction puts the baby at risk of kernicterus caused
Due to increased red Raised serum unconjugated bilirubin
by high bilirubin levels. Hence, it is important to be aware of
cell destruction Raised urinary urobilinogen the possibility of haemolysis in all newborn babies.
Reduced plasma haptoglobins Anaemia presenting soon after birth, may also be due
Due to increased red Raised reticulocyte count to haemorrhage pre, during or post delivery. Feto-maternal
cell production haemorrhage can be diagnosed by performing a Kliehauer
Due to presence of Abnormal morphologyspherocytes, bite test on the motherthis test looks for the presence of fetal
damaged red cells cells, fragments Increased osmotic fragility
haemoglobin containing cells in the maternal circulation by
virtue of their ability to resist acid elution of haemoglobin.
INVESTIGATION OF ANAEMIA IN NEONATES In multiple pregnancies that share a placental circulation,
Anaemia is the commonest haematological abnormality twin-to-twin transfusion may also occur to produce one
seen in neonates. The spectrum and causes of disease are polycythaemic twin and one anaemic one. An algorithm for
somewhat different than in older children. There are key the diagnosis of neonatal anaemia is given in Figure 28.6.
differences in red cell physiology in neonates that contribute
Key Learning Point
to the different modes of presentation in this age group.
The causes and presentation of anaemia are different in
Although the haemoglobin tends to be high initially (due at
neonates due to differences in red cell physiology. It is
least in part to haemoconcentration and placental transfusion
important to diagnose haemolytic disorders early to reduce the
prior to cord clamping), erythropoiesis is then switched off at
risk of kernicterus.
the time of birth, and haemoglobin falls to a nadir of around
10 g/dl by the age of 8 weeks. This fall is exaggerated in
premature infantsso called anaemia of prematurity. In POLYCYTHAEMIA
addition, premature babies are particularly vulnerable to
iatrogenic anaemia; secondary to blood loss associated with High haemoglobins and haematocrits can be due to
frequent blood testing. The MCV is high in neonates, and increased numbers of red cells (true polycythaemia) or
differences in red cell membrane composition can make dehydration, leading to a decreased plasma volume (relative
some haemolytic red cell disorders, such as hereditary polycythaemia). In children, true polycythaemia is usually
pyropoikilocytosis and hereditary spherocytosisworse in due to a secondary cause, such as hypoxia from cyanotic
the neonatal period. In contrast, the enzymopathy glucose- congenital heart disease leading to increased erythropoietin
6-phosphate dehydrogenase deficiency (G6PD) is not usually production. Occasionally, kidney tumours can secrete
associated with significant haemolysis in the newborn period erythropoietin. Primary erythrocytosis (a myeloproliferative
(unless the baby is exposed to oxidant stress), but may present disease relatively common in adults) is extremely rare in
with severe jaundice which is thought to be hepatic in origin. children. Neonates have higher incidences of polycythaemia,
Haemolysis may also be antibody mediated due to Rhesus or usually secondary to placental insufficiency or delayed
ABO incompatibility between mother and infant. Increased clamping of the cord. The blood viscosity increases
exponentially with haematocrits above 0.65, therefore, these
infants are often treated with exchange transfusionthe
evidence for benefit from this is lacking.
blood cells (pancytopenia). Alternatively, neutropenia can and open chromatin (see Chapter 15, Figs 15.15 and 15.16).
result from peripheral destruction of neutrophils by anti Myeloid blast cells may have rod-like inclusions in their
bodies or their redistribution to the tissues or sites of injury. cytoplasm called Auer rods.
Normal ranges for neutrophils vary between ethnic groups, The definitive diagnosis of leukaemia usually requires
and are particularly low in black Africans. This is thought bone marrow examination; this allows detailed study
to represent a different distribution of neutrophils between of the appearance of the cells (morphology) as well as
the tissues and the circulation, rather than an overall lower analysis of various specific proteins expressed by the cells
total body count. Neutrophil numbers circulating in the (immunophenotyping), and genetic abnormalities (molecular
bloodstream rise after exercise, and as a stress response. genetics and cytogenetics) which help classify the leukaemia
Lymphopenia can follow acute infections, or periods further and guide treatment.
of immunosuppression. Lymphocyte counts are generally
higher in neonates. In neonates with lymphopenia and serious
BONE MARROW EXAMINATION
infections, the possibility of an inherited immunodeficiency
should be borne in mind. Bone marrow examination is performed for further
assessment of haematological disorders where production
High White Cell Counts (Leucocytosis) of cells from the bone marrow is thought to be abnormal.
A high neutrophil count often accompanies infection (neutro In children, it is often performed under general anaesthesia,
philia), and can be a useful marker of sepsis. Very high although, local anaesthetic can be used if appropriate. The
neutrophil counts, with evidence of immature precursors usual site for aspiration is the posterior iliac crest. A large
in the bloodstream, are sometimes called a leukaemoid bore needle is used to penetrate the bony cortex, and enter
reaction. This can be seen with overwhelming sepsis, the marrow cavity. Bone marrow is then aspirated and
marrow infiltration by a solid malignancy, a severe stress spread on glass slides, preferably immediately after. If a
response, such as status epilepticus or burns. Leukaemia good specimen is obtained, then a granular appearance
itself can present with high or low white cell numbers, and is should be seen (Fig. 28.7). Further samples can be taken
usually suspected by the combination of an abnormal blood in appropriate anticoagulant or medium for cytogenetics,
count (white cells high or low, usually with accompanying immunophenotyping, and molecular genetic tests. In many
anaemia and thrombocytopenia) with a blood film that shows cases, a bone marrow trephine can also be takenthis
a population of immature precursors (blast cells). Blast cells involves introducing a longer needle below the cortex, and
vary in appearance with the different subtypes of leukaemia, taking a core of tissue that can then be fixed and sectioned for
but are generally larger than normal cells with a large nuclei pathological examination.
Haematological Investigations in Children 607
Table 28.7: Bleeding disorders that may present with a normal Factor Assays
coagulation screen and platelet count
Clinical aspects of inherited coagulation disorders are discussed
Factor XIII deficiency in Chapter 15. Inherited factor deficiencies may initially be
Glanzmanns thrombaesthenia/other platelet function disorders suspected on the coagulation screen, and confirmed by direct
von Willebrands disease assay of the clotting factor. In the case of suspected von
Vascular disorders Willebrands disease, von Willebrand Factor (vWF) should be
measured both quantitatively (vWF antigen) and qualitatively
significantly prolonged values compared to older children. (a functional test, such as a ristocetin cofactor assay). This is
In addition, values vary considerably between different because low levels of vWF or normal levels of dysfunctional
automated analysers and may therefore, vary between vWF can cause the disease. vWF can also rise with stress and
hospitals; local normal ranges should always be used. therefore, repeated testing may be needed to exclude disease
Initial screening tests should comprise of: especially in young children who are difficult to venepuncture.
Prothrombin time (PT)this is a test of the overall
activity of the extrinsic pathway. It measures the activity Platelet Function Testing
of factors II, V, VII and X, and is also dependent on
adequate fibrinogen levels. Besides a platelet count and assessment of platelet morphology
Activated partial thromboplastin time (APTT)this is a by light microscopy, it is possible to assess platelet function
test for the overall activity of the intrinsic pathway and in a number of ways. Historically, a bleeding time has been
measures factors II, V, VIII, IX, X, XI and XII; it also used as a global test of platelet function but it is difficult
requires adequate fibrinogen levels. to standardize, and not very predictive of bleeding risk.
Thrombin time (TT)prolonged by quantitative and Currently, the three commonest techniques in use are platelet
qualitative disorders of fibrinogen, the presence of aggregation studies (looking at aggregation in response to
inhibitory factors, such as fibrin/FDPs, and the presence various stimulants, such as epinephrine), flow cytometry (to
of heparin. assess expression of glycoproteins on the platelet surface),
Fibrinogen level and use of a platelet function analyzer (PFA-100, an
Platelet count. automated machine that measures the ability of platelets to
Results of these tests along with clinical history can form a plug under shear stress).
guide subsequent investigation. Bleeding times are generally
unhelpful. A diagnostic algorithm is shown in Table 28.8. Heparin
The typical findings in disseminated intravascular The presence of contaminating heparin in a sample is often
coagulation are shown in Table 28.6; although coagulation initially suspected by the combination of a prolonged APTT
screening is useful in this disorder, the primary therapy with a significantly prolonged thrombin time (this test is
for DIC is treatment of the underlying cause. Replacement exquisitely sensitive to heparin). A number of methods exist to
of coagulation factors with fresh frozen plasma or try and confirm whether the abnormal result is due to heparin
cryoprecipitate should be guided by the patients clinical or not. These include a reptilase time (which measures the
condition and presence of other risk factors for bleeding same pathway as the TT, but is unaffected by heparin), or
rather than treating the abnormal clotting screen per se. methods to neutralize the heparin using protamine sulphate.
C H A P T E R
29
Biochemical and
Microbiological
Investigations in Paediatrics
demand 100% sensitivity, i.e. all cases will be diagnosed,
INTRODUCTION
allowing a few false positives through and using a more
Most laboratory work is undertaken in laboratories whose specific confirmatory assay, e.g. neonatal thyroid stimulating
principal workload is adult patients. There are specific issues, hormone (TSH) screening using a cut off 30 mU/L on day 6
which can arise when the unwary consider children as small will identify all congenital hypothyroid cases and a number
adults, e.g. inappropriate reference ranges and how the age whose thyroid axis matures over first few weeks. This is
of the child may change the nature of the sample submitted. necessary to avoid any missed cases.
This chapter aims to simply review key issues present in each Downs screening in pregnancy uses markers and
of the core laboratory disciplines. maternal age to identify women at high enough risk (1 in 220)
With the increasing range of laboratory tests, it is now to justify amniocentesis with its concomitant 1% pregnancy
estimated by the Royal College of Pathologists (UK) that loss. It fails to identify approximately a third of cases.
70% of all diagnoses depend upon laboratory results.
Before undertaking a clinical investigation, the clinician Diagnosis
must consider two questions:
While some tests can specifically identify the illness (e.g.
1. Will the chosen test confirm (or refute) a clinical
abnormal blood film in leukaemia), others may be less
suspicion, affecting alteration of management of the
specific, e.g. aspartate amino transferase (AST) commonly
patient to obtain a clinical benefit (or avoid a problem),
used as a marker of liver disease is raised in muscle disease
e.g. why identify hypercholesterolaemia in patients over
thus all 13 years old with a raised AST need a creatine
85? and
kinase (CK) done concomitantly to exclude Duchennes
2. If the natural evolution of the condition is trivial or self-
muscular dystrophy.
limiting, what additional information is obtained, e.g.
stool culture in acute diarrhoeal illness.
Prognosis
This concept is best summarised in the quote:
"Before ordering a test, decide what you will do if it is This allows estimates of the likely outcome. For example,
either positive or negative and if both answers are the same creatinine in renal impairment can act as a marker of degree
and then dont do the test!" of renal damage in an individual, or levels of a-fetoprotein
(AFP)/HCG are inversely proportional to outcome in non-
WHAT ARE THE ROLES OF DIAGNOSTIC TESTS? seminomatous testicular tumours.
There are only four specific reasons for doing a test.
These are as follows: Detection of Complications/Monitoring
With increasing laboratory use there is routine monitoring
Screening such as looking for side-effects from drugs. Identifying those
To take a population and pick out those with a disease with with marrow suppression on immunosuppressants, e.g.
few false positive diagnosis. In certain circumstances, we azathioprine.
612 Hutchison's Paediatrics
Fig. 29.1: Shows that precision is a measure of reproducibility with method 1 being more precise than method 2.
From the second figure, both methods A and B are equally precise but method A is more accurate
WHAT FACTORS ARE IMPORTANT IN measurements, such as iron and zinc fall rapidly as the body
INTERPRETING DATA? sequesters them to prevent them being available to bacteria.
Prolonged inflammatory responses result in altered endocrine
disturbances with, e.g. suppression of thyroid function (Sick
Quality of Information
Euthyroid syndrome).
The laboratorys role is to maximise accuracy and precision Before being able to interpret a result, we need to be able
of a result (Accuracy is an indication of how close to the to compare it to the normal homeostatic levels.
correct value; while precision is how reproducible a result
is). To achieve this, laboratories carefully control as many WHAT IS NORMAL?
factors as they can. They run quality controls, both internal
"Normal" is a term that is often used to include only "healthy"
(allowing regular precision) and intermittent external (to
individuals. The term "normal range" encompasses a range
confirm accuracy) (Fig. 29.1).
from two standard deviations more and less than the median
The expansion of external quality control into rarer
in a "healthy" population. This assumes the population data
analytes has allowed laboratories to improve, particularly,
is Gaussian distributed (or mathematically transformed
inborn errors of metabolism investigations.
into Gaussian distributed) and encompasses 95% of these
individuals.
Factors Occurring Before the Laboratory
Interpretation of laboratory data is then made against this
Samples must always be collected under appropriate healthy group of individuals. But they must be comparable
conditions. If the analyte is unstable, then appropriate if affected by sex, age, etc. But 2.5% lie above or below
preservative or rapid handling is required, e.g. fluoride that range and are still healthy. The further they lie from the
oxalate tubes for glucose. They must be properly identified mean the more likely they are to be ill.
especially with multiple births. The second problem is best illustrated by cholesterol (Fig.
More specific factors which can affect the result is to 29.2). The normal UK range is 3.56.7 mmol/L. However,
consider the biological diurnal variation in an analyte such the risk of coronary heart disease increases progressively
as cortisol being higher in morning and lower in evening above 5.2 mmol/L doubling by 6.7 mmol/L. However, below
or over longer periods, such as gonadotrophin changes post 5.2 mmol/L the curve is not flat and there remains a shallow
puberty over a month in a female. Without considering the gradient of risk. Thus the idea of "normal" range may be less
clinical features, interpretation is impossible. helpful. It follows that if 5% of normal results are outside the
A major effect on many analytes is the acute phase "normal" range, the chance of a healthy individual having
response to any illness. This physiological process identified one abnormal result is (10.95n) where n is number of tests
by simple measures such as elevated C-reactive protein performed. When twenty tests are done, two-thirds will have
(CRP) is associated with widespread changes. There is one or more results out with the "normal range". In healthy
vascular leakage of albumin into the extravascular space individuals, chasing perceived abnormalities may not result
evident by reduced albumin levels and many micronutrient in any clinical benefit.
Biochemical and Microbiological Investigations in Paediatrics 613
Urine
There are three major aspects to the microbiological analysis
of urine:
1. Microscopy, culture and dipstick testing for leucocyte
esterase
2. A surrogate for the presence of white cells and
3. Nitrite, a bacterial product
Urine can be collected from children at a variety of ages
and in a number of ways. The age of the child and the method
of collection and storage may affect the interpretation of the
result. Fig. 29.3: Dipstick testing
Blood Samples the most commonly isolated bacterial pathogen from children
less than 2 years old with diarrhoea. The disease does not
Most blood tests performed in microbiology measure the
appear to be important in adults.
immune response to infection and the normal ranges are
In contrast in developed countries infection may occur in
broadly the same as in adults. The major exception to this is
adults and children. Poor hygiene and sanitation and the close
streptococcal serology. Infection with group A Streptococcus
proximity to animals may all contribute to easy and frequent
results in the production of specific antibodies against
acquisition of any enteric pathogen. The age of acquisition of
streptococcal exoenzymes, the most important of which are
Campylobacter in a number of countries is illustrated below
anti-streptolysin O (ASO) and anti-deoxyribonuclease-B
(Table 29.3).
(ADB).
Thus, the spectrum of pathogens sought in the
The ASO response is generally good in pharyngitis and
microbiology laboratory for children of different ages
tonsillitis but will not distinguish between infections with
will need to be determined by the knowledge of local
groups A, C and G streptococci, the response is generally
epidemiology.
poor in impetigo and pyoderma.
The mean ASO normal levels are age dependant: Antibiotic Monitoring and Interpretation
Pre-schoolless than 1:200 u/ml
School ageless than 1:320 u/ml Antibiotic Monitoring
Adultless than 1:200 u/ml It is necessary to monitor the levels of antibiotic for two
The ADB response is good in skin as well as throat major reasons. Some antibiotics have a narrow therapeutic
infections and may be more specific for group A streptococci range that is the ratio between therapeutic levels and toxic
(GAS) infection. The ADB test shows elevated titres in more levels is so antibiotic levels are measured to reduce the
than 90% of clinically diagnosed cases of pyoderma, acute potential for toxicity. For other antibiotics it may not always
glomerulonephritis and acute rheumatic fever. ADB titres be possible to predict serum levels, in this case antibiotic
peak later than ASO levels and remain elevated for several levels are monitored to ensure efficacy. The antibiotics whose
months. The ADB can, therefore, be of value if there is a levels are most commonly measured are the aminoglycosides
delay in diagnosis. (gentamicin, tobramycin and amikacin) and the glycopeptide
The mean normal ADB levels are age dependant: antibiotic vancomycin.
Pre-school1:60
School age1:170 Aminoglycoside Dosing and Monitoring
Adult1:85 Gentamicin should preferably be given as an intermittent
IV Infusion with the antibiotic diluted with a maximum of
Examination of Faeces 100 ml compatible infusion fluid and administered over 30
Pathogens found in the stools of children are broadly the same minutes. The undiluted solution may however be given as a
as those found in adults. However, the age of acquisition of slow IV Bolus injection administered over 35 minutes.
such pathogens varies between developed and developing The dosage varies with the age of the child and the
countries. In developing countries, Campylobacter, e.g. is indication for gentamicin therapy. For most indications a
Biochemical and Microbiological Investigations in Paediatrics 617
single daily dose regimen should be employed as it ensures All age groups; peak concentration (1 hour post dose)
effective peak levels and minimises side-effects. In this case should measure 812 mg/L and trough concentration (pre-
the dose should be: dose) should measure less than 2 mg/L.
Neonate (< 32 weeks): 45 mg/kg every 36 hours
Neonate (> 32 weeks): 45 mg/kg every 24 hours Endocarditis
Child 1 month18 years: 7 mg/kg every 24 hours In endocarditis due to Streptococcus viridans gentamicin is
However, a single daily dose regimen is not appropriate used for its synergistic effects with penicillin and as such
for all patients and those with endocarditis, meningitis and lower concentrations are acceptable.
cystic fibrosis should be managed with a multiple daily dose The first peak concentration should be measure in 1 hour
regimen. For endocarditis and meningitis the dose is as after third dose. The first trough concentration should be
below:
taken immediately before the fourth dose.
Neonate (< 29 weeks): 2.5 mg/kg every 24 hours
Peak concentration (1 hour post-dose) should measure
Neonate (2935 weeks): 2.5 mg/kg every 18 hours
35 mg/L and trough concentration (pre-dose should measure
Neonate (> 35 weeks): 2.5 mg/kg every 12 hours
less than 1 mg/L).
Child 1 month12 years: 2.5 mg/kg every 8 hours
If there is no change in dosage regimen or renal function,
Child 1218 years: 2 mg/kg every 8 hours
repeat trough levels every 3 days.
For cystic fibrosis patients with Pseudomonal lung
infection the dose should be:
Vancomycin Therapy
1 month18 years: 3 mg/kg every 8 hours
In patients with impaired renal function, the daily dose Vancomycin is a glycopeptide antibiotic, which is active
may need to be reduced and/or the intervals between doses against gram-positive organisms. Critically ill children
increased to avoid accumulation of the drug. require higher doses of vancomycin to achieve therapeutic
levels.
Gentamicin Monitoring Single Daily Dose Regimen Trough levels should be taken any time after 2 hours
Plasma concentrations and renal function should be monitored before the next dose is due prior to the third dose.
to ensure efficacy and prevent toxicity. Frequency should be The target trough level is 815 mg/L, however, the
adjusted according to the results obtained. microbiologist may request higher levels in some infections.
Measure the first trough concentration immediately Peak levels do not need to be checked routinely.
before the second dose and peak concentration (if required) If trough levels are within accepted range and there is no
1 hour after second dose. change in renal function no further monitoring is required.
Neonates: Peak concentration (1 hour post-dose) should If trough levels are low (< 8 mg/L), increase the dosage
measure 812 mg/L and trough concentration (pre-dose) interval to 6 hourly
should measure less than 2mg/L. If trough levels are high (> 15 mg/L), reduce dosing
Child 1 month18 years: Trough concentration (pre- interval to 12 hourly
dose) should measure less than 1 mg/L. Peak concentrations Re-check levels.
are less critical with this dose regimen in this age group. If renal function deteriorates (increase in creatinine more
than 50% from baseline or 50% drop in urine output) during
Multiple Daily Dose Regimens the course of vancomycin therapy recheck trough level as
The first peak concentration should be taken 1 hour after soon as possible. Adjust doses only if necessary, following
third dose. Measure first trough concentration should be the guidance above.
immediately before the fourth doses.
Alastair Turner, NV Doraiswamy
C H A P T E R
Paediatric Emergencies 30
INTRODUCTION An alternative, if the childs age is known, is to use the
following formula:
Paediatric patients who present to the emergency department Weight (in kg) = (Age + 4) 2
pose extraordinary challenges to healthcare personnel. Faced
with such a patient the situation can at first appear frightening This formula is relatively accurate for children between the
and overwhelming. The purpose of this chapter is to give a ages of 1 year and 10 years and has the advantage that it
brief account of common emergencies seen in the paediatric can be used to plan drug and fluid doses before the childs
population and in the process provide a simplified, structured arrival. For children less than 1 year, in general the birth
approach to the management of these children that can be weight becomes double at 6 months and triple at 12 months
applied to any situation. In the process outcomes for these of age. If birth weight is not known, full term neonate can
patients can be improved and a stressful situation can be be considered to weigh 34 kg and 12-month-old infant as
transformed into ultimately one of the most satisfying areas 10 kg.
of paediatric medicine.
Anatomy and Physiology
DIFFERENCES BETWEEN ADULTS AND Children have important differences in their anatomy and
CHILDREN IN THE EMERGENCY DEPARTMENT physiology to adults that impact on their emergency care.
Children are not small adults. They demonstrate important Airway and Breathing
differences in their size, anatomy, physiology and psychology
that impact on management in the emergency setting. Young children have relatively larger heads and shorter
necks than adults and this can result in relative neck flexion.
Size The face, mouth and jaw are small and the tongue large.
The trachea is short and easily compressible. In combination
Children are obviously smaller than adults and their weight
this can result in an increased risk of airway obstruction and
changes as they become older. This is important as almost
means that great care must be taken during airway positioning
all drug and fluid calculations in paediatrics are calculated
manoeuvres. In addition, childrens lower airways are also
on a per weight basis. It is, therefore, essential to have a
small resulting in a greater propensity to obstruction even to
relatively accurate weight for any child presenting to the
relatively minor stimuli such as viral infections. Additionally,
emergency department. Occasionally a parent or guardian
infants rely mainly on diaphragmatic breathing that tends to
may know the childs weight but this tends to be the
fatigue more easily than adults. Childrens lungs are smaller
exception. The most accurate means to assess the childs
and their respiratory rates fastera respiratory rate of 40/
weight is to simply weight the child (either on their own
min may be normal in an infant but signify severe respiratory
or whilst being held by a parent) however, this is often
distress in a 12 year old.
impractical in the emergency setting. Other methods are,
therefore, required.
Circulation
The Broselow tape is a tape measure that is laid alongside
the child and gives an estimate of the childs weight based on Infants have a relatively small, fixed stroke volume that
their height. It is easy to use, relatively accurate and requires relies on a tachycardic response to increase cardiac output.
minimal training in its use. This means they tolerate bradycardia poorly. Stroke volume
Paediatric Emergencies 619
Table 30.1: Normal range of respiratory rate, heart rate and blood The structured approach relies on four basic principles:
pressure according to ages 1. Preparation and teamwork: It is of great benefit when a
Age in years Respiratory rate Heart/Pulse rate Systolic BP dedicated communication line from and to the Ambulance
<1 3040 110160 7090 Service and the Emergency Medicine Department is
12 2535 100150 8095 available. Basic information can be gathered such as the
25 2530 95140 80100 patients age and current problems. This allows the team
512 2025 80120 90110 to develop a state of readiness. In particular two key
>12 1520 60100 100120 areas can be prepared:
A. Calling for relevant help in advance, e.g. anaesthetic
increases with age as the heart enlarges. This results in or intensive care support. Resuscitation is reliant on a
babies and young children having faster resting heart rates team approach.
than older children and adults. It is, therefore, important to Blow the whistle first and assemble the players before
have an appreciation of the normal range of age specific heart starting the game.
rates (Table 30.1). A heart rate of 60/min in an adult can B. Prepare appropriate equipment, drugs and fluids. In
be normal, in an infant it is considered as a cardiac arrest. a resuscitation situation even simple calculations can
Young children have a relatively higher circulating blood prove challenging. Spending a few minutes before the
volume per bodyweight (newborn 85 ml/kg, 1 year old 80 arrival of the patient calculating the likely weight,
ml/kg, 10 year old 75 ml/kg) than adults (70 ml/kg) but the drug doses, defibrillation charge, endotracheal tube
actual total blood volume is small. The young child does, size, etc. can prove extremely valuable and make any
therefore, not tolerate blood loss well, even when the amount resuscitation run more smoothly.
appears to be relatively small. Similarly, even relatively 2. Recognise and treat immediate life-threatening situations
small amounts of fluid loss, such as diarrhoea, can result in (resuscitation): This should be approached via a systematic
significant dehydration. Airway, Breathing, and Circulation (ABC) approach.
Examples include obstructed airway requiring airway
Psychology
opening manoeuvres, apnoea or severely compromised
Children are often very frightened in the emergency breathing requiring oxygen or assisted ventilation, and
department. The appearance of a large number of adults they circulatory collapse or cardiorespiratory arrest requiring
do not know, no matter how well-intentioned, can at times be fluid administration or CPR. At this stage recognition
overwhelming and make the assessment of a child difficult. and management of the initial problem is more important
Young children are often non-verbal and find it difficult to than the underlying diagnosis.
express their emotions. In these settings the presence of 3. Identify key features that point to a likely working
tachycardia and tachypnoea can be difficult to distinguish diagnosis so that early emergency treatment can be
between pathology and emotional distress. It is important, started: For example, the presence of a rash and fever
therefore, to attempt to minimise the distress caused to the may point to the provisional diagnosis of sepsis and allow
child. The child should always be accompanied by their early use of appropriate antimicrobials. Recognition
parents except in the most exceptional circumstances. The of a heart murmur in a collapsed infant may point to
number of staff around the child and the background noise a diagnosis of a duct-dependent cardiac lesion and the
should be kept to a safe minimum whenever possible and a initiation of a prostaglandin infusion. In both of these
caring, gentle approach taken at all times. situations emergency treatments can be initiated before
an absolute definitive diagnosis is arrived at.
BASIC STRUCTURED APPROACH TO 4. Stabilisation and transfer: Once the patient has been
MANAGEMENT resuscitated and emergency treatment has been started the
next aim is to optimise the patients condition. This involves
A structured approach to any seriously ill patient allows
a thorough reassessment of the patients physiology and
appropriate early resuscitation and stabilisation to occur,
response to resuscitation, repeating the ABC approach,
even if the definitive diagnosis is complex or not known. It
and may involve additional treatment. Examples include
is highly reliant on adequate preparation and teamwork is
optimising electrolytes in a patient post-cardiac arrest
essential. It is the approach recommended by resuscitation
or splinting a femoral fracture in a patient post-trauma.
organisations such as the Advanced Life Support Group.
Arrangements can then be made for the safe transfer of the
Any emergency can be approached in this manner.
patient to an area where definitive treatment can be offered
Problem Recognition and Treatment have Higher or ongoing resuscitation provided, e.g. operating theatre,
Priority than Definite Diagnosis. ward or intensive care unit.
620 Hutchison's Paediatrics
With practice this structured approach can be used quickly similar national resuscitation organisations within ones own
and effectively and allows a hierarchical approach to serious country. In addition, hospitals and emergency departments
problems encountered rather than relying on establishing can run their own in-house mock resuscitation-based
a definitive diagnosis before treatment is initiated. It can, scenarios where staff can practice their skills on resuscitation
therefore, be applied to any condition or situation and mannequins on a regular basis. The standard format as
does not rely on specialist knowledge of at times complex outlined by resuscitation manuals is documented below.3,4
conditions.
Mechanisms of Cardiac Arrest in Children
Key Learning Points
Problem recognition is more important than establishing a Children are usually healthy with excellent cardiac function,
definitive diagnosis. normal heart valves and patent coronary arteries that are not
Always manage problems in an ABC approach. Life-threate compromised by atherosclerosis. The mechanisms of cardiac
ning problems must be recognised and treated first. arrest in children are, therefore, different from those of adults.
Be aware of age-specific normal ranges.
In children cardiac arrest usually occurs secondary to either
Team work is essential in the emergency management of
respiratory or circulatory failure (e.g. severe asthma, airway
unwell children
obstruction or septic shock) rather than a primary cardiac
event such as arrhythmia due to myocardial infarction. This
CARDIAC ARREST means that there may be a period pre-arrest in children that
The science underpinning guidelines on the management of is amenable to intervention to prevent progression to cardiac
cardiac arrest in children is constantly evolving. In response arrest. It also means that when a cardiac arrest does occur the
to this, new consensus guidelines have recently been published arresting rhythm is often asystole and the outcome is often
in 2010 by the European Resuscitation Council, the American poor. It is, therefore, important to realise the importance of
Academy of Paediatrics, the American Heart Association recognition of the sick child to prevent cardiac arrest and the
and the International Liaison Committee on Resuscitation importance of following standard treatment algorithms when
(ILCOR). References are provided at the end of the chapter a cardiac arrest has occurred.
for interested readers who wish to explore these guidelines in
Paediatric Basic Life Support
greater depth.1,2 Drug doses are given in the algorithms and
in Table 30.2. Full proficiency at these skills is best achieved The algorithm for the management of paediatric basic life
by attending a course provided by organisations such as the support is demonstrated in Figure 30.1. The sequence of
Advanced Life Support Group, Resuscitation Council or actions is as follows:
may worsen outcome. Do not stop resuscitation unless Advanced Management of Cardiopulmonary
there are definite signs of life or a definite strong pulse Arrest
greater than 60 beats/min is detected.
The key difference between basic life support and advanced
The Choking Child/Foreign Body in Airway life support is the early assessment of underlying cardiac
rhythm to identify whether defibrillation may be of benefit.
The algorithm for the management of the choking child Shockable rhythms are pulseless ventricular tachycardia (VT)
is shown in Figure 30.2. Foreign body obstruction of the and ventricular fibrillation (VF). They are most likely to occur
airway most commonly occurs in younger children when in the context of a sudden, witnessed collapse and account
eating or playing with small toys. The onset of choking for approximately 520% of paediatric cardiac arrests and
or stridor is usually very suddenly and the child is usually
are more likely the older the child. Non-shockable rhythms
otherwise well with no prodrome. This distinguishes it from
are pulseless electrical activity (PEA) [previously known as
other causes of upper airway obstruction such as croup or
electromechanical dissociation (EMD)], bradycardia less than
epiglottitis in which the child usually has a prodromal illness.
60 beats/min and asystole. They account for the majority of
The treatment of airway obstruction due to other causes, e.g.
paediatric cardiac arrests and are the usual arresting rhythm
croup or epiglottitis is different from that of foreign body
in cardiac arrest in children secondary to hypoxia of whatever
obstruction.
cause. The algorithm for advanced paediatric life support is
The main feature of the algorithm is distinguishing
between an effective and ineffective cough. The child who demonstrated in Figure 30.3 and a more detailed analysis of
is alert and coughing effectively (loud cough, crying, fully the management of shockable rhythms is shown in Figure
responsive, able to take breaths) should be carefully observed 30.4. It is important to note that basic life support is initiated
until the foreign body is expelled or the child deteriorates. If at the start of advanced resuscitation until monitoring has been
the cough is ineffective (unable to vocalise, unable to breath, established and the underlying rhythm analysed and as such
cyanosed, quiet or silent cough) then the child should be it is important to emphasise that even advanced resuscitation
placed in a head down position over the rescuers knee and practitioners should be fully competent in basic life support.
back blows given (heel of one hand, blow directed between During cardiopulmonary resuscitation consideration
the scapulae). If the foreign body has not been expelled after should be given to possible reversible causes of cardio
five back blows then chest thrusts (same landmarks as for pulmonary arrest. These can be remembered by using the 4
CPR) should be used in infants, and abdominal thrusts in Hs and 4 Ts approach:
children over 1 year old. Abdominal thrusts should not be 4 Hs 4 Ts
used in infants due to the high risk of abdominal injury in this Hypoxia Tension Pneumonthorax
age group. If at any point the child loses consciousness then Hypovolaemia Toxins
the rescuer should revert to the Basic Paediatric Life Support Hyper/hypokalaemia Tamponade (cardiac or pulmonary)
Hypothermia Thrombosis (cardiac or pulmonary)
algorithm (Fig. 30.1).
Fig. 30.2: Paediatric choking treatment algorithm. (Reproduced with the kind permission of the Resuscitation Council, UK)
Paediatric Emergencies 623
Fig. 30.3: Advanced paediatric life support (Copyright, European Resuscitation Council, www.erc.edu, 2011/001, Reproduced with the kind
permission of the Resuscitation Council, UK)
The sequence of action in advanced paediatric life support 4. Shockable rhythms: The main determinant of outcome in
is as follows: cardiac arrest secondary to a shockable rhythm is the time
1. Commence basic life support as above, providing a to defibrillation. For every minute delay in defibrillation
compression:ventilation ratio of 15:2. survival decreases. Defibrillation should, therefore,
2. Establish cardiac monitoring and assess cardiac rhythm: be attempted immediately upon identification. The
This should be done as soon as possible and can be done defibrillation charge should be 4 J/kg for all shocks and
by the attachment of defibrillation pads that also assess the dose chosen should be rounded upwards in the event
rhythm. that the deliverable dose is not identical to that available
3. Identify whether arrest rhythm is shockable (pulseless on the defibrillator. Give one shock then immediately
VT, VF) or non-shockable (pulseless electrical activity, recommence CPR for 2 minutes before assessing rhythm
bradycardia or asystole). on the cardiac monitor. If still in pulseless VT/VF then
624 Hutchison's Paediatrics
give a second shock and recommence another 2 minutes mechanism of cardiac arrest in newborn babies is usually
CPR. Recheck the rhythm again after completing 2 asphyxia. The newborn infants lungs are usually small and
minutes CPR, if still in pulseless VT/VF give a third fluid filled. The emphasis is, therefore, upon delivering
shock and recommence CPR. Following the third shock effective prolonged rescue breaths to allow adequate lung
an intravenous or intraosseous dose of adrenaline [10 g/ inflation thus permitting gas exchange and oxygenation to
kg (0.1 ml/kg of 1 in 10,000 adrenaline)] and a dose the oxygen starved brain and myocardium. The algorithm for
of amiodarone 5 mg/kg should be given. Cycles of 2 newborn life support is shown in Figure 30.5.
minutes CPR followed by defibrillation should continue
until an organised rhythm is established. Further doses of
Post-arrest Management
adrenaline should be given every alternate cycle (every Following cardiac arrest the patient should be referred to
35 min) and a second dose of amiodarone if still in the intensive care unit for ongoing care. The key aims of
pulseless VT/VF after the fifth shock. management at this point are prevention of further cardiac
5. Non-shockable rhythm: Continue CPR. Give adrenaline arrest and minimisation of other end-organ damage,
via the intraosseous or intravenous route [10 g/kg (0.1 primarily protection of the brain. Cardiac dysfunction
ml/kg of 1 in 10,000 adrenaline)] and repeat every 35 following cardiac arrest is common and is best managed by
minutes. the use of vasoactive infusions of inotropes such dopamine,
6. Consider the reversible causes of cardiac arrest and treat adrenaline, noradrenaline and milrinone. The risk of further
if present. cardiac arrest in the setting of arrhythmia can be minimised
7. Monitor blood sugar frequently and correct any by optimising serum electrolyte levels and possibly the
hypoglycaemia. addition of antiarrhythmics such as an amiodarone infusion.
Maintaining an adequate blood pressure is important in
Newborn Life Support ensuring an adequate cerebral perfusion pressure in a
patient group that has experienced a period of compromised
More information on the management of newborns is given cerebral blood flow during the arrest period. In patients who
in Chapter 3 Neonatal Paediatrics. There are a number of remain comatose there is some evidence that a degree of
key differences between resuscitating newborn babies and neuroprotection may be afforded by avoiding hyperthermia
children. When born the newborn baby is small, wet and and possibly inducing mild therapeutic hypothermia (32
naked, this means he is prone to hypothermia very quickly, 34oC) for at least 24 hours with the use of external cooling
even in warm climates. It is important, therefore, to dry combined with adequate sedation and muscle relaxants. Blood
and warm the baby as soon as possible as it is difficult to sugar should be monitored frequently and hypoglycaemia
resuscitate a baby that is hypothermic. Additionally, the main treated.
Paediatric Emergencies 625
Airway
The airway is corrected with the patient in a neutral (infant)
or sniffing position (children) with head tilt and chin lift (jaw
thrust, without tilting, for trauma). Removal of secretions
can be performed using a Yankauer sucker and visible
foreign bodies in the mouth should be removed using Magill
or similar forceps. Additional airway support, if necessary,
can be given by the use of an oropharyngeal airway (Guedel
airway) or nasopharyngeal airway. Nasopharyngeal airways
should not be used in head-injured children who may have
a basal skull fracture. If it is difficult to establish an airway
despite these measures consideration should be given to either
Laryngeal Mask Airway (LMA) placement or endotracheal
intubation.
Breathing
Oxygen should be delivered to all patients at maximum flow
(15 L/min) via a face mask with a non-rebreathing reservoir
bag until resuscitation is complete. The addition of an inflated
reservoir bag allows oxygen concentrations close to 100% to
be achieved. It is important to note that simple face masks
and nasal cannulae can only deliver oxygen concentrations
of between 24% and 50%, irrespective of oxygen flow rate
Fig. 30.6: Resuscitation of the trauma patient SBSandBag, RB
and should not be used in the resuscitation environment. Reservoir Bag, OT + MOxygen Tube and Mask, CCCervical Collar,
Continuous monitoring of oxygen saturation (SpO2) using a NTNeedle Thoracocentesis, CClavicle, NNipple, UUmbilicus
pulse oximeter applied to the finger or toe is useful to assess
the severity of hypoxia and monitor response to treatment. corrected. Tension pneumothorax should be managed with
Air entry should be equal and adequate on both sides. emergency needle thoracocentesis just under the midpoint of
Respiratory rate should be assessed as to whether it is within the clavicle followed by an intercostal drain [Fig. 30.6 (NT)].
the normal range for a child of that age. Added sounds Simple pneumothorax and haemothorax should be managed
should be noted. Stridor suggests upper airway obstruction, with an intercostal drainage placed in the fifth intercostal
wheeze suggests lower airway obstruction. Stridor should space (approximately the nipple line) in the midaxillary line.
be managed with nebulised adrenaline and oral or IV A sucking effect can be prevented with an occlusive dressing
dexamethasone if due to croup or antibiotics and nebulised applied on three sides for open pneumothorax thus preventing
adrenaline if due to epiglottitis. Stridor due to foreign progression to a tension pneumothorax. Endotracheal tube
body aspiration should be managed following the protocol ventilation may be required for a flail segment when oxygen
documented above for Foreign Body Airway Obstruction and saturation cannot be improved.
discussed with anaesthetic and ENT colleagues as a matter
of urgency. Wheeze due to asthma should be treated with Circulation
bronchodilators such as salbutamol and ipratropium with the
addition of oral or IV steroids. Grunting suggests significant Assessment of the circulation is based on heart rate, capillary
respiratory distress in an infant and its presence should alert refill time and blood pressure. Heart rate and capillary refill
the team that additional respiratory support may be required time are the most important of these variables. Tachycardia in
such as nasal CPAP or ventilation. Other signs suggesting children is an early sign of pending circulatory collapse and
significant respiratory distress include nasal flaring and bradycardia should be treated as per cardiac arrest protocols.
subcostal, intercostal and suprasternal recession. Unfortunately, the heart rate is also influenced by other
In the trauma patient if breathing is inadequate on one variables such as pain, anxiety and pyrexia making its use in
side, intrathoracic obstruction should be considered and isolation problematic. Capillary refill time is another useful
Paediatric Emergencies 627
measure of circulatory adequacy. Refill times greater than 23 such are prone to hypoglycaemia. Additionally, infants can
seconds are suggestive of poor tissue perfusion, particularly present collapsed with hypoglycaemia as part of a metabolic
if associated with tachycardia or bradycardia. Blood pressure disorder. If the finger prick (BM) and/or laboratory blood
is usually maintained in children until immediately prior to sugar is below 3 mmol/L, a bolus injection of glucose should
circulatory collapse and therefore the presence of a normal be administered. The dose is as follows.
blood pressure does not exclude circulatory insufficiency.
A dropping blood pressure is a late sign of shock and its 5 ml/kg of 10% dextrose (0.5 g/kg)
presence requires immediate intervention.
Maintenance fluids should contain dextrose (e.g. 0.9%
Circulatory failure is initially treated with volume
saline + 5% dextrose) to avoid hypoglycaemia and should
expansion. Venous access may prove difficult and if there is
be commenced as soon as possible if the child is not able to
any delay in establishing venous access then the intraosseous
route can be accessed easily and rapidly with an intraosseous eat or drink.
needle. The fluid of choice for initial resuscitation is an
Disability
isotonic crystalloid solution, e.g. 0.9% saline solution.
Dextrose containing solutions should be avoided in the It can be assessed using Glasgow coma score (GCS) and/or alert,
resuscitation phase unless hypoglycaemia is present as they response to voice/pain or unresponsive (AVPU), size, reaction
fail to remain in the circulation and can cause hyponatraemia and equality of both pupils and neurological examination
and cerebral oedema. Boluses of 0.9% saline (20 ml/kg) including the position of the patient (decorticate or decerebrate).
should be given rapidly over 510 minutes and response to Though many are important, oxygen and blood sugar are the
treatment assessed after each bolus by assessing heart rate, two most vital elements to sustain some basic cerebral functions.
refill time and blood pressure. Further, boluses should be The brain can be insulted by many different ways, but reduced
administered up to 60 ml/kg total volume if necessary. If oxygen and sugar will derange the brain sufficiently to disturb
signs of circulatory failure persist despite 60 ml/kg of volume all other functions. Sufficient oxygen should be made available
resuscitation then an inotropic drug infusions should be to the brain, by effective oxygenation and oxygen delivery
commenced. Dopamine, dobutamine or adrenaline infusions using the ABC approach. Fixed pupils and abnormal posturing
should be considered in the first instance. Dopamine and are ominous signs that suggest raised intracranial pressure.
dobutamine have the advantage of being safely given via In their presence mannitol should be given and arrangements
a peripheral line. Adrenaline should ideally be given via a should be made for urgent transfer to the CT scanner whilst the
central venous line but weak concentrations can be given neurosurgical team is contacted.
peripherally in the resuscitation scenario. In the case of
vasodilated septic shock the addition of noradrenaline may be Exposure
useful. If more than 60 ml/kg volume replacement is require
then the child should be intubated and ventilated. This is for The team can cut the clothes and remove the footwear so
several reasons. The administration of large volumes of fluid that A, B, C, D can be assessed better. When the patient is
frequently results in pulmonary oedema which can be easily lying, supine examination can be done for only 50% of the
managed with mechanical ventilation. Positive pressure body. It should be remembered that there is another 50% to
ventilation also provides additional inotropic support to a be examined on the dorsal aspect in case other significant
failing left ventricle by reducing after load. In addition, by injuries are missed. Coordinated effort to turn the patient
removing the work of breathing positive pressure ventilation as log roll (three or four persons according to the size of
reduces the metabolic demand on the body and allows the the patient)1,2 allow safe examination of the patients back
cardiac output to redistribute to other organs such as the and preserve the existing neurological function even in the
brain, kidneys and heart. If further fluid is required it can presence of vertebral injury.
be administered as blood to increase the oxygen carrying
Key Learning Points
capacity in addition to filling the vascular compartment. In
Recognition of the sick child is a critical component of
the trauma patient attempts should be made to control any
emergency paediatric care.
obvious source of ongoing haemorrhage. Management should be based on an ABC approach and
problems dealt with as they are encountered.
Dont Ever Forget Glucose (DEFG) High flow oxygen should be given via a face mask with an
inflated reservoir bag.
All patients should have a blood glucose level checked. This A normal blood pressure does not mean that the circulation is
can usually be done quickly and accurately with a near-patient adequate.
glucometer machine. Children have small livers and limited Hypotension is a late, pre-terminal sign and needs immediate
glycogen stores that are rapidly depleted when unwell and as treatment.
628 Hutchison's Paediatrics
The biochemical criteria for DKA are: The effective osmolality should be protected and only
Hyperglycaemia > 11 mmol/L allowed to drop slowly (1.52 mOsm/hr). Hyponatraemia
Venous pH < 7.3 or plasma bicarbonate < 15 mmol/L is commonly seen in DKA due to osmotic shifts in water
Ketonemia or ketonuria. from the intracellular compartment to the extracellular
The basic goals of therapy are to correct dehydration, compartment and due to an elevated lipid fraction that
correct acidosis and reverse ketosis, restore blood glucose has a low sodium content. Plasma sodium levels are
to near normal and avoid complications of therapy. It is therefore unreliable at estimating levels of dehydration.
important to recognise that correction of DKA should As the plasma glucose falls the plasma sodium usually
be a gradual process over approximately 48 hours as
rises and effective osmolality should remain stable. If
rapid correction of blood glucose and excessive fluid
the effective osmolality falls rapidly then the sodium or
administration is associated with an increased risk of cerebral
glucose levels of the rehydration fluid may need to be
oedema. National and international guidelines exist to aid the
management of DKA.6,7 changed e.g. increase glucose concentration to 10%. It
The key features of the management of DKA are as follows: may even be necessary to reduce the insulin infusion
1. Initial fluid resuscitation over the first 1 hour with 0.9% to 0.05 units/kg per hr if the blood glucose or effective
saline if the patient is shocked. Usually the maximum osmolality continue to drop precipitously despite fluid
fluid resuscitation should be 1020 ml/kg and only alterations, although the insulin infusion must never be
exceptionally is more than this required as resuscitation stopped.
fluid. 4. Potassium replacement: Patients presenting with DKA
2. Commence insulin infusion at 0.1 units/kg per hour after typically have a low total body potassium level. As soon
fluid resuscitation has taken place over the 1st hour. This as it is established that the patient is passing urine and not
is because restoration of circulating blood volume often in renal failure potassium replacement should be started
results in a significant reduction in blood glucose due to early (add 40 mmol KCl/1000 ml of replacement fluid).
a combination of improved glomerular filtration rate and ECG monitoring should be instituted due to the risk of
dilution. Commencing insulin early may accelerate the arrhythmia.
rapid drop in blood sugar and increase the risk of cerebral 5. Avoid bicarbonate: The acidosis seen in DKA is as
oedema. The aim is to reduce the blood sugar slowly and
a result of ketoacid production and dehydration. It
to prevent drops of greater than 5 mmol/L per hour.
slowly resolves with the administration of insulin
The insulin infusion should normally remain at 0.1 u/
and fluid. There is no clinical benefit from the use
kg/hr to slowly normalise blood sugar and suppress
lipolysis, ketogenesis and acidosis. of bicarbonate and its use may be associated with an
increased risk of cerebral oedema. The only occasion
50 units soluble insulin added to 50 ml 0.9% saline = 1 unit/ml.
when bicarbonate may be useful is in selected patients
Run infusion at 0.1 units/kg per hr (equivalent to 0.1 ml/kg per hr)
with severe acidosis (pH < 6.9) with resulting
3. Correct dehydration slowly: Fluid replacement should take haemodynamic compromise.
place over 48 hours. Usually the fluid deficit is calculated 6. Be aware of cerebral oedema: The mechanism of cerebral
as 5% of total bodyweight in moderate DKA and 10% of oedema in DKA is complex and not fully understood.
bodyweight in severe DKA and is added to maintenance It is associated with excessive fluid administration,
fluids. Resuscitation fluids administered should be rapid changes in blood glucose and effective osmolality
subtracted from the total. Initial fluid management should although it is also seen in patients who have received
be with 0.9% saline or Ringers Lactate for at least 6 hours. no therapy. Cerebral oedema usually presents clinically
Thereafter, the minimum tonicity of any replacement
412 hours after starting treatment but can be seen at
fluid should be 0.45% saline, although more commonly
any time from diagnosis up to 48 hours later. Clinical
0.9% saline is used throughout. Hypotonic fluids are not
features include headache, vomiting, altered level of
appropriate. When the plasma glucose is 1417 mmol/L
then 5% glucose should be added to the infusion fluid (i.e. consciousness, cranial nerve palsies and abnormal
0.9% saline/5% dextrose or 0.45% saline/5% dextrose). posturing. Management is with mannitol and referral to
The key principle of fluid replacement is to rehydrate intensive care for intubation and ventilation.
whilst avoiding rapid changes in effective osmolality 7. Treat underlying cause: In some cases DKA may be
which may increase the risk of cerebral oedema. precipitated by an underlying condition such as an
infection. If such a cause is identified it should be
Effective osmolality = [2 (Na + K)] + Glucose. treated.
630 Hutchison's Paediatrics
Poisoning
Iron, tricyclic antidepressants, opiates, paracetamol,
salicylates, etc. are some of the commonly ingested
medications with high fatality rates. In any unconscious
child without a clear history suggestive of illness ingestions
of medications or toxins should be considered. The patient
should be stabilised and deficits of A, B, C, D, E addressed
while waiting for the results of poison profile tests in blood
and urine when the medications or toxins are unknown.
Specific antidotes should be given in appropriate doses when
the substance is identified. For example N-acetylcysteine in
paracetamol overdose. Charcoal should be used carefully in
certain indications and not as routine. It must not be used
unless the airway is secure as aspiration of charcoal can
result in significant lung injury.
Accidental ingestion is more common in infants and young
children although deliberate ingestions are not uncommon in
older/teenage children (Chapter 19 Accidental Poisoning in
Childhood).
Seizures are common in childhood and a common cause of (0.5 mg/kg) or buccal midazolam (0.5 mg/kg) can be
presentation to the emergency department. The commonest given. Lorazepam is the initial drug of choice if an IV
cause of seizures in childhood is a simple febrile convulsion line is available as it is equally efficacious as diazepam at
which often resolves spontaneous without intervention. The terminating seizures but has a longer duration of action
differential diagnosis, however, includes hypoglycaemia, and causes less respiratory depression than diazepam.
meningitis or encephalitis, epilepsy, hypertensive encephalo Buccal midazolam is fast-acting and effective but its
pathy and raised intracranial pressure. It is important to duration of action is less than lorazepam. The correct
note that whilst the differential may be diverse, the initial dose can be drawn up from the IV preparation and
management is identical in all cases and involves following injected (without an attached needle) into the buccal
the ABC approach outlined earlier and the Emergency mucosa between the gum and bottom lip. This method of
Treatment of Convulsion protocol outlined below administration is easier and more socially acceptable than
(Fig. 30.7). the rectal route for diazepam, although rectal diazepam
The key components of the Emergency Treatment of remains an effective alternative.
Convulsion protocol are as follows: 3. Wait for 10 minutes: This is important as in many cases
1. Commence high flow oxygen and check blood sugar as the seizure will terminate if the drugs are given time
soon as possible. Treat any hypoglycaemia. to work. If further doses of benzodiazepine are given
2. Insert an IV cannula and give IV lorazepam (0.1 mg/ before 10 minutes the chance of respiratory depression
kg). If IV access is not possible then rectal diazaepam is increased. If this occurs it can usually be managed
Paediatric Emergencies 631
with simple airway opening manoeuvres and bag or mask Respiratory Distress
ventilation.
Reduction in the diameter of the airway is a common reason
4. If vascular access is still not available a dose of rectal for acute respiratory distress in the paediatric age. Larger
paraldehyde should be given. This should be made up in airways like the trachea and bronchi may be narrowed
equal volumes of saline or olive oil. It is frequently stated due to infection such as croup (laryngotracheobronchitis),
that paraldehyde needs to be given in a glass syringe. epiglottitis or bacterial tracheitis as well as foreign bodies or
This is not necessary and paraldehyde can be drawn up tumours. Smaller airways may be narrowed in conditions such
in a plastic syringe so long as it is not allowed to stand in as asthma or bronchiolitis. It is important to remember that
the plastic syringe for more than a few minutes. resistance to gas flow in the airway is inversely proportional
5. If venous access is available then a second dose of to the airway radius to the power of 4 (1/r4) and as such even
lorazepam should be given after 10 minutes. small reductions in radius can result in a significant reduction
6. If still seizuring after another 10 minutes (total 20 minutes in gas flow. As a general rule, upper airway obstruction
since first dose of lorazepam or midazolam/diazepam) results in stridor and lower airway obstruction in wheeze.
then an IV loading dose of phenytoin should be given Severe infection like pneumonia affects the parenchymal
over 30 minutes. If paraldehyde has not been given at function and reduce the airspace available for gas exchange.
this stage it should be given whilst the phenytoin is being
prepared. Epiglottitis
7. If after administration of phenytoin the child is still fitting, Due to compulsory vaccination against Haemophilus
then the child will required to be intubated and ventilated Influenza B (HiB) the incidence of epiglottitis is declining in
using thiopentone as an induction agent. Normally, this many countries, but this remains a life-threatening disease
would not be done until approximately 4050 minutes in the unvaccinated childhood population. Acute respiratory
after the first dose of benzodiazepine as time must be distress not settling or rapidly progressing over a few hours
given for subsequent doses of lorazepam, paraldehyde accompanied by stridor, should alert the practitioner as to
and phenytoin to work. An anaesthetist or intensivist the possibility of epiglottitis. Other features such as a sick
should be involved at this stage as ongoing care will be toxic looking child, high fever and the inability to speak
required in the intensive care unit. or whisper, especially if accompanied by drooling due to
8. Treat the underlying cause, for example, antibiotics in inability to swallow secretions should help differentiate
meningitis (do not do a lumbar puncture in a fitting child epiglottitis from croup. In such a compromised airway, care
or child with reduced level of consciousness!). Most needs to be taken to prevent progression to complete airway
cases of simple febrile convulsion require no further obstruction. As such, it is important to avoid upsetting the
treatment once the seizure has been terminated. child. For example, no attempt should be made to examine
It is important to recognise the difference between the childs throat or remove the child from their parent.
seizures and abnormal posturing (decorticate or decerebrate) Immediate explanation and oxygen by mask, held by
due to raised intracranial pressure. In the event of raised mother, whilst administering nebulised adrenaline should be
intracranial pressure management should be directed towards attempted while awaiting arrival of an anaesthetist and ENT
reducing the intracranial pressure with intravenous mannitol, surgeon to secure the airway with intubation or possibly
intubation or ventilation, urgent CT brain imaging and tracheostomy or needle cricothyroidotomy. A cephalosporin,
neurosurgical intervention. such as cefotaxime and steroids, should be given when the
airway is controlled.
Key Learning Points
Key Learning Points
Approach the convulsing child with the usual ABC approach.
Check blood sugar early as hypoglycaemia can result in Epiglottitis is a medical emergency.
seizures. Give high flow oxygen and nebulised adrenaline.
Allow anticonvulsant drugs time to worktoo rapid Do not examine the childs throat.
administration of further doses of benzodiazepenes are likely Call anaesthesia and ENT as an emergency.
to cause respiratory depression. Start IV cefotaxime.
Be aware that abnormal posturing with reduced level of
consciousness may result from raised intracranial pressure Croup (Laryngotracheobronchitis)
and may be confused with a simple seizure.
In croup larger and proximal air passages are narrowed due
Treat the underlying cause.
to inflamed and oedematous mucosa of the respiratory tract.
632 Hutchison's Paediatrics
The typical presentation is of a well-looking child with a B. Bolus IV aminophylline followed by continuous
barking cough and stridor and a prodromal upper respiratory infusion.
tract infection. Occasionally, the child may be unwell when C. Bolus IV magnesium sulphate (2540 mg/kg) over 20
the diameter of the proximal passage is narrowed enough minutes.
to result in hypoxia. In most cases, croup is self-resolving. 6. If not responding or deteriorating then refer to intensive
Unwell patients should be given oral or intravenous steroids care for trial of either non-invasive mask ventilation
(dexamethasone). An alternative is nebulised budesonide. In (mask BiPAP) or intubation and invasive ventilation.
the presence of stridor and respiratory distress the child should Investigations such as CXR are rarely helpful unless
be given nebulised adrenaline. It is important to recognise pneumothorax is suspected. Likewise, antibiotics are rarely
that the presence of hypoxia suggest pending complete airway indicated unless it is felt that the exacerbation has been
obstruction and is an emergency. If the child fails to respond triggered by a bacterial infection.
promptly to steroids and nebulised adrenaline, endotracheal
Key Learning Points
intubation and ventilation is required. Intubation should
be attempted by expert anaesthetist, using the tube with The asthmatic child unable to talk in an emergency. Exhaustion
considerably less diameter. is a preterminal event.
Treat acute exacerbations of asthma aggressively then de-
Key Learning Points escalate therapy as the child improves.
Treat croup with oral, IV or nebulised steroids. If respiratory Start steroids early.
distress is present nebulised adrenaline may be useful. Do not be afraid to use intravenous salbutamol, aminophylline
The presence of hypoxia is an emergency as it suggests and magnesium.
pending complete airway obstruction. Salbutamol administration via an inhaler and spacer is the
delivery mechanism of choice in the non-oxygen-dependent
child. If the child is oxygen-dependent, salbutamol should be
Asthma
given via an oxygen-driven nebuliser.
Acute exacerbation of asthma is one of the commonest
respiratory presentations to the emergency department. It is
approached using the usual ABC approach. Assessment of Bronchiolitis
severity is based upon respiratory rate, SpO2, peak flow and Hypoxia can be resulted when the small air passages are
heart rate. Severe and life-threatening asthma are distinguished further narrowed due to inflammation in young babies
by an inability to feed or talk, exhaustion, reduced level and infants. Most of the patients can be managed at home
of consciousness and a silent chest on ausculatation. It is but may require hospitalisation if hypoxia and/or feeding
important to initiate early, aggressive therapy. If the patient is sufficiently interfered. Moderately, ill infants can be
responds favourably then treatment can be reduced. The key treated with high flow oxygen (mask and reservoir bag)
features of the management of asthma are as follows: until stabilised when nasal prong oxygen usually suffices.
1. High flow oxygen via face mask and reservoir bag. Fluid and nutrition is best managed with nasogastric
Attach SpO2 monitor. tube feeding, if too breathless to feed. Intravenous fluids
2. Give short-acting beta-agonist (salbutamol). If the child are rarely required. It is important to realise that unwell
is stable, this is best given as 10 puffs of a pressurised infants with bronchiolitis tend to have raised levels of
inhaler via a spacer. If the child is unwell and requires antidiuretic hormone (SIADH) and are, therefore, at risk
oxygen, it should be given via an oxygen-driven nebulizer of hyponatraemia. Once any element of shock has been
(2.5 mg in under 5 year olds, 5 mg in over 5 year olds). reversed, it is important to moderately restrict fluid input
If unwell, the nebulizer or spacer should be repeated at (approximately 7580% normal maintenance) until the child
20 minute intervals for the 1st hour and thereafter 14 is well enough to feed themselves and thus regulate their
hourly depending on response to treatment. own fluid balance. If the infant fails to respond to nasal
3. Give oral prednisolone (1 mg/kg) or IV hydrocortisone prong oxygen the use of nasal CPAP is often useful. Patients
(4 mg/kg) if unable to use the oral route. who fail to respond to nasal CPAP should be treated with
4. Add nebulised ipratropium bromide 250 mg if not endotracheal tube ventilation and transferred to ICU after
responding to treatment. This can be repeated at 20 stabilising. Disappointingly, there is little evidence to suggest
minute intervals. benefit of any other therapies. Antibiotics and steroids are
5. If poor response to therapy or deterioration then add the not considered beneficial, although there is some emerging
following: evidence that the combination of nebulised adrenaline plus
A. Bolus IV salbutamol followed by continuous infusion oral dexamethasone may help reduce in-patient admissions
salbutamol. from the emergency department.
Paediatric Emergencies 633
Figure 30.8: Emergency management of anaphylaxis (Reproduced with the kind permission of the Resuscitation Council, UK)
they may have a delayed onset. Stridor should be treated The most significant side effect of prostaglandin is the
with nebulised adrenaline and steroids. Wheeze should be occurrence of apnoea. This tends to be dose-dependent. If
treated as per asthma. Shock should be treated with volume apnoea is troublesome, intubation and ventilation may be
resuscitation and IM adrenaline. An adrenaline infusion required.
may be required if the patient remains unstable despite these
measures. Inborn Error of Metabolism
These children may present after a period of apparent
Collapsed Neonate normality after feeding on breast milk or standard formula at
Infants presenting collapsed in the first few days of life home. They may present collapsed with a profound metabolic
provide a unique challenge to the paediatrician. Common acidosis and hypoglycaemia. Management is with the ABC
aetiologies in this age group include sepsis, duct-dependent approach. Bicarbonate infusions may be required. The key
cardiac lesions and inborn errors of metabolism. All is to properly resuscitate the infant and provide a source of
can present in a similar fashion making early diagnosis glucose in the short term whilst feeds are stopped pending
challenging. It is, therefore, important to have a structured further investigations.
approach concentrating on ABC that covers the most likely
diagnoses. Key Learning Points
In any collapsed neonate the possibility of sepsis, duct-
Sepsis dependent congenital heart disease or an inborn error of
Sepsis causing organisms include Group B Streptococcus, metabolism should be considered.
E Coli, Klebsiella and Listeria. Antibiotics that cover these Commence broad spectrum antibiotics in any collapsed
organisms should be given early to any collapsed neonate, neonate.
e.g. cefotaxime plus amoxicillin. Have a low threshold for commencing a prostaglandin infusion.
Note that the dose of prostaglandin is in nanograms/kg per
Duct-dependent Cardiac Lesion minute.
Stop feeds and provide a glucose source if a metabolic disorder
Pulmonary obstructive lesions, such as pulmonary atresia,
is thought likely.
critical pulmonary stenosis, tricuspid atresia and transposition
of the great arteries, can present collapsed with severe
cyanosis when the ductus arteriosus closes after a few days Trauma
of life. Systemic obstructive lesions, such as coarctation of
The child with trauma should be approached. Following the
the aorta, critical aortic stenosis and hypoplastic left heart
same ABC approach as described earlier. The only difference
syndrome, can also present with collapse and may or may
is that cervical spine control should be assessed and managed
not be cyanosed depending on the general state of the child.
at the same time as the airway.
Classically, infants with systemic obstructions present with
absent femoral pulses, but it should be noted that in any Radiological Investigations
collapsed neonate palpation of any pulse is often difficult
Any child with significant trauma, particularly if they
if the patient is shocked. Infants with heart failure also
have a reduced level of consciousness or distracting
frequently have a heart murmur and enlarged liver.
painful injury, should undergo a number of standardised
The treatment of a duct-dependent cardiac lesion follows
radiological investigations known as a trauma series.
the standard ABC approach. In addition, an infusion of These include plain radiographs of the cervical vertebrae
prostaglandin should be started in any collapsed neonate in (two views in children under 10 years, three views in
which a duct-dependent lesion is suspected. Inotropic support children over 10 years), AP chest and pelvis. Time should
is also frequently required. not be wasted for X-ray chest, if tension pneumothorax
is suspected and treatment (needle thoracocentesis, at the
Maintenance of Ductal Patency lower border of the midpoint of clavicle) should be carried
Alprostadil (Prostin VR)to open duct commence at 50100
nanograms/kg per min then titrate to lowest effective dose out immediately.
(usually 5 nanograms/kg per min).
OR Head and Neck Injury
Dinoprostone (Prostin E2)to open duct commence at 20100 In the head injured patient cerebral functions may be
nanograms/kg per min then titrate to lowest effective dose depressed due to raised intracranial compression secondary
(usually 5 nanograms/kg per min)
to oedema and/or bleeding. This can result from both
Paediatric Emergencies 635
localised injury and bleeding as well as more diffuse head All patients with significant abnormalities on CT scanning
injury resulting in diffuse axonal injury. In head injuries with should be referred urgently to a neurosurgeon. In addition,
raised intracranial pressure and subsequent compression of regardless of the imaging findings, patients should be
the brain, Cushings triad (altered consciousness, slow discussed with a neurosurgeon if significant clinical concerns
pulse rate and increased blood pressure) is often noted. continue despite adequate resuscitation.
Therefore, increased pulse rate and/or low blood pressure When a head injury is severe enough to result in
should raise the suspicion of trauma and bleeding elsewhere a depressed conscious level (GCS<13), injury to the
in chest, abdomen, pelvis or major bony injuries rather cervical vertebra should be presumed to be present until
than concentrating on the head injury in isolation. The
later neurological and radiological investigations (plain
mechanism of injury may also indicate the potential severity
X-rays and, if necessary, CT or MRI) are proven to be
of the injury. High speed impacts and road traffic accidents
normal. It is important to be aware that children are at
with fatalities point to a high likelihood of significant
injury as do falls from a reasonable height. If there is any risk of spinal cord injury without any apparent radiological
suspicion of head injury then an urgent CT head scan should abnormality (SCIWORA) and therefore the cervical spine
be performed. A CT scan of the cervical spine may be done cannot be cleared until neurological examination is normal
at the same time if there is a severe head injury (GCS < 8) even in the presence of normal radiological imaging.
or if the plain films are inadequate or there remains strong Therefore, it is important to immobilise the neck with a
suspicion of injury despite normal plain films. cervical collar, spinal board and sandbags on either side
Patients who should undergo a CT head scan have been of the neck (the Ambulance Service personnel are trained
identified in the UK National Institute of Clinical Excellence to apply, from the initial scene). Controlled log rolling
Head Injury guidelines.8 They are as follows: (with three or four persons according to age) under the
Indications for urgent CT head scan: orders of the leader who stabilises head and neck, for any
Witnessed loss of consciousness lasting greater than 5 examination or procedure at the back, will minimise the
minutes risk of iatrogenic cord/nerve injury. It should be noted
Amnesia lasting greater than 5 minutes that any agitated child who struggles should not be head-
Abnormal drowsiness blocked or sandbagged as the risk of the body struggling
Three or more discrete episodes of vomiting against a fixed head may increase the chances of a spinal
Clinical suspicion of non-accidental injury cord injury.
Post-traumatic seizure with no history of epilepsy Blood loss can be considerable due to cut injuries of scalp,
Age greater than 1 year with GCS less than 14; age less especially in neonates and infants, as the blood supply to a unit
than 1 year with GCS less than 15 area of scalp is similar to tongue and heart and considerably
Suspicion of open or depressed skull fracture or tense greater than many parts of the body. Hypovolaemic shock
fontanelle may result especially in babies, even with a haematoma
Any sign of basal skull fracture (scalp, fracture femur) with loss of considerable amount of
Focal neurological deficit
blood.
Age less than 1 year with presence of bruising, swelling
Consciousness should be assessed by GCS or quickly with
or laceration greater than 5 cm on the head
AVPU scale. GCS of less than 14 indicates a serious problem,
Dangerous mechanism of injury
and head injury should be considered if the mechanism of
The key aspects of head injury management are as follows: injury is suspicious. Pupils are windows of the brain. Size,
1. ABC approach to management: Ensure adequate
reaction, equality are under the control of sympathetic and
oxygenation and blood flow to the injured brain. Apply
parasympathetic fibres (in Oculomotor nerve). Alteration
high flow oxygen and resuscitate.
(Hutchinsons pupils) indicates intracranial compression and
2. Cervical spine control: Apply hard collar and sandbag/
tape head on spinal board at same time as performing the side of the problem clinically, though CT scan is required
ABC (Fig. 30.6). to confirm and for further management.
3. GCS less than 8: Intubate and ventilate. If a significant brain injury has occurred that is surgically
4. Urgent imaging of brain: Identify any surgically amenable remedial then the patient should be intubated and ventilated
lesion early. and nursed in a head-up position. If there are signs of raised
5. Involve neurosurgeons early. intracranial pressure, a dose of mannitol may be given whilst
6. Search for and treat any other injuries. awaiting surgical decompression.
636 Hutchison's Paediatrics
Key Learning Points Open pneumothorax: When the pleura from the skin side is
cut, the air movement can be bi-directional resulting in a
Airway and cervical spine control take precedent in the trauma
sucking effect on inspiration. Gauze sealed on three sides
or head injured patient.
allows air to escape from the chest and prevents sucking air
ABC should be managed as normal to ensure adequate
from the atmosphere, thus preventing tension pneumothorax
oxygenation and circulation to the injured brain.
until a definite action is planned.
If GCS < 8 then involve anaesthetist or intensivist, and intubate
and ventilate. Lung injuries: Injury to the parenchyma of lung (contusion)
Have a low threshold for CT brain imaging. should be suspected in any child experiencing blunt or
Involve neurosurgeons early. penetrating trauma to the chest. Lung contusion is managed
in the same way as any trauma using an ABC approach.
Significant lung contusion may cause considerable respiratory
Chest Injuries distress and may require intubation and mechanical ventilation.
Pneumo/haemothorax: Acute respiratory distress developing Rib injuriesflail chestWhen ribs are fractured at two
after chest trauma can occur quickly due to the accumulation sites of the same ribs, paradoxical movements occur due
of air or blood in the pleural space with resulting acute to movement of the segment in the opposite direction of
compression of the lung(s). The child may become cyanosed, movement of the chest, resulting in poor oxygenation and
tachypnoeic, and demonstrate significant intercostal and ventilation. Endotracheal intubation may be required if
subcostal recession. The injured side of the chest may have ventilation is inadequate.
reduced movement on inspection and palpation, and reduced
air entry or disparity of air entry on auscultation. Clinical Abdominal Injuries
findings are similar to both conditions except resonant or Emergency laparotomy is indicated when a hollow viscus,
dull for percussion for air or blood trapped in the pleural such as the intestine, is perforated. A plain lateral decubitus
cavity respectively. Due to the time taken to arrange for abdominal X-ray in the supine position is often enough to
X-ray studies and imminent danger of death, an emergency recognise free intraperitoneal gas. In children with intra-
needle thoracocentesis should be done immediately when abdominal bleeding, conservative management is frequently
the diagnosis of tension pneumothorax is considered. It is satisfactory if the patient is otherwise haemodynamically
difficult to feel the menubriosternal angle or the second rib in stable. Unlike adults, when bleeding from a solid viscera
children, but even in the most obese child, it is always easy such as the liver or spleen is suspected, peritoneal tapping
to feel the lower border of the ipsilateral clavicle (Figure or lavage is not usually performed in children. Abdominal
30.6) (NT) and a needle with cannula should be introduced ultrasound (US) followed by abdominal CT, if necessary,
below the midpoint of the clavicle until a hissing noise of air are the imaging modalities of choice. In general, very few
heard allowing a tension pneumothorax to be decompressed. children will require surgical exploration if the patient has
This should be followed up with an urgent chest drain and responded satisfactorily to initial resuscitation. Emergency
underwater seal. splenectomy is a rare procedure in modern trauma care
Intercostal drainage should be performed if acute in children. Renal US and CT may help to decide further
lung compression is due to blood in the pleural cavity management of renal injuries.
(haemothorax). Nipple line in children is an easy landmark
for incision in the midaxillary line of the chest and the Pelvic Injuries
intercostal drainage tube should be inserted only after
enlarging the opening in the intercostal space sufficiently Run-over injuries typically result in pelvic injuries and
enough and feeling with a finger inside. The sharp metal genitourinary and other hollow visceral injuries may
trocar should not be used for introducing the drainage tube accompany. Immediate management is on general principles
lest injury may result to underlying structures (like stomach) of standard resuscitation. Urethral catheterisation should
if there were to be a ruptured diaphragm. It is wise to have be performed only after discussion with the surgical team.
two wide bore needles vascular access before inserting the Stabilisation with sandbags on either side of pelvis is useful
drainage tube as sudden release of accumulated blood could till orthopaedic team takes over the management.
release the tamponade effect and promote severe bleeding.
Limb Injuries
In acute respiratory distress due to haemopneumothorax,
immediate needle thoracocentesis should be done prior to Blood loss can be considerable for long bone injuries
intercostal drainage if there is only one rescuer available. and circulation should be taken care of once A and B are
Some practitioners prefer using the Seldinger technique for satisfactory. Emergency action is required for neurovascular
chest drain insertion. compromise in conditions like angulated or displaced
Paediatric Emergencies 637
C H A P T E R
Disorders of Emotion
and Behaviour 31
disagreement about a pain of acute onset in the left upper
AN INTRODUCTION TO CHILD AND
abdomen or lower chest where a patient may be in a state
ADOLESCENT PSYCHIATRY
of collapse. One may vote for a myocardial infarct and
Knowledge of the emotional processes of child development another may claim an exacerbation of a peptic ulcer. Once
within a family, social and cultural context is essential in the abdomen is examined and the electrocardiogram (ECG)
paediatric practice. These factors have a primacy in this done, opposing views will be reconciled. With emotional and
chapter that may differ in many ways from others in this behavioural difficulties, it is often difficult to get further than
book. The disturbances discussed are generally not based the grouping of signs and symptoms to make a diagnosis that
upon easily defined "organic disease". Although, advances does not generally include an assumption of causation.
in brain scanning and neurochemistry are becoming more Some attempt to deal with this complexity is found in
relevant, it is only in a minority of these disorders that classification systems using different axes for different
laboratory investigations yield useful information. While aspects of a presentation such as the ICD-10 Multi-axial
there is a scientific basis to the measurement of symptoms Classification. The first axis in ICD-10 is generally related
like depression and there are real advances in quantifying to the presenting symptoms, e.g. encopresis or hyperkinesis.
parameters of family and social disturbance, the questionnaires The second axis offers a range of specific developmental
or rating scales used may appear less objective than most delays, e.g. reading retardation, developmental speech/
clinical investigations. In organic disease, there is usually a language disorder. Axis third deals with grades of generalised
primary cause such as an infective agent or a mutant gene. learning disability, labelled as "mental retardation". Axis
In psychological disorders, there is interplay of heredity fourth labels any associated physical disorder in the child,
and environment. Interaction within a culture, between the e.g. asthma or epilepsy. Axis fifth lists categories of
patient, the family and the school, contributes to the clinical psychosocial difficulty, including mental disturbances in
presentation. When a diagnostic formulation is reached, other family members, discordant intrafamilial relationships,
although there is a good evidence base for some treatments, inadequate or inconsistent parental control and familial over-
the management of disorder often varies in the hands of involvement. This axis also includes social transplantation,
different physicians or psychiatrists and some factors are stresses in school or work environment and other social
beyond the reach of medical intervention. The wide range of problems including persecution or discrimination. A sixth
knowledge that contributes to an understanding of emotional axis enables a rating to be made for the degree of disability
and cognitive development goes beyond the scope of this caused. It is only when all of these axes have been accounted
chapter. Some discussion of development is given in the for that a meaningful diagnostic formulation is produced.
context of an overview of the mental health problems and The skill of the clinician lies in deciding which factors are
psychiatric disorders that may present in paediatric practice. amenable to change.
There are difficulties in making a diagnosis of a While more severe disorders may require the involvement
behavioural/emotional disorder using the usual medical of a child psychiatrist, many can be dealt with by a family
model. Diagnosis in medicine depends partly on a collection doctor or paediatrician. Often problems presenting at clinics
of symptoms and physical signs fitting into a pattern that in the United Kingdom relate to normal stages of child
is recognised, but the quality of diagnosis improves when development, which are ill understood by over-anxious or
the aetiology can be proved. For example, there may be depressed parents. More severe and intractable symptoms
640 Hutchison's Paediatrics
may require a more detailed look at why a parent is finding one interview to complete. It is important to know about
the situation so difficult, and this may involve referral to the parents or the childs carers and also to obtain details
a specialist service. A parent, who is angry, distressed or about grandparents. Information about cultural factors, the
of limited ability, may be unable to take in and implement parents childhood experiences, social values and models
"good advice" until they see that the advisor has understood from families of origin, leads to an understanding of the
their difficulties. This process of listening and building-up childs problem within the extended family context. Social
an understanding of a childs problems in the family context inquiry includes details of peer group, education, housing,
requires inter-personal skills more than medical qualification. neighbourhood and finance. The potential impact of drug and
The complexity of presentations to specialist child and alcohol use by the patient or family members in the recent
adolescent mental health service (CAMHS) clinics requires a past and also during pregnancy should be explored.
range of approaches to understand them fully. The child and Apart from any physical examination determined by the
adolescent mental health team usually includes psychiatrically complaint, it is important to assess the childs emotional
trained nurses, psychiatrists and psychologists and may state. One notes the childs appearance, communication,
include occupational therapists, social workers, teachers, mood and self-esteem. The content and nature of the childs
child psychotherapists, speech and language therapists and free play or creative behaviour during the assessment may be
dietitians. informative. More detailed approaches to observation may be
The style of taking the initial history is important in indicated, for example one might make a modified adult style
making the shift from the childs presenting symptom to mental state examination or use structured observations, for
finding out what has actually gone wrong in the family. example looking at behaviours suggestive of hyperactivity in
According to the age of the child they may be seen on their the classroom.
own or with parents/carers, but the adult, who has usually Psychopathology in youngsters is often heightened by
initiated the consultation will require time to express their family conflict. Adult disharmony leads to inconsistent
concern. It is important to begin with clarity about the reasons methods of discipline, which predispose to behavioural
for consultation and the approach to be taken. Sometimes difficulty in the children. Children and adolescents
youngsters have been threatened with the clinic as a response can so easily be blamed or blame themselves for one or
to bad behaviour; they may sit in trepidation awaiting some other parents unhappiness. This can lead to anxiety and
imagined painful procedure. A child will usually talk readily depression, school phobia and other psychogenic symptoms.
about his or her interests, friends, school and relationships As there are so often difficulties in family relationships even
at home. A more direct discussion of the childs difficulties when there is an obvious physical component to the disorder;
may be achieved once a shared understanding is established some CAMHS clinics begin with a family assessment. In
between interviewer and patient. this situation, all members of the family living at home
An attitude of non-judgemental empathy will often enable are invited to a first appointment. The therapist joins the
a child or parent to move from describing the complaint to family, occupying one of a circle of easy chairs. The initial
feelings of despair and anger and then perhaps how unhelpful explanation involves an acceptance that the problem with the
other members of the family can be. For example, it is not child or adolescent involves all members of the family. The
uncommon for a parent of a child with unexplained pain to aim is to help the family discover where the difficulties are
move on to their own feelings of hopelessness and depression. so that, with the therapist, they can plan the changes needed
At the end of half an hour or so, there may be tears, perhaps to bring about a resolution. While family therapy techniques
about marital difficulties. Although the first part of the initial require special training, it is worth bearing in mind that
interview can be time-consuming, it may save hours later on. involving more than just one parent in the interview can
Having allowed this time, the interviewer may ask a wide often yield here and now information about the familys
range of questions, perhaps including details of the childs style of communication and the degree of mutual support
eating, problems with elimination, pain, levels of activity, available.
details about temperament and relationships, anti-social To complete an assessment, consent may be obtained
behaviour, sexual difficulties, episodic disorders and school to seek information from third parties such as teachers or
progress. The usual run through of systems, cardiovascular, social workers. When all this is drawn together a multi-
respiratory, gastrointestinal, neurological and urogenital axial classification can be completed. This should lead to a
are included as appropriate. The personal history pays formulation that summarises the various factors leading to
particular attention to pregnancy, birth and post-natal period, the childs presentation and leads to a plan of action. There
as well as details of personal and social development and may be a need for further assessment that could be medical,
the relationship between child and parents during these neurodevelopmental, psychometric, psychotherapeutic and
stages. The family and social history may take more than often involves further exploration of family relationships.
Disorders of Emotion and Behaviour 641
A range of treatment approaches exists. Some are thinks as if he/she is at the centre of everything and there
focused upon the child, such as pharmacotherapy and is little awareness of the needs of others. The toddlers
various forms of psychological therapy, of which cognitive timescale is poorly developed and there is little ability to
behavioural therapy has the strongest evidence base. Family tolerate frustration, to do it later, or wait until tomorrow.
interventions are common and the power of group based Temper tantrums are common and may be intolerable
therapeutic interventions, especially in adolescence is well- for parents who lack awareness of what is normal in this
recognised. Schools provide an opportunity for environmental developmental stage.
management and specific supports for learning. Community A baby can be put away in a cot for periods of time but a
projects are often geared to prevention and early intervention toddler is mobile. Rapid cognitive development makes for a
in support of parenting. At the other extreme, in-patient care huge interest in exploring an environment that was previously
and intensive out-reach or day services are used in the most inaccessible. Under these developmental conditions it is often
severe and complex disorders. a full-time job for the mother to keep the toddler safe and
There are social benefits arising from effective mental involved in learning social skills. Tables are pulled over, taps
health interventions in childhood. Not only may cycles of left running and electrical sockets interfered with. As speech
abuse and parental failure be broken down but also there develops there can be constant unanswerable questions,
is a prospect of reducing the progression of childhood loud singing or protests if visitors or siblings interfere
disturbance into adult disorder. For example, vulnerable with activities or social discourse with the parent. Where
children who present with anti-social behaviour may benefit the parent is feeling below par, perhaps living in a high flat
from the collaboration of health and social agencies in a co- where there is nowhere to go out to play or in an area which
ordinated approach to reducing the risk of adult offending. is clearly unsafe for youngsters to go out alone, the tension
mounts. Where 2 or 3 youngsters are vying for attention in a
PROBLEMS IN EARLY CHILDHOOD family, the parent may be reduced to shouting, smacking or
ignoring behaviour that requires attention or correction. In
Most people readily understand the bodily changes as children such circumstances, social programmes and parent support
grow. The changes involved in intellectual and emotional groups may be effective interventions. Although early
development are less easily comprehended. The development childhood problems are often understandable in this way,
of speech, with the skills of language amongst the complex a significant proportion of children presenting at this age
tasks of social communication is a crucial factor in further will have temperamental characteristics or developmental
learning and social interaction. A massive amount of learning disorders contributing to their difficulties.
takes place during the toddler years. By the time a normal Discipline should be firm, clear and consistent but also
child enters school he has a good grasp of language that reasonable. It should relate to the childs developmental
underpins the development of social and emotional behaviour. stage and understanding. A child will learn most easily when
Adverse environmental circumstances can retard physical they feel secure with their parent or carer. Prompt positive
growth and cause children to function intellectually below reinforcement with respect, praise and love is the best way
their potential, but the greatest effects of adverse family to modify behaviour. Punishment is not recommended but
relationships and social difficulties are generally upon if rewarding experiences are to be withdrawn this should be
childrens feelings and behaviour. The first year of life or carefully considered and quickly carried through to emphasise
infancy is largely to do with the relationship between the cause and effect. The more frequent the punishment the less
caring adult or adults and the child. The infant needs to be its effect and too often threats are postponed until behaviour
kept warm, fed, clean, cuddled and interacted with. The causes damage or an accident. Most importantly parents
beginning of shaping up vocalisation into speech involves must not be split, with one colluding with behaviour, which
eye-to-eye contact and social communication grows. A child the other is trying to correct.
should begin to feel secure in the knowledge of adult care A number of problems arise with failures of discipline.
and understanding of his or her needs. Important problems These include; feeding problems, temper tantrums, difficulty
can arise during early development. The initial attachment going to sleep and battles over toilet training. Sometimes
of infant and caregiver may be adversely affected by a child has particular difficulties that challenge the most
maternal depression or illness in the child requiring long competent parent, but by the time professional help is
hospitalisation. sought, parents have usually become quite inconsistent in
Pre-school behaviour problems usually start during the their management of the problem. Parents will often claim
next phase of emotional development. During this phase to have "tried everything". Similar themes are found in most
children may appear defiant and demanding. The toddler discipline problems, but each type has particular features.
642 Hutchison's Paediatrics
by disbelief. This may be helpful at times but sometimes Sometimes anxious parents make staff feel ill at ease but
its effect is that potentially successful treatment regimes are parents should be given their place. Close relationships may
not adhered to, particularly in adolescence. Thus, denial develop with some staff. The work is multidisciplinary and
becomes unhelpful when insulin injections penetrate the arm all members of the team should feel appropriately useful and
of the settee rather than the skin. Reaction formation occurs valued. Work will be stressful especially when children do
where there is opposition to the underlying feeling and there not recover, but morale is helped by regular discussion both
may be pressure on an ill child to achieve more than they case centred and more informally so that anxieties are shared
are easily able to do. For example, small vulnerable children and treatment goals sustained.
may need to be big and tough. Others may regress to infantile
and dependent behaviour. Some youngsters develop rituals EMOTIONAL DISORDERS and MEDICALLY
before treatment regimes and others dispel their anxiety in UNEXPLAINED SYMPTOMS
fantasy. In childrens hospitals, there are a lot of bandaged
teddies. Adolescents sometimes identify with medical staff Children express themselves in physical as well as
by taking an intellectualised interest in their disorder. psychological language and it is helpful to understand the
All of these defence mechanisms can be helpful as well as different terms used in such presentations. Various terms
destructive and if these defences fail too rapidly the youngster may be found in the literature and the confusion of language
may be overcome with anxiety, become severely depressed reflects the complexity of the topic.
or on occasion curl up in a foetal position and withdraw from Neurosis is a term used to describe predominantly psychiatric
treatment or refuse to eat. Guilt is anger turned inwards disorders that nevertheless may cause a number of worrying
with soul-searching as to how the disease or accident could and apparently "physical" symptoms including abdominal
have been avoided. Sometimes this leads parents to become pain, headaches and limb pains, which sometimes can be
depressed with an escalation of guilt and sometimes-morbid severe and disabling. Thus, appetite disturbance, nausea and
thoughts with sleep and appetite disturbance. The marital vomiting can be symptoms of anxiety.
situation can deteriorate and where one parent spends Somatoform disorders include a range of stress-linked
a long-time in hospital with the child, the other may be physical symptoms that may be the main presentation of
marginalised. Exhaustion and disruption of routine causes emotional disturbance. For example, somatoform abdominal
irritability and sometimes disagreements about the way the pain can be severe and although there is no real guarding or
child is managed. The siblings are also compromised in that tenderness, some children appear exquisitely tender or find
the parents do not always meet their basic emotional needs. it difficult to relax to have their abdomens palpated. It is
Case Study surprising how such pain can become localised to the right
A young child with a urinary tract infection was reassured that he iliac fossa or epigastrium when various doctors have made
would not need dialysis like his sister. In a temper, he slammed repeated examinations querying acute appendicitis or peptic
out of the room, saying, "Does that mean I am not getting the ulceration.
machine as well then". Psychosomatic disorder is a term sometimes used in illnesses
with a known organic causation, where there are changes
The predicament of a sick child affects the whole family
in tissue structure or function, but where the disorder or
and all should benefit from a realistic acceptance of the disorder
exacerbations of the disorder are partly or mainly induced
so that the child is neither over-protected nor expected to do
by stress. A number of illnesses can be included in this
more than he is able. To achieve such adjustment it helps to
category, for example some cases of asthma, migraine, skin
see both parents together. If the same person sees the parents
disorders or bowel problems.
on a number of occasions it is possible to check out what
they took away from previous interviews. However, bad the Cyclical vomiting syndrome, where attacks of prostrating
reality, a childs fantasy may be worse. In general, a childs vomiting occasionally needing intravenous fluids can last
questions should be answered directly, honestly and in a for 1 or 2 days, is a complex example, linked to migraine.
way that is understandable. School attainments are important As the child gets older, visual disturbance, photophobia and
as long-term disorders can interrupt education, which is a pulsating headache become more apparent and the vomiting
major determinant of adult outcome in chronic childhood less obvious. In some cases, the episodes are triggered or
disease. Sick children need discipline as well as care, which maintained by stress. Children with migraine disorders are
can be difficult for any adult. A team approach ensures that often normal between episodes and these are best regarded
communication is strong enough to avoid anxious parents as organic conditions, possibly with a psychosomatic element
inadvertently setting one professional up against another. but they are not neurotic disorders.
644 Hutchison's Paediatrics
Conversion disorders have been thought to involve the emotional disorder include sleep difficulties with anxious or
psychological mechanism of dissociation whereby the patient depressing thoughts keeping the child awake or preventing
is not connecting emotions with experience and is unaware him/her going to bed. Early wakening which is usually
that the symptom is other than organic. Conversion symptoms regarded as a symptom of endogenous depression can also
include some disorders of movement, apparent paralysis of occur, especially in older children. Poor concentration is
limbs and psychological seizures. Children presenting with frequently present and may have gone unnoticed in school,
these disorders may be in some kind of an emotional trap as children with emotional disorders do not usually present
or predicament. Where conversion is suspected one should a behavioural problem in the classroom. Tearfulness, over-
look at all aspects of the childs life situation and find out sensitivity, agitation and irritability are common. Anxious
what purpose the symptom is serving or how it is protecting toddlers and young children are unsettled and on the go
the child from whatever happens if the symptom goes away. and may be thought to be hyperkinetic. Where depression
Episodes of vomiting may keep together parents who are predominates the youngster will admit to feeling bad and
on the verge of separating. A girls sore tummy may be guilty and sometimes overwhelming feelings of wretchedness
stopping her highly esteemed father from trying to have can be associated with stealing, tearing up promising work,
sexual intercourse with her. The astute clinician sometimes being unable to accept praise and wanting to die. In pre-
sees something symbolic in the presenting complaint, as it school and young primary children, the ultimate depressive
is not just chance that certain symptoms are unconsciously thought seems to be separation and abandonment from the
selected. parents or those looking after them. Emotional disorders
"Medically unexplained symptom" is a description that helps occur in at least 2% of the population of late primary school
to avoid problems in categorising such disorders. There are children. Feelings of guilt leading to suicidal ideas have to be
several pitfalls in attempts to distinguish the origin of such checked out in the older primary school child and certainly
symptoms. Some symptoms can be frankly goal directed with in the adolescent. One might ask, "Do you sometimes feel so
conscious awareness of the gain involved, but the diagnosis bad or unhappy that you would like to run away from home
of conversion disorder implies an element of dissociation or have a bad accident or die". A reply in the affirmative
or unawareness. A diagnosis of conversion requires a must be taken seriously and it is a myth that children who
satisfactory formulation of the childs difficulty, and is talk about harming themselves would not do so.
confirmed when attempts to ameliorate that situation bring Self-harming behaviour and attempted suicide are common in
about a considerable improvement in the disorder. Children adolescent populations although socio-cultural factors lead to
and families may resist a conversion diagnosis for many varying prevalence across communities. Such presentations
reasons and many find it hard to understand psychosomatic require urgent and careful attention to the range of individual
causation. Often there is dual pathology, e.g. psychological and family factors that may have preceded the event. It is
seizures are often found in children with epilepsy. Some cases important to look for treatable disorders such as depression.
of so-called psychogenic disorder turn out to have an organic Specific interventions may reduce the risk of recurrence and
basis when followed up. Unusual presentations of common address the underlying difficulties revealed in the crisis.
disorder and sometimes extremely unusual disorders can Phobic anxiety presents where there is a specific anxiety in
appear within the course of time. For example, peptic ulcers certain situations, e.g. thunderstorms, fear of dogs and being
are a more common cause of intermittent abdominal pain upset by insects. Often these fears are not generalised into
than perhaps one would expect and very rarely, peculiar other situations and the youngsters may in other ways be
panic attacks are due to cerebral tumours. Where there is quite emotionally robust. Specific psychological intervention
doubt, a decision about diagnosis is best made using both with the child can be most helpful. Phobias in children may
paediatric and psychiatric expertise with a capacity for joint be learnt from a parent, friend or relative. This is not always
review when there is continuing uncertainty. Where there is volunteered until asked about during a detailed history taking,
no organic disease identified it is possible to make progress but it is then useful to try and help the affected parents to try
through psychological interventions geared to the individual and overcome their own difficulties.
presentation without requiring precision on the mechanism of
Obsessive/compulsive disorder is characterised by feelings
symptom causation.
of compulsion to carry out some action or repeatedly dwell
Emotional Disorders on an idea that is difficult to resist. This leads to repetitive
rituals, e.g. hand washing which has to be performed time
Anxiety and depression often co-exist and may be missed and time again, despite the child and the parent wishing this
when they present in children, especially when expressed not to happen. Obsessive/compulsive disorders are more
through somatic symptoms. More psychological signs of common in children with neurodevelopmental impairments
Disorders of Emotion and Behaviour 645
and there is a genetic contribution to aetiology. In younger Emotional disorders can be triggered or maintained by
children, however, rituals can sometimes be a way of stresses affecting the child, especially in school or with
reducing anxiety, which may have its roots in disturbed friends. Bullying is often a hidden problem in schools and
family relationships, schoolwork that is too hard, or pressure stress may also arise if a child with specific learning difficulties
from friends. Toddlers and young children love repetitive is seen as lazy and ridiculed or punished when trying to do
games and songs. They can exhibit ritualistic behaviour as his/her best. Losses and separations can trigger depression.
part of normal development, e.g. needing to go round every Illness or death of an important family member may cause
lamp-post twice. These pre-occupations are usually short- a bereavement reaction in a parent for many months. The
lived unless re-enforced by an anxious parent, nevertheless parent is reluctant to discuss this and the child patient feels
it is important to remember that obsessive compulsive blamed when his carer is irritable and unresponsive.
disorders are not so rare and as they are treatable conditions Many children are resilient and can adjust well to stress
it is important to take parental concerns seriously. but some are more vulnerable due to constitutional factors
School phobia and school refusal are terms used for children and past experience. Stress may trigger a range of problems
who develop emotional or unexplained physical symptoms including adjustment disorders with conduct and/or emotional
in the morning before school. The symptoms ameliorate symptoms. Extreme stress can lead to post-traumatic stress
either when they have been at school for a while or when disorders with characteristic avoidance of possible reminders
the decision is made that they are too ill to attend. Often of stress, nightmares and sleep disturbance and some re-
symptoms are not due to a true phobia of school, but are experiencing of stress or "flashback" phenomena.
caused by separation anxiety about leaving home and parents. Classical adult presentations of depressive illness occur
Some school phobic children are depressed. Such children particularly in older children and young people. Bipolar
are often good achievers and although they may try to go affective disorder may have onset in adolescence but great
to school, symptoms occur to prevent this happening. Their care should be taken in the interpretation of symptoms in
parent or parents are much in evidence, worrying about making this diagnosis.
the childs pains, vomiting, or else being angry that he/she A small proportion of children have mixed conduct and
has failed to leave the home for school. These patterns of emotional disorder. These children are often brought up in
behaviour are totally different from truancy. disorganised, delinquent and socially deprived families with
patterns of anti-social behaviour. If they become depressed,
Aetiology of childhood emotional disorder is often multi- the symptoms are more likely to be difficult to contain
factorial and is frequently bound up with family relationships and control. Children exhibit outbursts of self-destructive
that may include elements that are genetically inherited. behaviour and anger with extreme sadness, guilt and feelings
In some cases, the mother of the affected child is frankly of hopelessness. Sometimes such a youngster will have trouble
depressed or very anxious. In the seclusion of a one-to-one in trusting adults and needs to be contained and controlled
interview, mothers will often begin to cry and disclose morbid due to the disturbed risk-taking aspects of their behaviour.
ideas. Doctors are thought to be missing a fatal disorder While it may be difficult to understand such emotional
in the child and depressive thoughts become unwittingly symptoms, some children are so frequently undermined and
projected onto the youngster. In school phobia, the parent put down by their parents, teachers and potential friends that
feels worn out by the daily decision whether to send the they can only see themselves as inadequate and hopeless.
child to school after being reassured he is physically well. Anyone trying to be nice to them feels like a phony. Children
Sometimes when asked, "Have you ever felt that you could often exhibit their feelings in the way they behave. A happy
not go any longer?" Mothers will disclose feelings of total child will be spontaneously bright, but a child who is feeling
hopelessness and frustration. If the child is asked if he/she bad will sometimes be unable to stop itself from doing bad
worries that their illness upsets the mother, they may burst things.
into tears. On questioning it emerges that he/she is worried First-line treatment of emotional disorders will generally
that mother cannot cope. Occasionally, the mother has said be psychological and family based for the younger child.
she can go on no longer and she may leave home or try to In older children and adolescents adult forms of treatment
"end it all". Separation anxiety is then only too real, the child are more likely to be used. There is good evidence for the
is scared to allow the depressed parent out of their sight, benefits of individual treatments, particularly cognitive
and the parent requires the child to be around to help her behavioural therapy, which combines behavioural principles
get through the day. Frequently there are associated marital with strategies designed to alter thought content. Medication
problems and the father may resent the over-closeness of the with specific serotonin reuptake inhibitors may be considered.
child and his spouse. The risks of heightened arousal and increased suicidality
646 Hutchison's Paediatrics
may outweigh the benefits of such antidepressants especially Attention to detail is important as false alarms can be caused.
in less severe disorders. Rarely treatment resistance in If there is no progress after 3 months, it is better to withdraw
this group of disorders can lead to complex interventions the apparatus assuming the child is not developmentally
including in-patient care. ready to benefit.
Antidiuretic hormone, in the form of nasal spray or oral
ELIMINATION DISORDERS preparations, leads to symptomatic improvement. One should
be cautious if there is any renal or cardiac problem. Tricyclic
Enuresis antidepressants are as effective but have side-effects and are
Enuresis refers to the persistent involuntary or inappropriate very dangerous in overdose. Bed-wetting often recurs when
voiding of urine. This can occur while the child is asleep drugs are stopped, unless the child has grown out of the
(nocturnal) or during the day (diurnal). The disorder may problem during the time of the prescription.
have been lifelong (primary) or come on at a later stage
(secondary). It is often useful to think of primary enuresis Encopresis
as a developmental delay, but like secondary enuresis it Faecal soiling without physical cause is known as encopresis,
may have many physical causes. Nocturnal enuresis is a sometimes it is most helpfully understood as a developmental
commonly occurring disorder that affects approximately 10% delay. Soiling may be continuous or discontinuous.
of United Kingdom children at the age of 5 and 5% at the Continuous soiling occurs where the problem has always
age of 10 with 1% or 2% continuing to wet throughout the been present. Affected children may come from families
teens. There is frequently a family history and it is usually with low expectation, poor motivation and inconsistent
a mono-symptom with emotional factors being secondary. attempts to start toilet training. Such families have other
There is an increased incidence of wetting amongst children social difficulties and the carer may have a background with
with child psychiatric problems, but no correlation with any poor models of parenting or be depressed and pre-occupied
specific emotional disorder. Enuresis more often occurs in with other problems in the family.
children in poor social circumstances where early training has
Discontinuous soilers may have been satisfactorily trained
not been established. Some children have had disturbing life
or may have been especially early trained in bowel control.
events at the time when night-time bladder control should be
A way of looking at the mechanisms and family attitudes of
acquired and the symptom is more frequent in children with
children with discontinuous soiling is to look for signs of
other developmental delays and with encopresis. Nocturnal
regressive behaviour or an aggressive toileting situation.
enuresis is not primarily a child psychiatric problem and is
generally managed by families with primary care support Regressive soilers are usually reacting to stress and anxiety.
or in specialist nurse led clinics, with referral to CAMHS Stresses arise within the family and may be made worse by
clinics restricted to cases where more complex problems the effects of soiling leading to a vicious cycle. Children
are suspected. Associated urinary tract problems and other feel criticised and scapegoated and some have been harshly
medical problems are unusual but should be borne in mind disciplined when they are soiled. The soiling may not be
and investigated as necessary. the only developmental milestone that has slipped back. The
The simple technique of uplifting a child when the parents child may be clingy, withdrawn and exhibit toddler-like
go to bed sometimes solves the problem at a practical level. temper tantrums. Such children are often difficult to engage
The use of star charts should be reserved for those children in play and sit dull, poorly motivated and emotionally flat.
who wish to fill them in. All too often there is an expectation Discussion about the bowel problem is useless at first as the
that the star chart will work and when it does not there is loss mental mechanism of regression switches off understanding.
of face for the child, the parent and the doctor. Where angry Aggressive soiling, the parent may at first describe
feelings underlie the problem the chart will merely emphasise reasonable attempts to toilet train, but if sufficient interview
difficulties, which may or may not please the youngster. If time is allowed, one becomes aware of considerable tension
the child has regressed the chart will be meaningless. The and anger regarding soiling. All too often a youngster
chart can imply that the child has voluntary control; to be dry is expected to perform by a harassed mother in a setting
is "good" and to have accidents is "bad". Some children who where relaxed toilet training cannot occur. The child may
wet are quite depressed and for them it feels appropriate to respond negatively and, either voluntarily or involuntarily,
be smelly, damp and chastised; the chart may reinforce these retains faeces. Megacolon is frequently associated with this
feelings. situation.
The best behavioural treatment is the enuresis alarm, Megacolon is a physical disorder that must be suspected
designed to wake the child when voiding commences. in any child with a history of intermittent, runny stools
Disorders of Emotion and Behaviour 647
often with a fusty acrid smell, with overflow incontinence, Where ongoing psychological treatment for soiling
especially if there is an intermittent history of extremely large is needed it may be best to delegate physical treatment to
bowel evacuations. The condition is frequently chronic with a separate paediatric clinic. Therapy is undermined if the
impaction of large faecal masses associated with dilatation of therapist plays the dual role of doctor and psychotherapist.
the rectum and colon. The bowel becomes flaccid and unable A pre-school toddler, who soiled in anger, attacked a Daddy
to pass stools in the normal way. As the situation progresses doll during therapy, buried him in the sand and beat the sand
the child completely loses any sensation of needing to down with a shovel. The Mother doll was also given a hard
go to the toilet. It is often difficult to weight the physical time for sending the Daddy away. After 30 minutes of this
and emotional maintaining factors. Children with lack of distressing anger it would not feel right for the therapist, let
continence are not always treated sympathetically, because alone the child, for the session to be followed by the therapist
adults think the cause is behavioural whereas the child has no giving the child an enema.
bowel control. Occasionally an anal fissure compounds the
problem. Often family psychopathology appears secondary BEHAVIOUR DISORDERS
to physical problems and careful medical assessment is
required. The details of such assessment and treatment Attention Deficit Hyperkinetic Disorder
are outwith the scope of this chapter. Dietary advice to
increase fibre and fluids may be helpful. Laxatives of various Many people believe that attention deficit hyperkinetic
kinds are the mainstay of management, but enemata and/ disorder (ADHD) is a straightforward condition manifested
or suppositories may be needed and rarely surgical manual by motor restlessness, distractibility, poor concentration,
evacuation is required. impulsivity and labile mood. The simple explanation of
this disorder is caused by brain dysfunction and elegantly
Case Study responds to Methylphenidate is much too neat and tidy a
A 9-year-old boy, sexually abused as an infant, lived with adoptive concept which bears only a limited relationship to the
parents. His discontinuous soiling had become entrenched and assessment of badly behaved, inappropriately controlled and
he had developed a megacolon. Attempts at paediatric treatment under-stimulated children who are referred to paediatricians
were complicated by his emotional reactions and adoptive and child psychiatrists. As knowledge of developmental
parents feeling of failure. The family benefited from an approach neuro-psychiatry has increased, so the simple story has seen
that carefully presented the problem of megacolon in a cartoon to be flawed. It is important to realise that hyperactivity is not
form that the child could understand. As the child engaged with simply a manifestation of brain impairment. It is unlikely that
therapist and adoptive parents in the task of "beating his problem hyperkinesis is a unitary condition and various aetiological
poo" his adherence to a laxative regime and toileting programme theories have been put forward.
led to slow bowel retraining taking around 6 months. Specific learning difficulties not explained by global
In encopresis where there is no megacolon and where the retardation are common in children with ADHD.
child passes a normal consistency stool at regular intervals, Occasionally, ADHD may follow brain damage that is
there seems little value in using laxatives routinely. Excessive identifiable on scanning. This is a recognised outcome of
use of laxatives impairs function of a healthy bowel. A low birth weight and is found in conditions arising from
behavioural approach with the use of a star chart and simple intrauterine adversity, such as foetal alcohol syndrome. The
educative advice may be helpful to a child who has not infants brain is both vulnerable and plastic with an enormous
received basic toilet training. If a chart recognises success, capacity for function to develop in spite of areas of damage.
but not failure this reduces false expectations. Positive Such damage may be generalised rather than localised, e.g.
reinforcement is always more acceptable than a programme by anoxia, so that it is reasonable that some years on the
that increases the parents anger or discourages the child effects of damage will be manifest by impulsivity and labile
especially where there is no voluntary bowel control. If mood. The parents of children with ADHD have increased
possible, the child and family should be brought together as rates of alcoholism and sociopathy when compared with
allies with the therapist in tackling the problem of soiling, the relatives of normal children. Theories of disorders of
which is helpfully thought of as a problem that is external to monoamine neurotransmission are well supported and
the child and family and nobodys fault. Where the child is genetic effects have been robustly demonstrated, but the
under considerable stress, or where there is too much anger constitutional basis for this disorder remains unclear. While
for co-operation with treatment, it may be helpful to review specific factors in heredity, pregnancy, delivery or neonatal
wider issues of family relationships. Psychotherapy often in period may correlate with dysfunction; it can be difficult to
the form of play therapy for the child can be helpful. confirm such links when dealing with individuals.
648 Hutchison's Paediatrics
withdraw from a world, which increasingly depends on social semantics (the construction of meaning) and pragmatics (the
interaction through language. Children with severe receptive use of language in social interaction). There appears to be
disorders require special education so that a language can increased recognition of this disorder as more subtle social
be build-up with stimuli presented through visual or tactile impairments are identified and labelled.
routes. Atypical autism is a term that is sometimes applied to
Autistic spectrum disorder (ASD) is a concept that children with marked autistic features who do not fulfil
provides a useful way of thinking about various more severe criteria for another diagnosis, especially where there is
disorders of communication that in ICD-10 are categorised as learning disability.
pervasive developmental disorders. The core of the difficulties Retts syndrome is a rare genetic disorder leading to
faced in ASD lies in the autistic triad of impairments autistic regression with a characteristic pattern of abnormal
of communication, social development and behavioural hand movements.
rigidity. The recognition of ASDs is the first step towards
ensuring that such children achieve their developmental DISORDERS WITH MOTOR PRESENTATIONS
potential. Specific treatments have a limited evidence-base,
Children may present in paediatric clinics with a range of
but early supports for parents, later educational and social
motor disturbances that are best managed with the skills of
interventions, individually tailored, can reduce the impact of
a child psychiatrist. Repetitive stereotyped movements are
a childs impairments.
common features of autism and may need to be distinguished
The signs of infantile autism usually present within the
from self-stimulating behaviours, which are also common in
first 30 months with abnormal responses to both auditory and
developmentally impaired children. Tics are rapid repetitive
sometimes visual stimuli. Speech is delayed and if it begins
movements that are driven by an internal compulsion that
to develop it tends to be echolalic and later lacking in ability
older children may describe as "like an itch", they are often
to use abstract terms. Autistic children appear detached
self-limiting. Tics are usually motor phenomena, but can
socially and classically there is impairment of eye-to-eye
also be vocal, such as grunting or throat clearing. It can be
contact and lack of ability to relate meaningfully to parents
helpful for children and families to understand that tics are
or age-mates. Autistic children frequently resist change and
basically involuntary although some children may learn to
may have catastrophic rage reactions for minor causes, e.g.
control some of their manifestations.
if an item in a room has been moved or if their transport
Tourettes syndrome is diagnosed when both motor
to a school goes by an unusual route. Routines, rituals and
obsessional behaviour are commonplace and if the disorder and vocal tics occur for a sustained period; vocal tics may
improves patterns of logically concrete thinking emerge with progress to explosive and sometimes culturally unacceptable
a lack of social empathy. utterances. In themselves tics rarely require treatment
There are a number of theories of possible aetiology. The but when they cause significant impairment a child may
disorder is male predominant, but not X-linked. Whereas benefit from psychological therapies or one of a number of
in the past family influences were suspected it now seems medications, of which clonidine or guanfacine are the least
clear that genetic factors are highly relevant, with multiple likely to cause harmful long-term side-effects. Tourettes
interacting genes and high heritability. Associated medical syndrome often co-exists with obsessive/compulsive
disorders (e.g. specific disorders of the brain such as tuberous behaviours or attentional problems and in a few children
sclerosis) are found in more than 10%. Better prognosis is these difficulties may be triggered by group B streptococcal
found where there are no signs of severe learning disability. infection associated with Sydenhams chorea. The
Many require ongoing family, educational and social support fascinating hypothesis that a range of psychiatric symptoms
with only a minority achieving more positive adjustment. A may be triggered by streptococcal disease without associated
few truly gifted individuals achieve great success in areas neurological signs reflects increasing interest in autoimmune
less dependent upon their areas of difficulty, for example as processes within the nervous system.
musicians or scientists. Motor over-activity is a core feature of ADHD, but
Aspergers syndrome has been conceptualised as high symptoms of motor restlessness or of immobility can more
functioning autism, but this may be misleading as the social rarely be seen in childhood affective states and psychosis,
deficits of this condition can be as disabling as in infantile including rare cases of childhood catatonia. Awareness of
autism. The criteria for diagnosis of Aspergers syndrome the link between specific disorders of motor development
in ICD-10 are open to debate, but the syndrome differs from (dyspraxias) and other developmental and psychiatric
infantile autism in that the level of speech and language disorders should lead to careful global assessment when
impairment is much less obvious. Such children will still problems in areas such as co-ordination and visuospatial
have marked impairments in language in areas such as capacity are identified.
652 Hutchison's Paediatrics
PROBLEMS OF LEARNING is true. It is not surprising that such children may feel
despairing and only careful attention to their specific needs
Many disorders can directly or indirectly affect learning. will offer a way forward. However, the term "dyslexia" can
Children with emotional disorders are frequently anxious give rise to confusion. Worried parents can be fearful that
and depressed. They find it difficult to concentrate in class dyslexia is some frightful illness; others may use this as an
if they are preoccupied by feelings of worthlessness and explanation for a school failure that is rooted in other factors.
are worrying that their mother or father may be unwell or The problem about this label is that it does not describe the
in the process of separation. Their distress and falling off precise nature of the underlying learning difficulty. Many
of attainments may be missed by the teacher who is more professionals prefer to describe the nature of the problem in
preoccupied by disruptive behaviourally disturbed children. functional terms.
Somatic symptoms, including abdominal pains and headache, Three cognitive processes are often found to be affected
lead to frequent school absence and the continuity of learning in specific reading retardation. The first is a problem of
is lost. short-term memory or a sequencing difficulty. This may be
A child with a chronic or relapsing illness may find learning associated with difficulty of recall of information obtained
difficult because of malaise, pain, repeated time consuming through the auditory route, or the problem may be in recalling
or traumatic medical treatments and due to time lost from material, which has recently been read from writing or print
school. The side-effects of medications, e.g. anticonvulsants (e.g. a person can be told a telephone number and not recall
are important causes of cognitive impairment. it, whereas they can retain the same number read from a
Attainments are frequently poor in conduct disordered book or vice versa). The second major difficulty is with
children. The causes are multi-factorial. In areas of social spatial ability, for example some children have enormous
deprivation, parents attitude towards education is not always difficulty in learning left from right. The third problem area
positive, homework is not encouraged and there is no space may be visuomotor or perceptual difficulties. This is often
to work in overcrowded, noisy, disorganised households. A associated with problems of putting thoughts into legible
youngster, behind with his attainments is frequently criticised writing and decoding information from the written page. In
by teachers. If the child believes that he cannot learn, his some instances, a child may acknowledge that his written
motivation will be adversely affected. A mental process page is full of mistakes, but be unable to correct them.
guarding against depression and poor self-esteem is to blame Severe dyslexic problems may overlap with mild
the system. It is safer to reject the school and denigrate the communication disorders and specific learning difficulties
teachers than to accept criticism. This attitude can become can be found in association with hyperkinesis or in children
the group norm and outshining truanting colleagues with who are clumsy with poor motor control. Three disorders,
anti-social behaviour can preserve self-respect. Under these namely: (1) ADHD, (2) specific learning difficulty and
conditions school attainments fall further and further behind. (3) specific disorder of motor development (dyspraxia)
In a number of cases, constitutional difficulties with are sometimes grouped together. Aetiological theories are
attention, concentration or more specific learning skills covered above in relation to ADHD.
precede behavioural difficulties. Where such difficulties Severe head trauma, cerebral tumours and other
are not discovered and educational help is not given, a forms of brain injury in childhood may impair learning.
childs self-esteem and motivation worsens and the situation Intellectual abilities may appear remarkably intact after
escalates. marked anatomical damage has occurred, especially if early
Specific learning difficulty is described when children in the childs life. However, such brain-injured children
with otherwise normal developmental capacity demonstrate may become more obviously disabled as the demands of
defined problems in one area of learning or development, development outstrip their capacity.
e.g. dyslexia is specific reading retardation and dyscalculia A child who has problems affecting all aspects of cognitive
a similar problem with numbers. There has been enormous development is described in ICD-10 as "mentally retarded"
pressure from some professionals and parents to get although groups in the United Kingdom have campaigned
such problems recognised by teachers. Specific learning effectively for the term "learning disabled" to be used as
difficulties may present with depression or conduct disorder. it is less stigmatising. Stigma is compounded when a child
Impressed by a youngsters unhappiness or suicidal ideas, it looks dysmorphic or has an associated movement disorder.
is all too easy to miss the underlying stress of a child trying Learning disability generally does not have an identifiable
his/her hardest and never being able to succeed at school. cause but various aetiologies are recognised. The commonest
If a child does not have the innate ability to cope with an single cause is chromosomal disorder, e.g. Downs
aspect of learning it is often wrongly assumed that extensive syndrome. There are a number of genetic disorders where
practise will improve the situation but often the converse an inborn error of metabolism can be proven; for example,
Disorders of Emotion and Behaviour 653
Wilsons disease, which is a defect of copper metabolism and the child has to say. Although children can be regarded
the mucopolysaccharide disorders, which are progressive. as manipulative, it is very unusual (but not unknown) for
Screening at birth allows for intervention to prevent the children to disclose abuse that has not actually occurred.
insidious mental retardation resulting from phenylketonuria They are more likely to remain mute or ill at ease in order to
and hypothyroidism. Children born with neurological protect their perpetrators.
impairments, such as spastic hemiplegia, frequently have If sexual abuse is suspected, it is important that
learning disability. There are many rare medical causes of arrangements for paediatric examination give due weight to
deteriorating cognitive capacity or dementia in childhood. the emotional needs of the child. Provision of special units
with quietness and appropriately comfortable furnishing is
WORKING WITH SOCIAL SERVICES AND POLICE helpful. In this setting, full explanations can be given and
Professional responsibility in dealing with children includes trust built-up between the child and the examining doctor.
a responsibility to work within a legal framework governing The skills of being frank and open at a level the child can
the acceptable treatment of children as well as attending to understand, seeking the childs permission and talking
the childhood roots of adult criminality. It is important that them through the examination go some way to reducing the
doctors familiarise themselves with the social arrangements secondary emotional damage from the fear resulting from
and statutory procedures for liaison with social work disclosure. Attempts to tussle with the child to perform a
departments (or their equivalents) and where necessary physical examination must increase the horror of abuse. If a
with the Police and the Courts or equivalent legal bodies. In parent or relative has been the perpetrator and then doctors
Scotland, the childrens hearing system is designed to attend remove the childs clothes and intrude into the childs
to youth offending as well as child welfare in the under personal space, it must seem as if no adult can ever be trusted
eighteens. again.
In certain circumstances, a professional opinion is sought Although dialogue with the child or interpretation of his/
in relation to severe offending behaviour in children. Adult her behaviour sometimes leaves little doubt to the clinician
approaches to forensic examination need to be modified to that abuse has occurred, the legal system is not always well-
take account of developmental factors and the influence of equipped to cope so that a number of cases are not proven
family and social factors must be acknowledged. Careful with resulting further difficulties for those managing the case.
notes should be kept of forensic interviews and examinations. Perhaps most difficult of all are the categories of emotional
Cultures vary in their attitude to anti-social behaviour in abuse and failure to thrive where the parents contest the need
childhood but it is generally accepted that the younger the for intervention. Close co-operation is required across the
child the more their behaviour must be seen in the context of agencies involved.
age. Punishment may then seem less important than attempts Factitious and induced illness (FII), formerly known as
to intervene to reduce the risk of further offending. Munchausen Syndrome by Proxy or Meadows Syndrome,
Physical abuse is often relatively easy to recognise is described when children are repeatedly brought to hospital
and prove, while sexual abuse may be devoid of physical with symptoms which tempt the physician or surgeon to
findings. The signs that arouse suspicion of sexual abuse subject the child to numerous investigations, sometimes of an
are now legion. Apart from obvious trauma, infections or increasingly intrusive, traumatic and expensive form. While
pregnancy, there is an increased incidence of psychogenic many anxious parents unwittingly subject their children to the
pains, often abdominal, and conversion symptoms that may effects of their anxiety and over concern; in FII the problem
indicate that a child is under stress which is too difficult to is that the parent is usually doing something actively to
go on tolerating and too difficult to be disclosed. A range produce the childs symptoms. Mothers have used their own
of psychiatric symptoms may occur or be made worse as a blood to contaminate a childs urine specimen to precipitate
result of abuse. investigations for haematuria and anoxic seizures have been
The way in which the child behaves should be noted. deliberately produced by mothers partially suffocating their
Abused children may be fearful of adults and appear children. Such problems may be more likely in medical
apprehensive or withdrawn; particularly where circumstances systems where care is compartmentalised by specialty
recall the abuse, e.g. a male doctor reminds the child of a and consideration of psychosocial mechanisms neglected.
male abuser. If a child is taken to a playroom and cowers in Surgical intervention or complex treatment regimes may be
the corner when the therapist closes the door this can be very set-up but the problem fails to resolve. Mothers of children
revealing. Children often replicate confusing or worrying with FII often have personality disorders. They are often
incidents in their play. Childrens drawings may also indicate co-operative, adapt well to ward routine and are well-
fears of sexual objects or sexual knowledge beyond what is acquainted with hospital, where their emotional needs may
age-appropriate. Most of all it is important to listen to what be met. It is difficult to empathise with their psychopathology
654 Hutchison's Paediatrics
and dissociation may be present. The ability to play the 2. Green C. New Toddler Taming: The Worlds Bestselling
competent caring mother and yet behave destructively Parenting Guide. Vermilion; 2005.
in order to gain input from doctors and nurses is hard to 3. Goodman R, Scott S. Child Psychiatry: Key Facts and
comprehend. Confrontation is often not met by an admission Concepts Explained. Blackwell Publishers; 2005.
of guilt and it is important that appropriate child protection 4. Turk J, Graham P, Verhulst F. Child and Adolescent
orders are sought. Sometimes after confrontation the parent Psychiatry, A Developmental Approach. Oxford University
Press; 2007.
may decompensate. A needy, distraught mother feels she
5. Rutter M, et al. Rutters Child and Adolescent Psychiatry,
has failed once again. Adult psychiatric intervention may
Wiley-Blackwell; 2010.
be necessary as depressive feelings are mobilised when the
mechanism of dissociation is broken down. Background Reading
Acknowledgements 6. Illingworth RS. The Normal Child, 10th edition. Churchill
Livingstone; 1991.
The authors wish to acknowledge the published work of RS 7. Fadiman A. The Spirit Catches You and You Fall Down.
Illingworth and DW Winnicott, two paediatricians whose Farrar, Straus and Giroux Inc; 1998.
influence has shaped medical practice in support of children (The experience of childhood epilepsy amongst the Hmong
and young peoples mental health. Chinese in USA).
8. Haddon M. The Curious Incident of the Dog in the Night-
time. Vintage; 2004.
FURTHER READING
(Growing up with Aspergers syndrome in England).
9. Dangarembga T. Nervous Conditions. England: Ayebia
Reference Works
Clarke Publishing Ltd; 2004
1. Garralda E, Hyde C. Managing Children with Psychiatric (Developing eating disorder symptoms, caught between
Problems. London: BMJ Books; 2002. cultures in Africa).
Sanjay V Maroo, Sandra J Butler
C H A P T E R
Paediatric Radiology 32
GENERAL CONSIDERATIONS IN PAEDIATRIC achievable, with economic and social factors being taken
into account.
RADIOLOGY
Medical diagnostic X-rays represent the largest source
General considerations in paediatric radiology are as follows: of radiation exposure resulting from human activity. The
Imaging has assumed an important role in the diagnosis, greatest source of background radiation is radon gas, a
understanding and in certain cases, treatment of paediatric decay product in the uranium series.
diseases. Imaging modalities which deliver ionizing radiation are
The availability of many imaging modalities [plain plain films, fluoroscopy, CT and isotope studies. The
film, ultrasound, computed tomography (CT), magnetic modality which delivers the highest dose is CT and use
resonance imaging (MRI), nuclear medicine, angiography, of this modality is increasing with children (015 years)
single photon emission computed tomography (SPECT) receiving 11.2% of all CT examinations.
scanning] requires problem-oriented decisions to All effective methodologies to reduce radiation exposure
determine which techniques should be used or omitted in in children should be employed. These include tailoring
any given clinical situation. the examination to the child, adjusting technical factors
The radiologist plays a central role in the diagnostic imag- for plain films, using pulsed fluoroscopy, screening of
ing process and is actively involved in formulating an CT examinations, and utilizing other modalities which do
appropriate pathway of diagnostic evaluation to maximize not involve ionising radiation like ultrasound and MRI.
the benefits from any imaging examination. Radiology consultation should be obtained to obtain a
Adequate clinical information should always be available proper test. Factors utilized in determining the best test
on the radiology consultation in order to determine, what, include sensitivity in diagnosis, cost, timeliness and safety.
if any, imaging modalities are indicated for diagnostic Dose may be decreased by performing only examinations
evaluation. that are clinically indicated.
Open communication between the referring physician
and the radiologist improves quality of patient care. IMAGING MODALITIES USED IN
There is no place for routine radiological examinations. PAEDIATRIC IMAGING
Chest: Frontal and lateral helps determine extent of disease. Recent advances in CT
Abdomen: AP and software technology now allow CT imaging in a volume
of tissue such as the abdomen in less than 5 seconds and also
Pelvis: AP
enable reconstruction of the image in any plane including
3-dimensions.
Contrast Media
A major disadvantage in children is the radiation dose.
Contrast media are externally administered agents used to pro-
vide positive or negative contrast in certain areas of the body. Magnetic Resonance Imaging
Areas where contrast media are frequently used include gas-
Magnetic resonance imaging uses a strong magnetic field
trointestinal tract, genitourinary tract, and the vascular system.
and radiofrequency energy to generate a synchronised
Barium compounds (Barium sulphate) are used for routine
precessional motion of protons in body tissues.
gastrointestinal studies. Water soluble iodinated compounds
An MRI image reflects the distribution of protons in the
are used for assessing the gastrointestinal system in emergency section of the body.
cases or where perforation is suspected, for the genitourinary Applications of MRI are gradually increasing in
system, the cardiovascular system and CT scanning. Water paediatrics. Reasons include lack of ionising radiation,
soluble contrast agents contain iodine. Low osmolar iodinated multiplanar capabilities, superior contrast resolution and
contrast media should be used as a routine. High osmolar con- the ability to image blood vessels without using intravenous
trast media can have a profound effect on serum osmolality
contrast agents. In addition to illustrating normal and
and the haemodynamics status of infants and children. pathologic anatomy magnetic resonance imaging (MRI) is
also used to assess chemical composition and tissue perfusion.
Fluoroscopy Disadvantages include need for sedation or anaesthesia in
Indications include gastrointestinal, genitourinary studies, younger children and the examination is contraindicated in
ortho paedic procedures, and diagnostic angiography and children with pace makers and certain implants.
du ring IGT procedures. Image intensification is necessary for
fluoroscopy of children and most procedures usually involve Radio Isotope Studies (Nuclear Medicine)
contrast medium administration. Techniques reducing radia- The imaging energy source for scintigraphy is the isotope
tion doses in children without any significant loss in image attached to a radiopharmaceutical injected into the body. The
quality include pulsed fluoroscopy, last image hold and colli- detection system, a gamma camera, uses a collimator and
mation. photo-multiplier tubes to detect the gamma rays emitted from
the body to a scintillation crystal. The raw data from the
Ultrasound scintillation crystal then yields a raw image after computer
Ultrasound is ideal for imaging children for a number of reasons: reconstruction and signal processing. Most radio isotopes are
Uses no ionising radiation injected intravenously and the functional information provided
Sedation is almost never required by scintigraphy often complements the anatomic information
There is no evidence that energy levels of diagnostic provided by anatomical studies and may provide the only
ultrasound used in humans are harmful to humans imaging evidence of pathology. Radiopharmaceuticals are
Examination can be performed at the bedside in sick given in small doses and are relatively innocuous, i.e. they
children do not produce significant pharmacologic, haemodynamic,
Paucity of fat in the paediatric abdomen and the smaller osmotic or toxic effects. Radiation exposures from their
size of the patient allow detailed visualisation of the use in diagnostic imaging usually fall in the lower range of
abdominal anatomy. radiation exposures from common radiological examinations.
Indications include intracranial examinations in neonates, The technique has high sensitivity but low specificity.
urinary tract infections, abdominal pathology, scrotal condi- Common radio isotopes include 99mTc DMSA, 99mTc
tions, anomalies of soft tissues, and certain chest conditions DTPA, and 99Tcm MDP.
and for interventional procedures.
Image Guided Therapeutic Procedures
Computed Tomography A steady increase in non-vascular and vascular image guided
Computed tomography uses a radiation beam that is highly therapeutic (IGT) procedures has occurred in the last decade.
collimated through one cross-sectional slice of tissue from This increase stems from the growing recognition that many
different angles. The data is then computed to record X-ray paediatric interventional procedures like their counterparts
absorption in a specific volume element which is then in the adult world can achieve the same results as surgery
converted to an image. CT has high spatial resolution and without being as invasive and usually with less morbidity and
demonstrates anatomy as a two-dimensional image which more rapid recovery.
Paediatric Radiology 657
Fig. 32.1: Viral pneumonias are mainly small and large airway disor- Fig. 32.3: Bacterial infections present as lobar or segmental
ders and radiological findings are due to partial and complete airway consolidations or fluffy infiltrates. Even though consolidation may be
occlusion leading to atelectasis and hyperinflation. Chest radiograph in extensive, volume loss may be minimal .The organisms are commonly
a month old baby with viral pneumonia showing hyperinflation and atel- Haemophilus influenzae in infants less than 2 years and Streptococcus
ectasis of the lingua (seen as effacement of the left heart margin) and the pneumoniae in older children. Chest X-ray (CXR) showing segmental
middle lobe (seen as effacement of the right heart lobe) consolidation in the left upper lobe with air bronchograms (white arrow)
658 Hutchison's Paediatrics
Fig. 32.4: A round pneumonia (arrow) is seen exclusively in children, Fig. 32.6: An autosomal recessive error in chloride ion transport
usually in the superior segment of the lower lobes. Consolidations in results in thick tenacious mucous. Clinical manifestations result from
the early phases may appear rounded and one should not be misled bronchiectasis, lung abscesses, air trapping, airway obstruction and
by their appearance which is strictly fortuitous. It can be mistaken for right heart failure. On chest radiograph early CF can be seen as hyper
a neoplasm but a history of an acute illness and the extreme rarity of aeration and bronchial wall cuffing. Mucoid impaction is seen as finger
such neoplastic lung nodules in children should confirm the diagnosis. like densities radiating from the hilum. Bronchiectasis is seen as tram
Causative organism is commonly Streptococcus pneumoniae tracks radiating from the hilum. Chest radiograph showing lung hyper-
inflation, patchy infiltrates and peribronchial thickening and dilatation
in a 11-year old patient with cystic
A B
Figs 32.8A and B: Airway obstruction by foreign body (FB) usually
affects toddlers and presents with stridor, wheezing, cough or pneu-
monia. The FB which can be radio or non-radio-opaque usually lodges
in bronchi (right commoner than left) and can obstruct the airway.
Total obstruction can cause collapse. Partial obstruction can cause
ball valve effect permitting air to enter but not leave the lungs. The
Fig. 32.10: Ultrasound scan in the same patient as above shows
affected side will demonstrate air trapping made prominent on expira-
debris in the pleural fluid
tion. (A) Inspiratory and; (B) Expiratory radiographs showing air trap-
ping in the right middle lobe on expiration (arrow)
Lung Abscess
Complications of Pneumonia Suppurative parenchymal complications represent a spectrum
of abnormalities and include cavitary necrosis, lung abscess,
Empyema pneumatocele, bronchopleural fistula and pulmonary gangrene.
The appearance of pleural fluid in the setting of pneumonia When lung first becomes necrotic, the necrotic tissue liquefies
suggests an empyema. Ultrasound (US) and CT scanning and forms fluid filled cavities. When portions of this necrotic
reveal helpful information such as depicting whether the fluid are expectorated via bronchial communications, the
effusion is loculated or free, clear or containing debris. cavities may fill with air. CT is more sensitive to earlier detec-
Image guided drainage can be done using ultrasound and tion of lung abscesses, can assess proximity to pleura and plan
fluoroscopy to accurately place the drainage catheter. drainage.
Fig. 32.9: CXR of a 6-year-old girl showing an opaque left haemitho- Fig. 32.11: CXR showing an abscess in the right lower lobe
rax due to a large empyema. Note the scoliosis concave to the left containing an air fluid level
660 Hutchison's Paediatrics
Bronchopleural Fistula
Bronchopleural fistula is identified on CT when a direct
communication is visualised between the air spaces of the
lung and the pleural space. There may be a chronic air leak.
Fig. 32.15: CXR on a premature baby with RDS done on day one
Fig. 32.14: CT scan in a patient with necrotising right lower lobe pneu- shows generalised underaeration of the lungs, reticulogranular den-
monia shows right basal consolidation (arrow) and a large right ten- sities caused by acinar atelectasis and air bronchograms (arrow).
sion pneumothorax (asterisk). The site of the fistula is shown by the Incidental note is made of the umbilical venous catheter lying at the
arrowhead inferior vena cava and right atrial junction (white arrow)
Paediatric Radiology 661
Pneumothorax
Bronchopulmonary Dysplasia
Bronchopulmonary dysplasia (BPD) is a distinct pulmonary
disease affecting the developing lung after prolonged respirator
or oxygen therapy of RDS. Also called chronic lung disease
of prematurity, the radiological findings include bubbly
appearance to the lungs, hyperaeration and cardiomegaly.
Fig. 32.23: Chest and abdominal film showing UAC (black arrow) in
distal thoracic aorta and UVC (white arrow) at the level of left portal
vein
A B
Figs 32.24A and B: Term newborns with MAS. (A) CXR shows asymmetrical lung hyperinflation,
patchy right basal infiltrates and areas of atelectasis; (B) CXR showing left and right upper lobe
atelectasis and right basal infiltrates
A B
Figs 32.25A and B: CXR in an infant with TTN taken day 1 (A) shows cardiomegaly and interstitial
pulmonary oedema. Follow-up CXR day 2 (B) shows almost complete clearing of the lungs
SURGICAL CAUSES
Fig. 32.27: CXR showing multiple cystic lucencies in the left hemitho- Fig. 32.28: Coronal CT reconstruction shows a CAM in the right
rax. There is mediastinal shift, which can cause progressive pulmo- upper lobe (arrow)
nary hypoplasia. Note the multiple air filled loops of bowel in the abdo-
men and the intraabdominal nasogastric tube tip
gradually fill with air giving a cystic appearance. The at which point the diagnosis becomes obvious. Progressive
radiological appearance can mimic diaphragmatic hernia. over distension results in air trapping and its consequences,
A helpful differentiating feature is the presence of air filled namely mediastinal shift, compression of normal lung or
loops of bowel in the abdomen. 10% of CAMs present after lobes.
first year of life, often with recurrent pneumonias. Common sites to be affected are left upper and right
upper lobes.
Congenital Lobar Emphysema
Congenital lobar emphysema (CLE) initially appears as an Bronchogenic Cyst
opacification of one lobe or the whole lung due to partial Usually arise from an abnormal lung bud from developing
bronchial obstruction causing retention of fluid. Over a foregut. The mediastinal form is usually asymptomatic
period of few days the fluid is resorbed and replaced by air but can present with respiratory distress if the major
A B C
Figs 32.29A to C: CXR (A and B) of a term neonate with respiratory distress. (A) Day 1 shows an opaque left hemithorax; (B) Day 2 shows a
hyperinflated left upper lobe (white arrow) and compression collapse of left lower lobe (black arrow); (C) CT scan on day 3 shows an emphyse-
matous left upper lobe and moderate mediastinal shift
Paediatric Radiology 665
airways are compressed due to gradual expansion over time. Neurenteric Cyst
The cyst is often subcarinal in location and can be mistaken
Faulty neural tube closure results in abnormal mesenchyme
for a duplication cyst.
leading to abnormal vertebral body formation and continued
neural connection with endoderm. The abnormality is found
most commonly in the thoracic spine with a cystic mass in
the mediastinum and segmentation anomalies of the spine
(butterfly vertebrae or hemivertebrae).
Fig. 32.31: CXR showing a soft tissue mass in the right hemithorax
(black arrow) and multiple segmentation anomalies of the thoracic spine
(white arrow). Differentials include a large intrathoracic meningocele
Normal Thymus
The thymus gland is found in the anterior mediastinum and
can have a variety of appearances. The 2 lobes of the thymus
B
are often dense enough to obscure the upper and middle
Figs 32.30A and B: (A) CT scans showing a posterior mediastinal
mediastinum. A thymus is recognised by its wavy margin
cystic lesion (white arrow) causing compression of the left main bron-
chus (asterisk) and; (B) Hyperinflation of the left lung. Differential diag- from indentation by the ribs, by a sail configuration and by a
nosis includes duplication cyst of the oesophagus notch where the thymic shadow intersects the cardiac margin.
A B
Figs 32.32A and B: Radiographs of neonates showing a prominent normal thymus exhibiting the sail
sign (arrow in A) or the wave sign (arrow in B). It is often difficult to ascertain true heart size on the
frontal radiograph. Mass effect or mediastinal shift is almost never seen with a normal thymus
666 Hutchison's Paediatrics
Thymic Sonography
Sonographically the thymus has an echotexture similar
to liver with punctuate echoes and echogenic lines. Real
time sonography demonstrates normal thymic malleability
during the respiratory cycle, helping in differentiating from
a thymic mass. In the setting of a mass presence of cysts,
calcification or heterogeneity of architecture can suggest
thymic pathology.
Lymphoma
Thymic involvement with lymphoma (Hodgkins and non-
Hodgkins) can be multifocal or diffuse. With lymphoma, the
age of the child and presence of other regions of adenopathy Fig. 32.33: Axial ultrasound of the thymus at the level of ascending
can be helpful in prioritising histology. If the lymphoma aorta (AA). The normal thymus (arrows) can have a bilobed appear-
is confined to the thymus in an older child or adolescent, ance, homogenous texture and some echogenic strands
a Hodgkins type lymphoma is likely. Non-Hodgkins
lymphoma can occur at any age. On CT, the appearances mediastinum and can be asymptomatic in up to half of the
can be homogenous or heterogenous with areas of fibrosis, patients. Large tumours can cause tracheal and superior vena
necrosis. caval compression and are malignant in up to 10% of cases.
Teratomas are the most common germ cell tumours and consist
Germ Cell Tumours
of ectodermal, mesenchymal and endodermal derivatives. On
These tumours include teratomas, seminomas, dysgerminomas CT/MR they contain variable amounts of fat, calcium or soft
and choriocarcinomas. Second to lymphoma as a cause tissue. Fat or calcium in an anterior mediastinal mass almost
of mediastinal mass, most are located in the superior always indicates a germ cell tumour.
A B
Figs 32.34A and B: CXR (A) and coronal reconstruction of a CT scan; (B) of a 5-year-old showing a
large mediastinal mass (arrow) midline shift and a left pleural effusion (PE). Diagnosis at biopsy was of
a T-cell lymphoma
Paediatric Radiology 667
A B
Figs 32.39A and B: (A) AP and lateral; (B) CXR in a child showing a well-defined left posterior
mediastinal mass (arrow) with erosion, splaying and thinning of the posterior ribs
A B
Figs 32.40A and B: (A) Sagittal and coronal; (B) MR images show a
left paraspinal mass (asterisk) with extension into the intervertebral
foramina (black arrows) and into the abdomen via the aortic hiatus
(white arrow)
Ewing Sarcoma
Ewing sarcoma is a malignant round cell tumour and is the
most common malignant chest wall mass in children. It usually
manifests as a peripheral chest wall mass with or without rib
destruction. The CXR will show a mass with intrathoracic
growth, rib and chest wall involvement and accompanying
pleural effusion. MRI and CT play complimentary roles in Fig. 32.42: Calcified neuroblastoma in the right paravertebral area
staging these tumours. (arrow) in 6 months old infant
Paediatric Radiology 669
A B
Figs 32.43A and B: (A) Lateral CXR and T1-weighted MR; (B) showing a left chest wall mass
following the rib contours and extending into the thoracic cavity
Rhabdomyosarcoma
Rhabdomyosarcoma is the most common extrapleural chest
wall tumour in children. The radiologic features are difficult
to distinguish from Ewing sarcoma.
A B C
Figs 32.44A to C: (A) AP and lateral; (B) CXR showing a left chest soft tissue mass and mediastinal shift. Coronal CT; (C) reconstruction
shows a mixed density mass with fluid and solid components. These appearances may be confused with empyema
670 Hutchison's Paediatrics
Fig. 32.46: The enlarged right atrium displaces the right heart border Fig. 32.48: An enlarging left atrium may elevate the left main bron-
to the right, and increased curvature of the right heart border. A step chus, and cause a bulge in the right heart border producing a double
like angle (white arrow) between the right atrium and the superior vena shadow seen through the right heart border. Particularly in rheumatic
cava may be seen heart disease there may be left atrial enlargement seen as a discrete
bulge on the left heart border below the pulmonary bay
Fig. 32.47: The right ventricle occupies the front of the heart and is
non-border forming in the frontal view. Enlargement of the right ventri- Fig. 32.49: The left ventricle forms the left border and the apex of the
cle results in tilting up and posterior displacement of the left ventricle cardiac shadow on a frontal CXR. Enlargement leads to rounding of
and a triangular configuration of the heart and elevation of the apex the apex of the heart and elongation of long axis of the left ventricle
(block arrow) (arrow)
Paediatric Radiology 671
Truncus Arteriosus
An uncommon anomaly, truncus arteriosus is due to failure
of division of the primitive truncus into the aorta and
pulmonary artery. One large vessel originates from the heart
to supply the systemic, pulmonary and coronary circulations.
A large VSD is always present. Several types of truncus
are described. Radiologically, cardiomegaly and increased
Coarctation of Aorta
Coarctation of aorta (CoA) results from membranous
infolding of the posterolateral wall of the thoracic aorta at the
level of ligamentum or ductus arteriosus causing obstruction
to forward blood flow. Poststenotic dilatation of the proximal
Fig. 32.56: Contrast enhanced magnetic resonance angiography (MRA)
shows multiple aortopulmonary collateral arteries (arrows) supplying the descending thoracic aorta is present. Significant coarctation
lungs impairs blood flow into the descending thoracic aorta
674 Hutchison's Paediatrics
Ebstein's Anomaly
An uncommon congenital abnormality in which the septal
and posterior leaflets of the tricuspid valve are attached to the
Fig. 32.58: CXR in a 14-year-old patient with a late diagnosis of coarc-
wall of the middle of the right ventricular chamber instead
tation shows a high aortic arch (black arrow), a reverse appearance at of the valve ring. This results in mild to gross tricuspid
the coarctation site (white arrow), rib notching (small arrows) and left regurgitation and marked right atrial enlargement. The
ventricular hypertrophy foramen ovale is patent and the raised right atrial pressure
results in right to left shunt and cyanosis. The frontal CXR
shows an enlarged globular or square cardiac silhouette and
reduced pulmonary vascularity.
Malrotation
Malrotation is a general term for any abnormal variation in
intestinal rotation. Any variety of malrotation seen in a child
with abdominal symptoms should be assumed to be the cause
of the symptoms unless proven otherwise. Malrotation of the
intestines is accompanied by malfixation of the mesenteric
root, which can have catastrophic consequences. The duo-
denal junction and the ileocaecal junctions are normal points
of fixation of the mesentery, which has a broad base and
unlikely to twist. When these points of fixation are not in
their usual location the mesentery has a narrow base and there
is a tendency for the intestines to twist around it. Abnormal
peritoneal bands, Ladds bands frequently accompany malro-
ta tion and can cause duodenal obstruction. Patients with
malrotation can present at any age with bilious vomiting but
most patients with symptomatic malrotation present in the
first month of life.
Fig. 32.62: Three-dimensional reconstruction of a CT angiogram
Radiological investigations should include a plain film of
shows a double aortic arch (asterisks) the abdomen, which may show duodenal obstruction and an
upper gastrointestinal studies which demonstrate malfixation
of bowel, namely malposition of the duodenojejunal flexure
(more accurate indicator of malrotation) and the caecum.
Fig. 32.63: Three-dimensional reconstruction of the airway in a patient Fig. 32.64: Upper GI contrast exam in a newborn baby with bilious
with double aortic arch and stridor shows tight narrowing of the distal vomiting shows malrotation of the small bowel with the duodenal
trachea by the complete vascular ring jejunal flexure and jejunal loops lying to the right of the spine (arrow)
676 Hutchison's Paediatrics
A B
Figs 32.65A and B: Malrotation with volvulus in another patient: Sonography with colour Doppler shows (A) a
whirlpool appearance of the volved small bowel and; (B) Twisting of the superior mesenteric artery and vein
Fig. 32.66: Abdominal film in a neonate with bilious vomiting showing Fig. 32.67: Upper gastrointestinal contrast study in a newborn with
a double bubble appearance in DA due to a dilated stomach (s) and bilious vomiting shows the duodenal diaphragm (arrow)
first part of duodenum (d). No air is present distal to the stomach
Paediatric Radiology 677
Fig. 32.68: Upper abdominal ultrasound in a neonate showing dilated Fig. 32.70: Water-soluble contrast study showing a dilated duodenum
and fluid filled first (1) and second (2) parts of the duodenum due to and failure of passage of contrast beyond the duodenal jejunal flexure
a web (arrow) in proximal jejunal atresia
Fig. 32.69: Plain radiograph in an infant with jejunal atresia showing Fig. 32.71: Abdominal film in an infant with meconium ileus shows
dilatation of proximal bowel loops marked small bowel dilatation
678 Hutchison's Paediatrics
Acute Appendicitis
Acute appendicitis is the most common indication for
emergency abdominal surgery in children. It is caused by
obstruction to the appendiceal lumen commonly by a faecalith.
The appendix distends with secondary bacterial inflammation,
oedema and vascular engorgement. Compromised blood
supp ly may produce necrosis, gangrene and perforation with
A B
Figs 32.73A and B: (A) US showing an enlarged pylorus with hypoe- A B
choic muscle (arrow). Water introduced through a nasogastric tube Figs 32.75A and B: Appendicitis with obstruction: (A) Supine view of
is seen in the antrum (asterisk); (B) plain abdominal film showing a the abdomen shows small bowel dilatation and a gasless right iliac
distended stomach (s) fossa; (B) Erect view demonstrates air-fluid levels in the small bowel
Paediatric Radiology 679
Fig. 32.76: Ultrasound of a patient with complicated appendicitis shows a distended appendix with a phlebolith (arrow). The
phlebolith is seen as an echogenic curvilinear structure with posterior acoustic shadowing. There is a focal fluid collection
near the appendix (asterisk)
Intussusception
Intussusception is the invagination of the proximal bowel
into its distal lumen. Ileocolic intussusceptions are most
common (90%) and may or may not have a lead point which
include Meckels diverticulum, polyps, lymphoma or sub-
mucosal haemorrhage. Most intussusceptions are idiopathic
and the clinical symptoms include intermittent abdominal
pain, vomiting, bloody stools and palpable abdominal mass.
The plain film is normal in 25% of patients or may show soft
tissue mass or small bowel obstruction. Ultrasound helps in
A B
Figs 32.79A and B: Ultrasound shows (A) concentric hypo and hyperechoic layers in the intussusception and; (B) A pseudokidney sign with
preserved blood supply on colour Doppler
the diagnosis and shows a mass with alternating hypo and organ or bowel trauma. Various types of solid organ
hyperechoic concentric rings axially and a pseudokidney injuries like liver fractures and contusions, splenic fractures,
sign longitudinally. pancreatic and renal injuries can occur. Bowel trauma
Depending on the sonographic appearances and clinical with contusion and perforation can also occur. The main
state of the patient radiological reduction using air is modality for investigating these surgical emergencies is CT
attempted. scanning which should be done with intravenous and gut
contract enhancement as far as possible. Associated lung
Abdominal Trauma
trauma like contusions, pneumothoraces and rib fractures
Abdominal trauma in children can be penetrating or blunt. may occur. Vertebral injuries like Chance fractures may
Blunt trauma is commoner in children and can cause solid also occur.
Fig 32.80: Air enema reduction shows the intussusception reduced to Fig. 32.81: CT scan of a child following a fall from a height shows a
the cecum (arrow) fracture of the right lobe of the liver (arrow)
Paediatric Radiology 681
A B
Figs 32.82A and B: CT scan of a child with blunt trauma shows (A) Bilateral lung contusions; (B) Pancreatic fracture (arrow)
Fig. 32.83: Renal trauma: CT scan shows a left renal fracture and Fig. 32.84: Splenic fracture (arrow) seen in a 7-year-old after fall
contusion with perirenal fluid (arrow). Note the normal right kidney from a horse
682 Hutchison's Paediatrics
Fig. 32.85: Jejunal contusion (arrow) and free fluid (FF) in the left flank in
a patient with blunt trauma to the abdomen from fall from a tree
THE CHILD WITH AN ABDOMINAL MASS a tumour, which is in homogenous, echogenic and a poorly
defined extrarenal mass. Hypoechoic regions may be due to
Common masses include: haemorrhage, necrosis or cyst formation. Areas of calcification
Neuroblastoma are echogenic. CT scanning accurately stages the tumour
Wilms tumour and demonstrates the primary tumour, contiguous spread,
Multicystic dysplastic kidney (MCDK) vascular encasement retroperitoneal lymphadenopathy and
Hepatoblastoma liver metastases. MRI is the imaging modality of choice and
Pelviureteric junction obstruction (PUJ) is superior in imaging adenopathy, vascular involvement,
Lymphoma. bone marrow metastases and intraspinal extension.
The differential diagnosis varies according to the age.
An abdominal mass in the newborn is most commonly
benign and of renal origin (neonatal hydronephrosis due
to various causes). Renal, neoplasms are unusual in this
group but occasionally mesoblastic nephroma may be seen.
Other masses include renal enlargement due to renal vein
thrombosis, adrenal haemorrhage, bowel related masses
and sacrococcygeal teratoma. In infants and young children
the retroperitoneal masses are common. These include
neuroblastmas and Wilms tumour. Other masses include
hepatoblastomas, lymphomas, teratomas and lymphangiomas.
Abdominal Neuroblastoma
Most common extracranial solid tumour of childhood, and
accounts for 10% of all paediatric neoplasms. Presentation
is commonly with an abdominal mass. Other modes of
presentation include cord compression, constipation, or as
a paraneoplastic syndrome. Two of these syndromes are
recognised, namely the opsoclonus myoclonus syndrome
and the watery diarrhoea, hypokalaemia and achlorhydria
syndrome. Radiological evaluation begins with a plain film, Fig. 32.86: Neuroblastoma: CT scan showing a calcified lower
which shows a mass with calcification. Sonography shows abdominal mass with presacral lymphadenopathy
Paediatric Radiology 683
Wilms Tumour
Wilms tumour is the most common renal tumour of childhood
and presents mostly as an asymptomatic abdominal mass.
Other symptoms include abdominal pain and haematuria.
Plain abdominal radiography shows a soft tissue mass with
calcification in about 5%. Sonography shows an intrarenal
mass which is hyperechoic compared to normal renal
parenchyma with areas of necrosis and cysts. Renal vein
Fig. 32.90: Right side Wilms tumour: Coronal MRI shows a large
right sided mass containing areas of cystic degeneration
Hepatoblastoma
Primary liver tumours account for 15% of abdominal
neoplasms in children. Most children present with an
asymptomatic abdominal mass. Others present with anorexia,
weight loss, jaundice and pain. Alpha fetoprotein levels are
raised in up to 90% of cases. Plain films reveal a soft tissue
mass in the upper abdomen. Sonographically the lesion
appears as a large, well-defined intrahepatic hyperechoic
mass containing areas of cystic degeneration, necrosis and
haemorrhage. Hepatic and portal venous invasion may occur.
CT and MRI define the intrahepatic extent, extrahepatic
spread and vascular invasion.
Fig. 32.91: Lung metastases from a Wilms tumour. CT image
showing a large right sided lung metastasis (arrow)
Fig. 32.93: Mesoblastic nephroma (same patient as above).CT Fig. 32.95: Hepatoblastoma: US scan of a month old infant with an
image shows a right renal mass of mixed attenuation abdominal mass shows a large hyperechoic mass
Paediatric Radiology 685
PAEDIATRIC NEURORADIOLOGY
Cephalocele
A cephalocele is a defect in the skull and dura, through
which intracranial structures (cerebrospinal fluid, meninges
and brain tissue) can herniate. MRI is the study of choice for
investigating this condition.
Burkitt Lymphoma
A B
Figs 32.98A and B: Plain abdominal film (A) Showing upper abdomi- Fig. 32.100: Occipital cephalocele. Sagittal T1-weighted MR image
nal fullness due to masses; (B) MRI showing diffuse bowel wall infiltra- shows a large occipital cephalocele with herniation of cerebellar tissue
tion and a right renal mass (arrow) (arrow) and CSF into the cephalocele
686 Hutchison's Paediatrics
HOLOPROSENCEPHALY
The holoprosencephalies are a group of disorders typified
by failure of the embryonic forebrain (prosencephalon) to
sufficiently divide into two cerebral hemispheres.
B
Figs 32.102A and B: Dandy-Walker malformation. (A) Sagittal T2-
weighted MR image shows a markedly enlarged posterior fossa and
cystic dilatation of the fourth ventricle; (B) Axial T2-weighted MR image
shows the markedly hypoplastic cerebellar vermis (arrows)
B
Figs 32.101A and B: Holoprosencephaly. (A) Coronal ultrasound
scan shows a holoventricle due to absence of midline structures (sep-
tum pellucidum, corpus callosum and falx cerebri). The thalami (arrow-
heads) are fused in the midline; (B) Axial T2-weighted image shows a
holoventricle
Dandy-Walker Malformation
The Dandy-Walker malformation consists of complete or
partial agenesis of the cerebellar vermis, an enlarged posterior Fig. 32.103: Dandy-Walker malformation. Sagittal T2 MR image
cranial fossa and cystic dilatation of the fourth ventricle, shows enlarged posterior cranial fossa with mild hypoplasia of the cer-
which almost entirely fills the posterior cranial fossa. ebellar vermis (arrow)
Paediatric Radiology 687
Tuberous Sclerosis
Tuberous sclerosis is a genetic disorder which results in
hamartoma formation in many organs, including the brain.
Intracranial manifestations include:
A B
Figs 32.111A and B: Vein of Galen malformation. T2-weighted MR sagittal (A) and axial; (B) Images
demonstrating the malformation (black arrows). There is obstructive hydrocephalus involving the lateral
and third ventricles
A B
Figs 32.112A and B: Left parietal skull fracture and extradural haematoma. (A) Unenhanced CT brain scan shows a large biconvex collection
of blood adjacent to the left cerebral hemisphere (arrows); (B) The left parietal skull fracture is demonstrated (arrow)
690 Hutchison's Paediatrics
Fig. 32.117: Grade 3 intraventricular haemorrhage. Right parasagit- Fig. 32.119: Post-haemorrhagic hydrocephalus. Coronal ultrasound
tal ultrasound scan shows haemorrhage (arrows) in the right lateral scan shows marked dilatation of both lateral ventricles and the third
ventricle which is dilated ventricle (thick arrow). Some residual clot is present in the right lateral
ventricle (thin arrow)
A B
Figs 32.118A and B: Grade 4 haemorrhage. (A) Left parasagittal ultrasound scan shows haemorrhage in the parenchyma adjacent to the
left lateral ventricle (arrow); (B) Coronal ultrasound scan shows extensive intraventricular haemorrhage (white arrow) and periventricular
parenchymal haemorrhage (black arrow). Note the obstructive hydrocephalus of the right lateral ventricle (small arrows)
A B
Figs 32.120A and B: Progression of PVL. (A) Coronal ultrasound scan at approximately one week of age shows increased periv-
entricular echogenicity around the frontal horns of the lateral ventricles (arrows); (B) A follow-up ultrasound scan shows significant
cavitation in the right frontal periventricular white matter (small arrows)
A B
Figs 32.121A and B: PVL. (A) Parasagittal ultrasound scan shows increased echogenicity in the white matter adjacent to the
right lateral ventricle; (B) Follow-up scan shows cavitation in the same area, consistent with cystic PVL
Infarction
There are a number of causes of hypoxic-ischaemic brain Cranial ultrasound can be used to investigate neonates
infarction in infants and children. Cardiac causes, thrombotic and infants in whom cerebral infarction is suspected. It is
conditions and metabolic diseases are a few categories of however less sensitive to CT and MR imaging in the detection
conditions responsible for strokes in the paediatric population. of areas of hypoxicischaemic brain injury.
Paediatric Radiology 693
A B
Figs 32.122A and B: Left middle cerebral artery (MCA) territory infarct. (A) Coronal ultrasound scan in a neonate shows subtle
increased echogenicity in the left MCA territory (arrow); (B) Unenhanced axial CT scan shows decreased attenuation (dark area) in
the left MCA territory, consistent with an infarct (arrows)
A B
Figs 32.123A and B: Right middle cerebral artery (MCA) territory infarct. (A) Axial T2-weighted MR image shows subtle swelling and
loss of grey-white matter differentiation in the right MCA territory, consistent with an acute infarct; (B) The ADC map of the diffusion
sequence best demonstrates the acute infarct
694 Hutchison's Paediatrics
Brain Abscess
Pyogenic organisms causing brain infection can reach the
brain by haematogenous spread from a distant infection,
extension of infection from adjacent sites (sinus or middle
A B
Figs 32.125A and B: Congenital CMV infection of the brain. (A) Unenhanced axial CT scan of brain shows
a tiny area of periventricular calcification (arrow) near the frontal horn of the left lateral ventricle; (B) Axial
T2-weighted MR image shows abnormal areas of increased signal in the periventricular and deep white
matter (arrows)
Paediatric Radiology 695
Tuberculous Meningitis
Central nervous system (CNS) manifestations of tuberculous
(TB) infection include meningitis, tuberculoma, tuberculous
abscess or spinal leptomeningitis.
In TB meningitis, a thick exudate fills the basal cisterns.
The basal cisterns on contrast-enhanced scans shows the
thick exudate blocks the subarachnoid space, causing
hydrocephalus. Another complication is small vessel disease
which results in basal ganglia and thalamic infarcts.
Tuberculomas are ring-enhancing lesions within the
brain. They can be single or multiple.
Hydrocephalus
Hydrocephalus is a disorder where there is disturbance in the
production, flow or absorption of cerebrospinal fluid (CSF).
Consequently, there is increased CSF volume within the
CNS, causing distension of the CSF pathways and increased
pressure transmitted to the brain parenchyma.
Fig. 32.128: Hydrocephalus. Axial CT scan shows marked dilatation
of both lateral ventricles
A B
Figs 32.127A and B: Left frontal lobe tuberculoma. (A) Contrast enhanced axial CT scan shows a ring-enhancing lesion in the left
frontal lobe of the brain. There is adjacent white matter oedema (arrow); (B) Axial T2 weighted MR brain image. The tuberculoma
(black arrow) is isointense to brain. Note the adjacent white matter oedema (white arrow)
696 Hutchison's Paediatrics
Medulloblastoma
A medulloblastoma on CT scanning is usually a dense
neoplasm arising from the cerebellar vermis. Cystic
change can be seen in approximately 50% of tumours and
calcification in up to 20%. The tumours enhance with
intravenous contrast. Hydrocephalus is usually present at the
time of diagnosis.
A B
Figs 32.129A and B: Examples of hydrocephalus on MR imaging. (A)
Axial T2-weighted MR scan demonstrates marked dilatation of both
lateral ventricles and the third ventricle (arrow); (B) Coronal MR image
from another patient also shows hydrocephalus involving both lateral
ventricles and the third ventricle
Tumours
Computed tomography (CT) is usually the imaging modality
employed in the initial diagnosis of intracranial tumours.
However, MR is becoming the preferred study because of its
multiplanar imaging capability, which is useful for surgical
planning. Furthermore, it can image the spine. This is a
prerequisite for the staging of intracranial neoplasms which
metastasise to the spine.
A
Craniopharyngioma
On CT scanning, craniopharyngiomas are identified as mass
lesions in the suprasellar region, composed of cystic areas
and calcification.
B
Figs 32.131A and B: Medulloblastoma (A) Unenhanced axial CT
scan shows anse mass lesion situated within the cerebellar vermis,
containing a small area of calcification (black arrow). The tumour is
Fig. 32.130: Craniopharyngioma. Unenhanced axial CT brain scan impinging upon the fourth ventricle, restricting CSF flow and con-
shows a cystic (white arrow) and calcified (black arrow) lesion in the sequently there is hydrocephalus of the lateral and third ventricles;
suprasellar region. Note the hydrocephalus affecting the lateral ventri- (B) After injection of intravenous contrast, there is marked tumour
cles with marked dilatation of the temporal horns (small arrows) enhancement
Paediatric Radiology 697
A B C
Figs 32.132A to C: Medulloblastoma. (A) Axial T2-weighted MR image shows a midline posterior fossa mass which is of increased signal inten-
sity relative to the cerebellum; (B) Sagittal T1-weighted MR image shows the mass to be hypointense on this sequence. The mass is obstructing
the fourth ventricle (arrow) and; (C) Sagittal T1-weighted MR image following intravenous contrast. The tumour demonstrates enhancement
with contrast
A B
Figs 32.134A and B: Pilocytic astrocytoma. (A) Unenhanced axial CT scan shows a cystic mass centred on the
left cerebellar hemisphere. It distorts the fourth ventricle and there is hydrocephalus of the third and lateral ventri-
cles; (B) Following intravenous contrast infusion, there is marked enhancement of a mural nodule in the posterior
aspect of the cystic tumour (arrow)
A B
Figs 32.135A and B: Pilocytic astrocytoma. (A) Sagittal T1-weighted MR image shows a hypointense cystic
tumour in the cerebellum. The mural nodule is situated posteriorly within the tumour (arrow); (B) Axial T1- weighted
MR image shows intense enhancement of the tumour nodule following intravenous contrast administration (arrow)
Paediatric Radiology 699
A B Retinoblastoma
Figs 32.136A and B: Ependymoma. (A) Unenhanced axial CT scan Retinoblastoma is the commonest orbital malignancy and is
through the posterior cranial fossa shows an isodense mass (arrow)
almost universally a tumour of infancy. The tumour can be
containing punctuate calcification, arising from the fourth ventricle; (B)
Axial image from a higher level shows hydrocephalus affecting the unilateral or bilateral. Calcification is present in excess of
lateral ventricles and the third ventricle 90% of tumours.
A B
C D
Figs 32.137A to D: Brain stem glioma. (A) Axial unenhanced CT scan shows a poorly defined low
density mass in the pons (arrow); (B) Axial and; (C) Sagittal T2-weighted MR images show a hetero-
geneous mass of increased signal intensity expanding the pons (arrows). There is minor distortion
of the fourth ventricle; (D) T1-weighted sagittal MR scan following intravenous contrast administra-
tion. There is peripheral enhancement of a cystic area posteriorly within the tumour (arrow). The
remainder of pontine glioma is poorly enhancing
700 Hutchison's Paediatrics
Myelomeningocele
Myelomeningocele results from impaired closure of the
caudal end of the neural tube. This results in an open lesion
Fig. 32.138: Retinoblastoma. Ultrasound scan of right globe reveals
or sac containing abnormal spinal cord, nerve roots and
an irregular mass (arrow) containing multiple specks of calcification
meninges which herniate through a posterior defect in the
vertebral column.
A B
Figs 32.141A and B: Myelomeningocele and hydrocephalus. (A)
Sagittal T1-weighted MR image of the lower spine shows a large
lumbosacral meningocele. The spinal cord is stretched and can be
Fig. 32.139: Retinoblastoma left orbit. Unenhanced axial CT scan identified passing through the posterior spinal defect (arrow); (B) Axial
through the orbits shows a small calcified lesion arising from the retina T2-weighted MR image of the brain shows marked dilatation of the
in the temporal aspect of the left globe (arrow) lateral ventricles due to hydrocephalus
Paediatric Radiology 701
A C
Figs 32.143A to C: Diastematomyelia. (A) Coronal and; (B) Axial T1-
Fig. 32.142: Chiari II malformation. Sagittal T1-weighted MR image
weighted MR images show a bony spur (arrow) extending posteriorly
shows a small posterior cranial fossa and inferior displacement of the
from a vertebral body in the lower thoracic spine, splitting the spinal
cerebellum through the foramen magnum (white arrow). The fourth
cord into two hemicords; (C) Axial T1-weighted MR image obtained
ventricle is narrow and displaced caudally (white arrow)
above the level of the bony spur shows the hemicords (arrows)
Closure of the spinal defect is usually performed within Type III: Tumours have a predominant internal component
48 hours of delivery and consequently imaging studies of the although the external component is still visible.
spine are rarely performed preoperatively. Type IV: Tumours are entirely presacral without any external
Myelomeningocele is associated with the Chiari II component.
malformation. The malformation is associated with caudal
displacement of the medulla, fourth ventricle and cerebellum
into the cervical spinal canal. Consequently there is
elongation of the pons and fourth ventricle. In combination,
these features impede the flow and absorption of CSF causing
hydrocephalus, usually after surgical closure of the spinal
defect.
Diastematomyelia
Diastematomyelia is the sagittal division of the spinal cord
into two hemicords by a bony or cartilaginous spur, or
fibrous septum. MRI is the preferred modality for imaging
children with suspected diastematomyelia. The defect is most
commonly found in the lumbar region.
Sacrococcygeal Teratoma
This is a rare congenital tumour that develops in the
sacrococcygeal region. The tumour usually presents as
an external mass protruding from the gluteal cleft or the
perineum. The tumour is divided into 4 types:
Type I: Tumours are predominantly external, situated
posteriorly, and have only a minimal presacral component. Fig. 32.144: Sacrococcygeal teratoma in a neonate. Lateral radio-
Type II: Tumours have significant pelvic extension but the graph shows a large exophytic soft tissue mass arising from the gluteal
external portion predominates. region. The lower density area within the lesion represents fat
702 Hutchison's Paediatrics
SKELETAL DYSPLASIAS
Thanatophoric Dysplasia
Radiographic Findings
Skull: Proportionately large skull relative to trunk
Thorax: Long narrow trunk with very short ribs, small
abnormal scapulae
Spine: Small, flat vertebrae with U or H shaped vertebrae
in the AP projection
Pelvis: Small flared iliac wings, narrow sacrosciatic
notches and flat acetabula
Limbs: Long bone shortening and bowing; French
telephone receiver femurs
Fig. 32.145: Sacrococcygeal teratoma. Sagittal T2-weighted MR im-
Hands and feet: Marked shortening and broadening of
age demonstrates a large cystic structure in the presacral region.
Some solid elements are present inferiorly within the lesion (arrow). the tubular bones.
There is significant anterior displacement of the rectum and bladder
by the mass. This is a type III tumour since it has a small external
component
A B C
Figs 32.146A to C: Thanatophoric dysplasia. (A) The head is proportionately large and the trunk is long and narrow. There is marked
rib shortening and the scapulae are small. There is shortening of the long bones of the limbs (micromelia)-note the French telephone
receiver femurs. The vertebral bodies are flat and H-shaped; (B) The lateral view shows the flattened vertebrae and the proportionately
large skull and; (C) Coned view of the pelvis and lower limbs demonstrates small, flared iliac wings, narrowed sacrosciatic notches
(black arrow) and horizontal acetabula
Paediatric Radiology 703
D
A
B C E
Figs 32.147A to E: Achondroplasia in newborn infant. (A) Large skull with midface hypoplasia; (B) Small thorax with short ribs; (C) AP and
lateral views of spine show a thoracolumbar kyphoscoliosis. (D) The lateral view shows posterior vertebral body scalloping (arrow) and a
horizontal sacrum and; (E) AP view of lumbar spine demonstrates gradual reduction in interpediculate distance caudally (arrows)
Achondroplasia
Radiographic Findings
Skull: Large skull with relatively small base and midface Pelvis: Champagne glass appearance of pelvis. Flared
hypoplasia iliac wings, narrow sacrosciatic notches and flat acetabular
Thorax: Small short ribs which are splayed anteriorly roofs
Spine: Short flat vertebral bodies. Short pedicles with Limbs: Short and thick tubular bones, flared metaphyses
decreasing interpedicular distance caudally in lumbar Hands: Shortening and broadening of metacarpal and
spine. Posterior scalloping of vertebral bodies phalangeal bones.
704 Hutchison's Paediatrics
A C
B D
Figs 32.148A to D: Achondroplasia in neonate. (A) The pelvis X-ray shows flared iliac bones, flat acetabular roofs and narrow sacrosci-
atic notches; (B) and; (C) Limb X-rays show shortening of the long bones; (D) Hand: Short and broad metacarpal and phalangeal bones
D C
Figs 32.149A to D: Hurlers syndrome. (A) Lateral radiograph demonstrates an enlarged skull. The dens is hypoplastic
(arrow); (B) Frontal chest X-ray shows thickened clavicles and broad ribs. The glenoid fossae are poorly formed (arrows);
(C) The lateral spine film features a thoracolumbar gibbus, and anteroinferior beaking of the vertebrae at the apex of the
gibbus (arrows) and; (D) The pelvic X-ray demonstrates small, flared iliac wings and steep acetabular roofs
706 Hutchison's Paediatrics
B C D
Figs 32.152A to D: Osteogenesis imperfecta in a neonate. (A) Lateral skull film shows multiple intrasutural (Wormian) bones; (B) Chest
radiograph demonstrates multiple healing rib fractures giving the ribs a beaded appearance. There is also a healing left clavicular fracture; (C) and;
(D) There are multiple fractures within both lower limbs. The femurs are short and crumpled due to healing fractures and there is bowing deformity
of the tibia and fibula bilaterally. The bones are osteopenic
Paediatric Radiology 707
Radiographic Findings:
Skull: Variable decreased ossification, abnormal number
of wormian bones (small bones within the cranial sutures)
Spine: Wedged or collapsed vertebrae, kyphoscoliosis
Remainder of skeleton: Osteoporosis and fractures.
A B C
Figs 32.153A to C: Osteogenesis imperfecta in an older child. (A) The lateral spine X-ray shows wedging and
collapse of several vertebral bodies. The child has a Portacath device in situ for intravenous biphosphonate treatment;
(B) The right leg is in a plaster cast due to a recent midshaft spiral fracture of the right femur (arrow). There is also
an older healing fracture in the proximal shaft; (C) There are fractures within the distal left tibia (arrows). Note the
osteopenia. There is also lateral bowing of the distal tibia and fibula
708 Hutchison's Paediatrics
Fig. 32.155: Decentred hip. Coronal ultrasound scan shows the cartilaginous
femoral head (FH) lies out with the bony acetabular roof (arrow)
Fig. 32.156: Developmental dysplasia of hip and dislocation. There Fig. 32.157: Late diagnosis of bilateral DDH in a four-year-old girl.
is increased slope of the left bony acetabulum. The left femoral head Both hips are dislocated superiorly and laterally and articulate with
ossification centre is hypoplastic. The left femoral head is dislocated pseudoacetabula (arrows)
superiorly and laterally. The right hip is normal
Paediatric Radiology 709
A B
Figs 32.158A and B: Legg-Calv-Perthes disease left hip. (A and B): Frontal and frog-leg lateral radiographs demonstrate flattening,
irregularity, fragmentation and sclerosis of the left capital femoral epiphysis. The right capital femoral epiphysis is normal
A B
C D
Figs 32.159A to D: Serial radiographic changes of Legg-Calv-Perthes disease of right hip. (A) Radiograph at presentation dem-
onstrates flattening and sclerosis of the right capital femoral epiphysis; (B) Radiograph five months later reveals further loss of
epiphyseal height; (C) Ten months later, there is marked fragmentation and flattening of the right capital femoral epiphysis; (D) Two
and a half years after the onset, the capital femoral epiphysis has healed but is flatter and wider to fit the widened femoral neck
710 Hutchison's Paediatrics
Radiographic Findings:
Demineralisation
Widening of the growth plate
Cupping, fraying and splaying of the metaphysis, which
is of reduced density
Thin bony spur extending from the metaphysis to
surround the uncalcified growth plate
Indistinct cortex because of uncalcified subperiosteal
osteoid
Poorly ossified epiphyses with faint, indistinct borders.
Fig. 32.162: Rickets. Radiograph of the left wrist shows a wide distal
radial growth plate. Note the cupping, fraying and splaying of the distal
radial and ulnar metaphyses. There is a prominent bony spur extend-
ing from the distal radial metaphsysis (arrow). The distal radial epiphy-
sis is poorly ossified and has an indistinct contour. The forearm bones
are demineralised with coarsened trabeculae and indistinct cortices
Fig. 32.161: Left slipped capital femoral epiphysis. Frog leg lateral Scurvy
view shows mild slippage of the left capital femoral epiphysis (arrow)
Scurvy is the result of vitamin C deficiency.
Radiographic Findings:
Generalised osteopenia
METABOLIC BONE DISORDERS Dense zone of provisional calcification due to excessive
calcification of osteoid
Rickets Metaphyseal lucency
There are a number of clinical conditions which can lead Metaphyseal corner fractures through the weakened
to the development of rickets. The radiographic features of lucent metaphyses (Pelkan spurs)
this metabolic disorder are shared, whatever its underlying Periosteal reaction due to subperiosteal haematoma
cause. Loss of epiphyseal density with a pencil thin cortex.
Paediatric Radiology 711
Lead Poisoning
Lead intoxication may occur by ingesting or inhaling the
metal. Lead is present in many products including leaded
petrol, old water pipes and lead paint. Exposure to lead can
lead to anaemia, abdominal symptoms (abdominal pain, Fig. 32.165: Juvenile idiopathic arthritis of both knees. The bones are
vomiting, diarrhoea), a blue line around the gums and osteopenic and there is significant joint space loss at the femorotibial
encephalopathy. In the skeletal system, lead intoxication joints. Subarticular bony erosions are present (arrow). The epiphyses
are enlarged (overgrowth). There is slight lateral subluxation of the
causes widening of the cranial sutures (due to increased tibia in relation to the femur bilaterally
intracranial pressure) and dense transverse lines in the
metaphyses of tubular bones. Opaque lead particles can be
seen within bowel on abdominal radiographs.
Fig. 32.166: Juvenile idiopathic arthritis of the left hand and wrist.
There is osteopenia, especially in a periarticular distribution. There is
significant joint space loss at the radiocarpal and carpal joints. Note
Fig. 32.164: Lead poisoning. AP radiograph of the knees reveals trans- the irregularity of the carpal bones. Joint space loss is also present at
verse bands of increased density in the metaphyses of the long bones the metacarpophalangeal and the interphalangeal joints. There is soft
(arrows) tissue swelling of the fingers proximally
712 Hutchison's Paediatrics
Fig. 32.167: Dermatomyositis. Coronal T2-weighted MR sequence Fig. 32.169: Congenital syphilis. Radiograph of left forearm in a
through the thighs with fat saturation shows diffusely abnormal neonate shows metaphyseal lucency within the long bones, best dem-
increased signal intensity within the muscles of both thighs and also onstrated in the distal radius and ulna (arrows)
within the subcutaneous tissues
A B C
Figs 32.168A to C: Dermatomyositis. (A) AP radiograph of both knees shows amorphous calcification mainly in the cutaneous tissues
bilaterally; (B and C) AP and lateral radiographs of right elbow. There is extensive calcification in the cutaneous tissues and in the
muscles around the elbow joint
Paediatric Radiology 713
Osteomyelitis
Osteomyelitis is an acute or chronic inflammatory condition
of bone and its adjacent structures due to pyogenic organisms.
Radiographs often show no bony abnormality in the early
stages, although soft tissue swelling may be evident. Bony
involvement is often not detected on radiographs until the
second week of the disease. This is manifest as radiolucent
areas, usually in the metaphysis, where bony destruction has
occurred. Periosteal reaction is also evident. If treatment is
delayed or ineffective, there is an increase in the amount
of periosteal reaction to form an involucrum around the
fragments of dead bone (sequestrum).
HAEMOLYTIC ANAEMIAS
Thalassaemia
Skeletal Findings:
Skull: Osteoporosis; expansion of the diploic space,
especially in the frontal bone; thinning of the outer table
Fig. 32.170: Congenital syphilis. There are bilateral symmetric destruc- of the skull; hair-on-end appearance. Hypoplasia of the
tive metaphyseal lesions on the medial aspect of the tibiae. There is
also significant periosteal reaction along the diaphyses of the femurs paranasal sinuses due to expansion of the facial bones;
and tibiae (arrows) malocclusion of the jaw
Trunk: Osteoporosis, coarse bony trabeculae and cortical
The radiographic features of congenital syphilis in childhood thinning. Accentuation of vertical trabecular pattern in
are: the vertebrae; biconcave vertebral bodies
Periosteal and cortical thickening Tubular bones: Widened medullary cavity and cortical
Focal destructive lesions. thinning.
A B
Figs 32.171A and B: Osteomyelitis proximal right humerus. (A) AP radiograph at time of presentation shows patchy radiolucency within the
proximal right humeral shaft and faint periosteal reaction (arrow); (B) Follow-up radiograph one month later with treatment. The lucent area within
bone is smaller and well-defined. The periosteum has produced new cortical bone (arrows)
714 Hutchison's Paediatrics
A B
Figs 32.176A and B: LCH of skull. (A) Lateral skull radiograph shows a large, well-defined lytic lesion within the temporal bone region
of the skull (arrow); (B) Axial CT scan through the skull on bone window settings. This confirms the presence of an extensive destructive
process involving the left petrous temporal bone (arrows)
716 Hutchison's Paediatrics
Langerhans cell histiocytosis lesions in the skull are radiographic appearance is a cortically based sclerotic lesion
usually well-defined lytic lesions with sharp margins. In the in a long bone, which has a small lucent area within it known
spine, the disease causes lytic destruction and collapse of the as the nidus.
vertebral body. Elsewhere in the skeleton, LCH lesions are
usually well-defined with minimally sclerotic borders. OSTEOSARCOMA
Osteosarcomas can occur anywhere in the skeleton. Frequently
PAEDIATRIC BONE TUMOURS
encountered sites are the distal femur, proximal tibia,
Osteoid Osteoma proximal humerus and pelvis. Long bone tumours usually
arise from the metaphysis. On X-ray, a typical osteosarcoma
The osteoid osteoma is a painful lesion, with patients is identified as a mixed lytic and sclerotic lesion involving
classically complaining of night pain. The commonest sites
for osteoid osteoma are the femur and tibia. The typical
A B
Figs 32.179A and B: Osteosarcoma of distal left femur. (A and B) AP
and lateral radiographs of left knee show a sclerotic lesion arising from
the distal left femoral diametaphysis. Spiculated periosteal reaction is
present (white arrow) and there is also elevated periosteal reaction
A B (Codmans triangle) at the superior margin of the lesion (white arrow)
Figs 32.177A and B: Osteoid osteoma of the left tibia. (A) AP radio-
graph of left lower leg demonstrates dense sclerosis and focal cortical
thickening along the medial aspect of the proximal left tibia; (B) The
lateral radiograph shows the small radiolucent nidus within the bony
lesion (arrow)
Ewing Sarcoma
The commonest site for Ewing sarcoma is the long bone
diaphysis. Flat bones (pelvis and ribs) are also commonly
involved.
The typical radiographic appearance of Ewing sarcoma
is a moth eaten lesion (due to multiple small holes) in the
diaphysis or, less commonly, the metaphysis of a long bone.
There is usually an onion skin type of periosteal reaction.
Non-accidental Injury
Skeletal Findings:
Multiple fractures in varying stages of healing Fig. 32.183: Lateral view of ankle demonstrates metaphyseal corner
Diaphyseal fractures, especially in the non-ambulatory fractures of the distal tibia (arrows)
infant/child
Metaphyseal fractures: The classic metaphyseal fracture
is often described as a corner or bucket-handle fracture PAEDIATRIC RENAL IMAGING
Rib fractures: Posterior rib fractures have a higher
specificity for inflicted injury than anterolateral fractures
Scapula fracture: Fracture of the acromion is highly CONGENITAL ANOMALIES
specific for abuse
Ureteral Duplication
Spinal fractures
Skull fractures. Ureteral duplication may be partial or complete. In partial
Other types of injury encountered in this situation include duplication, the ureters unite anywhere along their course and
intracranial and visceral trauma. then continue inferiorly as a single structure. In completely
718 Hutchison's Paediatrics
Fig. 32.187: Duplex left kidney. Renal radionuclide study using tech-
netium 99 m dimercaptosuccinic acid (DMSA). This image taken from
the back, shows an enlarged left kidney consistent with a duplex kid-
ney (arrow)
Horseshoe Kidney
The horseshoe kidney arises because of fusion of the lower
poles of the kidneys across the midline. This fusion produces
an abnormal renal axis, which may be detected on ultrasound.
The fused portion of the kidney (known as the isthmus) may
also be visualised on ultrasound as renal tissue which overlies
Fig. 32.185: Uncomplicated ureteral duplication. Parasagittal ultra-
the spine. The horseshoe kidney is best demonstrated in its
sound scan of left kidney shows two echogenic renal sinuses (arrows).
The kidney is also enlarged. These findings are typical for an uncom- entirety on renal scintigraphy (DMSA scan) and abdominal
plicated duplex kidney CT or MR scans.
Paediatric Radiology 719
Fig. 32.190: Pelvic kidney on DMSA scan. The right kidney is located
Fig. 32.188: Horseshoe kidney. DMSA scan demonstrates uptake
in a normal position. The left kidney is ectopic, lying within the pelvis
within both kidneys and within the renal isthmus (arrow)
Fig. 32.189: Horseshoe kidney on abdominal MR scan. Axial T2- Fig. 32.191: Pelvic kidney. Coronal T2-weighted MR scan shows an
weighted (fat saturated) image demonstrates fusion of the lower poles ectopic left kidney above the bladder (arrow). The renal pelvis and
of the kidneys anterior to the spine (arrows) calyces are dilated
B
Figs 32.193A and B: Agenesis of left kidney. (A) Left parasagittal ul-
trasound scan shows no kidney in the left flank; (B) Right parasagittal
ultrasound scan demonstrates a normal appearing right kidney which
is larger than usual due to compensatory hypertrophy
C
Figs 32.192A to C: Crossed fused renal ectopia. (A) Parasagittal ul-
trasound scan of right flank shows absent right kidney; (B) Parasagit-
tal scan ultrasound scan of left flank shows a normally positioned left
kidney (white arrow) with an apparentmass of renal tissue at its lower
pole (black arrow). This is the ectopic right kidney; (C) DMSA renal
scan demonstrates the ectopic right kidney lying medially and horizon-
tally, attached to the lower pole of the left kidney
Renal Agenesis
Bilateral renal agenesis is a lethal anomaly. If the diagnosis is
not made until birth, the infant will have features of Potters
sequence. A renal ultrasound scan in the early neonatal
period usually confirms the diagnosis by showing no renal
tissue in the renal flanks or in an ectopic location.
Unilateral renal agenesis is sometimes detected antenatally
Fig. 32.194: Agenesis of left kidney. Radio-isotope study (DMSA)
or on postnatal ultrasound because of anomalies elsewhere. It shows a solitary right kidney. No left kidney or ectopic renal tissue is
is also associated with anomalies of the genital tract. identified
Paediatric Radiology 721
Autosomal Recessive Polycystic Kidney Disease The ultrasound appearances of autosomal recessive poly-
cystic kidney disease in neonates are bilateral enlarged kidneys
This is a rare disorder involving both kidneys and the liver.
which are diffusely echogenic. Discrete small cysts may be
The disease causes ectasia of the renal collecting tubules and
visible.
this is manifest pathologically as numerous tiny cysts in the
cortex and medulla. Multicystic Dysplastic Kidney
Multicystic dysplastic kidney is a severe form of renal
dysplasia which is associated with obstruction of urinary
drainage on the affected side, probably occurring in utero.
The sonographic features of classic multicystic dysplastic
kidney are multiple cysts of variable size which do not
communicate with each other. There is absent or dysplastic
renal parenchyma and no renal pelvis is identified. There is
no function in a multicystic dysplastic kidney.
B
Figs 32.195A and B: Autosomal recessive polycystic kidney disease
in a newborn infant. (A) Longitudinal ultrasound scan of right kidney Fig. 32.197: Multicystic dysplastic kidney. Longitudinal ultrasound
demonstrates a markedly enlarged, echogenic kidney; (B) Longitudi- image of the left kidney reveals several cysts of different size within
nal ultrasound scan of the left kidney also shows an enlarged, echo- the kidney. The cysts are non-communicating. No normal renal paren-
genic kidney. There are a few small discrete cysts within the renal chyma is identified
parenchyma (arrows)
B
Figs 32.201A and B: Medullar nephrocalcinosis. (A and B) Longitudi-
nal ultrasound images of right and left kidneys respectively. The renal
pyramids are markedly hyperechoic due to medullary calcinosis
NEOPLASTIC DISEASES
Wilms Tumour
Wilms tumour is the commonest abdominal malignancy of
childhood. Radiologic examinations help to stage the disease in
order to assist surgical planning and treatment, and to evaluate
response to treatment. The tumour is usually identified as
an intrarenal mass. It can extend via the renal vein into the
inferior vena cava and right atrium and it can metastasise to
the lungs. Bilateral Wilms tumours can occur.
Neuroblastoma
Fig. 32.211: Right adrenal neuroblastoma. Coronal T2-weighted (fat
Among paediatric abdominal neoplasms, neuroblastoma is the
saturated) MR scan of abdomen demonstrates an ovoid mass situ-
second most common after Wilms tumour. Neuroblastomas ated above the upper pole of the right kidney in the right adrenal gland
which arise within the abdomen are staged with an abdominal (arrow)
A B
Figs 32.212A and B: Right adrenal neuroblastoma with nodal metastases. (A) Unenhanced axial CT scan through the upper abdomen dem-
onstrates a large low density mass in the right flank which crosses the midline. The mass contains small areas of increased density, which are
flecks of calcium. This is a feature in up to 90% of tumours on CT scanning; (B) Contrast-enhanced axial CT scan through the same region
shows the conglomerate mass of tumour and retroperitoneal lymphadenopathy. The lymphadenopathy is displacing the aorta and left renal
artery anteriorly (arrow)
726 Hutchison's Paediatrics
C H A P T E R
Paediatric
Maxillofacial Surgery
developing world where caries and poor oral hygiene are Box 33.1: Paediatric maxillofacial surgery
commonplace. Life-threatening spread of infection may
Favourable aspects Unfavourable aspects
occur from the oral cavity into the pharynx with lethal Good blood supply Small dimensions
consequences if not well-managed by the surgeon. Rapid healing Bone weakness
Maxillofacial pathology and oral manifestations of systemic Growth adaptation of bone Close location of tooth buds
disease often present in the face with characteristic stigmata form and occlusion. and inferior dental and
infraorbital nerves
as well as in a unique way in the oral cavity and pharynx. Interference with growth.
Early recognition is helpful as this is an accessible area and
easily visible to the clinician. There are a variety of benign
and malignant tumours which may present in the head and CONGENITAL DEFORMITY
neck and many of the commoner ones are associated with
Craniofacial Deformity
the teeth as well as other dysplastic conditions peculiar to
the jaws and oral mucosa. Oral ulceration is common and After cleft lip and palate probably the most important
various dermatological conditions present characteristically conditions to consider are the craniosynostotic deformities
in the oral cavity. (Box 33.2.1). These primarily affect the cranium but when
The age of the child is an important factor as growth may be the base of skull is involved growth of the mid-face is
rapid, for example, with bony lesions, e.g. cherubism and impeded. Premature fusion of the sutures may occur prior to
vascular anomalies. Others involute and cease as growth birth and when a single suture is affected such as the sagittal
completes. With discrepancies in jaw size and some bone suture an increase in length of the head (dolichocephaly)
dysplastic conditions it may then become worthwhile to wait will occur with growth of the brain continuing until
until growth has ceased before correcting those deformities. approximately 15 months postpartum (Figs 33.2A to C
Other conditions require early correction otherwise normal and 33.3A to C). If the coronal suture is affected then
growth may be affected when the temporomandibular Box 33.2.1: Craniofacial deformity
joints are involved. When conditions such as aggressive
Craniosynostosis and related syndromes
bromatosis and cystic hygromata present they require Craniofacial clefting defects
early major surgical procedures to reduce the risk of Craniofacial microsomia
residual deformity (Box 33.1) and involvement of the Treacher-Collins syndrome
Other malformations.
airway or major neck vessels.
A B C
Figs 33.2A to C: Craniosynostosisskull deformity: (A) Metopic; (B) Sagittal; (C) Coronal
Paediatric Maxillofacial Surgery 729
A B C
Figs 33.3A to C: Craniosynostosis: (A) Plagiocephaly; (B) Coronal; (C) Kleeblattschadel
there tends to be a brachycephalic deformity and various growth of the face (plagiocephaly) (Figs 33.4 and 33.5A
combinations of premature fusion will result in abnormal and B). Growth will cause deviation of the face towards the
cranial development, for example, with early fusion of the unaffected side which is particularly difcult to correct at a
coronal and sagittal suture, there is likely to be a degree later stage, whereas if release of the suture can be achieved
of turricephaly and when just one-half of a coronal suture before 1 year of age, this deformity can be circumvented
fuses prematurely there will be signicant asymmetric (Box 33.2.2). Syndromic craniosynostosis (Box 33.3) for
730 Hutchison's Paediatrics
A B
Figs 33.5A and B: Metopic synostosis correction
A B A
C D
Figs 33.6A to D: Crouzon deformityearly treatment and late result B
Figs 33.7A and B: Le Fort III sub-cranial (red) and trans-cranial
(blue) and Le Fort (green) osteotomies
A B C
Figs 33.8A to C: Crouzon syndrome patient treated with sub-cranial Le Fort III mobilisation followed by mid-face distraction osteogenesis. Up-
per eyelid ptosis still present for upper lid corrections
732 Hutchison's Paediatrics
with small bone plates and the defect lled in with a cranial
bone graft. Generally speaking in the older child the aim will
be to correct nally all deformity problems with one single
procedure. Another troublesome feature may be obstructive
sleep apnoea when this is presenting, advancement of the
mid-face at the Le Fort III level will relieve this and avoid
the necessity for a long-term tracheostomy. Gross ocular
proptosis likewise is a strong indication for early surgery
if vision is at risk especially if there is any tendency for
the lids to close behind the globes. Similarly, if there is a B
tendency to raised intracranial pressure with pansynostosis,
further advancement of the frontal bone with release of all
the major sutures and with skull expansion may be necessary
(Figs 33.10A to C). Occasionally a permanent shunt will be
required.
CRANIOFACIAL MICROSOMIA
This is typically a combined rst and second branchial
arch defect which is thought to result from a failure of the
C
neuroectoderm to migrate. It has been shown experimentally
Figs 33.10A to C: Pansynostosiscopper beaten skull deformity prior
in mice that haemorrhage from the primitive stapedial artery to correction. Pansynostosis correction with linear craniotomies and
may give rise to a haematoma and cause this failure which will skull expansion
Paediatric Maxillofacial Surgery 733
A B
A B
C D
Figs 33.11A to D: (A and B) Hypertelorism with encephalocoele cor-
rected, viewed 2 years later (for further surgery); (C and D) Mild hyper-
telorismseen again as an adult C D
Figs 33.12A to D: (A) Severe hemifacial microsomia (HFM); (B) Gold-
result in defective development of the pinna and middle ear, enhar syndrome; (C) Pre-surgical HFM; (D) 10 years post-surgical
mandible, parotid gland, temporomandibular joint and muscles
of mastication. In severe forms, all these structures will be
affected and be either absent or rudimentary. The mid-face Box 33.4: Craniofacial microsomia
sometimes will also be affected with a clefting defect into the Hemifacial microsomia
orbit and posterior maxilla. There will be a conductive deafness First/second branchial arch syndrome
on the affected side (Figs 33.12A and B). In the relatively Goldenhar syndrome (Oculo-auriculo-vertebral dysplasia)
rare bilateral cases, for example, Goldenhar syndrome instead Incidence 1:5,600sporadic, rarely familial
Second commonest congenital facial anomaly after cleft lip and
of a gross unilateral asymmetry, there will be bilateral or a
palate
symmetrical lack of growth occurring in the lower face. It also Areas affected-craniofacial skeleton, neuromuscular tissues, skin
may be associated with vertebral defects as well as dermoid structures, salivary glands, 0.5 branchial arch structures, e.g.
cystic lesions in the superolateral orbital areas. Obstructive ears
sleep apnoea may be an indication for early surgery in the
severer forms of this condition as it is in craniosynostotic CLINICAL FEATURES
syndromes. There are a number of classications of CFM
which are principally based on the range of defects and the These features can be divided into skeletal and soft tissue
severity of those (Omen and Pruzansky). defects.
734 Hutchison's Paediatrics
A1
B3
A2
C1
B1
C2
Figs 33.13A to C: Severe HFM types: A1, A2, B1, B2, B3, C1 and C2.
Five-year post-surgery with DCIA free ap and cleft palate repair, Le
B2 Fort I and right sagittal split mandible
736 Hutchison's Paediatrics
As far as reconstruction of the ear is concerned this is Box 33.5: Mandibulofacial dysostosis
frequently possible if there is a rudimentary ear present and
Also known as Treacher Collins syndrome
this is usually undertaken with rib and costal cartilage. If there Franceschetti-Zwahlen-Klein syndrome
is no ear present and no external auditory meatus sometimes An autosomal dominant inherited condition with variable
it is better to consider a prosthetic reconstruction of the ear penetrance, sporadic mutations also occurincidence 1:10,000
which is held in place with osseointegrated implants behind Areas affected: Skull vault, malars, maxilla and nose with orbital
and palatal clefts.
which a bone anchored hearing aid may also be inserted.
To correct any residual canting of the dental occlusion a Le
Fort I osteotomy of the maxilla may be required once the by clefting defects. Using the Tessier classication these are
mandible has been correctly placed but this is usually left type 6, 7 and 8 and involve the orbit either at the infraorbital
until the teenage period. Again sometimes distraction of the margin or at the lateral border of the orbit together with a
affected maxilla is possible and this may avoid further bone cleft of the zygomatic arch. The clefting defects tend to be
harvesting. symmetrical and extend into the maxillae from the infraorbital
To summarise treatment for the HFM child, careful area or from the frontozygomatic (FZ) suture down to the
planning is required and surgery should be limited to three inferior orbital ssure. The mandible is always abnormal and
or four episodes if at all possible with the nal correction is hypoplastic and joint development is poor. There is also
towards the end of the growth period. It is essential to correct sometimes an associated cleft palate. The clinical features
the vertical position of the ramus of the mandible early so that are characteristic with an anti-mongoloid slant to the eyes
the maximum amount of unimpeded growth can be achieved (Figs 33.14A and B). The skull tends to be shorter anteriorly
for the maxilla as this is often not adequate without additional and often smaller than normal. The posterior cranial length
ramus lengthening surgery. Where there are defects in the may be increased. The orbits themselves are shallow. The
orbit and zygomatic bone these can be corrected at the same malars are markedly hypoplastic and the overlying skin and
time as other surgery is being carried out and usually this soft tissues are reduced in volume and the nose appears to
is in the early teens. To improve the nal appearance after be more prominent in relation to the rest of the face. There
insertion of a free ap the use of liposuction is often helpful is a hair bearing tongue, which extends onto the cheeks
if over corrected or if under corrected the insertion of a de- from the temporal area in 25% of cases. As far as the eyes
epithelialised ap or a small dermal graft and nally removal are concerned, three-quarters of all cases have either true
of the ectopic skin of the free ap replacing it with adjacent or pseudocolobomata affecting the lower eyelids and there
facial or neck skin. The timing of surgery is important and is a lack of eyelashes (cilia) on the lower eyelids. Often,
some advocate this being done early during growth others ophthalmic abnormalities occur extending into the globes.
late to reduce the number of procedures during childhood. The ear pinnas are abnormal, often asymmetric and they tend
This depends on the severity of the deformity if mild it can to have a crumpled appearance and may be accompanied
be left until later particularly if it is only to correct chin by ear tags. The external auditory meatus if present are
and midline asymmetry. Severe hearing defects especially in rudimentary and are often stenosed leading to a severe
bilateral cases should be corrected early with bone anchored conductive deafness as a result of developmental defects of
hearing aids. Severe deformity will require interventional
surgery on a number of occasions during childhood usually
with distraction osteogenesis, costochondral grafts and
osteotomy surgery with soft tissue and ear reconstruction.
Box 33.6: ReconstructionTreacher Collins syndrome This will also bring the mandible forward to improve the
occlusion of the teeth where there is often an anterior open
Normal airway increase in "pharynx" as well project mandible and
chin
bite (AOB). Advancement of the chin with a genioplasty is
Reconstruct/derotate orbit and malar bones helpful also in repositioning the hyoid and it increases the
Normalise dental occlusion size of the oro- and hypopharynx. Due to the severe hearing
Reconstruction of ear defect there tends to be a delay in speech development and a
Correct conductive hearing defectimplants
secondary effect on mental development if early correction
Methods:
Orbital osteotomy
of hearing is not undertaken. Usually, in the rst instance
Maxillomandibular osteotomies this can be with simple conductive hearing aids with a band
Genioplasty and orthodontics across the head but as soon as there is sufcient thickness
Ear reconstruction and implant prostheses of bone in the temporal bone, bone anchored hearing aids
Bone-anchored hearing aids
Soft tissue surgery
should be inserted.
Distraction osteogenesis. This condition can be diagnosed prenatally especially
when there is a family history so that at birth the airway can
the ossicles. The mandible is bilaterally hypoplastic with safely be maintained and if necessary an early tracheostomy
shortening of the ascending rami and body as well as severe can be undertaken. There also needs to be good support for
genial retrusion. The muscles of mastication are present and the family. With modern surgery, a very good reconstruction
this results in a prominent antegonial notch and obtuse gonial of the defects can be anticipated but surgery needs to
angle. There tends to be some malpositioning of the muscles be carefully timed taking into account the necessity for
of mastication in the ramus area. The maxilla tends to have correction of hearing and cleft palate at an early stage. A
a high arch palate and may be cleft. Although it appears good ophthalmic assessment is also essential post-natally
to be prominent, this is essentially in relation to the very during the rst few months. As soon as there is some growth
small mandible and its antero-posterior position is usually of the mandible and when there are airway problems early
acceptable. There are other defects that sometimes occur distraction osteogenesis in the angle region of the mandible is
(Box 33.6). Most troublesome is post-nasal choanal atresia required so that the tracheostomy may be closed at an early
particularly in the infant where there may be severe symptoms stage. Further lengthening of the mandible may be required
of obstructive sleep apnoea. An early tracheostomy may be from 5 years onwards. This would depend on the severity of
necessary especially in Nager syndrome which otherwise the condition and this may be combined with reconstruction
facially closely resembles Treacher Collins Syndrome. of the malar defects and bone grafting of those areas.
Usually, this is now improved by distraction osteogenesis Insertion of bone anchored hearing aids is also important and
of the angle region of the mandible (Figs 33.15A and B). can usually be timed with other surgery. With repositioning
A B
Figs 33.15A and B: Early distraction osteogenesis for airway obstruction
738 Hutchison's Paediatrics
of the mandible, orthodontic treatment is frequently required and juvenile idiopathic arthritis (JIA) which result in severe
due to crowding of the arches and the steep mandibular plane under development of the mandible. As far as the Pierre
angle to achieve a satisfactory occlusion with the maxillary Robin anomalad is concerned, this often appears severe at
teeth. Ear reconstruction may be timed with the move from birth but this is often followed by quite rapid growth whereas
primary to secondary school and similarly rhinoplasties. A in JIA this usually occurs at an older age and results in severe
few years after reconstruction of the malar defects it is often mandibular retrusion and airway problems. As a result of
advantageous to osteotomise the reconstructed malars and to that there may also be ankylosis of the mandible which will
bring them into a more forward position to provide more require joint reconstruction.
normal cheek prominences for the face. Finally, towards It is also important to consider in trisomy 21 (Down
the end of the growth period orthognathic surgery should syndrome), for the high grade patient, correction of the
be considered to correct discrepancies in jaw size and the deformity. Although this is controversial tongue reduction
dental occlusion. In some cases, the temporomandibular followed by simple mandibular surgery and onlay grafts of
joints are grossly abnormal and the condyles are virtually the nose and reconstruction of the eyelids will render the
absent and there is very poor growth in these areas and it is patient more normal in appearance and as a result of that they
usually advantageous to reconstruct the condylar heads with are treated more normally and appear to be more intelligent.
a costochondral grafts on both sides and follow that a few This should only be considered where the parents strongly
years later with distraction of the mandible. However, there request consideration and this should be done with a full
are some risks attached to advancement of the mandible and psychological assessment and in the absence of any other
applying signicant pressure in the temporomandibular joint signicant life threatening pathology.
area as this can lead to ankylosis of the temporomandibular
joint with the consequent necessity later of further recons- INFECTION
truction in that area. The facies of Treacher Collins syndrome
are very similar to that seen in Nager syndrome but that Acute Infections
tends to be a more severe autosomal recessive condition. It is Suppurating infections and large abscesses will spread into
also associated with limb abnormalities. Very severe airway the spaces in and around the pharynx, maxilla and mandible
problems tend to occur and early tracheostomy followed by these are almost always dental in origin and require to be
distraction of the mandible is essential. Both these conditions treated urgently to prevent compromise of the airway or
are best treated in specialised craniofacial units. It is also spread into the retropharyngeal and mediastinal areas.
important to consider genetic counselling for the older child The essence of treatment is drainage of the infection and
and family. treatment with antibiotics (Figs 33.16A and B). When it is
There are many other conditions associated with principally a cellulitis spreading across the oor of mouth
discrepancies in jaw size such as the Pierre Robin anomalad this is extremely dangerous (Ludwig angina). This needs to
A B
Figs 33.16A and B: Maxillary and mandibular dental spreading infection
Paediatric Maxillofacial Surgery 739
be treated aggressively with drainage from the submandibular cultures and monitoring with C-reactive protein (CRP) levels
areas and often intraorally to prevent further spread of are helpful guides to the effect of intravenous antibiotic
infection. It is important to explore all the loculi and this is therapy. This can safely be started before culture results
most easily done with a gloved nger through the incision are available with intravenous penicillin and metronidazole.
into the cavity and drains need to be inserted and a careful If there is pus or signicant swelling, then urgent surgical
watch on the airway during the immediate post-operative intervention and drainage will be required.
period is essential. A tracheostomy should be undertaken Usually, in a child over 45 years of age sub-acute
whenever there is doubt about compromise of the airway. osteomyelitis will present following dental infection with
Swelling in the post-operative period can be severe. Usually, swelling and pain over the mandible and breathing difculties
,a 5-day period of appropriate antibiotics is all that will be and with numbness of the lower lip when the body of the
required after drainage. A microbiology report is essential as mandible is affected. This condition is rare in the maxilla but
resistance to widely used antibiotics is common place. Details acute purulent infections are not uncommon and are usually
of the possible spread of infections into the parapharyngeal dentally related and require drainage. More commonly,
areas are illustrated (Box 33.7). they present as a sub-acute bony infection in the body of
the mandible as a result of dental sepsis and carious teeth
Box 33.7: Orofacial infection especially in the malnourished child and there may be severe
May be bacterial, viral, mycotic or parasitic trismus, swelling, sinuses in the submandibular or cheek
Most serious acute infections around the jaws and face are region (Figs 33.16A and B). Usually, there are mobile teeth
odontogenic in origin present and there is expansion of the mandible. Radiographs
May be localised or spreading. Treated by: (A) removal of the will show a marked periosteal reaction with new bone
cause; tooth, (B) drainage of abscess, (C) prevention of spread
and any necessary and (D) restoration of function formation, sequestra and radiolucencies in the body of the
If systemic side-effects treat with antibiotics, analgesia and mandible. If present for a considerable time, a fracture of
rehydration may be required the mandible may occur and it can be the presenting feature.
If there is trismus, dysphagia or dyspnoea surgical treatment Almost always the organisms are oral organisms which
under general anaesthesia is urgent
Other specic infectionsactinomycosis, tuberculosis, syphilis, respond to treatment with penicillin and metronidazole given
protozoal infections may be complicated by HIV infection intravenously in high doses. Surgical drainage will also need
Spreading streptococcal cellulitis and staphylococcal infections to be established with decortication especially when there are
require specic parenteral antibiotics and often fascial space sequestra and sinuses present. Curettage and removal of the
surgical drainage
Infections spreading into the mid-face may lead to cavernous
sequestra are essential as well as open drainage of the area.
sinus thrombosis and intracranial spread. Where a fracture occurs and there is much loss of bone it is
often helpful to put pins into the adjacent normal mandible
Osteomyelitis on either side of the affected area to hold the mandibular
fragments in the best possible position while healing occurs.
Types of osteomyelitis are shown in Box 33.8. A spontaneous fracture may also occur when treatment
is undertaken with exploration of the affected area. It is
Box 33.8: Bone infections and related conditions
important to preserve the inferior dental bundle and nerve to
Acute osteomyelitis maintain sensation to the lower lip and chin. In tropical areas
Sub-acute osteomyelitis
Chronic osteomyelitis
tuberculosis is common and may also be the cause of a more
Garrs osteomyelitis chronic osteomyelitis as may other infections local to the
Chronic sclerosing osteomyelitis area, e.g. syphilis and HIV associated infections. These will
Osteoradionecrosis need to be identied and treated accordingly. Care should
be taken to avoid involvement of the temporomandibular
Acute infections are rare in the neonatal period; these can joint if at all possible to prevent ankylosis. In the older child
result in osteomyelitis of the mandible or maxilla. In the case more chronic forms of osteomyelitis may occur and non-
of the maxilla, it is almost always haematogenous in origin. In suppurative forms such as Garrs osteomyelitis occurs in
the mandible, especially around the temporomandibular joint, children sometimes following dental extractions a possible
it may be due to ear infection or possibly a septicaemia and initiating factor, with a proliferative osteitis. On radiographs
usually this would be either a streptococcal or staphylococcal punctate granulomata are frequently seen in the mandibular
infection. Failure to recognise and treat this with antibiotics rami in association with a marked periostitis and loss of
early on can result in ankylosis of the temporomandibular normal bony trabeculation. A local lymphadenitis is usually
joints and in the maxilla loss of teeth and bone from the area present. This would appear possibly due to an autoimmune
(Figs 33.17A to D). The child will present with a pyrexia, process but that is not proven. Decortication of the affected
pain and irritability and difculties with feeding. Blood mandible, steroid therapy and antibiotics has a place in
740 Hutchison's Paediatrics
A B C
D
Figs 33.17A to D: Mandibular ankylosis right side from early acute middle ear infection
A
Fig. 33.18: Examination (with a good history)gentle examination
restraint; look for signs, bruising, bleeding, occlusal changes and lac-
erations (chin). Avoid manipulation
the back seat of a car. There are distinct dangers from airbag
damage when they are either restrained or unrestrained in
the front seat. There may also be eye injuries as a result
of this and the chemical substances in the airbag. Ideally
no child under 12 years of age should be restrained in the
front seat. As far as cycling is concerned, helmets do protect
the skull and to some extent the face. The other sources of
injury in the west are skate boarding and sports injuries. In
most cases, these are relatively simple fractures and may be B
treated conservatively. Minor discrepancies are usually well
corrected with healing in the younger child and it is often
only in the teens that more complex forms of treatment are
required in the form of plating and jaw xation. Very often
the teeth are loosened or fractured and every attempt should
be made to retain teeth with appropriate dental treatment.
If the teeth have been avulsed if reinserted within an hour
they will usually be retained and eventually will become
rm. They may require root treatment (Fig. 33.18). Perhaps
most importantly in all cases of trauma, especially in young
children, they require careful examination to exclude non-
accidental injuries and where there is the least suspicion of
non-accidental injury a full examination of the child must be
undertaken looking specically for other injuries. This has C
already been alluded to elsewhere and when a full paediatric Figs 33.19A to C: Radiography: (A) Orthopantomogramright con-
assessment must be made. dyle and left body fractures; (B) PA viewleft mandibular condylar
neck fracture; (C) CT scanright condyle and condylar neck com-
Facial bone fracture imaging is shown in Box 33.10. minuted fractures
B
Figs 33.22A and B: Body fracture mandible. Internal xationadvan-
tagesopen approach, sub-periosteal dissection, anatomic reduction
and improved nutrition. No airway compromise. Increased of compli-
ance
B
of that area. Compound fractures require copious irrigation
Figs 33.21A and B: Complex osteotomy model surgery for
post-ankylotic deformity correction and cleansing of the area. Removal of any non-viable bone
may be undertaken although if clean as much as possible
this is the best approach. It should also be pointed out that should be preserved. For multiple fractures, a simple splint
any form of plating or fracture in the under 6 years old is over the teeth and placement of circumferential wires around
fraught with danger in the body and symphyseal regions of the mandible to hold the splint in place and the fracture
the mandible because there are permanent tooth germs in fragments is often the simplest effective treatment. Elastic
the bone which may be damaged as they lie close to the IMF for traction may be applied between the mandible and
lower border of the mandible. If there is displacement of a maxilla if there is a signicant malocclusion, especially strate
body fracture anteriorly, then small plates placed close to if there is an anterior open bite (AOB). Long-term follow-
the lower border may be necessary preferably only into the up is necessary to ensure growth occurs normally and the
outer bone plate. Often simple intermaxillary xation (IMF) occlusion is maintained without the development of an AOB
and an arch bar attached to the teeth is all that is required. in bilateral fractures. It is also important to keep a watch
If there is severe pain and multiple fractures, immobilisation on the teeth as damage to them, especially when they are
of the jaws with IMF is often effective in relieving that displaced or depressed into the bone may result in failure of
pain. Compound fractures, i.e. all those that involve the eruption and infection. It is also essential to identify fractured
teeth, require prophylactic antibiotic therapy for 3 days. teeth which may initially not be obvious especially in the
Normally, penicillin or metronidazole is the most effective molar region but they are painful or rapidly become so.
and least likely to cause complications. In the older child, Consideration should be given also to the use of resorbable
the indications for ORIF (Figs 33.22A and B) tend to be (polylactide plates) in children.
failed conservative treatment, overriding of fragments with
opening and closing of the jaws, severe loss of ramus height,
Complications of Mandibular Fractures
displacement of the condyle into the middle cranial fossa The common fracture complications in the child are
which requires open reduction and careful mobilisation out malocclusion of the teeth and hypermobility, asymmetry of
744 Hutchison's Paediatrics
the jaw and dysfunction sometimes related to a degeneration there has been road trafc trauma and severe displacement
or severe damage to the condyles. There is a necessity to of the nasoethmoid, this may cause signicant deformity,
maintain good oral hygiene otherwise caries and periodontal especially when accompanied by craniofacial injuries. This
disease lead on to dental infections. Where there is gross is uncommon except in major high velocity injuries and
malunion and displacement of the mandible posteriorly there occasionally in a sporting injury. As most of the nose is
is a risk of impairment of the airway. Damage to the inferior cartilaginous fractures are often difcult to diagnose and
dental nerves may occur and with an external approach there they are easily missed. Simple elevation of the nasal bones
is a risk of damage to the facial nerve and persistent stulae is usually all that is needed to avoid nasal obstruction and
and occasionally Freys syndrome (gustatory sweating). signicant deformity. There may be overlying skin damage.
Severe injuries and post-traumatic stress syndrome may Sometimes intranasal Gelfoam packing is helpful for a week.
occur, especially when there is residual deformity which Follow-up should continue over at least 1 year. Only rarely
will require psychosocial support. It is important to take is open reduction appropriate but septal straightening may
radiographs post-operatively to ensure reduction of the be required. Care should be taken not to remove any bone
mandible has been effective and especially when closed fragments in that situation. Epistaxis may be treated with
management has been undertaken. The usual radiographs an intranasal pack and any septal haematomata should be
required pre- and post-operatively are an orthopantomogram evacuated. Infection rarely occurs. Occasionally, synechiae
(OPT) and a postero-anterior (PA) view of the mandible; may require treatment. Diagnostically conventional
occasionally coronal computed tomography (CT) scans radiographs are unhelpful but for the more severe injury CT
for condylar fractures, and appropriate intraoral views of scanning should be undertaken.
damaged teeth.
Mid-face (Maxillary) Fractures
Nasal Bone Fractures Mid-face and panfacial fractures are rare in young children
The other fractures that sometimes cause signicant due to the lack of sinus cavities and the smallness of the mid-
problems are nasal bone fractures when they occur early face. They are in the older child (Figs 33.23A to E) (Box
in life. With simple breaks, there is no problem but when 33.13) usually associated with the orbits and nasoethmoidal
A B C
D E
Figs 33.23A to E: (A and B) Clinical features Le Fort III fractures with anterior open bite; (C) Anterior open bite; (D) Left orbital displacement
(late stage); (E) Split palate
Paediatric Maxillofacial Surgery 745
Box 33.13: Central middle-third clinical features mandible in which case it may be necessary. Healing is very
rapid with fractures involving the dentoalveolar complex and
Dish face deformity
Bilateral periorbital haematoma
they may require a Le Fort I incision to expose the fracture
Sub-conjunctival haemorrhage sites in the buccal and labial sulci. It is important to retain
CSF rhinorrhoea the teeth and limit the periodontal damage as far as possible.
Diplopia Plating should be considered carefully to avoid damage to the
Infraorbital anaesthesia
Anterior open bite (AOB)retroposition of maxilla and trismus roots of the teeth as well as any underlying unerupted teeth.
It is important with high impact trauma when there are major
facial injuries to assess the extent of the comminution and to
complex and these need to be carefully assessed and reduced,
suspend the soft tissues as there can be signicant soft tissue
avoiding generally open reduction of the nasoethmoidal
damage in these cases. Otherwise, they tend to drag down
complex. There may be airway problems and haemorrhage
and there is commonly an associated head injury. Cervical the lateral canthi and the medial canthi may become detached
spine injuries must be excluded. CT scanning is essential for and need repositioning with screws and micro-plates. As far
diagnosis whereas conventional radiographs may be taken as gun shot wounds in children are concerned, these are rare
and used for the mandible and mid-face, CT scanning in the in the western world but they need to be treated with care,
coronal and axial planes will give details of all the fractures preserving all bone fragments, removing only foreign bodies
present. It is normal to wait a few days, up to 7 days, before and usually waiting before exploration for at least 48 hours
exploration of the fractures by which time most of the for the swelling to settle. Any necrotic tissue will need to
swelling should have settled. For Le Fort II and III fractures be identied and removed and frequently suction drainage
(Figs 33.24A to C), Cerebrospinal uid (CSF) leaks need will also be necessary. Where there is bone loss after limited
to be identied, must stop following fracture xation, but debridement, the removal of dead tissue must be undertaken
prophylactic antibiotics are given to prevent meningitis. as far as possible, ideally with primary closure and with the
With severe craniofacial injuries, a coronal ap is required later opportunity for secondary repair of any major defects
to expose the frontal region and to deal with any intracranial in the oronasal cavities. With orofacial injuries, careful soft
problems. This gives good exposure also to the lateral, tissue repair is necessary with the preservation of all viable
superior and medial orbits and plate xation is widely used soft tissue. Where there is doubt about the vitality of tissue it
and in young children usually micro- or mini-plates will be is important that there is good drainage and the dead spaces
required (Figs 33.25A and B). As far as IMF is concerned, are eliminated to prevent infection and antibiotic cover is
this should be avoided unless there are also fractures of the given in that situation.
A B C
Figs 33.24A to C: Le Fort maxillary fracture lines (adult skulls)vertical and horizontal mid-face fracture patterns: (A) Le Fort I (Guerin fracture)
dentoalveolar fractures; (B) Le Fort II pyramidal fracture? CSF leak; (C) Le Fort III craniofacial dysjunction and palatal split likely, and CSF leak
746 Hutchison's Paediatrics
A
Fig. 33.26: Very small maxillary sinus in a young child
A B
C D
Figs 33.27A to D: Malar complex fractures right sub-conjunctival haemorrhage and left orbital oor blow-out fracture
A B
Figs 33.28A and B: Sensory changes can affect the infraorbital, zygomatico-facial/temporal nerve branches
748 Hutchison's Paediatrics
A B
C1 C2
Figs 33.29A to C: (A) Common fractures sites; (B) Reduction of fractured malar; (C1 and C2) CT/MRI orbital blow-out fracture
tension lines of the face and using them to ones advantage. PATHOLOGY OF THE JAWS AND
Scars along these lines have a better prognosis than when
ADJACENT STRUCTURES
perpendicular to them. A ragged laceration along the skin
tension line can be excised safely but if perpendicular to Finally, there are a number of conditions related to the jaws
that minimal excision should take place. Primary closure which are pathological in nature which are developmentally
should be undertaken within 24 hours. Animal bites tend to related to the teeth and their supporting structures. Cysts
be potentially infected with polymicrobial bacteria. Human are common in relation to teeth and these are frequently
bites tend to have more anaerobic organisms and Bacteroides, periapical cysts associated with dental infection. They may
Staphylococcus aureus and -haemolytic streptococci. These also be developmental such as keratocysts and dentigerous
again require antibiotic prophylaxis. Careful washing of cysts which tend to surround the crowns of unerupted teeth.
the tissues, no scrubbing but washing with betadine, and These erode the bone of the maxilla and mandible and may
a thorough irrigation of the area is very important, with be quite large in size before they give any symptoms. Often
closure in layers. Sutures or cyanocrylate should be used only they when become infected they will start to leak into the
for skin closure. Sutures should be removed by 5 days and oral cavity. Most of these are benign and adequate drainage
where necessary supported with steri-strips. and removal of the cystic lining of the dentigerous cyst will
Paediatric Maxillofacial Surgery 749
A B
C D
Figs 33.30A to D: Neuroectodermal tumour of infancy. Benign aggressive lesion in anterior maxilla at 6 months
allow that tooth to erupt into the oral cavity. Keratocysts teeth. There are often soft tissue lesions in the skin, e.g.
are often found at the sites of teeth particularly in the ramus bromata, lipomata, and epithelial cysts but more seriously
of the mandible. They tend to erode the inner portion of the it is associated with polyposis coli with adenomatous polyps
mandible and require careful removal as they tend to recur. which eventually become malignant after puberty and a
All tissue removed should be sent for histopathology. When total colectomy is required. There are few rare tumours
keratocysts are multiple, they may be associated with the in early life affecting the jaws. In the midline of the
Gorlin-Goltz syndrome or basal cell naevus syndrome. anterior maxilla, the neuroectodermal tumour of infancy is
At puberty they start to develop basal cell carcinomata occasionally seen during the rst year of life as a bluish soft
particularly on the face and upper half of the body. These tumour displacing erupting teeth and here surgical excision
are normally rare at a young age group but by 25 years is curative (Figs 33.30A to D). One serious and more
they are commonly seen in this condition. It is, therefore, common tumour is the ameloblastoma which arises from
important to recognise this syndrome in children early so that ameloblasts cells associated with the development of the
long-term follow-up may be carried out. Another syndrome enamel of the teeth (Figs 33.31A to D). These are locally
that may present in children is Gardners syndrome where invasive jaw tumours which may become quite large. They
there are multiple osteomata, often affecting the jaws and do not normally metastasise but are locally invasive and can
facial bones and frequently accompanied by supernumerary spread into the soft tissues, for example, from the maxilla
750 Hutchison's Paediatrics
A B C
tumours (histiocytosis X) may present in the jaws and skull
(Figs 33.33A to C). With surgical excision, radiotherapy and
chemotherapy many of these are curable. There are other
benign enlargements which affect the jaws such as osteomata,
ossifying bromata (Figs 33.34A to C) and brous dysplasia
of bone (Figs 33.35A to D). The latter may be monostotic
or occasionally polyostotic or as in the McCune Albright
syndrome a rare variant, the diagnosis is primarily clinical,
early menarche, caf-au-lait patches and gross brous
dysplastic bone conrmed by histopathology and radiology,
occasionally fractures occur, foramina in the skull may tend
to narrow causing pain and cranial nerve symptoms. Surgical
reduction of bony overgrowth after puberty can improve the
appearance.
D
Figs 33.31A to D: Ameloblastoma arising from
a dentigerous cyst
A B C
Figs 33.33A to C: Hand-Schuller christian diseaselesion in left mandibular ramus (histiocytosis X)
A B C
Figs 33.34A to C: Ossifying bromarapidly growing benign neoplasm of the right mandible
Following resection for locally invasive lesions, the province of the neurosurgeon but reconstruction will be
reconstruction of the defect may either be by bone graft usually needed by the maxillofacial surgeon.
from the ileum or alternatively by the use of distraction.
Sizeable bony defects may be closed in the mandible in VASCULAR ANOMALIES
this way. It is helpful to maintain the normal position of They are common in children and frequently affect the
the fragments after resection has been undertaken so that the face and oral cavity. They are dynamically classied into
form/shape of the mandible may be maintained and this is most low-ow haemangiomas and high-ow arteriovenous
easily achieved with the use of pins into the adjacent normal malformations (AVMs) and there is an intermediate group.
bone prior to the resection or by reconstruction plates. There The difference between them is that haemangiomata
are other rare lesions of the jaws such as giant cell tumours, histologically show an increase in endothelium and mast
aneurysmal bone cysts and other growth abnormalities. The cells whereas malformations have normal endothelium and
latter is seen occasionally with gigantism and acromegaly. mast cells. In addition to that, there is a tumour group of
From time to time, a meningocoele and craniofacial clefting haemangiopericytoma, chemodectoma, glomus tumours and
defects involve not only the naso-orbital area but also the angiosarcomata. AVMs include port-wine stain, Sturge-
maxilla itself. Management of these conditions is largely in Weber, Beckwith-Wiedemann and Mafucci syndromes, as
752 Hutchison's Paediatrics
A B C
well as post-traumatic malformations. In infants the rst
sign may be a red mark on the face which develops into
a strawberry naevus which grows rapidly, stabilises and in
70% involutes around 7 years of age leaving a small scarred
area. Treatment is usually not required unless, for example
it presents on an eyelid and interferes with vision or is on
the lips/nose and ulcerates, bleeds, or becomes painful or
infected, when treatment with cryo/laser therapy or excision
can be helpful. Other rarer lesions are Kasabach-Merritt
syndrome and haemangiomatosis which can be complicated
by disseminated intravascular coagulation problems. The
jaws (Fig. 33.36) are relatively rarely involved in AVMs.
D Investigation of these by CT scanning, angiography and MRI
Figs 33.35A to D: Fibrous dysplasia of left maxillacontinues to will identify high ow lesions these require embolisation
grow usually till growth has ceased of the affected vessels and surgical removal 48 hours
later. A variety of agents are available for highly selective
embolisation, e.g. gelatine sponge, collagen, alcohol, PV
(polyvinyl) particles, coils and balloons. For other lesions,
e.g. haemangiomata intralesional steroids, hot hypertonic
saline, sclerotherapy, laser therapy and tattooing with
titanium oxide are widely used.
CONCLUSION
Paediatric maxillofacial surgery is an area of special interest
which requires the close co-operation of several paediatric
specialties, anaesthetists and a committed maxillofacial
surgeon who frequently needs the help of the paediatrician
and the skills of ophthalmic, neurosurgical and ENT
Fig. 33.36: Haemangioma of the left mandible colleagues.
Phyllis Kilbourn, Rosemary Sabatino
C H A P T E R
A Prescription for Play 34
INTRODUCTION lives, health and level of development. From observing their
play we learn how children think, feel and believe. Play also
Play! What a wonderful wordthe very essence of childhood! can tell us of a childs pain, conflict and insecurity. Those
For those whose family saw the importance of play, it calls who value the personhood of children should also value the
up memories of our own childhood years when playing was play of children.
the main focus of our waking hours. Will you play with
me? is one of the most expressive, expectant questions IMPORTANCE OF PLAY
asked. The query carries with it a hope and anticipation
about a time of fun and make-believe, a world of adventure Play allows children the chance to explore their environment,
and exploration, the world of the child. Play becomes an to learn how it works and how they relate to it. A child
activity in which the child takes control, is motivated from can express feelings and emotions through various types of
within and uses his or her imagination. The absence of play play activities (games, art, stories, etc.) far earlier than they
is viewed as an obstacle to the development of healthy and can express them in words. For older children, play may be
creative individuals. For this reason, play is important for the outlet through which they convey emotions that they are
health care providers to consider and prescribe play as a vital either unwilling to share verbally or do not have the sufficient
intervention that facilitates healthy childhood development vocabulary to express. Through play children can be anyone,
and learning. at anyplace, at anytime.
Play is how children reconstruct their world in order to
DEFINING PLAY understand and master it. To be a child is to be little and
powerless; someone big always has charge, telling you what
Play for children has been likened to work for an adult. It is to do.
what they do. Through play children learn about their world In play children are autonomous; they are independent.
and the things in it. They make the decisions, solve the problems and deal with
Play also has been likened to a childs rehearsal or the consequences. As Piaget1 has said, autonomy should be
practice for life since through play a child finds the root the aim of education and to understand is to invent. In play,
of future successes. During play children can switch roles, children are autonomous inventors.
control situations and experiment with a variety of scenes
where they can be the authors, stars and directors of their DESCRIPTION OF FORMS OF PLAY
world. Research has shown that if children can play well,
they will adjust well as adults. Play takes many forms. Children play when they sing, dig
The dynamic process of play develops and changes, in the mud, build a block tower or dress up. Play can be
becoming increasingly more varied and complex. Considered purely physical (running, climbing, ball throwing) or highly
a key facilitator for learning and development across intellectual (solving an intricate puzzle, remembering the
domains, play reflects the social and cultural contexts in words of a song). Play also can be creative using crayons,
which children live. clay and finger-paint. Plays emotional form is expressed
Play is a window to the childs world and the adult who when children pretend to be mummies, daddies or babies.
knows the value of play is committed to learning about Skipping rope with a friend or sharing a book are examples
children while they play. Play tells us much about childrens of the social side of play.
754 Hutchison's Paediatrics
Sensorimotor Play (Baby and Toddler Play) take on roles and transform objects as they express their
ideas and feelings about the social world.
Even infants and toddlers enjoy play and develop through it.
Action plans are blueprints for the ways in which actions
Babies spend lots of awake time exploring the world through
and events are related and sequenced. Family-related themes
play. To adults, it might look like the baby is just playing
in action plans are popular with young children, as are action
around. In fact, the baby is learning many new skills. For a
plans for treating and healing, and for averting threats.
baby, play is the best time for learning.
Roles are identities children assume in play. Some roles
In what Piaget2 aptly described as sensorimotor practice
are functional, necessary for a certain theme. For example,
play, infants and toddlers experiment with bodily sensation
taking a trip requires passengers and a driver. Family
and motor movements, and with objects and people. By 6
roles such as mother, father and baby are popular and are
months of age, infants have developed simple but consistent
integrated into elaborate play with themes related to familiar
action schemes through trial and error and much practice.
home activities. Children also assume stereotyped character
Infants use action schemes, such as pushing and grasping,
roles drawn from the larger culture, such as nurse, and
to make interesting things happen. An infant will push a ball fictional character roles drawn from books and television
and make it roll to experience the sensation and pleasure of such as Spider Man. Play related to these roles tends to be
movement. more predictable and restricted than play related to direct
As children master new motor abilities, simple schemes experiences such as family life.
are coordinated to create more complex play sequences. By the age of 4 or 5 years, childrens ideas about the social
Older infants will push a ball, crawl after it and retrieve it. world initiate most pretend play. While some pretend play
When infants of 9 months are given an array of objects, they is solitary or shared with adults, preschoolers pretend play
apply the same limited actions to all objects and see how they is often shared with peers in the school or neighbourhood.
react. By pushing various objects, an infant learns that a ball To implement and maintain pretend play episodes, a great
rolls away, mobile spins around and a rattle makes noise. deal of shared meaning must be negotiated among children.
At about 12 months, objects bring forth more specific and Play procedures may be talked about explicitly, or signalled
differentiated actions. subtly in role-appropriate action or dialogue. Players often
A toddlers second year brings a growing awareness of make rule-like statements to guide behaviour (You have to
the functions of objects in the social world. The toddler puts finish your dinner, baby). Potential conflicts are negotiated.
a cup on a saucer and a spoon in his/her mouth. During Though meanings in play often reflect real world behaviour,
the last half of this year, toddlers begin to represent their they also incorporate childrens interpretations and wishes.
world symbolically as they transform and invent objects Preschoolers learn differently from school-age children.
and roles. They may stir an imaginary drink and offer it to Play is essential to their early learning and is the main way
someone. Adults initiate and support such play. They may by which children learn and develop ideas about the world.
push a baby on a swing or cheer its first awkward steps. It helps them build the skills necessary for critical thinking
Childrens responses regulate the adults actions. If the and leadership. It is how they learn to solve problems and to
swing is pushed too high, a childs cries will guide the adult feel good about their ability to learn.
towards a gentler approach. In interactions with adults such Children learn the most from play when they have skilled
as peek-a-boo, children learn to take turns, act with others teachers who are well trained in understanding how play
and engage others in play. contributes to learning. Most child development experts
Toddlers play well on their own (solitary play) or with agree that play is an essential part of a high-quality early
adults. They begin solitary pretend play around 1 year of age. learning programme. Play is not a break from learningit is
During the toddler years, as they become more aware of one the way young children learn.
another, they begin to play side by side, without interacting The preschool years bring many changes for children in
(parallel play). They are aware of and pleased about other relation to social development. Children have more quality
persons, but are not directly involved with them. During this relationships outside the home and have a growing ability to
second year, toddlers begin some form of coordinated play, play with other children. When children verbalise, plan and
doing something with another child. This form is similar to carry out play, cooperative play is established. This is the
the preschoolers associative play.3 most common type of peer interaction during a childs pre-
school years.4
Early Childhood (Pretend Play) Construction play with symbolic themes is also
As children develop the ability to represent experience popular with preschoolers, who use blocks and miniature
symbolically, pretend play becomes a prominent activity. In cars and people to create model situations related to their
this complex type of play, children carry out action plans, experiences. Rough and tumble play with a lot of motion is
A Prescription for Play 755
popular with preschoolers. In this play groups of children PLAY: AN ESSENTIAL ELEMENT IN CHILD
run, jump and wrestle. Action patterns call for these
DEVELOPMENT
behaviours to be performed at a high activity level. Adults
may worry that such play will become aggressive and they Practices and paradigms of what would be considered good
should probably monitor it. Children, who participate in child rearing and teaching have been debated, shifted,
this play become skilled in their movements, distinguish embraced and discarded over the years, yet basic concepts
between real and pretend aggression and learn to regulate still remain. One of them is the childs intrinsic desire and
each others activity. tendency to play, which transcends age, time, culture,
ethnicity, geography, socio-economic circumstances and
School-Age Play: Structured or Spontaneous abilities.5 Acknowledging the childs inherent need to play,
School-age childrens playful activities can occur in two and that it effectively fulfils his desire to explore, learn and
forms: (1) structured and (2) creative. Structured play tends discover, is key to understanding that play is a building block
to focus on a childs physical skill, natural talent or mental as essential to healthy child development as are food and rest.
According to early childhood specialist, Eric Strickland
abilities to successfully engage in or with the game. Therefore,
Play involves the whole child. Play builds physical skills (such
structured play is extremely beneficial to the physical, mental
as balance, agility, strength and co-ordination), cognitive skills
and social development of a child and should be encouraged
(including language, problem solving, strategising and concept
and practiced. Such a plan enables a child to gain skills,
development), social skills (sharing, turn-taking, cooperation
knowledge and self-confidence.
and leadership) and the components for emotional well-
Structured play includes sports, board games and simple
being (joy, creativity, self-confidence and so on). It is the
fun events such as jump rope or marbles. Regardless of the fundamental process underlying most of the learning children
games complexity or intensity, set rules govern the proper do before they come to school.6
way to play. A childs unique personality is confined within
the boundary of the rules. Physical Development
Most play is unstructured and happens naturally when
opportunity for play arises. Such spontaneous play is the Because play often involves physical activity it aids in the
development and refinement of both gross and fine motor
unplanned, self-selected activity in which children freely
skills for children of all ages. This process can be observed
participate. Childrens natural inclinations are towards
as infants playfully begin to explore their world and are
play materials and experiences that are developmentally
given room to roll, scoot and eventually crawl. Babies enjoy
appropriate. Therefore, when children are allowed to make
reaching for small objects like mobiles, streamers, rattles
choices in a free play situation, children will choose activities
and small toys and as a consequence even begin to develop
that express their individual interests, needs and readiness
some of the finer motor skills like hand-eye co-ordination.
levels. Throughout childhood, as children vigorously and
Dramatic play or imaginative play is a common form joyfully use their bodies in physical exerciserunning,
of spontaneous play. Here children assume the roles of jumping, skipping, climbing or throwing a ball, etc.they
different characters, both animate and inanimate. Children are simultaneously releasing energy and developing muscles,
identify themselves with another person or thing, playing balance and skills that will help them feel confident, secure
out situations that interest or frighten them. Dramatic play and self-assured. As they gain increasing control over their
reveals childrens attitudes and concepts towards people and bodies, and develop awareness of the space around them they
things in their environment. Much play of this sort addresses learn to move safely and confidently in their environment.
a childs sense of helplessness and inferiority. Through In addition, during play children gradually become more
dramatic play, they are the big superhero, capable of any adept at actions that involve different parts of the body. As
feat! they increase their skill at manipulating malleable materials
Creative play engages the imagination. Creative play is the and small items of equipment, they are also aiding the
natural childlike ability to express ones personality, feeling development of their small muscles. Fine motor control
and attitudes with imaginative words and actions. This play and hand-eye co-ordination are needed, for example, to
focuses on having fun and sharing in a relationship by using build a tower of blocks, complete a jigsaw puzzle, draw a
the imagination. A childs ability to make-believe adventures, picture, manipulate play dough or interact with small toy
activities or eventsnot game rulessets the limits of the figures. Large construction toys can help childrens muscular
game. Participants win by playing with imagination rather development through any lifting, carrying, stretching or
than by competing successfully against each other. A childs balancing they may do, and throwing and catching a ball will
skill, strength, intelligence or age is of no consequence. develop fine gross motor skills.7
756 Hutchison's Paediatrics
No one is more convinced of the effects of play on learning of a new set of rules in a game. For example, in the case of
and a childs physical development than education officials construction play when children are building something with
in Wales who introduced a play based curriculum for 37 others, they need to be able to form an understanding of
years old in 40 schools throughout the country with physical instruction. The same can be said of board games, where the
activity as the foundational phase. According to Wales explanation and understanding of the rules or instructions
officials, who see play as a vehicle for learning, the physical can aid the development of language skills.
activity phase is of prime importance because it impacts all Finally, research indicates a strong relationship between
other areas of learning. For example, they consider activities play and cognitive development. In her extensive study
like legos, painting and pegboard as prewriting experiences, on the effects of pretend play and cognitive development,
since fine motor control is prerequisite to holding a pencil Doris Bergen of Miami University concluded, There is a
properly in order to make marks on a paper and later produce growing body of evidence supporting the many connections
precise writing patterns, letters and number.8 between cognitive competence and high-quality pretend
Recent findings from research on the brain and learning play. If children lack opportunities to experience such play,
have bolstered the importance of play as having a physical their long-term capacities related to metacognition, problem
impact on children. It is well known that active brains solving and social cognition, as well as to academic areas such
make permanent neurological connections that are critical as literacy, mathematics and science, may be diminished.
to learning, and inactive brains do not make the necessary These complex and multidimensional skills involving many
permanent neurological connections. Research on the brain areas of the brain are most likely to thrive in an atmosphere
demonstrates that play is a scaffold for development, a rich in high-quality pretend play.10,11
vehicle for increasing neural structures, and means by which
children practice skills they will need later in life. These Social and Emotional Development
findings raise the importance of play to a more serious The American Medical Association believes that the majority
exercise that has a powerful impact on physical as well as of a childs social skills come as a result of play since play
cognitive development. enables children to interact and respond to others from an
early age.12 Children, like all human beings, have a basic
Cognitive Development need to belong to and feel part of a group and to learn to
Have you ever watched children at play? If the answer live and work in groups with different compositions and
is no, then try it some time. You will notice how totally for different purposes. Play serves as a wonderful avenue
absorbed they become in what they are doing, and their vivid for children to satisfy these needs and to develop social and
imaginations and clever ideas will amaze you. They approach emotional life skills. Children of all ages need to be socialised
play with intense focus and inquiring minds. as contributing members of their respective cultures,
No wonder then that practically all forms of play engage and playing with others gives children the opportunity to
and enhance the development of cognitive related skills match their behaviour with others and to take into account
including imagination, creativity, problem solving, sorting viewpoints that differ from their own.
and using information, and negotiation skills with peers. Through play children can develop social skills, such
For example, block building, and sand and water play lay as sharing with others, waiting their turn to do something,
the foundation for logical mathematical thinking, scientific learning how to co-operate and how to lead and follow.
reasoning and cognitive problem solving. Children learn about themselves and others through
Play fosters creativity and flexibility in thinking. Play has play. By pretending, daydreaming, imitating others and
no right or wrong way to do things; a chair can be a car or a having a good time, children learn to recognise their feelings
boat, a house or a bed. Pretend play fosters communication, and how to deal with them. In pretend play, children can
developing conversational skills, turn-taking, perspective be disobedient or uncooperative without getting in trouble.
taking, and the skills of social problem solving or persuading, They can confront and overcome fears and, when under
negotiating, compromising and co-operating. Pretend play stress, play helps them forget their worries and gives them a
requires complex communication skills; children must be chance to feel more in control of their world. At all levels of
able to communicate and understand the message, this is development, play enables children to feel comfortable and
play. As they develop skill in pretend play, they begin to in control of their feelings by: (i) allowing the expression of
converse on many levels at once, becoming actors, directors, unacceptable feelings in acceptable ways and (ii) providing
narrators and audience, slipping in and out of multiple roles.9 the opportunity to work through conflicting feelings. In fact,
We can see that play can have a beneficial effect on a children who play more seem to be happier and healthier.13
childs development in the area of language. Through play More than a respite from structured learning experiences,
children learn to ask questions or to develop an understanding play is the cornerstone of learning and an integral link in
A Prescription for Play 757
the chain of healthy child development. As Dana Johnson, Emphasise that active child-centred play is a time-tested
leading child play therapist puts it, Play fosters the growth of way of producing healthy, fit young bodies
healthy children in every aspect of developmentphysically, Emphasise the benefits of true toys such as blocks and
cognitively, socially and emotionally. It really is food for dolls, with which children use their imagination fully,
childrens bodies, minds and spirits. over passive toys that require limited imagination
Educate families regarding the protective assets and
THE DANGERS OF PLAY DEPRIVATION increased resiliency developed through free play and
some unscheduled time
Sadly, in many parts of the World children are losing, and
Reinforce that parents who share unscheduled
many have lost, the opportunity to engage in the crucial
spontaneous time with their children and who play with
activity of play. Child soldiering, trafficking, exploitation,
their children are being wonderfully supportive, nurturing
abuse and abandonment are just some of the reasons that and productive
children, even at an early age, are being stripped of the Support parents to organise playgroups beginning at an
fundamental rights and necessities of a meaningful childhood. early preschool age
In the United States, and many other countries, the emphasis Support children having an academic schedule that is
on academic achievement and testing, the predominance of appropriately challenging and extra-curricular exposures
computer and electronic games, and the increased incidence that offer appropriate balance.
of highly scheduled children in extra-curricular activities have
diminished the importance of, and time allotted for, adequate ADVICE FOR PARENTS (OR CAREGIVERS)
and purposeful play experiences both in the classroom and at
home. The effects of this could be far reaching. Allow for exploration: Children play using their entire
bodies and all of their senses. Let them see, hear, touch,
No Time for Play smell and feel things to try them out. This means lots
of supervision and regular checks to make sure they are
According to a study published by Dr Kenneth R Ginsberg
exploring safely.
and the American Academy of Paediatrics in 2006, a survey
Watch your child play: Be prepared for surprises! While
conducted by the National Association of Elementary School
watching your child play, you learn a lot about their
Principals in 1989 found that 96% of surveyed schools had at
interests, attention span and skills. Your observations tell
least one recess period. A decade later it was found that only
you how to play with your children and when to offer
70% of even kindergarten classrooms had a recess period. In
new playthings as they grow. Youll also find the best
addition, since the introduction of the No Child Left Behind
time to join in.
Act of 2001, the amount of time committed to recess, the
Accept invitations to play: Young children usually spend
creative arts and even physical education has been reduced
most of their time with parents and caregivers. Children
considerably.
may include you in their play naturally. Be ready to join
This change may have implications on childrens in, but avoid taking over. Remember that children learn
ability to store new information, stated Ginsberg, because and enjoy more when they stay in charge of their own
childrens cognitive capacity is enhanced by a clear cut play. When adults respect children as they play with
and significant change in activity. In addition, the reduced them, children play longer. This increases their attention
time for physical activity may also account for the present span. Children learn more and show more advanced play
discordant academic abilities between girls and boys, since when they have chances to play with adults.
boys find it more difficult to navigate in that environment. Provide play space: Small children need room to play. If
The Academy recognises that play is important for your home or yard is unsafe or too small, find a park to
optimal child development. It further endorses the position play in several times a week. At home, teach your child
that every child deserves the opportunity to develop their the house rules and allow him to play in spaces where he
unique potential and urges all children to advocate to press can jump, climb, crawl and creep safely.
for circumstances that allow each child to reap the advantages Provide playtime: Young children play all the time.
of play.14 Routines like bathing, eating and dressing can be just as
The American Academy of Paediatrics has the following much fun and adventurous as trips to the park. Allowing
advice that can be applied worldwide: a little extra time for everyone to have fun during
Promote free play as an essential part of childhood these routines helps children develop a sense of time
Emphasise the advantages of active play and discourage management and responsibility. This can help them now
parents from the overuse of passive entertainment with their play skills and later in school and at work.
758 Hutchison's Paediatrics
Provide play materials: Children can create their own for all children. For a child to be restored to emotional
fun with crumpled paper, pots and pans, large cardboard health, they need to communicate their trauma stories and
boxes, play dough, paper, crayons and bubbles. Arrange their feelings surrounding the event. Play is a major key in
a place for playthings where children can select them. facilitating a childs communication.
A shelf is better than a clothes basket so children dont
have to search for playthings. It also makes it easier for EMOTIONAL ISSUES STEMMING FROM TRAUMA
them to learn clean-up skills. When children lose interest
Trauma-produced emotional problems, along with the
in certain toys and other play materials, put those objects
resulting losses and stress, lead to behavioural and emotional
out of sight. Bring them back out a few weeks or months
issues including psychosomatic illnesses such as headaches
later. You may notice the children now use the toys
or stomach aches. Often the physical symptoms are the
differently because they have learned new skills.
bodys last attempt to communicate when all other channels
Encourage different types of play: Young children learn
of communication are blocked. The children are attempting
from many kinds of play. Encourage both quiet and
to convey their need of someone to understand that they are
active play. Encourage your children to play outdoors
hurting, sad or afraid. Children have a tolerance level for
as well as indoors. Find ways to let them use their big
just how much sadness they can deal with before the body
muscles (legs, arms) and small muscles (fingers, toes).
reacts. Because emotional symptoms can cause real pain
Let your children practice and repeat activities. Use
within children, they often are misdiagnosed as having a
words to explain what is happening when they play.
physical illness. Emotional pain, however, wont go away
Through creative play, health providers and parents are
just by giving a child medicine.
given the unique opportunity to speak to a child in the language
Normally, children who experience or witness extreme
he or she understands and loves. Speaking in their language
threat or trauma respond with symptoms that fit into four
results in strong bonding and building of relationships.
general categories:
1. Having strong memories that repeatedly intrude on their
PLAYS ROLE IN EMOTIONAL HEALTH
normal functioning.
We have had an in-depth look at plays role in contributing 2. Engaging in endlessly repeated behaviours.
to childrens healthy growth and development. It has been 3. Developing trauma-specific fears.
well documented that therapies using play also have a vital 4. Changing their attitudes about friends, family, life in
role in childrens recovery from the deep emotional pain they general and the future.
suffer from traumatic situations encountered in their homes Children who have trauma-related symptoms need
or communities. Medical providers often witness firsthand opportunities to express their feelings of anger, fear and
the consequences of childrens traumatic experiences when sadness. Often, however, children do not have the words to
they are brought in for treatment after witnessing or having relate what has happened or to express how they feel about
been a victim of a traumatic event. what they experienced. One prevalent trauma that is difficult
Childrens trauma symptoms are often compounded for a child to verbalise is sexual abuse. In this kind of situation
from a variety of abuses stemming from experiences such play activities can become a direct substitute for words,
as becoming orphaned through their parents deaths, being giving children the opportunity to search for and experiment
abandoned to live on danger-filled city streets, forced to with alternative solutions for resolving their emotional pain.
participate in girl child practices, working in dangerous child
labour situations, being sexually exploited, witnessing acts of DEFINING ORGANISED PLAY ACTIVITIES
domestic or community violence, or being involved in war or (PLAY THERAPY)
natural disasters. The resulting fear or terror resulting from
such traumas is so overwhelming that it impacts the childs Organised play for emotional healing entails purposeful,
thoughts, feelings, behaviour and even body functions. guided play (not random play on a playground) that involves
Trauma greatly affects the emotional health of every child. keen observation of what is being acted out and a sensitive
The fundamental basis of successful emotional healing interpretation. Although play therapy requires professional
in these children is directed towards one basic principle training, special training is not necessary to assist a child in
restorative intervention should begin where the child is a play situation if the adult has an open respect for children
emotionally, cognitively and spiritually traumatised. To and their play does what seems or feels helpful for the child.
obtain this information about a child, it is critically important As in observing emotionally healthy children, much can be
to have knowledge of healthy childhood development and to learned by watching a child at play, looking at his drawings
remain aware that play is the primary form of communication or watching a child-produced drama.
A Prescription for Play 759
PLAY: A MEDIUM OF COMMUNICATION express their emotions and to engage in drama, art (drawing,
painting or colouring) or other forms of expression such as
Children who have experienced deep trauma must be able to dancing or singing. In the playroom, toys are viewed as the
talk about their feelings before healing can occur. Talking childs words and play as the childs language - a language
is the starting point of a childs healing process. Childrens of activity. Therefore, a careful selection of play materials
ability to talk about the trauma implies that a trusting that allow children to express themselves is a priority.
relationship has been established. If children do not express Emotionally significant experiences can be expressed more
their feelings of insecurity, anxiety, fear, terror, distrust and comfortably and safely through the symbolic representation
sadness, they may bury these feelings deep inside, preventing the toys provide.
their emotional healing. Children who have the opportunity The use of toys enables children to transfer anxieties,
to express their feelings become stronger and more resilient, fears, fantasies and guilt to objects rather than people. In
feeling more secure, valued, loved and loving. the process children are safe from their own feelings and
Talking does not just occur when a child uses words! reactions because play enables them to distance themselves
Talking with children may be through words or through from traumatic events and experiences. There they do
play activities. Play activities are a natural medium for self- not become overwhelmed by their own actions because
expression, facilitating a childs communication. Play, being the act takes place in fantasy. By symbolically acting out
the developmental language of a child, provides children a frightening or traumatic experience or situation through
whose traumas have overwhelmed their emotions and ability play, and perhaps changing or reversing the outcome in the
to cope to have a medium for communication and expression play activity, children move towards an inner resolution.
of their feelings. For children whose trauma has left them They then are better able to cope with or adjust to problems.
stuck in a level of development, guided play can enable them
to move on to the next crucial stage in the cycle of their Art
development. Also since play is a normal part of a childs life Art is a wonderful medium for children to express feelings
and development, children who engage in play therapy are and thoughts too difficult to talk about. Since creating is a less
able to deal with the emotions that are experienced after the direct means of expression, it provides a way for children
traumatic event in a way that is developmentally appropriate to communicate confusing or hurtful thoughts through
for them. imagination rather than words. Drawing pictures depicting their
trauma produced feelings of fear, anger and anxiety not only
METHODS OF PLAY THERAPY helps children identify these feelings but also can lead to the
All children have different needs and different ways of development of healthy coping skills. The goal of art activities
expressing those needs. To accommodate these differences, is for children to better understand themselves through self-
a variety of play activities can be utilised as a means of exploration and a shared interpretation of their own art.
communication and expression of thoughts and feelings.
Some activities, such as a playroom, can facilitate one-on- BENEFITS OF ORGANISED PLAY
one or group sharing. Often a group of children are involved Children need time to open up and share their pain. They also
in an activity such as drawing pictures that depicts the need a trusted person who will listen. Play provides for both
traumatic event and provides clues on how the children feels of these needs. A bond of trust between a caregiver and a
about what happened. child can be developed through interest and involvement in a
The method utilised is determined by culture, the childs play at his or her level. Once the child has established
enormity of the crisis (such as a natural disaster that affected a safe relationship with the caregiver, the child will begin to
a whole village), the type of activity planned or a childs go directly to his or her area of pain and concern through
preference. For all methods children are invited to express play. Therefore, play can be used to help a child talk about
their feelings through an assortment of art media: role play, the traumatic experiences with someone they trust.
drama, drawing, music, sand tray, storytelling, etc. Having Talking helps children process their trauma produced
an equipped play room or use of games and sports are feelings and re-enter their developmental cycles that were
also effective forms of play. The following describes two interrupted by what they experienced. The sooner a child
commonly used activities. can appropriate the healing effects of a play environment
the sooner hope re-enters the childs world of experience.
Playroom Play activities are the main restorative approach for children
A playroom is a room or area that has been especially designed experiencing trauma. Research has shown that if children
and furnished. Children can use toys and equipment as tools to can play well, they will adjust well as adults.
760 Hutchison's Paediatrics
Such activities enable children to express what is going on and needs in a manner or process of expression similar to
inside of them: their fears and anxieties, anger, hurts and adults. Although the dynamics and means of communication
feelings about the traumatic event that has occurred. Play are different for children, the expressions (fear, anger,
activities also allow children to work through the grief happiness, frustration) are comparable to adults. However,
process with a trusted adult. unlike adult therapy that is based on cognitive knowledge,
childrens play activities trade experiences for learned
Play Activities: A Restorative Approach knowledge. Figures 34.1 to 34.12 show games that children
Realising how important play is for the development of play for fun and enjoyment.
the child, we must also recognise the need for providing
traumatised children with a safe place to play, an opportunity References
to play and suitable materials for playthose that will 1. Gordon, Ann Miles, Kathryn, et al. Beginning and Beyond:
stimulate fun and creativity for the child. Foundations in Early Childhood Education. NY and Canada:
Play activities are the main restorative approach for Delmar Publishers; 1989;p.32.
children experiencing trauma because they: 2. Piaget, J. Play, Dreams and Imitation in Childhood. New
are a natural medium for self-expression, facilitating a York: Norton.
3. Available from www.kidsource.com/nature of childs play.
childs communication;
4. Gordon AM, Browne KW. Beginnings and Beyond:
allow for a healing release of feelings; Foundations in Early Childhood Education. California:
can be renewing and constructive; and Delmar Publishers; 1989;p.324.
allow the adult a window to observe the child. 5. Playing for keeps. Available from playingforkeeps.org
A child-centred play activity also is one of the most powerful [Accessed 2005].
ways to help children recapture what was taken away from 6. Strickland, Eric. Power of Play. Early Childhood Today. 2000.
them during the trauma. The losses include a sense of: 7. Rise, Gabriel. Play and Child Development. 2006. Ezine @
Control (in play they are given choices) articles.
8. Teachers TV. Learning Through Play.
Power (they can choose the story line)
9. Lessons in Learning; Canadian Counsel on Learning early
Safety (they are gaining control of their situation) Childhood Research and Practice. 2006.
Trust in adults (when adults honour and value childrens 10. Bergen, Doris. The Role of Pretend Play in Childrens
play, the children are empowered to open up and share) Cognitive Development. Early Childhood Research and
Hope (play can create, re-enact and recreate situations in Practice, volume 4. 2002.
a way that helps children know things can be different, 11. American Medical Association. Available from www.medem.
giving them hope for the future). com
12. Children at Play. The Creativity Institute. Available from
In summary, play gives children the opportunity to share
www.creativity institute.com
their stories through their natural means of communication. 13. Johnson, Dana. When is Play Not Playing. Natural Family
Play also is a childs natural method of learning, developing Online. 2007.
and expressing their feelings. Play becomes a window both 14. Ginsberg, Kenneth R. The importance of play in promoting
to look into and to observe what is going on inside the child. healthy child development and maintaining strong parent-
Given the opportunity, children will play out their feelings child bonds. American Academy of Paediatrics. 2006.
Judy Ann John, Lydia Edward Raj
C H A P T E R
Paediatric Rehabilitation 35
INTRODUCTION the WHO in May 2001. The ICF recognises the complex
dynamic interaction between the health of the child and
Disability in childhood can result from multiple conditions. environmental and personal factors (Fig. 35.1). This has
The two main groups are a problem that arose before or replaced the previous classification of ICIDH (International
as the child was born including genetic problems and those Classification of Impairment, Disability and Handicap). The
acquired after birth. These are listed in Table 35.1 ICF enabled the focus to be shifted from disability (cannot
In medicine, doctors are trained to identify the medical do) to activity (ability to perform a task appropriate to
problem and to manage that problem. Suresh cannot walk age) and from handicap to participation. The emphasis
very well and so cannot go to school. Reading this statement is taken away from the disease to its impact on what the
it looks like it is Suresh's problem and his fault that he cannot child can do, functioning and the childs ability to take
go to school. However, in recent years there has been a part in everyday activities, in play and school. Both factors,
change in how we can look at a person. So, Suresh can walk the childs functioning and participation, will determine the
using his walker but needs the ground to be smooth with no goals of rehabilitation. This information is used to determine
steps. Suresh's classroom is on the first floor and the stairs the extent to which a childs abilities can be improved
stop him from going to school. Here we see that Suresh does through therapy and to what extent the environment can
have a problem. He also has equipment to aid him but the be changed to facilitate the childs performance. Hence,
environment is a major barrier for Suresh. disability in the above example does not reside in Suresh but
The International Classification of Functioning, Disability in his environment, which prevents his participation in his
and Health, also abbreviated as ICF, was approved by community and school.
Table 35.1: Disability in children can result from the following
conditions
Fig. 35. 3G: Gait training with a walker. Ankle and knees are supported
with AFO and knee braces, and partial assistance is needed to propel
the walker. A rod is placed between the legs, during the training period,
to reduce scissoring
carried on through activities in occupational therapy, e.g. ball of the toes, pressure under the metatarsal head,
kicking for quadriceps strengthening. The endurance of these medial arch, a stable ankle position and deep tendon
muscles is improved by increasing the number of repetitions pressure along the tendoachilles. For example, to
of the activity. A record is made of the progress with therapy. stretch the gastrocnemius, a cast is applied below
Upper limb strengthening helps with performing transfers, the knee, keeping the ankle as close to neutral
wheelchair propulsion and use of assistive mobility device. position as possible with the toes in 30 degrees of
Strengthening truncal muscles (Fig. 35.4A) help with static dorsiflexion with gentle moulding of the cast in the
and dynamic (during activity) postural control in sitting and region of the medial arch and tendoachilles, before
standing. it sets. This enables the child to have a stable base to
Neuromuscular electrical stimulation (NMES) is the work on their standing balance and proximal muscle
transcutaneous application of an electrical current to elicit control. In the presence of hamstring tightness, the
repetitive muscle contractions by stimulating the motor next cast should be reapplied extending above the
nerves or motor endplates. This helps in maintaining the knee; this will stretch both the gastrocnemius and
muscle bulk, but is particularly effective when the child is the hamstrings. The casts have to be changed every
able to initiate and enhance the muscle contraction voluntarily week till the desired correction is obtained. Each
during the stimulation. new plaster is placed so the contracture is stretched
(c) Management of impaired muscle tone more each time (Fig. 35.4B). Once neutral position
is achieved, this is replaced by a tone inhibiting ankle
1. Hypotonia: This is seen commonly in congenital
foot orthosis (AFO) with a wedge of microcellular
conditions like Downs syndrome, metabolic syndromes
rubber added in the AFO to keep the toes dorsiflexed
and occasionally in cerebral palsy. Therapy involves
and another wedge to support the medial arch, or an
encouraging weight bearing and improving muscle power
AFO with a knee gaiter (Fig. 35.3F) or a KAFO
across the joints to help with stability. In cases with
(knee ankle foot orthosis) (Fig. 35.4C) if the knee
severe loss of tone, appropriate seating supports will be
extensors are weak, often in the presence of spastic
needed for head and trunk control.
hamstrings, to prevent a crouched gait.
2. Spasticity: An increase in the tone of muscles can
iii. Pharmacological management: Oral medications
negatively affect the childs functional abilities, such
can be given to control spasticity, when a muscle or
as sitting, standing, walking and other activities of
group of muscles are involved, causing functional
daily living. It can be one of the most difficult aspects
limitation or difficulty with skin hygiene, e.g. when
to manage and the cause of much disability due to
the fingers are clenched so the hand cannot be
pain, functional limitations, difficulty with maintaining
cleaned or the hips are adducted preventing perineal
hygiene and resulting complications like contractures,
care and dressing. Oral medications are beneficial
dislocations and pressure sores. An algorithmic approach
when a large group of muscles are involved but
to the management of hypertonia is presented in Figure
produce systemic side effect, such as fatigue and
35.5. Specific interventions may include the following:
i. Stretching programme: Spasticity in muscles can be
reduced by stretching them and strengthening their
antagonistic muscles, e.g. strengthening of the hip
abductors brings about a reciprocal inhibition in
the adductors, so reducing tone in the adductors.
Stretching can be maintained with an abduction
pillow placed between the knees and used to keep
the knees apart. Orthoses on the lower and upper
limbs can be used to maintain a good range of
movement in the presence of spasticity, e.g. resting
splints for the hands provide a continuous stretch to
extend the finger and wrist flexors and thus help in
reducing tone.
ii. Serial casting and orthoses: Sometimes stretching is
not enough to correct the contracture secondary to
spasticity. Plaster of Paris casts are used to maintain
a continuous stretch on the spastic muscles. Tone Fig. 35.4A: Pelvic bridging exercises by a 14-year-old boy with spas-
inhibition is also facilitated by hyperextension tic diplegia, to improve strength of paraspinals and hip extensors
768 Hutchison's Paediatrics
Fig. 35.4B: Serial above knee casts for correction of knee flexion de- Fig. 35.4C: Standing balance training with KAFO and elbow crutches
formity resulting from uncontrolled spasticity. Ambulation within paral-
lel bars is started once the knee deformities are corrected below 30
degrees
drowsiness. These drugs can occasionally reduce Intramuscular botulinum blocks the release of acetylcholine
the useful tone which helps the child in doing into the neuromuscular junction. This is beneficial in localised
activities. For example, if the tone in the quadriceps muscle group spasticity with the goal of improving a specific
is reduced, the child can experience difficulty with function, e.g botulinum injection into the wrist and finger flexors
standing and walking. At times, children with can help improve voluntary release of objects by reducing
an abnormal swallow and drooling may develop flexor spasticity. Parents need to be explained regarding the
some worsening in these symptoms on starting potential risk of local overflow causing dysphagia and dyphonia
antispasticity medications, with risk of aspiration. and systemic effects causing dyspnoea one to several weeks
Table 35.2 shows a list of commonly used antispastic after the injection. The effects of botulinum toxin injections
medications, their mechanism of action, doses and appear in 13 weeks and wear off by 6 months. The high cost
adverse effects. and need for repeated injections makes this option viable only
Often oral medication is inadequate, cause unwanted side for a select group of children.
effects or seem excessive when only one muscle group is Subdermal implantation of an intrathecal baclofen pump
being problematic. Five percent aqueous phenol can be used enables direct delivery of the drug avoiding the general
for motor point block in muscles or for blocking accessible effects of sedation. However, this is expensive and at least
motor nerves by causing chemical denervation. Nerves with 5% develop infection or other complications, such as pump
no sensory component are preferred to avoid dysesthesia failure.
following the injection. This is an economical and effective
treatment, but the effects are very often permanent so care (d) Management of movement disorders
needs to be taken when deciding whom to treat with this Dystonia is the abnormal posturing of the any of the limbs,
modality. Commonly employed motor nerve blocks in the head or trunk due to sustained or intermittent involuntary
treatment of hypertonia are summarised in Table 35.3. co-contraction of muscles. Dystonia involving the muscles
of the face, mouth, and oropharynx may result in dysarthria
Table 35.3: List of commonly done motor nerve blocks
and/or dysphagia. Speech therapy will teach children how to
Nerve blocked Joint effect and spastic muscle make the sounds of letters and words and give them exercises
(supplied by Nerve) to improve oropharyngeal muscle control. In children with
Obturator nerve block Hip adduction from adductor spasticity dysphagia, optimal positioning in a supported seat with neck
Sciatic nerve block Knee flexion and plantar flexion from in neutral or slight flexion is required for safe swallowing.
hamstring and gastrosoleus spasticity Consistency of the food is altered to thick fluids which are
Peroneal nerve block Ankle equinus from gastrosoleus easier to swallow as compared to thin fluids. In those with
spasticity
oral hypersensitivity, the material of the spoon/cup should be
Femoral nerve block Knee hyperextension or impaired knee
flexion from Rectus femoris spasticity gentle and smooth.
Median nerve block Wrist and finger flexor spasticity (FCR, 1. Positioning: Therapy involves looking for body positions
FCU, FDS, FDP) and sensory inputs which can reduce the dystonia. The
Musculocutaneous nerve Biceps for elbow flexor spasticity ataxic arm will show the greatest degree of past pointing
Abbreviations: FCR, flexor carpi radialis; FCU, felxor carpi ulnaris; when the hand is the greatest distance away from the
FDS, flexor digitorum superficialis; FDP, flexor digitorum profundus trunk. Children soon learn this and are very reluctant to
770 Hutchison's Paediatrics
stretch their arms far from their trunk! This is because as simple movements in the direction where gravity has
the past pointing of the finger is the sum of the abnormal been eliminated and that gradually progress to more
movements across each of the joints that are moving. So complex movements against gravity.
if the shoulder component moves 3 cm, the elbow 3 cm, 3. Pharmacological management: Oral medications used to
the wrist 3 cm, etc. so the hand will move 9 cm. Treating reduce dystonia include tetrabenazine (synthetic benzo
ataxia is about providing a stable base of support to quinolizine), trihexiphenidyl hydrochloride (anticholi
reduce the involuntary movements. A child will be sat nergic) and clonazepam (Benzodiazepine). Tetrabena
in a chair and given support to the trunk and head, the zine acts by inhibiting the uptake of monoamines into
arm will be supported on a table so the only part moving synaptic vesicles and hence diminishes their output at
is the hand itself (Fig. 35.6). Eliminating the need to the synapses. Injection botolinum can be used, if there is
move parts of the body allows them to do tasks with less localised dystonia as in spasticity with a goal of improving
shaking and is a compensatory strategy, but also allows a specific function. Caution should be exercised in the
training to control the distal part. As the child learns to surgical intervention for regional dystonia as it may
control the hand better, less support is given to the wrist cause a worsening of deformity in the opposite direction.
and once this is better controlled, support is removed
from the elbow. Activity Focused Intervention
2. Therapy for balance and co-ordination: The visual, This involves structured practice and repetitions of functional
vestibular and joint proprioception systems provide the actions that increase independence in daily tasks.
sensory feedback required to achieve postural stability. (a) Self Care
Therapy for balance should also progress in a sequential The things that we do everyday to get washed, dressed, comb
manner, i.e. once head and trunk control is obtained our hair, shave, eat and walk are called activities of daily
then sitting balance can be worked on (Figs 35.3 A to living (ADL). It is important to remember the developmental
C). Therapy is then progressed to balance in standing stage of a child to identify and analyse the tasks which are
(Fig. 35.3D) and kneeling (Fig. 35.3E), and then difficult but meaningful for the child. The components of
standing on a single leg and then walking with a broad the task are then improved through specific therapy aimed at
base to walking on a straight line. Frenkels exercises reducing impairments and activity based task with repetition,
are a series of exercises for co-ordination which begin physical guidance and feedback.
A child learning to feed him/herself needs to be able
to take the spoon to the plate, angle the wrist to then load
the spoon, lift the spoon up to the mouth and put the spoon
in the mouth. The child may have a problem lifting up the
spoon. So exercises can be given to strengthen the ability
to lift the arm. The child can practice feeding using a table
that is higher than normal so the hand does not need to be
lifted up so high. The child may be given a plate with mock
food to practise lifting the spoon without actually eating
the food. The challenge with these activities, is keeping
them interesting. For teaching these skills each component
of the task can be taught through techniques like chaining,
modeling and prompting. In chaining, the child is enabled to
perform one step of the task and the rest are completed by the
caretaker. When the child becomes successful in one step the
child is encouraged to attempt the next step in the sequence
and so on till the whole task is mastered. Prompting involves
use of physical or verbal assistance to help the child to learn
a task. For example the mother holds the childs hand over
the spoon to help him or her to learn to bring food to his/
Fig. 35.6: Supported seating for a child with generalised dystonia her mouth. In modeling the parent demonstrates how a task
involving head, neck, trunk and limbs. Supports are given to hold the
head, trunk and feet in position. This chair will also require an abduc-
should be done and the child learns though imitation.
tor wedge to keep the legs apart. The child is now being trained to For toilet training the parents can be taught to make a
improve the control in his upper limbs schedule according to the childs frequency or pattern that has
Paediatric Rehabilitation 771
been observed over a period of time. The child is taken to the legs are held slightly abducted to reduce adductor spasms
toilet according to this schedule and rewarded appropriately. and reduce the chance of contractures. A child with complex
(b) Behaviour modification physical disabilities needs their positioning to be controlled
Behaviour modification techniques are used for both promoting 24 hours a day.
adaptive behaviour likelearning to dress oneself, feeding, Upright standing systems usually have a table or tray
toilet training and for reducing maladaptive behaviour like attachment that allows the child to play while standing. There
head banging, biting or hyperactivity. Rewarding the child are many varieties all with similar components. The feet are
according to specific principles helps to develop acceptable held in place with straps or blocks; the child's knees are kept
behaviour in the child. Examples of reward include a extended with a strap in front of the knees, the hips are kept
favourite snack, toy, activities likea trip to the park or extended with a strap behind the hips and the body supported
lavish praise. Behaviour modification can also be used for with a strap to a table anteriorly. Standing helps reduce
teaching the child social skills and communication. tone, prevent contractures, improve bone density, facilitate
(c) Positioning the development of normal alignment and ankle, knee and
Appropriate positioning of children with equipment to hold hip joint development. Children should be encouraged to
the childs trunk, head and limbs, promotes their function experience upright weight bearing position as close to the
and participation within the environment. This improves head typical age of standing as possible if they have sufficient head
control, permits greater freedom in use of upper extremities, and trunk control to be aligned correctly.
improves ability to perform ADL, such as eating and dressing; (d) Hand skills
improves postural alignment and decreases fatigue. Seating Hand skills are essential for interaction with the environment.
systems includehigh chairs, strollers, static chairs, car They are required for self care, learning, communication
seats, floor seats and wheelchair. These components which and playing. The following are the general methods for
provide support in any seating system include arm rests, foot intervention:
supports, lap tray, abductor wedge, pelvic belts, calf straps, If a child has poor sitting balance, provide adequate trunk
head rest and cushions which also relieve pressure. The aim control through appropriate seating devices. Then the
is to support the child in a position that makes it easier to childs arms need not support the child and can be free to
do things and/or prevents complications. So the child is sat engage in play, writing, eating etc.
with the head supported and looking forward so they can see Help the child to integrate tactile and proprioceptive
what is going on and to help communication (Fig. 35.7). The stimuli through graded exposure to different shapes,
textures, sizes and a variety of objects. Articles that can
facilitate grasps are spoons, lids, balls, brushes, etc.
Commonly available materials at home that can facilitate
pinches are dry pulses, bottle caps, beads, coins and
pebbles. The various components of hand function are
tabulated in Figure 35.8 with illustrative examples in
Figures 35.9A and B and 35.10.
Reduce impairment in tone, range of motion and muscle
strength, where possible.
Introduce objects early through play. Do these using
objects appropriate to the child's developmental status
and in the sequence that parallels how hand function
develops.
Constraint induced therapy can be used in hemiplegics
where the normal limb is restrained from functional use
so that the child is forced to use the affected limb.
(e) Play
Play is a powerful therapeutic tool as it is the best way a
child learns. Any activity or exercise can be turned to
Fig. 35.7: A 9-year-old child with cerebral palsy (total body involve- play with some aspect of adventure, surprise and freedom
ment) using a wheelchair (which provides head, trunk and feet sup-
port) for mobility in and out of home. Her upper limbs are well sup-
in it. The play activity should be chosen as per the childs
ported on the lapboard and can be used for placing her food, play or level of development with a goal of moving him one step
learning activities further. Toys provide stimulation for a child to play alone or
772 Hutchison's Paediatrics
Fig. 35.9A: A boy with intrinsic muscle weakness of his hand, due to
hereditary motor sensory neuropathy, is able to hold objects with a
Fig. 35.10: A girl with cerebral palsy, practicing bimanual tasks
hook grasp
(threading a string through cylindrical blocks/reels)
Table 35.4: Five dimensions with scoring key to measure gross intervention enables to optimise response to therapy and
motor function prevents complications which further delay rehabilitation.
Items Scoring Key Severity of the Brain Injury is assessed by the Glasgow
(1) Lying and rolling 0 = does not initiate Coma Scale, which rates the eye opening, motor and verbal
(2) Sitting 1 = initiates response on a scale of 315. In severe brain injury (GCS
(3) Crawling and kneeling 2 = partially completes 8), look for response over time to various stimuli like
(4) Standing 3 = completes visual, auditory, tactile, olfactory and proprioception.
(5) Walking, running and jumping NT = not tested Multimodal stimulation programme involves observation of
response to these, to see if child has the ability to localise
difference from needing someone to push a wheelchair to or discriminate these stimuli. Movements are categorised
being independent walking at school. These tools can also be as reflexive, spontaneous (without stimuli) or purposeful.
used as outcome measures in research. Sensory Modality Assessment and Rehabilitation Technique
The gross motor function measure (GMFM) is a (SMART) is a tool designed to assess the patients response
standardised observational instrument designed and validated on a daily basis to optimise opportunity to observe the
to measure change in motor function over time in children potential for functional and meaningful interaction with the
with cerebral palsy. The items are grouped into five environment and plan therapy accordingly. If child is unable
dimensions with the scoring key shown in the Table 35.4. to vocalize, but has consistent voluntary motor responses,
The gross motor function classification system (GMFCS, these can be used as a method to communicate with the child,
expanded and revised, 2007) focuses on the motor
e.g. one blink of the eye can be used to indicate Yes and
performance in home, school and community settings (i.e.
two blinks as No.
what they actually do) rather than what they are known
to able to do at their best (capability). These take into (a) Recovery continuum
consideration the environmental and personal factors that COMA Vegetative state Minimal conscious state
impact the childs functioning. The GMFCS is a reliable and Cognitive impaired states Normal. Child is said to be in
valid system that classifies children with cerebral palsy on coma if eyes are closed all the time and reflexive movements
the basis of the major age-appropriate gross motor activities, are present only to noxious stimuli. A diagnosis of vegetative
with particular emphasis on functional mobility. state is made if eyes are open with sleep-wake cycles,
Level I Walks without limitations reflexive and withdrawal responses are present to stimuli. If
Level II walks with limitations there is any awareness of self or the environment a diagnosis
Level III walks using a hand-held mobility device of minimally conscious state is made.
(Cranes, crutches, anterior and posterior (b) Management of respiratory system
walkers that do not support the trunk Positioning for swallowing is crucial for prevention of
during walking). aspiration. Elevation of the head end of the bed also reduces
Level IV self mobility with limitations; may use the risk of regurgitation at night. Chest physiotherapy which
powered mobility. involves tapping the chest wall beginning laterally going to
Level V transported in a manual wheelchair. the midline and from below going up towards the sternum,
The functional independence measure in children enables the child to clear his/her secretions.
(WeeFIM) is a scale used to assess the daily functional
performance of the child in three domains, i.e. cognition, (c) Posttraumatic seizures
mobility and self care. WeeFIM is categorised into two main There is an incidence of 2039% in the development of
functional streams: "Dependent" (i.e. requires helper; scores early seizures (i.e. within the first week of trauma) and
15) and "Independent" (i.e. no helper; scores 67). antiepileptics are beneficial. Lower GCS and younger
Scales that measure social functioning, participation children are more prone for early seizures. However, there
in leisure and learning activities include the paediatric is no evidence for using prophylactic antiepileptics in the
evaluation of disability scale, the Canadian Occupational prevention of late onset seizures expect, in penetrating brain
Performance Measure (COPM), the Caregiver Priorities and injuries.
the Child Health Index of Life with Disabilities (CPCHILD), (d) Cognitive/Motor deficits
and the Cerebral Palsy Quality of Life Questionnaire for The impairments following a brain injury will depend on
Children (CP-QOL) whether the damage is focal or diffuse and the site involved.
The goal of rehabilitation is to prevent secondary impairments
Acquired or Traumatic Brain Injury
like contractures and to help the child attain the maximum
Interventions are decided according to the severity and possible age appropriate function physically, cognitively
type of neurological/musculoskeletal involvement. Early and socially. As children become more responsive and
Paediatric Rehabilitation 775
interactive specific therapy is given in the area of cognitive toe nail. If high blood pressure persists with these measures,
need (Speech, attention, memory, executive function, an antihypertensive like Nifedepine is given.
visuospatial functioning) or physical need (weakness, (b) Pressures sores
spasticity, hand functions, balance, gait). Concepts for Pressure sore can be prevented by regular position change
therapy for these deficits are similar to what is practiced for every 2 hours in the lying position and lifting up body with
children with congenital brain injury as mentioned in the the support of hand (or by family) every 1015 minutes
section, Developmental delay. while sitting to relieve pressure. Pressure areas like the
Rehabilitation has become a continuum of care, being region of the occiput, sacrum, ischial tuberosity, trochanter,
provided right from the acute care setting till transfer into both knees, heel and scapula should be examined daily. If
the rehabilitation setting or the community and follow-up there is any sign of redness or warmth, immediate measures
thereafter to facilitate acquisition of physical and cognitive should be taken in order to provide complete pressure relief
skills. Early return to school is encouraged. Strategies in that area till the redness disappears. Nursing in prone
need to be planned for the child with learning difficulties. position with foam/pillows to prevent pressure on the knees
An individual education plan can be made with help of the and genitalia is what works best when there are pressure
teachers who regularly communicates with parents regarding sores in the posterior aspect of the body. Pressure relieving
the childs overall performance. orthosis allows ambulation in a patient with chronic heel
ulcer secondary to meningomyelocoele (Figs 35.11A to C).
Rehabilitation in Spinal Cord Injury
(c) Deep venous thrombosis
Rehabilitation goals include prevention and management of Deep venous thrombosis is a complication seen spinal cord
secondary complications and maximising age appropriate injury and presents with swelling of the leg. Elevated D
functional independence as per the level of spinal cord injury. dimmer level is sensitive indicator but a color Doppler is
needed to diagnose DVT. Pulmonary embolism is a life
Spinal Cord Injury Due to Neural Tube Defects threatening complication of this and anticoagulants are
Spinal cord injury due to neural tube defect results in started at the earliest.
asymmetric motor sensory deficits. Muscle imbalances can (d) Heterotrophic ossification
result in deformities which can worsen as the child grows. Heterotrophic ossification (HO) is the abnormal calcification
Kyphosis, lordosis, scoliosis are commonly seen in those with and ossification of soft tissues following a neurological
thoracic lesions. This is controlled by positioning in bed with insult. This presents as swelling, warmth and tenderness
cushions and with a molded seat or a Thoracolumbosacral around a joint with limitation of range of motion. Aggressive
corset in sitting. Deformities in the lower limbs can be therapy should be avoided till these acute signs of HO are
prevented by passive range of motion exercises, splints to
maintain joints in neutral position (e.g. AFO) and active
exercises to strengthen the weak muscles. The management
of pressure sores, neuropathic bowel and bladder; self care
and mobility issues are discussed in the section below.
wheelchair on all terrains, including use of ramps and joints. Early diagnosis of contractures is important to initiate
clearing of small thresholds. Children, whose level of injury stretching exercises and the desired position is maintained
is at C6 level or above, can be independent with a motorised with the help of resting splints. Encouraging weight
wheelchair, although they will need assistance with their bearing by standing and walking also helps in delaying the
transfers from and onto the wheelchair. development of contractures in the lower limbs.
Children with the level of injury between T4 and T10 will Correction of deformities should be pursued only if it
still require a manual wheelchair for community ambulation, results in a functional limitation. For example, an elbow
but can use KAFO (knee ankle foot orthosis) for therapeutic contracture of more than 30 degrees can affect ambulation
walking within the house with the aid of a walker. A KAFO with elbow crutches and pronator tightness will limit
is made of light weight polypropelene to support the ankle supination which is required to bring food to the mouth and
in neutral position and metal uprights with a drop lock for hence these need correction. In the presence of quadriceps
the knee joint (Fig. 35.4C). Functional ambulation with weakness, the equinus deformity assists with ambulation by
KAFO and elbow crutches is the goal of rehabilitation for creating an extension moment at foot contact. Hence, the
children with level of injury below T10. Stability in the equinus deformity commonly seen in muscular dystrophies
absence of any hip muscles is provided by hyper extending should not be corrected, except if the goal of rehabilitation
the hip which makes the anterior illiofemoral ligament of is to provide gait training with knee ankle foot orthosis
hip taut. Ambulation with KAFO is started within parallel (KAFO) which helps in supporting the ankle and knee in
bars where hip hiking is used to forward the leg. Child then neutral. Assistive devices like a walker or elbow crutches
gradually progresses to gait training with a walker and then enable the children to walk longer than they would without
with elbow crutches. If child has adequate knee extension them.
then ambulation can achieved with an AFO.
Seating and Respiration
Rehabilitation in Neuromuscular Diseases Supported seating in progressive conditions is essential to
Nonprogressive neuromuscular disorders, such as Erbs palsy prevent or delay scoliosis. When functional ambulation is no
and poliomyelitis are characterised by lower motor neuron longer possible, training in a wheelchair equips the child with
injury. Rehabilitation process involves range of motion skills needed to become as independent as possible. Spinal
exercises, positioning to prevent contractures and activities/ orthoses are usually ineffective in preventing progression
therapy to improve strengthen the weak muscles with the of scoliosis and can restrict breathing. However, braces can
goal of improving functional performance and participation be used temporarily to improve trunk control and sitting.
in home and school. Surgical correction of scoliosis by posterior arthrodesis is
Duchenne muscular dystrophy is an example of done after skeletal maturity when the growth of the vertebral
a progressive neuromuscular disease where inherent column has been completed.
sarcolemmal instability predisposes it to injury with Progressive muscle weakness can lead to restrictive
mechanical loading. Here, a submaximal strengthening lung disease and ultimately to hypoventilation, hypercarbia
programme is recommended and these are incorporated and respiratory failure. Inability to clear secretions due to
into activities which children enjoy doing. Improvement an ineffective cough results from weak expiratory muscles
in strength should translate in improvement in function and this can lead to respiratory infections. Deep breathing
and mobility or else compensatory strategies and adaptive exercises with or without an incentive spirometry and
devices are used (Figs 35.9A and B). assisted cough techniques are used to ameliorate the effects
Aerobic exercises like walking, swimming, cycling, of respiratory muscles weakness. Non invasive ventilation is
help to improve the cardiopulmonary system. These also an option in the later stages of respiratory difficulty due to
have an effect on the muscles by increasing capillary low vital capacity and hypercarbia.
density, mitochondrial size and density, oxidative enzymes
and efficiency in utilisation of fat as an energy source for Rehabilitation in Musculoskeletal Conditions
muscular activity. Joint damage and deformity occurs in conditions like juvenile
idiopathic arthritis (JIA) and severe hemophilia (secondary to
Management of Limb Contractures and Deformity bleeds in the joints and muscles). In the acute phase, the goal
Contracture is the limitation in the passive range of motion of rehabilitation is to provide pain relief and rest the joint in
of a joint and can be arthrogenic or myogenic in nature. a functional position by providing a splint, if needed. Ice is
These can result from the fatty infiltration and fibrosis seen in used in the acute phase for pain relief. Factor replacement
dystrophic myopathies along with muscle imbalance across is crucial for a child with acute hemarthrosis secondary to
778 Hutchison's Paediatrics
hemophilia. A joint distension results in a flexed joint which incorporated into play and recreational activities. Adaptive
is not functional and hence plaster of paris is used to make devices are advised for joint protection, e.g. built up pens/
a splint to keep the knee, wrist and ankle in as much neutral pencils, long handle brushes for bathing, large buttons,
position as possible. Stretching and mobilisation exercises velcro straps for dressing, footwear made of microcellular
are required for deformity correction particularly when rubber to support feet and reduce ground reaction forces
functioning is affected (Fig. 35.13). proximally.
Heat is the modality chosen for pain management during
the subacute phase in JIA as it is thought to improve the Rehabilitation in Paediatric Limb Deficiency
joint range of motion, by improving the tissue elasticity and The goal of prosthetic fitting and training in congenital
reducing the muscle spasm from pain. Daily activity and or acquired limb deficiency is to achieve age appropriate
ambulation are encouraged as early as possible. Progressive milestones. Prosthetic fitting as early as 6 months of age helps
strengthening exercises are also initiated to reduce muscle in achieving sitting balance and training towards bimanual
wasting and osteoporosis (Fig. 35.12). This can be tasks and crawling. Early prosthetic fitting and training also
helps with its acceptance by reducing stump dependence (Figs
35.14A and B). Parents should be involved in prosthesis
decision making in order to ensure better acceptability, so
that they encourage the child to use the prosthesis.
Fig. 35.12: A girl with juvenile idiopathic arthritis does resistive quad-
riceps strengthening exercises
A
SUMMARY
The concept of disability has undergone a paradigm shift in
recent times. From being viewed as disabled persons, it is
now recognised that the disability is in the environmental
barriers and often in the way society responds to these people
with special needs that limit their participation. A simple
modification like a ramp with side rails instead of steps at
school or moving the class to one on the ground floor, can
improve accessibility for a physically challenged child like
Suresh (Fig. 35.1).
Children with rehabilitation needs due to developmental
C or acquired pathologies require detailed evaluation and
Figs 35.14A to C: A 13-year-old bilateral upper limb trans-radial am- assessment by a comprehensive rehabilitation team which
putee (post electrical burns) undergoing training to use a mechanical
prosthesis for eating (A), building blocks (B), and right electric pros- should include a physiatrist, paediatrician, physiotherapist,
thesis for writing (C) psychologist, occupational therapist, rehabilitation nurse
and social worker, among others. Realistic goals should
be decided upon after discussions with the family and
Once the child is cognitively ready for training, the
other caregivers. An individualised treatment plan can
passive prosthesis can be changed to provide the child simple
then be formulated based on the prioritized goals, taking
control with hand opening and closing using cables or by
into consideration the childs emotional, social, as well as
switches within the socket of the prosthesis (electric hand)
physical needs. All interventions that are considered should
(Fig. 35.14C). Acceptance of upper limb prosthesis is lesser
be with the aim of improving function as well as promoting
than that for lower limbs. This is due to the absence of
integration into the family and community, maximising their
sensory feedback and the inability to control the intensity of
potential for developing into productive members of society.
the grasp and manipulate objects. Very often children learn
to use their stumps or their feet to do all their activities.
ACKNOWLEDGEMENTS
In lower limb deficiency, prosthetic fitting is started at
10 months of age when the child is ready to stand and then We acknowledge the comments and suggestions of Dr
is subsequently made to walk. Knee joints are added at 35 Ashish S Macaden, DNB, PhD, and Dr Debbie Skeil,
years of age with a manual locking mechanism. In acquired MRCP, FRCP, DM, in the preparation of this manuscript.
amputations, preprosthetic training aims at improving Our heartfelt gratitude also goes out to our patients and their
range of motion, strength across the joint and reducing families who teach us through their struggles, and remind us
the postoperative swelling by rigid (plaster of paris) or of our common humanity.
James Wallace
C H A P T E R
Prescribing for Children 36
THE CHALLENGE those seen in adults. The evidence suggests that medication
safety needs to be improved, particularly in babies and young
Prescribing for children presents a number of challenges. children. Medication errors occur in children in hospital at
Children are not little adults and should not be treated as similar rates to adults but have three times the potential to
such. Their bodies handle medicines differently to adults cause harm.
and the response of young children differs from older It is worth remembering that medicines are an important
ones. Detailed care and attention is needed when making part of treatment strategies but a holistic approach to care of
prescribing decisions for children, taking into account their the child is required. Consideration also needs to be given
developmental stage. Yet they experience the same range of to other approaches where possible including, for example,
illnesses that can affect adults. Children can require both psychological management and nutrition.
specialised care for serious conditions such as cancer or Many changes occur in the way infants and children
transplantation and general care for more common complaints handle drugs in the period from birth to adulthood. They are
like asthma and diarrhoea. The paediatric prescriber requires important to take into consideration terms of understanding
a sound knowledge of the concepts of care within the whole how doses are derived.
age range of paediatrics. Neonatology can probably be
regarded as a specialty in its own right with different clinical PHARMACOKINETICS
situations and huge differences in pharmacokinetics and
dynamics. Absorption
The Table 36.1 below defines the descriptors commonly
Absorption of both orally and parenterally administered
used for the different age groups, and the key stages, which
drugs is similar in children and adults. The exceptions to
define the development of a child.
this are:
Lack of evidence on the use of medicines in children
Increased oral absorption of penicillin antibiotics
leads to uncertainty in dosing and increases the risk of
Reduced oral absorptions of phenobarbitone, phenytoin
medication errors. Even the most appropriate dose may
and rifampicin in infants.
lead to differences in effectiveness and adverse effects to
This is mainly due to decreased gastric acid secretion
Table 36.1: Descriptors used for different age groups and an increased gastric emptying time at birth. Normal
Descriptor The age of Key stages emptying times and pH are reached at about the age of three
the child years.
Pre-term 2337 weeks a. Rapid growth, fully formed gestation Absorption from intramuscular (IM) administration is
neonate b. M ost systems not fully developed. erratic, just as it is in adults, and the same types of drugs
Neonate Birth to one- Normal initial period of human should be avoided with this route, i.e. phenytoin, digoxin
month development and growth
and diazepam. The relatively small amount of muscle in
Infant One month to High growth rates and rapid changes
neonates and infants means that IM injections are not only
one-year
Child One to 12 Slower growth and development
painful but relatively ineffective at achieving adequate drug
years levels. This route is, therefore, avoided whenever possible.
Adolescent 1218 years Final period growth and puberty,
Percutaneous absorption is enhanced in infants and
stretching into adulthood children. Their skin is much thinner and better hydrated than
Prescribing for Children 781
adults and this can lead to problems with topical steroids. kidney function are reduced in premature babies resulting
This is particularly the case if the skin is broken or burnt. in increased plasma half-lives of both hepatically and renally
Potent topical steroids should be avoided as systemic adverse cleared drugs.
effects have been reported in infants. The skin is so thin in This leads to longer plasma half-lives and increased
neonates (especially pre-term) that some substances designed plasma concentrations. The more premature the infant, the
for skin application in adults and older children may actually more depressed is the hepatic metabolism.
cause harm. This is true of some skin disinfectants such as
Chlorhexidine 2% in ethanol which burns a premature babys Hepatic Metabolism
skin. Enzyme systems in the liver are immature in newborn and
Rectal administration is particularly useful in infants pre-terms infants, particularly oxidation and glucuronidation.
and children who are vomiting or are reluctant to take oral In the past this led to the grey baby syndrome when large
medication. However, as in adults, there is considerable doses of chloramphenicol were administered to infants with
variation in individuals blood supply to the rectum, causing meningitis. It also accounts for the much longer half life of
variation in the rate and extent of absorption of rectally diazepam in neonates.
administered drugs. Diazepam can be given rectally and this In older children, hepatic function is greater than in
is often the most convenient route in a child who is fitting. adults. Most anti-epileptics and theophylline require a larger
Paracetamol is also given rectally to treat pyrexia usually in dose per kilogram than in adults to achieve therapeutic
children who are too ill to take their medication orally. plasma concentrations. This is thought to be due to the fact
that, relative to body size, the liver is larger than in adults.
Distribution
The two main factors influencing drug distribution are body Renal Excretion
composition and plasma protein binding. Renal excretion is the most important parameter, which
affects dosing of children of any age. Renal function is
Body Composition immature in premature infants, leading to extended half-
Extracellular fluid volume is much higher in newborn lives of drugs such as aminoglycosides or penicillins. Dosing
infants (50%). It decreases gradually with increasing age, changes are made in the same way as adults with poor renal
25% at one year of age and 2025% by adulthood. More function, i.e. increasing the dosing interval or decreasing the
importantly, total body water is much higher in premature dose.
infants (85%) than term infants (75%) and adults (5060%). Conversely, patients with cystic fibrosis are able to clear
In addition, the body fat content changes dramatically with aminoglycoside at a much higher rate than normal children
age, from 3% in a premature newborn to 12% in full term of the same age. The reasons for this have never been fully
infants, 30% at one year and 18% in adulthood. explained but theories include enhanced tubular secretion,
This tends to mean greater doses of water-soluble drugs, increased extra-renal clearance and increased volume of
e.g. penicillin and aminoglycosides on a weight-for-weight distribution.
basis are required. For example, the normal dose of IV These patients nearly always require much higher
flucloxacillin for a premature neonate is 25 mg/kg. If you doses of aminoglycosides to achieve therapeutic plasma
were to give this to a 70 kg adult the dose would be 1.75 gm. concentrations.
Table 36.2: Mean values for weight, height and body is appropriate to state doses on mg/kg basis. This form
surface area by age of extrapolation from adults is usually inappropriate for
accurate therapeutic dosing, although it is unlikely to lead to
Age Weight Height Body surface
kg cm m2 toxic dosing.
Full-term neonate 3.5 50 0.23
Example
1 month 4.2 55 0.26
Iain is a three-month-old baby. He weights 5.23 kg. His body
2 months 4.5 57 0.27
surface area 0.31 m. Calculate the dose of aciclovir required
3 months 5.6 59 0.32
for him using the mg/kg method (the adult dose is 800 mg).
4 months 6.5 62 0.34 800
=11.4 mg / kg
6 months 7.7 67 0.40 70
1 year 10 76 0.47
Dose is 11.4 5.23 = 59.6 mg
3 years 15 94 0.62 Use 60mg = 1.5 ml of 200 mg/5 ml aciclovir suspension.
5 years 18 108 0.73 Using body surface area to calculate drug dose is the
7 years 23 120 0.88 most accurate method, because it reflects cardiac output, fluid
10 years 30 132 1.05 requirements and renal function better than weight-based
12 years 39 148 1.25
dosing. In practice, however, it is impractical and necessary
for only a limited number of drugs, e.g. cytotoxic agents.
14 years 50 163 1.50
Weight-based doses are mainly used. Doses based on age
Adult male 68 173 1.80 bands may be used for some drugs with a wide therapeutic
Adult female 56 163 1.60 index.
[Source: Reproduced by the kind permission of: Paediatric Formulary
Committee. BNF for Children (edition, 2006) London: BMJ Publishing PRESCRIBING IN PAEDIATRICS
Group, RPS Publishing, and RCPCH Publishing Ltd; 2006].
General
Body water (total and extracellular) is known to equate Good prescribing is essential in all patients. However there
better with surface area than body weight. It therefore seems are key points of good practice in prescribing for children.
appropriate to prescribe drugs by surface area if they are They can be summarised as follows:
distributed in the extracellular water. Always prescribe so that anybody can read it
Never prescribe or administer without knowing the
Example allergy status of the child
Iain is a three-month-old baby. He weights 5.23 kg. His Always be as clear as you can with units: mg, micrograms,
body surface area is 0.31 m. Calculate the dose of aciclovir nanograms, units are acceptable: mcg, ng, ug, iu are not
required for him using the percentage method (the adult dose acceptable
is 800 mg). Decimal points must always have a number in front of
0.31 them even it is a 0
100 =17.6% Try to be logical with doses. There are a few drugs that
1.76
need precise prescribing on mg/kg basis. Most drugs
Dose is 0.176 800 = 140.8 mg however can be rounded up or down with no clinical
Use 140 mg = 3.5 ml of 200 mg/5 ml aciclovir suspension. consequences (this reduces the use of decimal points and
aids administration)
Mg/kg Method Only medication with no strength (e.g. lactulose) or with
multiple components (e.g. Abidec) can be prescribed in
Adult dose (mg) ml. All others must be in mg, micrograms or mmol for
= mg / kg dose all electrolytes.
70 kg
(70 kg being the average adult weight). Practical Issues
This method will give lower doses than the percentage The lack of licensed drugs for children causes practical
method using surface areas. It is far less accurate in clinical problems every day for the paediatric pharmacist, doctor,
terms but much easier to use since weights are usually more nurse, family and patient. These include a lack of dose
accessible than surface areas. Within limited age bands it information. Prescribing too small doses may result in
784 Hutchison's Paediatrics
An EC Directive issued in 1997 stated that benzyl the appropriate number of doses per day. Others give the
alcohol is contraindicated in infants/young children. This has individual dose per kg bodyweight and the number of time
implications for formulation of medicines used in children. daily this should be administered. Errors are common due to
Summary of Product Characteristics (SPCs) for amiodarone confusion between these systems. It is therefore essential that
and lorazepam injections now both state that they contain prescribers are familiar with the way the reference works to
benzyl alcohol and are contraindicated in infants or young minimise the risk of prescribing errors.
children up to three years old. This poses a dilemma given
the lack of more appropriate alternatives for these patients. Advanced Formulation
The sugar content of medicines must also be considered, More advanced formulations are becoming increasingly
particularly with long-term treatment. However, it is unlikely available for adult patients, such as transcutaneous delivery
to be a major issue in short-term medication. system, fast dissolving drug formulations and multiple unit
dose systems, which all offer potential major improvements.
OTHER ISSUES Generally, however, this new technology has not benefited
Medication Errors children to a major degree so far. It is hoped that recent
US and EU legislation will encourage research leading to
The lack of suitable, licensed formulations for children the development of medicines and formulations designed
increases the risk of medication errors by complicating specifically for children.
administration. Frequently, a small proportion of the content
of an injection vial is required to administer a calculated ACKNOWLEDGEMENTS
dose. Miscalculation can lead to a ten-fold or even a 100-fold
overdose for a small baby from one vial. Dilution of adult Thanks are due to NES (Pharmacy), the Scottish Neonatal
strength injections is also often needed which can involve Paediatric Pharmacists Group, and particularly to Steve
complex calculations. Fatal errors have indeed occurred. Tomlin and Sharon Conroy for permission to use and adapt
Other complications are that displacement values must be their material for this chapter.
taken into account and syringes have to be used carefully to
avoid administration of the contents of the dead space and BIBLIOGRAPHY
overdosing with a concentrated drug. 1. An Introduction to Paediatric Pharmaceutical Care. NHS
Different reference sources quote doses in different Education Scotland (Pharmacy) 2009.
ways. Some provide dose information as the total daily 2. The British National Formulary for Children. BMJ Publishing
dose per kg bodyweight, which should then be divided into Group Ltd/RPS Publishing/RCPCH Publications Ltd 2006.
Jean Herbison
C H A P T E R
37
Child Abuse and Neglect
How do We Protect
these Children?
Investigation and management of a case of possible harm Neglect is usually a chronic or long-term situation which
to a child must be approached in the same systematic and can have major consequences for the childs self-esteem,
rigorous manner as would be appropriate to the investigation development and life chances in general but episodic "acute"
and management of any other potentially fatal disease. neglect can occur, especially at times of crises in the family
The Victoria Climbi Inquiry 2003: or in escalation of parental issues such as mental wellbeing,
Report of an Inquiry by Lord Laming, Para 1153 domestic violence and addiction problems.
Neglect tends to be associated more with poverty and
with lower social classes but it certainly occurs also in
INTRODUCTION
affluent families, particularly where children are left
Children, wherever they live, have the right to be protected isolated, unsupported or unsupervised due to parents work
from all forms of child abuse, neglect and exploitation. This commitments or even resentments at having to look after the
should not be dependent on gender, race or culture. All children and care for them rather than their priority of life
human beings, including lay persons, professionals, business ambition and career.
employees, politicians and governments, have an obligation
to ensure that protection.1 All have a responsibility for the Recognition of Child Neglect
welfare of children and should raise concerns speedily with Health professionals can become concerned or suspicious of
appropriate persons or authorities should they believe or child neglect (Figs 37.1A to C) over a range of contacts with
know that a child is being inappropriately cared for by their children and families e.g. concern may be raised from:
parents, carers or others. A poor uptake of assessment of the childs development
at appropriate appointments or parents attitude to the
VARIOUS FORMS OF ABUSE childs immunisations.
Leaving diagnosed medical conditions untreated and not
Child Neglect responding to sustained medical advice or giving what
Aspects of neglect include: appears to be essential treatment regularly for a range of
Neglect of a childs physical needs for e.g. nutrition/ health problems.
hygiene/clothing. Frequent attendance at emergency departments (ED)
Not providing the child with opportunities to socialise with unusual injuries or other presentations which appear
with peers. This can be associated with attachment to be associated with accidents. These may have been
disorders. preventable in the household setting or have occurred
Scapegoating of one child over and above another, e.g. through a lack of supervision.
child constantly being unkempt and smelly and being A child being presented either at nursery or school or
told they are "useless" whilst other siblings are being in other social environments dressed unacceptably, e.g.
complimented and are dressed in clothes acceptable to in a nightie walking outside late at night in cold weather
social norms. unaccompanied.
Child Abuse and NeglectHow do We Protect these Children? 787
A B C
Figs 37.1A to C: (A) Small unkempt child in a flexed position with red swollen hands (B) Note the same posture is maintained when undressed
(C) How the child is emaciatednote the wasted buttocks and severe chronic nappy rash extending down the leg. Swollen lower legs are also
seen. (Source: Hobbs C. Physical Signs of Child Abuse. London: WB Saunders, Co. Ltd; 1996.)
Assessment of the Extent of Child Neglect intended) or by commission. Nevertheless, it is the impact
on the child in any case which must be seriously taken into
Many standardised tools can be used but the essential element
account. Supportive intervention early and/or intervention to
is to gather all information from professionals surrounding
remove the child (at the most extreme end of circumstances)
and working with the child and family including the family can be actioned but the child often lives for years in the context
practitioners, health visitor, school nurse, psychologist, of neglect which has a major detrimental effect on emotional,
school teacher, social worker and sometimes police if they cognitive and physical development. There is often a future
have already been asked to attend due to the family, e.g. the generational impact and if the child has not been parented
child being left alone or found wandering without supervision appropriately or has been abused, they often learn not to
at a young age. Other information must also be gathered parent and the cycle is perpetuated throughout many future
particularly by social workers and police from neighbours, generations. That in itself leads to addictions, self-harm, low
community volunteer workers or extended family members self-esteem and criminal behaviours. The following diagram
(Fig. 37.2). shows the importance of the early detection and appropriate
The integrated assessment framework "triangle" assists intervention in neglect cases (Figs 37.3 and 37.4).
all practitioners, including medical practitioners to glean The sharing of information between professionals
robust detailed information about the individual childs involved with the child or families is critical. This should
needs, including the childs development, details with regard not be obstructed by simply bureaucratic notions of
to parenting and whether there is adequate parenting capacity "confidentiality". Confidentiality must be in the best interest
and/or appropriate standards of care as well as the social of the children as our patients. That is between professionals
environmental circumstances within which the child lives. involved in childrens services but also professionals
Key factors, such as poverty, unemployment and over- involved in adult services, particularly those of mental health
crowding, can contribute markedly to the chronic neglect learning disability, addictions and where adult practitioners
of a child. The neglect is not necessarily a deliberate act, such as the general practitioner may become aware, e.g. that
but may be the consequence of parental risk factors such as there is violence within the family home. There is substantial
mental health problems or lack of capacity to parent. Other evidence that children living within violent homes are at very
examples or risk factors are parental addiction to drugs or high risk of physical abuse and sustained impact on their
alcohol, domestic violence (gender-based violence) within emotional development.
the home or learning disability in parent or carer. In these It is absolutely essential that professionals have a low
situations, the neglect of the child can be by omission (not threshold of suspicion for neglect of a childs welfare (Fig. 37.5)
788 Hutchison's Paediatrics
Fig. 37.2: Abnormal brain development following sensory neglect in early childhood. The image on the right is from a three-year-old child suffering
from severe sensory-deprivation neglect. This childs brain is significantly smaller than average and has enlarged ventricles and cortical atrophy.
(Source: Bruce D Perry. Childhood experience and the expression of genetic potential: What childhood neglect tells us about nature and nurture.
Brain and Mind. 2002;3:79-100.)
Fig. 37.4: Factors that contribute to children developing into successful learners, confident individuals, responsible citizens and effective
contributors
[Source: Getting it right for every child (GIRFEC), practitioner tools and resources, 2008]
such that their analysis and assessment can occur and appropriate Parental Risk Factors
interventions and support can be implemented early in the childs
life to enable the family to encourage nurturance of the child Parental Substance Misuse
and ensure optimal physical and emotional development in the
Parental substance misuse is associated with a range of
future. Where that is not sustainable, then local child protection
statutory measures (dependent on different procedures in potential risk to children including:
different countries) must be enacted to ensure the childs safety Harmful physical effects on unborn and new-born babies.
and further development. This requires a dynamic process of Impaired patterns of parental care with a higher risk of
assessment and the ability to intervene in a range of ways which emotional and physical neglect or abuse.
fit every individual and childs needs in the context of their Chaotic lifestyles which disrupt childrens routines and
family and community setting. relationships, leading to early behavioural and emotional
Often families will be resistant to these measures and problems.
there must be legal fallback position to ensure that the child Family income may be diverted to buy alcohol or drugs,
is at the heart of interventions. Continuing neglect has such leading to poverty, debt and material deprivation.
a profound impact on their longer-term development and on Unstable accommodation or homelessness as a
future generations. The Figure 37.6 shows impact of neglect consequence of anti-social behaviour orders, rent arrears
on childs growth. or conviction for alcohol or drugs related offences.
790 Hutchison's Paediatrics
Fig. 37.5: A range of factors can contribute to the picture of child neglectoften there is accumulative concern
with regard to one factor or several
morbidity in 32% of the cases which included depression, mothers in homes where domestic abuse was occurring said
post-natal depression and personality disorder.2,3 that their children had witnessed violent incidents and 33%
The crossing bridges family model is a useful framework of the children had seen their mothers beaten. Ninety percent
that can help staff to consider the parent, the child in the of children were present in the same or the next room at the
family as a whole when assessing the needs of and planning time of the assault.5 Quite a number of women are abused in
care packages for families with a parent suffering from a pregnancy and in a study by McWilliams et al. in 1993, in
mental health problem.4 relation to 127 women in refuges in Northern Ireland, 60%
Parental mental health problems can adversely affect the had been abused in pregnancy, 13% had lost their babies as
development and in some cases the safety of children. a result and 22% had threatened miscarriages.6 There are
Growing up with a parent who experiences mental health many effects on the child including lacking in self-confidence,
problems can have a negative impact on the young withdrawn, constantly anxious, constantly fearful, difficulties
persons adjustment into adulthood including their own in forming relationships, sleep disturbances, post-traumatic
transition to parenthood. stress disorder, non-attendance or poor attendance at school
Children, particularly those with emotional, behavioural (NCH, 1994).7
or chronic physical difficulties, can precipitate or Health professionals have a key role in recognising
exacerbate the mental ill health in their own parents, domestic abuse and in referring appropriately to other
therefore, increasing risks. agencies so optimal and sensitive assistance can be offered to
Public concern has arisen because of a number of high the child and non-abusive parent.
profile cases where children have been directly harmed,
Parental Learning Disability
sometimes fatally because of the mental health problems
of their parents or carers. Common themes emerging from People with a learning disability need help with everyday
these cases include: living. This means that people with a learning disability need
Lack of professional awareness of the impact of parental help in at least one of the following skill areas:
mental health problems on children. Conceptual skillsreceptive and expressive language,
Individual agencies and their staff being unaware of, the reading and writing, money concepts.
presence of children within households. Social skillsinterpersonal, responsibility, self-esteem.
Lack of any clear assessment of the needs, situation and Practical skillspersonal activities of daily living (eating,
circumstances of children. In addition, services being too dressing, mobility and toileting). Instrumental activities
focused on the needs of adults and ignoring or lacking of daily living (preparing meals, managing money,
sensitivity to the needs of children and families. housekeeping activities).
The prevalence of communication difficulties is estimated
Ineffective communication between professional staff
at between 50% and 80% in people with a learning disability.
and between agencies including lack of interpretation
Forty percent to sixty percent of children born to parents
of the health information provided with clarity to other
with a learning disability are removed from their care.
agencies.
Learning disabled parents are 3060 times more likely to
Inconsistent recording linked to the issue of poor
be subject to a care order application than their numbers in
assessment of children.
the community would predict.
Poor evidence as to why decisions to act or more
Parents with intelligence quotient (IQ) less than 60
importantly not to act have been taken. experience more difficulty in cognitive functioning and social
Professionals not acting to help children soon enough skills.
resulting in crises arising and actual harm or tragedies What do we know about parents with learning disabilities?
happening. Purposeful abuse by parents is infrequent.
Neglectomission not commission. Family pattern is
Domestic Violence
repeated "I dont know what Im doing wrong."
Domestic violence is a term describing a continuum of violent Cognitive functioning and ability to learn
behaviour within an intimate relationship or close family Uncertainty in literature regarding the effectiveness
situation. It can include verbal, financial, sexual, emotional of training
or physical abuse. Domestic violence and child abuse, Input needs to be longer-term
whether physical or emotional, often co-exists. In a National Maintaining skills, forgetting, failure to generalise,
Childrens Home (NCH) Charity Study from 1994, 75% of adjusting parenting styles as child grows
792 Hutchison's Paediatrics
The greater the discrepancy between parents knowledge, Long-term support where necessary.
skills and experience and the needs of the children, the Access to independent advocacy.
higher the degree of risk.8
Vulnerability to psychopathology.9,10 EMOTIONAL ABUSE AND NEGLECT
Forty five percent depression and anxiety.
This must be considered when there is concern that the
Obsessive compulsive disorder (OCD) in females more
severe. parent or carerchild interactions may be harmful. Examples
Study by McGaw looking at high-risk versus low-risk include:
parents found experience of trauma by mothers to be Negativity or hostility towards a child or young person.
significant for child protection registration for emotional Rejection or scapegoating of a child or young person.
abuse in children (79%). Developmentally inappropriate expectations of or
Health interactions with a child, including inappropriate threats
Mothers with learning disabilities are at particular or methods of disciplining.
risk for poor health status. Exposure to frightening or traumatic experiences,
Common health problems in learning disability (LD) including domestic abuse.
department of health (DOH) Using the child for fulfilment of the adults needs (for
Mobility problems example, children being used in marital disputes).
Respiratory problems Failure to promote the childs appropriate socialisation
Psychiatric disorders (for example, involving children in unlawful activities,
Behavioural problems isolation, not providing stimulation or education).
Obesity Suspect emotional abuse when persistent harmful parent
Eyesight problems or carer child interactions are observed or reported. Consider
Health problems child maltreatment if parents or carers are seen or reported
Communication problems. to punish a child for wetting despite professional advice that
It has been stated that often the presence of a major the symptom is involuntary. Consider emotional neglect if
medical condition in mother is one of the prime reasons for there is emotional unavailability and unresponsiveness from
removal of a child from a family. the parent or carer towards a child and in particular towards
The difficulties experienced by parents who have a LD an infant. Suspect emotional neglect if there is persistent
often overlap with those experienced by families of poor emotional unavailability and unresponsiveness from the
economic status. parent or carer towards a child and in particular towards an
Mothers with LDs tend to be isolated from their local infant.
communities. Consider child maltreatment if a parent or carer refuses
Key risk factors for abuse where parents are learning to allow a child or young person to speak to a healthcare
disabled are: professional on their own when it is necessary for the
Presence of male IQ more than 70. Two LD parents were assessment of the child or young person.
of less note in terms of risk to child than where male in Additionally, consider child maltreatment if a child or
household had IQ more than 70 young person displays or is reported to display a marked
Higher risk are: change in behaviour or emotional state, as per the examples
Previous children on child protection register below:
Mother had history of trauma (physical, emotional,
Behavioural change which is a departure from what
neglect)
would be expected for their age and developmental stage
Physical/sensory impairment p more than 0.5
and which is not explained by a known stressful situation,
Special needs in children.
e.g. bereavement or parental separation or a medical
Improving outcomes for disabled parents and their
cause.
children:
Examples of where child maltreatment should be
Accessible information and communication.
suspected include:
Clear co-ordinated referral and assessment procedures,
processes, eligibility criteria and care pathways.
Emotional States
Support designated to meet the needs of parents and
children based on assessments of their needs and strengths. Fearful, withdrawn, low-self esteem
Child Abuse and NeglectHow do We Protect these Children? 793
A B
Figs 37.8A and B: (A) Well demarcated bruise demonstrating blunt force trauma by object. On this occasion,
the buckle of a belt (B). Forced hand slap injury (or could have been face forcibly impacting on ridged object)
Child Abuse and NeglectHow do We Protect these Children? 795
C
Fig 37.8C: Marks produced by forced trauma using a range of objects
D
Fig. 37.8D: Well demarcated outline
left by object following forced trauma
A B
Figs 37.9A and B: (A) Fingertip marks due to forceful gripping (B) Multiple unexplained
bruises including finger tip bruise to soft tissue area of left cheek
Fig. 37.10: Recent horizontal linear bruises extending across the Fig. 37.11: Forced impact trauma often includes the up-
cheek consistent with an adult hand slap. (Source: Hobbs J, Wynne per aspect of the earthis is rare in accidental trauma but
JM. Physical Signs of Child Abuse, 2001) is highly correlated with non-accidental trauma
796 Hutchison's Paediatrics
Fig. 37.12: Adult bite marks on upper left chest of a baby. Teeth marks
are also seen. Confirmed by forensic dentistry. The outline of dental
arch is evident
Fractures
It takes considerable force to produce a fracture in a
child. Any explanation must be consistent with the childs
developmental age and with the type of fracture. The younger
the child with the fracture the greater the likelihood of abuse.
Eighty percent of abused children with fractures are less than B
18 months old whereas 85% of accidental fractures occur in Figs 37.13A and B: Multiple rib fractures of different agesdifferent
stages of callous formation, follow several episodes of abuse
children over 5 years.
The following types of fracture are more suspicious of
abuse in infants: A transverse fracture of the femur is the commonest
Spiral fractures of the humerus are uncommon and presentation and can be found in accidental and non-
strongly linked to abuse. Any humerus fracture other accidental injuries.
than a supracondylar fracture is suspicious of abuse in Metaphyseal fracturesthese are relatively rare
children. All humeral fractures in a non-mobile child are fractures. In the neonatal period they can be related to
suspicious if there is no clear history of an accident. birth injury, but outside the neonatal period under the age
Multiple fractures are far commoner in abused children: of 2 years are suggestive of abuse particularly if femoral.
Ribsin the absence of underlying bone disease or major Epiphyseal fractures will only be found if looked for
trauma (such as a road traffic accident), rib fractures carefully and always require paediatric radiological
are highly specific for abuse and may be associated in opinion (Fig. 37.14).
some cases with shaking (Figs 37.13A and B). It has Skull fracturesa history of a fall less than 3 feetthis
been suggested that rib fractures can be caused by the rarely produces a fracture.
resuscitation process (where there has been an arrest) A linear parietal fracture is the commonest fracture and
but posterior rib fractures have never been described can be accidental or non-accidental. It is always crucial
following resuscitation. Anterior or costochondral rib to obtain a clearly history which has been witnessed (Fig.
fractures have been described extremely rarely in 0.5% 37.15). Particularly concerning skull fractures are:
in resuscitation. Occipital fractures
Femoral fractures in children who are not independently Depressed fractures
mobile are extremely suspicious of abuse regardless of Growing fractures
the type. Once a child is able to walk they can sustain a Fractures complex or multiple in severely injured or
spiral fracture from a fall while running, so once again it fatally injured children. It is twice as likely to be due
is exceptionally important that a clear history is obtained. to abuse.
Child Abuse and NeglectHow do We Protect these Children? 797
Thermal Injuries
Patterns that suggest abusive burn and scald injuries include:
Glove and stocking circumferential scalds of limbs/
buttocks from (forced emersion) (Fig. 37.16)
Deep cratered circular burns, which heal to leave scars
(cigarette burns) (Fig. 37.17A to C)
Clearly outlined brand marked contact burns (hot
objectse.g. clothes, iron, fire grid, cooker/hot plate).
Poured scald
Friction or carpet burns (e.g. from dragging child across
the floor).
Common sites for abusive burns include:
Feet and hands, especially the backs of hands
Buttock
Face
Multiple Sites.
Fig. 37.14: Metaphyseal fractures in under 2s can be identified dur-
ing skeletal survey and are highly correlated with twisting/pulling type Other Potential Non-Accidental Injuries
injuries in the context of abusive trauma
A variety of other injuries are encountered in abusive
circumstances. These include:
Scratches, abrasions, incised wounds.
Mouth injuries, for example fractured teeth, lacerations
and bruises to lips and tongue, torn labial frenulum
in infant or toddler, palatal burns from hot food or
Fig. 37.15: Boggy swelling over the right parietal area. X-ray confirms
parietal fracture. In this case, an inconsistent history was provided for
the injury describing a 4 months infant rolling from a bed which the
infant was incapable of doing Fig. 37.16: Forced dipping of arm into hot water of a toddler
798 Hutchison's Paediatrics
A B C
Figs 37.17A to C: (A) Punched out "crater-like" burn 0.8 mm1.0 cm diameter illustrating inflicted cigarette burn. (B) Cigarette burn healing
can be confused with impetigo at this stage. (C) Full thickness cigarette burns going on to scar formation
lacerations from cutlery or objects forced into the mouth. Entrapment and accommodation
Needles forced into skull or other tissues in context Delayed, conflicted and unconvincing disclosure
mainly of induced illness.13 Retraction.
Brain injury subsequent to trauma can be due to direct
blows angular forces or due to hypoxic ischaemic injury Sexual Abuse Recognition
sometimes due to shaking of the child or shaking plus impact
Recognition of sexual molestation of a child is entirely
injuries (even onto soft surfaces following, e.g. a throw).
dependent on the individuals inherent willingness to entertain
Retinal haemorrhages can also be associated commonly with
the possibility that the condition may exist. Unfortunately,
inflicted brain injury (IBI) also known as non-accidental
willingness to consider the diagnosis of suspected child abuse
head injury involving angular forces. This can be in one or
molestation frequently seems to vary in inverse proportion to
both eyes but classically involves all layers of the retina. It
the individuals level of training.16
is important that a paediatric ophthalmologist uses indirect
opthalmoscopy to establish the findings (pictures should be
Behavioural Indicators
taken via retcam if possible) and provide a specialist opinion
in such cases. Inflicted head injury can be accompanied by None of these are pathognomonic but raise suspicion
other injuries on other parts of the body. Although only in requiring further detailed enquiry and analysis:
approximately half of cases, a range of fractures can be Regression
found when further investigation is instigated (full skeletal Sleeping disturbances
survey). Eating disorders
School problems
CHILD SEXUAL ABUSE Social/peer problems
Poor self-esteem
Sexual abuse happens when a child or young person under
Sexualised behaviours.
the age of 16 is used for the sexual gratification of an adult.
More than 95% of cases present as historical abuse rather
Medical Indicators
than acutely. Child sexual abuse (CSA) is often associated
with other forms of abuse including physical abuse, emotional Very few single "diagnostic" signs
abuse and physical neglect. Sexually transmitted diseases
The child sexual abuse accommodation syndrome, i.e. Bloodstains on underwear
impact on children of sexual abuse:15 Bruising or swelling of genital area (history important)
Secrecy Grasp marks
Helplessness Soiling enuresis
Child Abuse and NeglectHow do We Protect these Children? 799
Anogenital pain syndrome by proxy, this label applies to the child, not the
Various types of penile/vaginal discharge perpetrator. The label is used to describe a form of child
Hymenal/anal findings (vulvoscopy). abuse.
Further detailed information on the physical signs of There is a spectrum of fabricated illness behaviour and
child sexual abuse can be found in the RCPCH publication FII may co-exist with other types of child abuse. The range
"The Physical Signs of Child Sexual Abuse. An evidence- of symptoms and systems involved is very wide and it is
based review and guidance for best practice, March 2008." usually the parent or care giver who is the perpetrator. FII
includes some cases of suffocation, non-accidental poisoning
Child Sexual Abuse Health and sudden infant death.
Consequences in Adulthood
Features
Gastrointestinal problems such as ulcers, irritable bowel
syndrome and chronic abdominal pain; pelvic pain A child is presented for medical assessment and
Gynaecological problems care, usually persistently, often resulting in multiple
Chronic headache procedures.
Psychological effects Mismatch or incongruity between symptoms described by
Emotional effects parent/carer and those objectively observed by medical
Physical effects attendants.
Social effects. The perpetrator denies knowledge of the aetiology of the
childs illness.
Child Pornography Acute symptoms and signs cease when the child is
separated from the perpetrator.
This refers to images or films (also known as child abuse
Intention or non-accidental poisoning often presents
images) and in some cases "writing" depicting sexually explicit
with bizarre symptomatologya range of substances are
activities involving a child. As such, child pornography is a
involved (e.g. methadone, salt).
record of child sexual abuse.
Think of Fabricated and Induced Illness When:
Child pornography is among the fastest growing criminal
Inconsistent or unexplained symptoms and signs
segment on the internet and producers of child pornography
Poor response to treatment
try to avoid prosecution by distributing their material across
Unexplained or prolonged illness
national borders. Pre-pubescent pornography is viewed and
Different symptoms on resolution of previous ones, or
collected by paedophiles for a variety of purposes ranging
over time
from private sexual uses, through to trading with other
Childs activities inappropriately restricted
paedophiles. Children of all ages, including young infants,
Parents/carers unable to be assured
are abused in the production of pornography. The United
Problems only in the presence of parent/carer
States Department of Justice estimates that pornographers
Incongruity between story and actions of parents/carers
have recorded the abuse of more than 1 million children in
Erroneous or misleading information
the United States alone. There is an increasing trend towards
Family history of unexplained illness or death
younger victims and greater brutality. According to the
Exaggerated catastrophes or fabricated deaths.
world congress against commercial sexual exploitation of
The paediatrician is usually the professional who suspects
children "while impossible to obtain accurate data, a perusal
FII. This hinges on taking very detailed histories from all
of the child pornography readily available in the international
adults who may have information to give, careful checking
market indicates that a significant number of children are
of aspects of history which can be corroborated and, if
being sexually exploited through this medium.17
necessary, a period of admission or specific tests, constantly
Child Sex Tourism weighing up the balance between needing to confirm the abuse
and avoiding necessary harm to the child. The production of
One source of child pornography distributed world-wide is a detailed chronology is essential in the investigation of this
created by "sex tourists." Most of the victims of child sex form of abuse.19
tourism reside in developing countries. Interpol works with
its 188 member countries to combat the problem.18 CHILD TRAFFICKING
The illegal trading of people is a world-wide problem and is
FABRICATED AND INDUCED ILLNESS
thought to be the third largest illegal trade after drugs and
Fabricated and induced illness (FII) is a form of abuse, weapons trafficking. Globalisation has contributed to the
not a medical condition. Previously known as Munchausen growth of trafficking. The US Department of State estimates
800 Hutchison's Paediatrics
that 800,000 people are trafficked across national borders Person in control of/with the child has applied for acted
annually, nearly 50% of these being children. That figure as guarantor for visas on behalf of others.
is considered to be a minimum with some estimates ranging Person interpreting for the child at interviews and
up to 2 million people. There are no clear estimates about meetings was previously known to them (i.e. not
the numbers of children trafficked around the world, but appointed or approved by authorities).
UNICEF described the numbers as "enormous." Whilst in
Western Europe women are the most numerous victims, Concerns
globally children constitute the largest numbers.20-22 On arrival in the country or when attending meetings/
Children are often exploited in relation to: interviews is accompanied by an adult who may not be
Child labour e.g. cannabis farms legal guardian and who insists on remaining with the
Debt bondage
child at all times.
Domestic servitude
Has a prepared story very similar to those that other
Begging
children have given perhaps hinting they have been
Benefit fraud
coached.
Drug trafficking/decoys
Leaving home/care setting in clothing unusual for the
Illegal adoptions
individual child (inappropriate for age, borrowing
Forced/illegal marriage
clothing from older people).
Sexual abuse.
Returning after having been missing, look well cared for
Recognising and Identifying Trafficked Children despite having no known base.
In a private fostering arrangement which has not been
High Level Concerns registered or child being cared for by adult(s) who are
not their parents (except those in social work care).
Claims to have been exploited through sexual exploitation, Is permanently deprived of a large part of their earnings
criminality (i.e. cannabis farms, petty street crimes, by another person/no control over earnings.
begging etc.), labour exploitation, domestic servitude, Goes out the same hours everyday (unless legitimate,
forced marriage, illegal adoption and drug dealing by verified work).
another person. Works in various locations.
Is located or recovered from a place of exploitation and/ Has limited freedom of movement.
or involved in criminality that highlights the involvement Is excessively afraid of being deported.
of adults, e.g. is recovered from cannabis farm/factory,
Indicators of working (tired in school, condition of hands
brothel, street crime, petty theft, pick pocketing, begging.
etc.).
Claims to be in debt bondage or "owes" money to other
Does excessive housework around the house.
persons/has to pay of large debts.
Appropriate adult cannot provide photo ID.
Has entered the country illegally.
Involved in underage marriage.
Has no passport or other means of identification.
Has false documentation or genuine documentation that General Concerns
has been altered or fraudulently obtains or the child claims
that their details (name, DOB) on the documentation is Significantly older boyfriend/girlfriend
incorrect. Placement breakdown
Claims to have been in the country for years but has not Has gone missing from local authority care
learned the local language or culture. Is registered at a number of different addresses
Is unable to confirm the name and address of the person Is malnourished
meeting them on arrival. Is withdrawn and refuses to talk or appears afraid to talk
Has had their journey or visa arranged by someone other to a person in authority
than themselves or their family. Exhibits self-assurance, maturity and self confident not
Is unable, or reluctant to give details of accommodation expected to be seen in a child of such age
or other personal details. Does not appear to have money but does have a mobile
Reports from reliable sources suggesting the likelihood phone
of involvement in sexual exploitation. Has not been registered with or attended GP practice
One among a number of unrelated children found at one Has not been enrolled in school
address. Truancy/disengagement with education
Child Abuse and NeglectHow do We Protect these Children? 801
Receives unexplained/unidentified phone calls whilst in whether individuals are culpable specifically for the crime of
placement/temporary accommodation abuse of children.
Shows physical or emotional signs of physical or sexual
abuse ACKNOWLEDGEMENTS
Has a history of missing links and unexplained moves
1. Hobbs C. Physical Signs of Child Abuse. London: WB
Evidence of sexually transmitted infection or unwanted
Saunders Co, Ltd; 1996.
pregnancy
2. Elsevier Publications.
Known to be sexually active
3. Perry BD.
Evidence of drug, alcohol or substance misuse 4. Scottish Government Department of Health.
Adults loitering outside the childs usual place of resident 5. RCPCH Child Companion Document, RCPCH 2006.
Accounts of social activities with no plausible explanation 6. McNamee P. Personal Assistant to Dr Jean Herbison and
of the source of necessary funding to the staff of the Child Protection Unit, NHSGGC.
Pattern of street homelessness
Acquisition of money, expensive clothes, mobile phones References
or other possessions without plausible explanation
Low self-image, low self-esteem, self-harming 1. Scottish Executive. (2002). Its everyones job to make sure
behaviour including cutting, overdosing, eating disorder, Im alright. [online] Available from www.scotland.gov.uk/
Publications/2002/11/15820/14009 [Accessed November 2002].
promiscuity 2. Falkov. Study of Working Together 1996, Part and Report.
Entering or leaving vehicles driven by unknown adults Fatal child abuse and parental psychiatric disorder. An
Possible inappropriate use of the internet and forming analysis of 100 area Child Protection Committee Case
on-line relationships, particularly with adults Reviews conducted under the terms of part 8 of the Working
Known to beg for money.23 Together under Children Act 1989. London, Department of
Health 1996.
3. Rederand Duncan. Adult Psychiatrya missing link the child
CHILD PROTECTION STANDARDISED protection network. Comments on Falkovs Fatal child abuse
PROCEDURES and parental psychiatric disorder. Child Abuse Review,
1997;6:35-40.
Roles and responsibilities of various professionals and
4. Social Care Institute for Excellence (2009). SCIE Guide 30:
agencies and that everyone is clear about what everyone does Think child, think parent, think family: a guide to parental
in protecting a child. Where the responsibilities lie and who mental health and child welfare. [online] Available from
has responsibility to act often is not clearso children fall www.scie.org.uk/publications/guides/guide30.
through gaps with professionals thinking it is someone elses 5. Hughes H. Impact of spouse abuse on children of battered
job. womenViolence Update. 1992;1:9-11.
6. McWilliams M, McKiernan J. Bringing it out into the open:
Inter-agency and inter-professional case discussions or
Domestic Violence in Northern Ireland. Belfast: HMSO;1993.
planning meetings are essential to ensure that information is 7. National Childrens Home. 1994. [online]Available from
shared in detail and the child is helped throughout the whole www.nch.org.uk
process of assessment and investigation and that they are not 8. Bakken J, Miltenberger RG, Schauss S. Teaching parents
further traumatised throughout this time by the process itself. with mental retardation: knowledge versus skills. Am J Ment
Clearly standardised documentation is critical. It must Retard. 1993;97(4):405-17
be contemporaneous, i.e. written as soon as is possible on 9. Tymchuk AJ. Symptoms of Psychopathology in Mothers
with Mental Handicap. Mental Handicap Research. 1993;Vol
speaking with the child/family or child or with others. It
6(1)18-35.
is best to document everything clearly, preferably in typed 10. McGaw S, Newman, T. What works for Parents with learning
reports which have adequate analysis and conclusions disabilities? 2005.Ilford: Barnardos.
(Appendices 37.1 to 37.6). 11. Department of Health and Department for Education and
Skills. (2007). Good Practice Guidance on Working with
LEGAL SYSTEM Parents with a learning disability.[online] Available from
www.dh.gov.uk. [Accessed June 2007].
There are various legal systems throughout the World. In 12. National institute for clinical excellence (NICE) Guideline.
Scotland, the Child Protection Childrens Hearing System is (2009). When to Suspect Child Maltreatment. [online]
a "tribunal" system involving lay members of panels deciding Available from www.nice.org.uk. [Accessed 2009].
on interventions on advice of multi-agency assessments. 13. RCPCH. 2006. Child protection companion. London [online]
There is also an adversarial criminal process to decide upon Availble from www.core-info.cf.ac.uk. [Accessed 2006].
802 Hutchison's Paediatrics
14. Sugar NF, Taylor JA, Feldman KW. Bruises in infants 20. ILO. (2002). Every Child Counts. New Global Estimates
and toddlers: Those who dont cruise rarely bruise. Arch on Child Labour ILO/PEC Geneva. [online] Available from
Paediatric Adolescent Medicine. 1999;53:399-403. www.ilo.org/ipecinfo/product. [Accessed 2002].
15. Summit RC. The child sexual abuse accommodation 21. UNICEF. (2005). Combating Child Trafficking: Handbook
syndrome. Child Abuse Negl. 1983;7(2):177-93. for Parliamentarians. [online] Available from www.unicef.
16. Sgroi SM. Sexual molestation of children: The last frontier in org/publications. [Accessed March 2005].
22. United Nations Office on Drugs and Crime.(2006). Trafficking
child abuse: Child Today. 1975;4:18-21.
in Persons: Global Pattern. [online] Available from www.
17. Healty MA. Child Pornography: An international perspective.
unodc.org/documents/human-trafficking/HT/globalpatterns/
1996. en_pdf) [Accessed April 2006].
18. [online ] Available from www.interpol.int/Public/Children/ 23. Glasgow Child Protection Committee. (2001). Glasgow Child
Default.asp. Protection Committee Inter-agency Guidance for Child Trafficking.
19. RCPCH. (2009). Fabricated or Induced Illness by Carers (FII): [online] Available from www.glasgowchildprotection.org.uk/NR/
A Practical Guide for Paediatricians. [online] Available from rdonlyres/AADFD622-A183-4B96-9D5E-D6F3C2C37A79/0/
http://www.rcpch.ac.uk/Health-Services/Child-Protection/ GLASGOWCHILDTRAFFICKINGGUIDANCESept09.pdf)
Child-Protection-Publications. [Accessed 2009]. [Accessed June 2001].
Child Abuse and NeglectHow do We Protect these Children? 803
Appendix 37.1
This divider should be inserted into the medical notes once Section 2
child protection or child welfare concerns are identified and
an initial telephone referral to social work has been made. The standard operating procedurethis is for child
(Yorkhill Child Protection Procedure and Guidance, held protection and should be activated and completed during
in blue folders on all wards or on the Yorkhill Intranet for childs stay as in-patient (Appendix 37.3).
further guidance).
This section must be retained behind the identification Section 3
labels at the front of the case notes.
All staff involved in the childs care, who have information Multi-disciplinary chronological record and continuation
related to the child protection concern, must use this section sheets as necessary (Appendix 37.4).
to keep a record of their involvement and concerns, ensuring Action plan(s) as many as necessary should be completed
that a chronological, complete and integrated review is at point of contact or as concerns are identified (Appendix
possible. (There can be cross-reference to more complete 37.5).
entries in the medical notes or in locally held files.) Conclusion to child protection/child welfare concerns
Record keeping must comply with professional this should be completed prior to discharge (Appendix
standards: All information must be factual, clear, succinct, 37.6).
contemporaneous, dated and timed and the person completing The lead consultant will be responsible for maintaining
the entry must sign the records and print their name and an overview of this section.
designation clearly. Prior to discharge, agreement for the child to be
What to file in this section: discharged must be confirmed with the lead consultant and
the relevant social worker in the social work department
Section 1 (this may be by fax) and documented in this section. Plans
Comprehensive Health Evaluationthis evaluation to for the protection of the child post-discharge must also be
be conducted and recorded by paediatrician at specialist briefly recorded together with the name and designation of
registrar (SPR) grade in full collaboration with receiving the person to contact in the event of a query.
consultant paediatrician/surgeon. To be signed off by If following assessment, no child protection concerns
consultant staff only. are substantiated; this should be clearly recorded by the
All subsequent medical notes for the child must be lead consultant and agreed by the social worker involved.
documented in this section (Appendix 37.2). However, this section is retained in the notes.
804 Hutchison's Paediatrics
SECTION 1
Comprehensive Health Evaluation
Appendix 37.2
Postcode:
Siblings DOB
DOB
DOB
DOB
DOB
DOB
Unborn Child
DOB: DOB:
GP Referrer
Address Address
Location of Examination:
Paediatric Ward Specialist CP Unit
Relationship to Child
Mother in attendance? Yes No Father in Attendance? Yes No
Consent to Health Assessment and Information Sharing (source i.e. parent, young person, person holding parental rights)
Parents signature:________________________________________________
Young persons signature: ________________________________________________
_________________________ _________________________ _________________________
Name Relationship Date
Witnessed By:
_________________________ _________________________ _________________________
Name Position Date
Birth Details
Antenatal Problems: Maternal drug/alcohol misuse, pregnancy induced hypertension, limited/no antenatal care.
Hospital/Place of Birth:
Birth Weight: Neonatal Hearing Test: YES /NO
Gestation: PASS /FAIL
Type of Delivery: Guthrie: YES /NO
Any Neonatal Problems:
(Give brief description, e.g. SCBU, Jaundice, drug withdrawal, etc.)
Family History
Include any Significant Family History
Child Abuse and NeglectHow do We Protect these Children? 809
Meningitis C 1 2 3
Measurements
Weight kg centile
Height cm Centile
Head circumference cm Centile
Findings on external physical examination
Comment
Skin and hair
Teeth
Eyes
Ears, nose and throat
Cardiovascular system
Blood pressure (if applicable)
Respiratory system
Alimentary system
Genitalia/testes
Nervous system
Locomotion/posture
a) Visual acuity R
L
b) Hearing R
L
Child Abuse and NeglectHow do We Protect these Children? 811
Paediatrician
S & L Therapy
Occ. Therapy
Physiotherapy
CAMHs
CONCLUSION/OPINION
Child Abuse and NeglectHow do We Protect these Children? 813
Audiology Dietician
Speech therapy OT
CAMHS
Physio
SECTION 2
Standard Operating Procedure
STANDARD OPERATING PROCEDURE IN Regular updates to the child, if age appropriate and
the parents should be made by both social services and the
RELATION TO CHILD PROTECTION CONCERNS
childs consultant as to the progress of any child protection
This standard operating procedure (SOP) is in relation to the investigation.
management of child protection concerns when a child is in Communication is a key in effective child protection work.
A and E, short stay ward or an inpatient within the general It is essential to record fully all concerns and assessments and
wards in the Royal Hospital for Sick Children (RHSC) subsequent decisions and actions. This SOP does not replace
Glasgow, Scotland (UK). The general principles can apply this process but rather compliments fuller documentation in
to all children in all departments; however, some specialist relation to child protection concerns (comprehensive health
services may require to develop further guidance. evaluation and multi-disciplinary record). When referring to
This has been designed to equip staff with a process to social work department follow-up telephone referral using
follow, which will support communication both intra and multi-agency referral form.
inter agency inform the management of the child in relation to
child protection concerns, and ensure prior to discharge, that Note
processes are in place to protect the child. It is not a stand- The child protection unit operates monday to friday 8.30
alone procedure and must form part of a larger framework am5.00 pm. Child protection advisors are available
for all staff in relation to their child protection practice. within these times to offer information, advice and
This SOP should be activated when child protection support in relation to child protection concerns. Tel:
concerns are first identified. This may be either at the point Child protection medical team may be contacted at any
of admission to hospital or at a later stage in the childs time for advice, to assist with assessment or to share the
stay when concerns become apparent. This SOP should be clinical management of a child where there are child
activated when: protection concerns: monday to friday 9 am5pm,
A child is brought to hospital by the police and/or social Telephone: Out of hours, the on-call consultant can be
work in relation to child protection concerns. obtained through hospital switchboard
A child is transferred from another hospital with identified
child protection concerns. In All Child Protection Cases, Social Work Must be
Another professional alerts the hospital that the child Informed at the Earliest Point:
If MondayThursday between 8.45 am and 4.45 pm and
would be attending with child protection concerns.
Fridays between 8.45 am and 4. Contact the hospital
On admission staffs identify child protection concerns.
social work team on Telephone
As an inpatient staff identifies child protection concerns.
If out of hours/weekend/public holiday, contact social
This may be because:
work standby services on Telephone
There are concerns regarding the child
If a child is brought in by the area social work, or area
Behaviour of the parents social work is investigating an incident, please inform the
Other information becoming known hospital social work team for information only
Child (or adult) discloses abuse. Identify the named social worker for the child and record
it in the casenote.
Parents
Wherever possible we would strive to work in partnership Who Can Use Standard Operating Procedure
with parents, maintaining an open and honest approach in Any member of staff can activate SOP. This would normally
relation to any concerns noted and subsequent actions taken. be following discussion with the consultant in charge of the
This information should be shared with parents (and child childs care and/or the nurse in charge. The documentation
if appropriate) at the earliest opportunity. In exceptional will be widely available in clinical areas and thereafter kept
circumstances, there would be a delay in sharing information in the childs medical case notes and reviewed on ward
if it was felt that to do so would place the child or staff round. If SOP is activated, child protection documentation
member (s) at further risk. should also be activated to fully record issues.
Child Abuse and NeglectHow do We Protect these Children? 815
Appendix 37.3
IfYou are referring a child to social work, you should also inform
This second section addresses issues of the management for the childs care
If the child is subject to a child protection order or supervision order requirement, the following procedure must be followed
Address:
Relationship to child:
Date:
Time:
Place:
Contact details:
818 Hutchison's Paediatrics
SECTION 3
Multi-Disciplinary Chronological Record
Appendix 37.4
All staff involved in the childs care, who have information related to the child protection concern, must record their
involvement and concerns, ensuring a chronological, complete and integrated review is possible. This record must include
all key points but may also be cross-referenced to more complete entries in the childs medical notes or in locally held files.
Date and Time Event/Child Protection Related Signature, Print Name and
24 hour clock to be used for all timed Information Designation
entries
Child Abuse and NeglectHow do We Protect these Children? 819
Appendix 37.5
The action plan will be completed by key health professionals and placed into the child protection/child welfare section of
the childs medical notes.
Childs Name:
Hospital Number:
Key Points/Issues:
Action Plan:
Senior Nurse:
Print Name: Signed: Date:
Social Worker:
Print Name: Signed: Date:
820 Hutchison's Paediatrics
Appendix 37.6
This form to be jointly completed by social worker and lead consultant in all cases where a child about whom there has been
child protection concerns is being discharged where child protection concerns have been investigated and no longer remain.
In these circumstances, both the social worker and the lead consultant must be satisfied that the child will be protected or is
no longer in need of protection.
DOB:
Child is being discharged with child protection plan in place.
Please give brief details of plan and local contact number (e.g. follow-up by childs local authority):
Child Protection concerns have been investigated and no longer remain:
Social Worker:
Print Name: Signed: Date:
Lead Consultant:
Print Name: Signed: Date:
A copy of this form to be kept on both the medical notes and in the childs social work file. If further concerns arise in the
future, please contact the social work department and refer the case using the multi-agency child protection referral form.
Alastair Turner, Robert Carachi, Krishna M Goel
C H A P T E R
Practical Paediatric
Procedures 38
INTRODUCTION Distraction methods can be used with toys or visual/auditory
stimulation such as lights, gentle music or blowing bubbles.
Success and confidence in the skilled performance of The involvement of a play specialist can be very helpful
practical procedures come from frequent repetition. These depending on the situation. The use of a dummy to promote
are best learned by demonstration followed by practice under non-nutritive sucking can help calm infants. Procedures
supervision. This chapter gives practical details which may should usually be performed in a fully equipped specialised
reduce the period of learning and increase the chances of area that allows privacy and minimises excessive noise and
success. The chapter has been divided into two sections: interruptions. Staff members present should be kept to a safe
(1) routine practical procedures and (2) other practical minimum.
procedures.
RESTRAINT
PREPARATION FOR PRACTICAL PROCEDURES
When considering physical restraint of children to facilitate
Before performing any procedure on a child it is essential to practical procedures consideration must be given at all times
obtain consent from the childs parents or guardians. Older to the risks versus benefits experienced by the child. Gentle
children who are deemed competent may give their own protective physical containment to allow quick, simple
consent. Consent should be fully informed allowing time for procedures may be acceptable when balanced against the
questioning and be obtained by the person performing the risks of sedation. Examples of this are venous cannulation
procedure. The only exception to this is in the life-threatening and lumbar puncture (LP) in acutely unwell children when
emergency situation if a parent or guardian is unable to be a combination of simple techniques as described above
contacted in time. In this situation, it is justifiable to offer combined with gentle restraint may reduce or negate the need
immediate life-saving treatment whilst attempts are made to for sedation. Procedures that potentially take longer or are
contact the parents. more painful require more formal sedation or anaesthesia as
Performing practical procedures in children can be the potential distress experienced by the child outweighs the
challenging. It is essential that the operator safely carry out risks of sedation or anaesthesia when performed properly.
the procedure without causing injury to the child or staff Forcible restraint is never acceptable.
members. The child may be frightened or in pain and will Providing gentle protective physical containment is
often resist any attempts at even relatively simple procedures often best achieved by the childs parent firmly but gently
making the process potentially difficult and hazardous. It is, holding the child. This can be achieved with the child sitting
therefore, important to recognise that whilst performing any on the parents lap, facing the parent with the childs arms
procedure a balance must be struck between the necessity protruding under the parents axillae and being gently cuddled
to carry out the procedure versus the risk of distressing or by the parent. This allows the operator access to the childs
injuring the child. arms and legs for procedures such as venepuncture or venous
Simple techniques are often successful at reducing cannulation whilst the child is comforted by their parent.
the childs anxiety and thus facilitating any procedure. Some children prefer to sit facing forward and observe the
Parents should usually be encouraged to remain as their procedure themselves, whilst being held by their parent,
presence frequently reduces any distress felt by the child. as not being able to see what is happening to them may in
822 Hutchison's Paediatrics
is then repeated for the left arm, using the double layer of
sheet which now lies on the infants left side. Finally it is
important to pull the two upper corners, which have been
passed behind the back, firmly up through the right axilla.
For further control, a second sheet can be wrapped round the
A infants legs. This method of restraint will sometimes permit
the paediatrician to perform practical procedures single-
handed, very much a second best choice.
Sedation
The purpose of sedation is to induce a transient state
of minimal or moderate drug-induced depression of
consciousness in the child whilst the child still responds
purposefully to verbal commands or gentle tactile
stimulation and maintains a patent airway, spontaneous
ventilation and normal cardiovascular function. Levels
of depression of consciousness beyond this should be
considered as general anaesthesia and require the presence
C of a fully-trained anaesthetist. Procedures lasting more
Figs 38.1A to C: Restraining a baby than 45 minutes should also be considered for general
anaesthesia. Extensive guidelines for the safe sedation of
itself be anxiety provoking. Light straps to protect children children exist and are referred at the end of this chapter.
from hurting themselves are also acceptable for very brief Sedation may be unnecessary for brief practical
procedures where it is deemed sedation is not necessarily procedures in young infants. The use of sweet oral solutions
required and a description follows: of sucrose administered prior to painful procedures has been
With a towel or sheet and a capable nurse an infants demonstrated to have a powerful analgesic and calming effect
arms may be restrained so that the head, neck or the femoral in infants and when combined with other simple measures
area can be safely and easily acupunctured (Figs 38.1A and such as a soothing voice and dummy may pacify an infant for
C). A rectangular sheet is spread out on the table with the short periods. Sucrose oral solution (approximately 0.25 ml
short edges of the sheet to the left and right of the nurse. The of 33% solution) should be administered 2 minutes before a
infant is laid in the centre of the sheet at right angles to its painful procedure and can be repeated up to a total of 2 ml
long axis, with feet pointing to the nurse and only the head during the procedure. Sucrose is only effective when given
and neck projecting beyond the upper border of the sheet. orally and has no effect when given via a gastric tube.
The nurse then straightens the infants right arm adducted Sedative drugs can at times produce unexpected or
beside his trunk and folds the sheet on that side so that the unwanted effects, particularly excessive sedation and
short edge passes in front of the right arm, down through respiratory compromise from either airway obstruction or
the right axilla and across behind his back. This end of the hypoventilation. At times a paradoxical hyper-excitable state
sheet is then pulled tightly so that its short border is close may arise rather than the desired sedative effect. As such the
to the short border on the infants left hand side with the administration of sedative drugs should be taken seriously
upper corner level with the infants shoulders. This holds the and the person administering the drug be prepared to deal
adducted right arm close against the chest. The procedure with any potential side effects as they arise.
Practical Paediatric Procedures 823
Patient selection: High-risk patients who require sedation Chloral hydrate (oral): Unpredictable absorption. May
should be referred to a fully trained anaesthetist. Such cause hyperactivity. Dose 1050 mg/kg.
patients include patients with potential difficult airways Multiple sedative drugs should not be used in the same
(e.g. Pierre Robin syndrome, Treacher Collins syndrome), patient as they may cause potent respiratory or cardiovascular
children at risk of hypoventilation (e.g. children with compromise.
obstructive sleep apnoea, neuromuscular disorders) and
patients with respiratory or cardiovascular compromise Analgesia
(e.g. bronchospasm, cardiomyopathy, significant Local anaesthesia: Topical anaesthesia is available in the form
congenital heart disease). Younger children and infants of a lidocaine 2.5%/pilocarpine 2.5% cream (EMLA, Astra
have a higher risk of complications, particularly those Zeneca pharmaceuticals Ltd), which is applied to a small area
under 1 year, and consideration should be given to the of skin 1 hour before the procedure under occlusive dressing.
appropriateness of sedation in all children under 5 years It is not recommended for preterm neonates. The area is then
of age. cleaned with alcohol and a needle can then puncture the skin
Patient preparation: Due to the risk of excessive sedation painlessly. This method is especially suitable for recurrent
and possible aspiration children should be fasted prior to procedures. An alternative is amethocaine gel (Ametop)
the administration of sedative drugs (6 hours for solids which appears to be equally efficacious but has a slightly
or bottle milk, 4 hours for breast milk, 2 hours for clear faster onset of action (30 minutes). Both are suitable for
fluids) unless nitrous oxide (N2O) is the only sedative venepuncture and LP analgesia.
used when 2 hours is acceptable. The most common type of local anaesthesia used for local
Environment preparation: Sedation should be performed infiltration is lidocaine which is manufactured in 0.5%, 1%
in an area fully equipped for all resuscitation scenarios. and 2% strengths. The dose is calculated on the bases of the
This should include immediate access to oxygen (O2), patients age and weight. The two best methods of infiltration
airway adjuncts, bag/mask ventilation, intubation or administration of local anaesthesia is either a field block
equipment and a defibrillator. or a regional nerve block. There is also a lidocaine and
Monitoring preparation: Patients undergoing sedation adrenaline mixture which can be used as a local agent with
should be monitored using a chart documenting level of the adrenaline, a local vasoconstrictor helping to maintain
consciousness, heart rate, respiratory rate, blood pressure a longer lasting effect of the anaesthesia and to decrease
and colour. Infants should have their temperature capillary bleeding. This should never be used in areas
monitored. The patient should have a pulse oximeter and supplied by end-arteries, e.g. digits, ears, nose, penis, etc.
ECG monitor attached to them. where it can cause ischaemia.
Staffing preparation: At least two staff are required Non-opiate analgesics: Paracetamol and non-steroidal
to be present at all times. One staff member must be inflammatory drugs (e.g. ibuprofen) are useful analgesics
responsible for administering the sedative and monitoring but tend to have slow onset of action and are, therefore,
the patient solely (that is not performing the procedure as not particularly useful for procedural analgesia although
well). provide good ongoing post-procedure analgesia. For the use
The following are appropriate sedative drugs: of sucrose in infants see earlier.
Nitrous oxide (inhaled gas): Self-administration using a Opiate analgesics: Intravenous morphine is the standard
demand valve may be used in children who are able to opiate analgesic of choice for severe pain. The dose is
self-regulate their intake (usually over 5 years of age). 100200 mg/kg (max 10 mg) and subsequent doses can
Usual dose 50% N2O/50% O2. Maximum dose 70% be titrated to effect. Intranasal diamorphine is also being
N2O, 30% O2. Rapid onset/offset with full recovery increasingly used (0.1 mg/kg) as a single dose. Fentanyl and
in 5 minutes. Contraindicated in pneumothorax, bowel remifentanil should not be used by non-anaesthetists. Opiates
obstruction and intracranial air (skull fractures) as may should not be used for sedation unless an analgesic effect is
diffuse into air pockets causing them to expand. also required. The combination of sedative drugs and opiates
Midazolam (oral/buccal or IV): Oral (0.5 mg/kg) can lead to profound respiratory depression and immediate
maximum effect in 1560 minutes but absorption may access to naloxone should be available.
be erratic. IV (0.10.15 mg/kg) maximum effect in For very painful, frightening or multiple procedures
15 minutes. Major risk of respiratory depression and general anaesthesia may be necessary. For the administration
occasionally cardiac depression. May paradoxically of a general anaesthetic, a trained paediatric anaesthetist
cause agitation. should be present.
824 Hutchison's Paediatrics
A B
C D
E F
Table 38.1: Hand hygiene summary Do not wear nail varnish, artificial nails or extensions
Hand hygiene Products Duration of Clinical procedures Keep nail tips short and clean
procedure technique Remove stoned rings and wrist items before procedure
Social hand Plain soap 15 seconds Non-clinical Cover all cuts and abrasions with water-proof dressings
hygiene and running procedures
water Blood Sampling
Or Handling or eating
food Blood sampling or venepuncture is a frequently carried out
Alcohol hand After a visit to the procedure of entering a vein with a needle, usually to obtain
sanitiser toilet a sample of blood.
(visibly clean
hands only)
Equipment Required
Antiseptic Antibacterial 1530 Before and after
hand hygiene soap seconds aseptic procedures Tourniquet
Or Vacutainer and double ended needle or needle and syringe
Plain liquid Following microbial Alcohol swabs or chlorhexidine/alcohol
soap to wash, contamination of
followed by an hands Cotton wool
application of Care of patient Micropore or plaster
alcohol hand in source or Collection of tubes
rub/gel protective isolation
Re-sheathing device
Surgical scrub Antibacterial 25 minutes Before surgical
soap interventions Kidney dish
Or Sharps container
Plain liquid Gloves
soap to wash, Relevant forms.
followed by an
application of
alcohol hand
Method
rub/gel Welcome patient, check identity and explain procedure (if
Before and after: child, earlier use of EMLA/Ametop cream may be required).
Patient contact Identify tests required and associated requirements, e.g.
Contact with body fluids, your own or patients' fasting status, timing of medication.
Wearing gloves Select correct tubes and forms; fill in form accurately and
Isolation nursing clearly. Remember a group and save or crossmatch sample
Food handling must be handwritten rather than using an addressograph
Invasive procedures label.
Contact with contamination sources 1. Support patient's arm comfortably
Caring for susceptible/high-risk patients
2. Select a vein
Hand Hygiene Products 3. Prepare needle holder and needle out of sight of child
4. Apply tourniquet or ask member of staff to apply
There are many hand hygiene products available for health
pressure to arm
care staff. It is important to choose the correct product at the
5. Put on gloves
appropriate time (Table 38.1).
6. Cleanse skin
Types of Hand Wash 7. Steady vein with left hand and palpate above point of
Social hand wash: 1015 seconds entry as guide. Insert needle under skin-keeping angle
Hygienic/antiseptic hand disinfection: 1530 seconds low and bevelled edge uppermost
Surgical scrub: 25 minutes 8. Attach vacuum tube and advance needle into vein. Wait
for tube to fill up and change to next tube, as necessary
Points to Consider 9. Release tourniquet before removing final tube, cover
Wet hands before applying liquid soap needle site with swab and remove needle, apply gentle
Work up a soapy lather at start of technique pressure
Cover all areas of hands, including backs of hands, finger 10. Discard needle holder and attached needle in a sharps
tips and between fingers bin. Do not re-sheath
826 Hutchison's Paediatrics
11. Ask patient or parent to apply pressure, while labelling The operator sits at the babys head and rotates it through
tubes and completing forms 90 degrees and extends the neck where it is maintained by
12. Check puncture site and apply dressing. Check patient the assistant. The external jugular vein can then be seen
has no allergies prior to applying dressing. crossing the sternomastoid muscle and it is punctured at this
point. Puncture is easier when the infant distends the vein
Collection of Blood Samples by crying, as is not uncommon. Care should be taken not
to allow air to enter these veins. Sometimes the shaft of the
Capillary Sampling needle has to be carefully bent to an angle from its butt to
Improved techniques of microanalysis allow many allow easy access for the syringe and needle. Sterile care and
investigations on blood to be carried out on capillary samples. gentle handling are required to keep the needle safe.
A drop of capillary blood contains at least 50 microlitres. A
Femoral Vein
heel is the most useful source in the newborn whereas in
older infants and children a digit is satisfactory. If the heel The hips are fully abducted and the knees flexed to 90 degrees
is used it is important to lance the fleshy side of the heel are held onto the table surface by the nurse. The femoral
rather than the midline as midline puncture may damage the artery pulse is palpated and the femoral vein entered just
calcaneum and lead to osteomyelitis. The ear lobe is said to medially to this in the inguinal crease. The needle should enter
be less painful and flow can be speeded and arterialised by the skin at 45 degrees. Blood is often more easily obtained
rubbing alcohol on the skin. The skin should be warm. The when the needle is withdrawn whilst gently aspirating. A
cleaned skin is pricked with a cutting stylet. A single vertical needle finer than 21 gauge might be ineffective. It is easy
prick may produce a good flow in a child but to obtain a large to produce a haematoma and transient cyanosis of the leg
volume from a neonate a slit should be cut in the heel a few if the adjacent artery is accidentally punctured. Application
millimetres in length. The cut need not be deep. This method of firm pressure for at least 2 minutes after venepuncture
is valuable when repeated capillary samples are required over is, therefore, an important precaution. Rare complications
a short period when only an initial cut is required. Further include spasm of femoral artery with ischaemia of the foot,
bleeding is stimulated at intervals by cleaning away the clot. infected haematoma, and osteitis of the femur and arthritis of
A disadvantage of capillary sampling is that haemolysis of the hip. If the artery is accidentally punctured pressure should
some degree is likely. This can be reduced by ensuring a be maintained for 5 minutes or longer if blood continues to
fast flow and using siliconised tubes. Frothing or drying ooze from the puncture site.
of the sample is potent causes of haemolysis. For certain
Fontanelle Tap (Sagittal Sinus-Tap)
investigations the capillary blood can conveniently be taken
directly into glass capillary tubes (e.g. for gas analysis) or Fontanelle puncture and aspiration of blood is not routinely
spotted onto special filter papers (e.g. for chromatography). recommended due to the risk of complications. It may be
used, however, in the emergency setting when other attempts
Venepuncture at venous access have proven unsuccessful. The sagittal sinus
Sampling is always more successful if a good fit between is easily punctured in any infant whose anterior fontanelle
syringe and needle is ensured before puncture and if blood is is still patent. The anterior fontenelle may not close until
withdrawn slowly with moderate suction. well past the age of 18 months, although this delay can also
occur in hypothyroidism, rickets, hydrocephalus and even
Superficial Veins in some healthy children. The infant is held in the supine
position, the occiput just inside the edge of the table and the
The puncture of superficial veins is the safest type of face pointed to the ceiling held firmly by the nurses thumbs
venepuncture. No complications are to be expected if the against his temples. The operator sits facing the top of the
skin is cleaned and pressure applied to ensure haemostasis. head and cleans the area around the proposed puncture with
Any visible vein in the back of the hand, the dorsum of the iodine or alcoholic chlorhexidine. An especially hairy head
foot, the antecubital fossa, or the scalp may be used. Scalp may mandate local shaving. The site of entry of the needle
vein sets (21, 23 or 25 gauge) are often used. is the posterior angle of the anterior fontanelle in the midline
(either at right angles to the scalp in all directions or angled
External Jugular Vein
backwards toward the occiput but in the sagittal plane) to
A superficial vein often visible in the infant is the external a depth of approximately 2 mm. Steadying the hand on
jugular. It is often reserved for when attempts at all other veins the scalp and the needle against the forefinger of the other
have failed and capillary blood sampling is inappropriate. hand makes it less easy for the point to penetrate too deeply
Practical Paediatric Procedures 827
from the initial force necessary to pierce the scalp. A brief contamination and under optimal conditions for harvesting
resistance is felt as the fontanelle is penetrated and blood is the offending organism.
freely aspirated if positioning is correct. It is easy to go too Employ at least two culture bottles containing different
deep if the hand does not steady the needle. As soon as the media from your laboratory. The risk of contamination is
needle has been removed the child is sat up and pressure increased if blood is not drawn cleanly on the first insertion of
applied to the puncture site with a swab. When crying stops, the needle. The skin is first cleansed with iodine in spirit. An
the pressure in the sinus is no longer great enough to cause alternative that may reduce the risk of contamination further
bleeding and haemostasis results. is 2% chlorhexide in 70% ethanol solution. The cap of each
It is important that the head is held firmly throughout. of the culture bottles is also wiped with 2% iodine in 70%
If the operator misjudges the position of the sagittal sinus ethanol solution. The iodine or chlorhexidine on both skin
cerebrospinal fluid (CSF) may be aspirated from the adjacent and bottle caps is allowed to dry. With the infant suitably
subarachnoid space. Occasionally CSF leakage may follow held the chosen vein is punctured through the iodine stained
causing oedema of the scalp. If the needle is inserted too skin. The needle should either be sterile and disposable or
deeply it will enter the brain with the small but potentially autoclaved. The shaft must not come in contact with the
important risk of local bleeding. Sagittal sinus thrombosis is finger before introduction into the vein. After the sample is
a serious possible complication of fontanelle puncture. It is, obtained the original needle is removed from the syringe and
however, often more likely to be a consequence of underlying a second needle is used to inject the blood into the culture
disturbance (such as severe dehydration) than the needling. bottles. The iodine or chlorhexidine should be washed from
Inability of skilled hands to obtain blood by this route from the infants skin with 70% alcohol. The blood culture bottles
an ill dehydrated baby suggests that thrombosis of the sinus are immediately placed in the incubator. Further processing
has already occurred. is handled by the microbiologist.
If lying and standing measurements are required as the nurse) observes the white arm and the other observer
when assessing the effect of hypotensive agents it is easier slowly but steadily deflates the cuff while watching the
to measure the pressure in the arm in the supine position manometer. When the end-point is reached a distinct pink
first and then allow the child to stand with the cuff still in flush spreads down the arm and the level of mercury in the
position. The blood pressure in the leg is taken in a similar manometer indicates the blood pressure. The flush may occur
fashion except that the child lies comfortably prone with head suddenly so that the observers must be consistently attentive
turned to one side or supine with the knee slightly flexed. or the end-point may be missed. Once the flush has occurred
The cuff is applied to the thigh and again should be of a the technique cannot be reapplied satisfactorily to that limb
size that covers two-thirds of the length; auscultation is made for 15 minutes or more. The technique is used in the same
over the popliteal artery in the popliteal fossa. manner to obtain the pressure in the leg.
For the blood pressure measurement so obtained to be
at all accurate the child should be co-operative and at ease. Automated Blood Pressure Measurement
If he is crying or restless then the record will obviously be Many hospitals now use automated blood pressure
worthless although it is often useful to apply the cuff and measurements that are derived from either a Doppler or
go through the motions in the hope that future attempts may oscillometric measurement from an inflated cuff. This
be accepted with less apprehension. It is useful to place the removes the need for a mercury sphygmomanometer
manometer in such a position that the patient may watch and allows for repeated, safe, accurate blood pressure
the rise and fall of the mercury column (without raising his measurements.
head!) since this may gain his quiet interest.
Intravenous Cannulation
The Flush Technique
As with any procedure you must always introduce yourself
Difficulty in auscultating the artery and in obtaining and ask permission from the patient or parent before
the required degree of co-operation often makes the attempting the procedure. Intravenous cannulation is one
sphygmomanometer method impracticable in the infant. A of the most frequent procedures you will be expected to
suitable alternative is the flush technique which allows perform as a junior doctor. A cannula (from the latin
reasonably accurate determination of a single blood meaning little reed) is tube which can be inserted into
pressure point considered to be somewhere between systolic the body for the delivery or removal of fluid. In children,
and diastolic levels. The advantages of this technique are consider whether EMLA cream or other dermal anaestheisa
that it requires minimal equipment and can be performed is appropriate prior to procedure as this needs to be applied
in a noisy environment. The main disadvantage is that the about 45 minutes prior to the procedure to achieve adequate
measurement is often only a crude estimate of the mean analgesia. Cannulae come in different sizes that are usually
blood pressure. colour coded and an appropriate sized cannula should be
The equipment is the standard mercury manometer, a selected (Fig. 38.3).
small cuff ( to cover at least two-thirds of the upper part of the
appropriate limb), a length of thin rubber bandage about 2.5
cm broad, a pacifier or feeding bottle to keep the infant quiet,
and two observers, e.g. doctor and nurse. The infant should
be placed unclothed, supine on a comfortable flat surface
in a warm, well-lit room. The sphygmomanometer cuff is
applied firmly in the normal manner on the upper arm but is
not inflated. The infants hand is then grasped and the rubber
bandage wound tightly round the arm from hand to elbow so
that the blood is expelled from the arm. When the bandage
has been wound to the elbow the sphygmomanometer cuff is
inflated to 200 mm Hg (this level is suggested since the actual
height of the blood pressure is not known and may be well
above normal for the infants age). The rubber bandage is
then quickly unwound. The lower arm should now be white
in colour. Once this uncomfortable stage has been reached,
if required, the pacifier or feeding bottle may be used to
quieten the infant. When he is quiet, one observer (usually Fig. 38.3: Intravenous cannulae in different sizes
Practical Paediatric Procedures 829
Indication When a cannula is tied into a vein one may be confident that
very rapid infusion can be given when necessary. For older
Administration of intravenous drugs, fluids or total
children an arm vein or wrist vein may be cannulated using
parenteral nutrition.
a plastic cannula set in preference to allowing a needle to
Equipment Required traumatise the vein.
volumeters which give an accurately dispensed volume per Fracture of a long bone proximal to the location (i.e.
unit times are available. Membrane filters with controlled fracture of femur with large haematoma which might
dimension micropores are available as a final filter for air interfere venous drainage for infusion in tibiarelative
bubbles and other particulate matter. The accidental entry contraindication)
and subsequent growth of micro-organisms converts the Unhealthy skin condition or loss of skin (e.g. burn) is not
infusion fluid pathway into a potential vehicle for infection contraindications.
with micro-organisms. Therefore, strict aseptic procedure Bone marrow depressant drugs should not be infused.
should be followed.
Equipment Required
Cut-Down Infusion Appropriate size sterile gloves
Cut-down techniques are widely known. The important point Cleaning agents, towels
for the paediatrician is to ensure that the instruments are Local anaesthetic drug (e.g. 1% lidocaine)
of appropriate size, are sterile and the scissors sharp. In a 5 ml and 20 ml syringes
general hospital with central services, it is commonplace to 2022 gauge needles
find sets with large forceps and scissors totally unsuitable for Intraosseous needle (Fig. 38.4)
delicate work on an infant. The infant should be kept warm Thread or tape to fix the needle
and oxygenated. The leg is externally rotated and bound 3-way tap and tube
to a padded splint. The incision is made above the medial Splint
malleolus and at right angles to the vein which is freed from Infusion fluid.
surrounding tissue by dissection. A ligature tied distally
round the vein occludes venous return and a small transverse Method
incision on the upper surface of the vein allows insertion of 1. Wash and dry hands with sterile towels
a plastic cannula. The cannula is passed well up the vein and 2. Wear gloves, non-touch technique
a second ligature just above the site of insertion secures it in 3. Clean and towel the area, exposing from the patella to
place. The wound is then closed with two stitches or adhesive about proximal of leg on anterior and medial aspect
strips. The handling necessary and the infusion of cold fluid 4. Identify tibial tuberosity (run your finger in the midline
may result in venous spasm and poor initial flow through the from below the patella, the first bony prominence on the
cannula. This needs not mean unsuccessful technique and proximal part of tibia) (Fig. 38.5).
patience and warmth will allow venous spasm to resolve. If the child is conscious enough to feel the pain, inject
Imaginative and dexterous use of the scalp vein sets in a local anaesthetic agent on the medial side, about 12
variety of non-scalp areas (e.g. wrist, elbow, arm, ankle, finger-breadths below the horizontal line from the
foot) greatly reduces the need for cut-down procedures. tibial tuberosity and wait for about 1520 minutes
Take the intraosseous needle
Intraosseous Needle Insertion
In a shocked patient when a pulse is feeble or not palpable
and blood pressure is very low or not recordable then it
maybe that all peripheral veins are so collapsed it is difficult
or not possible to get access quickly. It is suggested by the
Paediatric Life Support Manuals that intravenous access
can be tried for a maximum of three attempts or up to 60
seconds. If access could not be achieved by this, time should
not be wasted anymore and an intraosseous route should be
obtained for a quick and efficient infusion to fill the vascular
tree.
Indication
Failed intravenous access in a shocked patient.
Contraindications
Fracture of that boneabsolute contraindication (e.g.
fracture tibia) Fig. 38.4: Intraosseous needle
Practical Paediatric Procedures 831
Complications
Infection
Septicaemia
Fat embolism.
Suturing
Suturing of wounds is a basic practical procedure that any
doctor must be competent in. The basic steps are described
below and illustrated in Figures 38.6A to F.
Wound Preparation
Every wound should be assessed in terms of its location,
its margins, injury to, and viability of deeper structures
and tissue, the presence of foreign body in the wound and
Fig. 38.5: Intraosseous needle insertion the degree of contamination. The location of the wound
could well dictate the type of anaesthesia, wound washout
Rough estimation of the depth to reach the centre of required and the type of sutures and suturing needed. The
the bone (i.e. bone marrow) and keep the needle, margins of the wound should be healthy and viable, and
with head against the head of index finger metacarpal should come together without undue tension. If the margins
and three fingers gripping the needle for the estimated or wound edges are ischemic or necrosed they need to be
depth debrided and freshened. It is also important to exclude either
By clock and anticlockwise screwing movements, by direct visual examination or by radiology the presence
at right angle (90 degrees) to the surface of the of any kind of foreign body in the wound. The degree of
bone, introduce through the cortex to the marrow wound contamination could well decide whether a general or
(considerable force may be required when the cortex local anaesthesia would suffice, the type of wound toilet and
is thick). The needle should stand at 90 degrees when washout and the type of sutures and suturing required. The
left free. wound needs to be thoroughly cleaned with sterile saline or
Attach a tube with 3-way tap an antiseptic solution under anaesthesia.
Fix the needle and the tube with thread or tape and
then splint the joint Local Anesthesia
Inject or infuse the fluid (warm enough) See section on sedation and analgesia.
Pitfalls Sutures Including Type and Size of Sutures
The infused fluid is drained by the veins supplying the Basically suture materials come with two very important
marrow. If that bone is fractured, all/most of the fluid characteristics. They are either Absorbable or Non-
will be drained through the fracture site. absorbable. Absorbable sutures are absorbed by the body
This is an intraosseous infusion and needle should be after several weeks or months. These include Polyglactin
introduced into the bone (i.e. on the medial side of tibia). 910 (Vicryl, Ethicon), PDS II (Polydioxanone, Ethicon),
It becomes intramuscular route if injected on the lateral Polyglycolonate (Maxon, USS/DG), Poliglecaprone 25
side of the proximal part of the leg. (Monocryl, Ehicon), etc.
Oblique insertion will result in the bone entering in the Non-absorbable monofilament and multifilament include
subcutaneous area. silk, braided synthetics, monofilament synthetics including
Too strong a force, not limited to the estimated depth, prolene, ethibond, nylon, etc.
may result in penetration of the opposite cortex and the Absorbable sutures are used when continued strength is
technique will fail (becomes intramuscular infusion) and not important. It is also an important advantage in paediatric
that bone cannot be used again. patients where sutures are absorbed and do not require to
The patient may lie down still when shocked, but when be removed. They are used for subcutaneous tissues and
the circulating volume improves, the child may regain subcuticular skin closures. The non-absorbable suture is used
conscious state and start kicking the legs with the when continued strength is important, and when minimal
possibility of dismantling the needlea good splinting reaction is important. These include uses in skin and fascial
may avoid this problem. closure and for vessel anastomosis.
832 Hutchison's Paediatrics
Fig. 38.6B: Needle pushed through skin and out into the base of the
Fig. 38.6A: Gripping a suture needle with a needle driver wound. Suture pulled through first side of wound
Fig. 38.6C: Needle pushed into the base of the opposite side of the Fig. 38.6D: The U shape of proper suture placement
wound. Needle rotated out through second side of the wound
Fig. 38.6E: Loop the suture twice around the needle driver. Grab the short end of the suture with the needle drive
Practical Paediatric Procedures 833
Fig. 38.6F: Laying down first loop of a knot. Create second single loop in opposite direction. Square knot complete
Size of suture starts with 0 as the heaviest and works the long axis of the needle holder. Once used the needle
down to 7/0 which is very fine. The smaller the gauge the should be moved along the side of the needle holder tip to
heavier the suture and the greater the strength. sheath the tip of the needle. Once the suture is placed the
redundant suture is cut above the knot using two hands for
Types of Needle better control.
Different types of needles are available including round
tapered, conventional cutting, reverse cutting, tapercut, etc. Basic Techniques Including Interrupted and Mattress
Needles used in deeper tissues including vessels, Sutures
subcutaneous tissues, etc. include cutting and reverse cutting Basic suture patterns include interrupted, mattress and
needle. Needles used for skin closure should be cutting and continuous sutures.
reverse cutting, as they are atraumatic and pierce the skin An interrupted suture consists of single stitches placed in
easily. a row and each stitch had its own knot. A continuous suture
begins with an initial knot and runs continuously to the other
Instruments end of the wound before the finishing knot is tied.
Basic instruments required for suturing include the needle The most useful mattress suture is the vertical mattress
holder, tooth forceps, non-tooth forceps, scalpel and suture suture which takes deep and superficial bites providing
cutting scissors. Other requirements including cleaning and maximum suture strength and everting the wound margins.
preparation of solution, gauze swabs and drapes. Common practice is the remove sutures from the face in 35
Handling of instruments: Knowledge of technique and days whereas sutures on the limbs, hands, knees, elbow and
instruments allows for a safe and competent procedure. trunk after 710 days.
Sutures are placed on wounds with the use of tissue forceps
either tooth or non-tooth forceps and a needle holder. Nasogastric Tube
Needle holders are like artery forceps except their tips A nasogastric tube is inserted for urgent or elective reasons.
are shorter with a grooved jaw to hold a needle securely. The tube is introduced through either of the nostrils and is
The usual method to mount a needle is two-thirds of the negotiated through the oesophagus so that the tip is lying in
way proximal on the needle with its axis perpendicular to the stomach (Fig. 38.7).
834 Hutchison's Paediatrics
Method
1. Introduce yourself to the patient and explain the
procedure
2. Keep the head straight, facing the roof
3. Measure the length of the tube to be kept in (lying
positionfrom the nostril to the angle of the jaw
posteriorly and turn vertically till the epigastrium)
4. Lubricate to the measured length
5. Clean the nostril
6. Pass the tube gently through the nasal passage to the
measured length, without any resistance (patient will
cough or pull the tube if it enters respiratory tract)
7. Inject air and listen to the sound in the epigastrium (not
in the chest)
8. Aspirate the content and test with litmus paper or
pH reaction chart (should be acidic, if the tube is in
stomach)
9. Use adhesive plaster to stick the tube on the ipsilateral
cheek
10. X-ray to confirm the position of the tube (green line), if
necessary.
Fig. 38.7: Nasogastric tube
Pitfalls
Indications Basal skull fracturethe tube can enter the cranial cavity
The tube should not be pushed forcibly if there is
For drainage of gastric content, for example intestinal resistance (obstruction) or cough (wrong passage)
obstruction (pre- and post-operative)
The tube may coil in the pharynx (without any resistance)
For feeding in medical and surgical patients when the
and can come out through the mouth!
patient is not allowed or not able to eat/drink through the
mouth. Complications
Contraindications Perforation (especially after thermal/caustic injuries)
Too large size can traumatise the nostril and proximal
Trauma to nose/oro-pharynx/oesophagus/stomach nasal passage
Basal skull fracture
Thermal/caustic injuries to nose/oro-pharynx/oesophagus/ Urinary Catheterisation in the Male and Female
stomach
Urethral catheterisation is a useful procedure in emergency
Oesophageal obstruction/perforation
and elective situations so that hydration status of the
Equipment Required individual can also be ascertained. A sample of urine can be
obtained for urinalysis at the bedside as well for laboratory
Appropriate size sterile gloves investigation. Strict antiseptic and atraumatic procedure
Cleaning agent should be carried out to avoid complications. It is important
Nasogastric tube appropriate size (812CH for children, to explain the procedure to the child and child carers before
6CH feeding tube for preterm starting.
Neonate/babywith green line (if X-ray is required)
Lubricant (e.g. sterile K-Y jelly) Indications
5 ml and 20 ml syringes In an emergency situation, e.g. multi-trauma patients, for
Stethoscope noting hourly urinary output
Litmus paper or pH reaction chart For major operative procedures in bladder, urethra, penis
Adhesive plaster To relieve acute retention of urine
Practical Paediatric Procedures 835
Method (Girls)
1 to 5 (Same as the method of boys mentioned above)
6. Estimate the length of the tube required to be in, from
the tip of urethra to just above the symphysis pubis (Fig.
38.9)
Fig. 38.9: Female urethra
7. As above
8. Clean labia majora, open labia and clean urethral meatus
and labia minora Urinalysis
9 to 15 (Same as the method of boys mentioned above). Bedside chemical analysis of urine can be done using
Always document in the patients notes a procedure note, chemical strips. The manufacturing company indicates the
carefully dated and stating size of catheter and amount of details of when to read the results after dipping the strip in the
water in the balloon, and the residual urine volume. urine and to match the colours against various constituents of
urine.
Complications For bacteriological and other special studies such as
Infection urgent microscopy, the urine sample should be sent to the
Trauma to urethra/external urethral meatus (Fig. 38.10) laboratory immediately, as long standing exposure to the
Bleeding atmosphere may cause contamination.
Blockage of catheter and bypassing of catheter The common reagent strips are used to identify the
Paraphimosis from failure to protract foreskin presence and amount of constituents of urine-protein, pH,
False passage creation and stricture formation. blood, specific gravity, ketone and glucose.
Blood Glucose
A glucose meter (or glucometer) is a medical device for
determining the approximate concentration of glucose in the
blood. A small drop of blood, obtained by pricking the skin
with a lancet, is placed on a disposable test strip that the
meter reads and uses to calculate the blood glucose level.
The meter then displays the level in mg/dl or mmol/L.
The size of the drop of blood needed by different models
varies from 0.3 to 1 ml. Most glucometers today use an
electrochemical method. Test strips contain a capillary that
sucks up a reproducible amount of blood. The glucose in
the blood reacts with an enzyme electrode. The total charge
Fig. 38.11: Analysis of urine using chemical strips passing through the electrode is proportional to the amount
838 Hutchison's Paediatrics
Lancet
Cotton wool
Gloves
Sharps bin
Method
1. Choose injection site; pulp of finger in older children;
heel in younger children and babies
2. Clean site with alcohol swab and allow to dry
3. Apply the spring loaded lance to the site and warn the
patient they will feel a sharp scratch
4. Fire the lancet
5. Express a droplet of blood by squeezing the finger or
heel. Express the droplet onto the test strip and insert into
Fig. 38.12: A selection of glucometers glucometer. Ensure it signals it is analyzing.
6. Apply pressure with cotton wool to the puncture site
7. Apply a dressing if required.
A normal reading is 4 mmol/L or 72 mg/dl. It is widely
accepted; however, that glucometers have a nationally
accepted standard error of 20% and, therefore, if there
is any doubt regarding the reading a serum glucose sample
should be sent.
Hypoglycaemia Hyperglycaemia
Transient neonatal Diabetes mellitustype I and
Fig. 38.13: Pulp of finger and spring loaded lance to the site hypoglycaemia type II
Prolonged fasting Drugse.g. -blockers,
of glucose in the blood that has reacted with the enzyme epinephrine, thiazide diuretics,
(Figs 38.12 and 38.13). corticosteroids
Congenital hypopituitarism Physiological stress
Causes of Hypoglycaemia and Hyperglycaemia Congenital hyperinsulinism, Critical illness
The list of causes of hypoglycaemia and hyperglycaemia are Inborn errors of carbohydrate Infection
extensive; some are listed in the Table 38.2. metabolism
Insulin-induced hypoglycaemia Inflammation
Indications Insulin-injected for type 1
diabetes
Used to monitor glucose level in patient with diabetes
Used to monitor glucose level in patient receiving TPN Munchausen syndrome
Used in emergency to rule out hypoglycaemia Insulin-secreting pancreatic
tumour
Equipment Required Reactive hypoglycaemia and
idiopathic postprandial syndrome
Glucose meter
Addison's disease
Testing strip
Sepsis
Alcohol swab
Practical Paediatric Procedures 839
venous catheterisation is to insert a large bore catheter People with CF have 25 times, the normal amount of
into a large central vein. Strict asepsis during insertion sodium and chloride in their sweat. Generally chloride (sweat
is essential and many centers now utilise a central line chloride) is measured.
bundle approach during central line insertion to improve
adherence to aseptic technique and therefore minimise the The Iontophoretic Method
risk of infection. During the procedure, a needle is placed in This is a convenient method in that only a small area of
the vessel and an internal guide wire inserted into the vein skin is sweated. It may thus be used on patients of all ages
first. This is known as the Seldinger technique. The needle including small infants.
is then removed over the guidewire, the track into the vessel
lumen dilated and the cannula threaded along the wire into Requirements
the lumen. This involves the subclavian or internal jugular
vein. The femoral vein also may be used and preferred by The sweat box unit supplies a small current to the
many. The indications of central venous catheterisation are: appropriate skin area via two terminals.
Measurement of central venous pressure Magnesium sulphate solution, 0.1 N.
Infusion of drugs Aqueous solution of pilocarpine nitrate, 0.2%.
Total parenteral nutrition. Lint, Sleek, polythene sheeting and de-ionized water.
The equipment required for central venous line is A piece of filter paper previously weighed in a container
available in pre-packaged central line sets. These central labelled with the patients name.
venous lines are, as time goes by, increasingly difficult to Forceps
protect from the entry of bacteria, sepsis is likely after 510 A warm room.
days, although careful care and strict asepsis decreases the The childs limbs and trunk are exposed. For each
incidence. However, some paediatric intensive care units terminal a piece of lint is cut slightly broader than the
(PICUs) judge it wise to change all central venous lines terminal: it is folded twice to give thickness and placed on
every 5 days. If the line is needed for long-term therapy (e.g. the terminal. The black lead (negative pole) lint is thoroughly
chemotherapy or TPN) then a subcutaneously tunnelled line damped with magnesium sulphate solution: the lint is placed
should be used. An alternative for intermittent therapy is to on the anterior aspect of the childs thigh and the terminal
place a port with venous access subcutaneously (Portacath). placed over it (i.e. the lint is between skin and terminal) and
Central venous line landmarks: taped firmly in place with a strip of Sleek or other suitable
Femoral veinone fingerbreadth below midpoint of the adhesive.
inguinal ligament just medial to the femoral artery The red lead (positive pole) lint is thoroughly dampened
Internal jugular veinjunction of the sternal and with pilocarpine and applied in a similar manner to the area
clavicular heads of sternocleidomastoid muscle, just of skin which is to be sweated. The scapular area is found to
anterior and lateral to the carotid artery. Aim needle be satisfactory in most cases.The terminal wires are attached
towards ipsilateral nipple. to the appropriate buttons on the sweat box unit and the
unit switched on. The current control is slowly increased
Complications of Central Venous Access until a steady current of between 4 and 5 milliamperes is
reached and this current is maintained for 5 minutes after
These include pneumothorax, haemothorax, hydrothorax, which the unit is switched off and the lint and terminals
air or catheter embolism, and brachial plexus injury. removed. The skin area to which pilocarpine was applied is
Preparations always should be made to treat them and a now thoroughly washed with deionised water and carefully
chest X-ray should be performed after internal jugular or dried. The weighed filter paper is removed from its container
subclavian line insertion. Cervical haematomas are common, with forceps and placed on the skin area: a piece of polythene
and although bleeding is usually trivial, it can produce sheet, slightly larger than the filter paper is placed over it
occlusion of the airway. The biggest risk however is that of and taped firmly in place with Sleek which should seal the
central line infection which usually mandates removal of the edges of the polythene to prevent leakage. It is useful to
line. apply the Sleek in four strips leaving a window in the centre
of the polythene. The child may now be dressed and may
The Sweat Test resume his ordinary ward activities. The polythene window
(Chloride Sweat Test, Cystic Fibrosis Sweat Test) is examined 30 minutes laterif sufficient sweat has been
Analysis of sodium and chloride content of sweat is indicated collected then the filter paper becomes almost transparent, if
in the diagnosis of cystic fibrosis (CF). Normally, sweat on this is not apparent it is worth leaving the paper in situ for a
the skin surface contains very little sodium and chloride. further 30 minutes.
840 Hutchison's Paediatrics
The polythene and Sleek are then removedthe paper briskly with a sterile lancet and blood collected in heparinised
carefully placed in its weighed container using forceps and glass capillary tubes whose ends are sealed with plasticine.
sent to the laboratory for analysis together with a control The analysis for PO2 should be made within 15 minutes of
piece of filter paper. The minimum weight of sweat required sampling.
for electrolyte analysis by this method is 100 mg. When the
current is being applied the child may experience a tingling Haematological Procedures
sensation but provided no more than 5 milliamperes is used
this should not be uncomfortable. Sometimes the area of skin Precautions in Patients with
under the terminals becomes reddened or may even show Haematological Disorders
an urticarial eruption but this will readily settle. The only To patients with haemophilia or leukaemia their veins are
complication we have experienced with this method has been their lifelines. Venepuncture should be kept to a minimum
a small skin burn due to careless application of a terminal and laboratories dealing with children should be geared to
which touched the skin. This is avoided if the lint is of larger perform their tests upon capillary samples of blood unless
area than the terminal, but even so care should be taken with this is not practicable. When venepunctures are unavoidable
a wriggling child lest the terminal slip during this stage of the (usually due to the need for therapy or for transfusion) it
procedure. is best not to use the antecubital fossae since extravasation
of blood or infused drug can easily occur undetected.
Key Learning Point
Perivenous haematoma are a potent source of infection and
Chloride sweat test of great hazard in either leukaemia or haemophilia. The
Sweat chloride concentration greater than 60 mmol/kg is veins on the back of the hand (or foot) can be used with
diagnostic of CF. far less chance of undetected extravasation during injection
and easier control of haemostasis by subsequent application
Radial Artery Puncture of pressure using sterile cotton wool. Scalp veins provide
similar access in infants but tests using capillary samples are
The skin is cleansed in the usual manner. A suitable size
particularly important for this age group.
needle (gauge 21 usually) is attached firmly to a syringe
and the dead space filled with heparin. The infants hand is Key Learning Points
supinated and held so that hand and forearm are straight, i.e.
In absolutely no circumstances should any intramuscular
no wrist flexion or extension. The needle is inserted through
injection be given to a child with haemophilia or Christmas
the proximal wrist skin crease over the radial pulsation and at
disease.
an angle of about 60 degrees to the skinit is pushed thence
Likewise, no intramuscular injections should be given to
till it just touches the radius whence with slight negative
children who are grossly thrombocytopenic or are receiving
pressure on the syringe it is slowly withdrawn along its line
heparin therapy.
of entry, withdrawal ceasing when blood is obtained. After
arterial puncture the syringe is sealed, e.g. with a syringe
cap or portion of plasticine. An assistant maintains firm and Marrow Aspiration
unvarying pressure on the puncture site for 5 minutes or till It is convenient to perform the whole procedure 15 minutes
unvarying pressure on the puncture site for 5 minutes or after the patient has been sedated. With the patient in the
till all bleeding has ceased. In the older child a small dose LP position the posterior superior iliac spine located at the
of local anaesthetic may be injected at the site of puncture lower end of the crest. It is helpful to mark the line of the
before the procedure is performed. crest with the iodine used as a skin antiseptic. With the crest
grasped between thumb and forefinger the skin, subcutaneous
Arterialised Capillary Blood tissue and periosteum is infiltrated with 2 ml of 1% xylocaine
A satisfactory alternative to arterial puncture is the use of (or equivalent) at a point 1 cm above the spine in young
arterialised capillary blood. It has the advantage that blood children and 2 cm above it in older children using a fine
is always obtained and that sampling may be freely repeated needle. During infiltration move the point of the needle a few
as often as required. In the infant the heel is the best site millimetres first one way and then the other across the surface
to prepare; in the older child the ear lobe or digital pulp of the crest so as to define the exact limits of its subcutaneous
is used. The skin is cleaned in standard fashion. If the site surface. Allow 2 minutes for the local anaesthetic to become
is flushed and warm no further preparation may be needed. effective and then using strict aseptic technique push a
Squeezing the site is obviously contraindicated in obtaining marrow puncture needle and trocar of relatively wide bore
samples for PO2. Following preparation the skin is incised (1.5 mm) through the skin with a rotating action down to
Practical Paediatric Procedures 841
the periosteum and locate the most central subcutaneous avoid damaging the epiphysis in the region of the tibial
portion of the crest. The needle and trocar are then directed tubercle since a disturbance of bone growth could occur in
in a strictly anterior direction (in all planes) and pressed later life. The subcutaneous antero-medial surface of the tibia
into the bone with an alternate clockwise and anticlockwise is palpated and the tibial tubercle identified. A site in the
boring action with a firm movement. As soon as the needle middle of the subcutaneous surface 2.5 cm (1 inch) below the
is sufficiently inserted into the bone to remain fixed by itself tubercle is chosen. A needle with a guard is used to puncture
without support the trocar is briskly withdrawn. A fleck of the skin and then the bone with a boring motion keeping
pink marrow may be seen on the tip of the trocar confirming the needle strictly at right angles to the subcutaneous surface
that the needle is within the marrow cavity. Strong suction of the bone. When the needle point touches the periosteum
is then applied with a 20 ml sterile syringe and stopped after before entering the bone the guard is adjusted to allow
about 0.2 ml of blood (and marrow) enters the syringe. If bone penetration to a depth of 23 mm. In other respects
nothing can be aspirated the trocar is replaced, the needle the procedure is as described for the posterior iliac crest
advanced a further 12 mm and aspiration repeated. If still puncture.
unsuccessful the procedure is repeated 12 mm on either side
of the original position. After obtaining aspirate the trocar Stains in Common Use
is replaced and the needle withdrawn covering the puncture In the side room or laboratory, which should be attached
site with a sterile dressing. The aspirate is expelled in equal to every ward, a number of simple stains should always be
amounts on to 810 microscope slides in succession and the available and should be kept fresh. These would certainly
surplus fluid blood is sucked back into the syringe. Smears include methylene blue, carbol fuchsin and Grams stain.
are made of the sedimented marrow cells and particles and
the slides waved in the air to achieve rapid drying. The Methylene Blue Stain (0.5% Aqueous Solution)
remaining iodine is removed from the skin with surgical
Methylene blue films can be made so rapidly that it is
spirit and a sterile adhesive and occlusive dressing placed
surprising that this procedure is not used freely and widely.
over the puncture site.
Scrapings of the buccal mucosa (for thrush), a faecal smear
Key Learning Point (for deposit of polymorphs seen in bacterial dysentery), or
a single loop-full of the centrifuged deposit of CSF from a
Marrow aspiration
case of suspected meningitis (for bacteria and leucocytes)
Marrow puncture is contraindicated in haemophilia or
may be applied thinly to the slide and to dry and then fix
Christmas disease but is safe in the presence of even severe
by passing three times through a Bunsen flame. The slide
thrombocytopenia, when care is taken to ensure continued
is then stained with methylene blue for 1 minute, washed in
firm pressure after the procedure.
water, dried and examined under oil immersion. The whole
procedure need takes no more than 5 minutes. The ease with
Marrow Trephine which the candida and mycelia of moniliasis or bacteria such
This is performed at the site as above in children aged more as the coccobacilli of Haemophilus influenzae meningitis may
than 1 year. A Gardner bone marrow trephine needle and be seen, lends strong support to the routine use of methylene
trocar used. The trocar locates the bone and the saw-toothed blue film.
needle is then rotated down to the surface of the bone and
thereafter rotated in one direction with steady pressure. Carbol Fuchsin Stain
As the needle cuts into the bone the head of the trocar is Dilute carbol fuchsin (10% aqueous solution of concentrated
gradually pushed back out of the needle helping to indicate carbol fuchsin, see Ziehl-Neelsen method below) is used in
the depth to which the needle has penetrated. When this is a similar fashion to methylene blue as described above. In
thought to be 5 mm a syringe is attached so as to exert gentle a suitably purpuric fevered child a smear of juice from a
suction while the needle is withdrawn, after which a slender purpuric blob pricked with a needle, or the buffy layer of
cylinder of bone and adjacent marrow can be extruded from cells on centrifugation of blood may be stained after fixation
the needle into a suitable histological fixative such as used in to show diplococci of the Neisseria meningitides type with
the local laboratory. a duplex rather than lanceolate (pneumococcal) appearance.
This immediately suggests meningococcal septicaemia and
Tibial Puncture mandates parenteral antimicrobial treatment whilst Grams
This site is used for marrow puncture in preference to the stains, culture and other procedures continue.
iliac crest for an average child up to 6 weeks or in very Ziehl-Neelsen method: Concentrated carbol fuchsin (1 g
small babies up to the age of 3 months. It is important to basic fuchsin in 10 ml absolute alcohol made up with 100 ml,
842 Hutchison's Paediatrics
Grams Stain
There are many modifications of this staining procedure.
Advice on the staining technique should be obtained locally
and the necessary solutions made available in the ward test
room.
1. Stain with methyl violet 6B or crystal violet (0.5% in
distilled water) for 30 seconds. This solution of stain
should be filtered immediately before use. Fig. 38.15: Cerebrospinal fluid with pus cells and E. coli
2. Pour off excess of stain, hold the slide on a slope and
wash away excess stain with Grams iodine (1 g iodine, Central Nervous System
2 g potassium iodine and 300 ml distilled water).
3. Wash iodine off with absolute alcohol and repeat until Transillumination
colour ceases to come out of the preparation. This simple and safe method of examination of the infant head
4. The slide is washed with water for 1 minute. is too often neglected. A case can be made for its routine use in
5. Apply a suitable counter stain such as dilute carbol the neurological examination of an infant during the first year
fuchsin (10% aqueous solution) for 12 minutes. of life, and in selected cases at later age. Careful technique is
This stain is particularly important in dealing with CSF. essential. The infant is taken into a totally blacked-out room.
The gram positive lanceolate and encapsulated diplococcic The examiner uses a strong torch fitted with a black rubber
of Streptococcus pneumoniae (pneumococcus) are sharply adapter which prevents the escape of stray light when it is
differentiated from the duplex pattern of gram negative pressed against a flat or convex surface. He begins by testing
N. meningitidis. The most awkward problem is with his own dark adaption by attempting to transilluminate the
Haemophilus influenzae which is gram negative and palm of his hand. The infants head is then systematically
pleomorphic and gram negative rods of E. coli (Figs 38.14 explored by switching on the torch when it is pressed against
and 38.15). the frontal, central and occipital regions on each side, and
However, polymerase chain reaction (PCR) is an also in the midline posteriorly over the posterior fossa.
emerging technology that is based on the ability to detect Normally there is a narrow rim of transillumination around
DNA of pathogens, living or dead. The advantages of PCR the adapter, the precise diameter of which depends on the
testing include rapidly available results, often within hours, characteristics of the light employed. The rim is greater in the
and the detection of organisms even if they have been killed frontal regions, and is inversely related to age. Abnormalities
by prior antimicrobial administration. include generalised transillumination in hydranencephaly or
Practical Paediatric Procedures 843
aqueduct stenosis, unilateral increases in subdural effusion prove inadequate. After skin preparation (2% iodine in 70%
or porencephaly, posterior fossa glow in the Dandy-Walker ethanol is effective) local anaesthetic such as 1% lignocaine
syndrome or some arachnoid cysts, and multiple illuminated may be infiltrated at the chosen site between the second and
regions in cystic encephalomalacia (Fig. 38.16). Suspected third lumbar spines. This level is approximately indicated
abnormalities may sometimes be more precisely defined by by a line joining the superior iliac crests. Many omit the
directing the light serially through them from more than local anaesthetic for rapid punctures not involving pressure
one direction. The findings could be confirmed by cranial measurements. A short fine LP needle with a stillete (for
ultrasound. instance, a No. 22 needle which has a very short bevel) is
pushed through the skin and then slowly advanced anteriorly
Lumbar Puncture (Spinal-Tap) and very slightly cephalad with a slight rotator motion until
This is most commonly carried out to determine whether a barely felt click sensed through the tips of the index finger
meningitis is present. The technique is easier for the operator and thumb signals the penetration of the ligamentum flavum
and much to be for the child if sedation is used sufficient to and dura mater. In small children the first appearance of CSF
induce amnesia. Most operators prefer the lateral decubitus is less likely to be missed if the stillete is withdrawn after
position, with the childs knees held in a flexed position near the skin has been punctured and reinserted briefly from time
his face (Fig. 38.17). It is wise to ensure that an experienced to time with each small movement deeper. Otherwise the
assistant is able to hold a flexed infant firmly immobile narrow subarachnoid space may be crossed unwittingly, the
before beginning the LP proper otherwise struggling may anterior plexus of veins transfixed, and a bloody tap result.
spoil the procedure at a critical moment should the sedation The use of a small (No. 23) butterfly scalp vein needle with
its attached tubing has been advocated for LP in the newborn
to reduce the chance of such a bloody tap but there is a
small risk of implantation spinal epidermoid tumours and
leading to paraparesis some years later if a needle without a
stillete is used to penetrate the skin.
Equipment Required
Spinal or LP tray (including the items listed below)
Sterile gloves
Antiseptic solution with skin swabs
Sterile draps
Lidocaine 1% without epinephrine
Syringe 5 ml and 10 ml
Needles 20 gauge and 25 gauge
Fig. 38.16: Positive transillumination in an infant with Spinal needles 20 gauge and 22 gauge
hydranencephaly. The entire head lights up in hydranencephaly 3-way stopcock
Procedure
The procedure is as follows:
Cleanse the suprapubic area with betadine (povidone-
Fig. 38.18: Xanthochromic subdural fluid from an infant who had
iodine)
subdural haemorrhage Locate the pubic bone
Insert a one inch 22 gauge needle attached to a 5 ml
is commonly some seepage of CSF under the scalp and so syringe at midline, angling the needle 1020 degrees
transillumination becomes falsely positive. cephalad and pushing it through the skin under negative
pressure at all times
Ventricular Puncture
Entry into the bladder is indicated by return of urine.
This procedure is used to obtain CSF in suspected ventriculitis
when the lumbar route cannot be used, to introduce air for Complications
ventriculography and for emergency decompression when the Although complications are rare but include haematuria,
intracranial pressure is dangerously high due to obstruction anterior abdominal wall abscess and bowel puncture.
to outflow from the ventricular system. While it may be life- Peritonitis is uncommon.
saving in the latter situation, it should not be thought of as
harmless. If the ventricular pressure becomes or remains Percutaneous Renal Biopsy
high after the procedure, cystic expansion may occur along
the needle track with associated brain atrophy. Porencephaly Procedure and Complications
may result. Induced bleeding into the ventricular system Percutaneous renal biopsy has been commonly used since
is sometimes fatal; on other occasions the intraventricular 1954. It is tricky and requires deft fingers. It should not be
haematoma can be demonstrated by contrast radiography or undertaken without instruction from an expert paediatric
cranial CT. Such remarks serve as a reminder that ventricular nephrologist. It is usually performed under general
puncture is ideally a neurosurgical procedure and should not anaesthetic. Two specimens containing cortical tissue are
be used lightly. generally required to obtain adequate material for light: (1)
Commonly the right lateral ventricle is chosen for immunofluroscence and (2) electron microscopy.
entry to avoid damage to the presumptive speech-dominant Prior to renal biopsy the following investigations are
hemisphere. The head is prepared as for subdural tap, advised:
but after the same valvular approach through the skin at Check haemoglobin level, platelet count and coagulation
the same site the needle is advanced at right angles to the screen
tangent of the skull at its point of entry. A fine LP needle Real-time ultrasound control is optimal
with stilette is commonly used although neurosurgeons Ensure, adequate monitoring of the patient, including
would prefer a method employing the use of a proper brain continuous pulse oximeter, recording during and
needle. It is likely that CSF will be reached at a depth of 3 following procedure
cm or less, for unless the ventricle is dilated the procedure is Biopsy is usually done with sedation and under a local
seldom indicated or indeed likely of success. It is not usually anaesthetic, but in some cases it may be performed under
possible to detect by feel the entry of the needle into the a general anaesthetic
846 Hutchison's Paediatrics
Ensure sedation and analgesia has adequate time to take Respiratory System
effect prior to commencing procedure
Ensure EMLA cream is applied to the biopsy site at least Pleural Aspiration
90 minutes prior to the procedure Aspiration of a pleural effusion may be indicated for diagnostic
The kidneys lie on either side of the spine just below the or therapeutic reasons. It is an unpleasant procedure and in
muscles of the back. The technique involves inserting most instances the child should be sedated. In all instances
a needle down through the back muscles and into the local anaesthesia should be used. The infant or child should
kidney (usually the left), and the removal of some very preferably be seated on a firm surface sitting upright with his
small pieces of kidney arms placed forward over pillows. Sufficient pillows should
An ultrasound scanning machine is used during procedure be employed to make his back as nearly perpendicular as
to ensure the correct positioning of the needle possible. Standard aseptic technique is employed. The
Ensure adequate resuscitation equipment is readily optimal site can be identified by US.
available When the effusion is large the site of entry is in the
Aim to biopsy the lower pole of left kidney (unless sixth intercostals space in the scapular line. When the
contraindicated); ensure biopsy is away from vessels effusion is localised, as indicated by clinical and radiological
Position patient prone (supine for transplanted kidney) examination, the site of entry is best made over the area of
Generally use 16G needles (18G for transplant biopsies) maximum dullness on percussion.
Following procedure monitor vital signs. A large bore needle or suitably sized trocar (1218 gauge:
After the biopsy the blood pressure and pulse rate are 7.5 cm length) is employed: if thick pus is expected then a
monitored closely, the urine is tested, and the patient is kept wide bore instrument is essential. A bone-marrow aspiration
in bed for at least 6 hours. There may occasionally also be needle may be very useful in tapping a thick empyema. A
some bleeding around the kidney or blood in the urine. Once suitable size syringe and 2-way tap is attached to the needle
fully awake after the renal biopsy, the patient is encouraged before the skin puncturea length of plastic tubing should
to drink fluids to help flush away blood from the kidney. lead from the side arm of the tap to a receptacle for collecting
Vigorous activity is discouraged for 1 week after the biopsy. the aspirate. Sterile containers for bacteriological specimens
should be to hand.
Similar procedure is carried out to biopsy a transplanted
The needle is inserted in the sixth intercostal space just
kidney.
above the seventh rib and slowly advanced in a forward
When it is considered that percutaneous renal biopsy
and slightly medial direction. If slight negative pressure
involves, an undue risk, an open surgical renal biopsy can
is maintained on the syringe then fluid will be drawn off
be considered. This technique always provides an adequate
as soon as the effusion is entered. If much fluid is to be
specimen of the renal cortex.
withdrawn, aspiration should be performed fairly slowly.
Antibiotics may be instilled if indicated at completion of
Renal Biopsy
aspiration before the needle is withdrawn. The site of the
Indications puncture may be covered with a sterile swab to avoid leakage
from the wound. Repeated aspiration may be performed in
Atypical nephrotic syndrome this manner though it is best not to use precisely the same
Persistent hypocomplementaemia and nephritis puncture wound each time.
Acute nephritis not resolved in 1 month If drainage of a tension pneumothorax is required then
Anaphylactoid nephritis not resolved in 1 month the tense gas should be released slowly through polyvinyl
Persistent undiagnosed haematuria tubing which is left in situ and connected with an underwater
Persistent undiagnosed proteinuria seal drain. Care should be taken to ensure that no fluid can
Persistent undiagnosed renal failure. return through the tubing into the chest by positioning the
bottle well below the level of the patient.
Contraindications
May be as follows, none absolute in a desperate situation: Bronchoscopy
Single kidney Bronchoscopy may be an elective or an emergency
Hydronephrosis procedure. Flexible bronchoscopy is used for diagnostic
Systemic hypertension purposes and obtaining broncho-alveolar samples. Removal
Uraemia of foreign bodies requires rigid bronchoscopy. In either
Haemorrhagic diathesis. case it is performed under general anaesthetic with the use
Practical Paediatric Procedures 847
of a short-term muscle-relaxing agent. Prior to the elective blocked by gauze swab to encourage oral and nasal breathing
procedure the patient should not be given anything to eat and then closed completely, but intermittently, for short
or drink for a period of at least 4 hours. In the emergency periods. Once the tube may be dispensed with the neck
situation, the stomach contents should be removed as far as wound is covered with sterile dressings until healing has
possible by aspiration through a wide-bore nasogastric tube occurred.
before anaesthesia is required.
A bronchoscope of a size suitable for the child is chosen. Key Learning Point
Following induction of anaesthesia the bronchoscope is Tracheostomy
inserted, with the patients neck and head fully extended. The In gross emergency before formal tracheostomy is performed,
maintenance of respiration during the procedure is usually insertion of a wide-bore short bevel needle into the trachea
constant or intermittent via the side arm of the bronchoscope. may be life-saving.
Suction may be used to extract suitable foreign bodies such
as a disintegrating peanut but expertise is required for even Indications of tracheostomy are given in Box 38.1.
this moderately simple manoeuvre and certainly for any
more complex. Box 38.1: Tracheostomy indications
Upper airway obstruction
Tracheostomy Angioneurotic oedema, anaphylaxis (if conventional airway
Tracheostomy may be either an elective or an emergency management has failed)
Prolonged endotracheal tube requirement
procedure. It should be performed under general anaesthesia Vocal cord paralysis
in an operating theatre if possible but in the emergency Choanal atresia
situation an asphyxiated patient who is unconscious and Subglottic stenosis
Assisted ventilation and pulmonary toilet
deeply cyanosed does not require the former and usually And others.
cannot wait for the latter.
The trachea is intubated with the patients neck fully Laryngoscopy
extended. The cartilages of the third and fourth tracheal rings
are located by palpation and a midline vertical incision is This manoeuvre may be required for viewing the larynx
made through them. A tracheostomy tube of suitable size directly, e.g. as a diagnostic procedure or for removing
for the patient (it should fit snugly but not tightly to avoid foreign material and is an integral part of endotracheal
pressure necrosis of the tracheal mucosa) is selected and intubation. General anaesthesia is required in all cases except
inserted. The tracheostomy tube is fixed firmly but not tightly the cardiac arrest situation.
in place by the use of tapes attached to its lateral flanges and
tied around the neck. Maintenance care of the tracheostomy
Requirements
must be constant to keep it clear. Initially the patient should A functioning laryngoscope with a blade straight or
be observed for evidence of complications consequent to the curved as appropriate to the patients size
procedure, e.g. haemorrhage or pneumothorax. Throughout A well-lit room
its period of use in the emergency situation care must be Full monitoring.
taken, that bronchial secretions do not dry within and The patient is laid supine on a firm flat surface. The
therefore block the tube. This is avoided by ensuring high operator positions himself at the patients head with his eyes
humidity of inspired air. level with the head. The patients neck is fully extended. The
The trachea and bronchi should be aspirated of secretions laryngoscope handle is grasped dagger fashion and the blade
at frequent regular intervals with sterile techniqueit may be inserted along the side of the mouth and pushed back to the
helpful to instil 12 ml warm sterile saline into the tube prior root of the tongue: it is then positioned centrally so that its
to aspiration if secretions are particularly viscid. The skin point is towards the oesophagus and the tongue is held firmly
around the tracheostomy wound should be carefully cleansed beneath the blade. By pronating the hand holding the handle
and dressed (with sterile gauze swab or sterile vaseline of the laryngoscope the point of the blade is made to pass
gauze) to avoid its becoming infected. anteriorly and the operator views the oesophageal orifice
The decision to remove the tracheostomy tube permanently and then the larynx. Gentle elevation of the tip of the blade
depends on a number of factors including the reason for its allows the point to slip between the epiglottis and the root of
initial insertion and the patients ability to maintain adequate the tongue. By lifting the laryncgoscope forward an adequate
ventilation without it. The orifice of the tube may be partially view of the larynx is now obtained.
848 Hutchison's Paediatrics
The capsule is placed on the back of the tongue and if Also there are no specific endoscopic features of H. pylori
the child sits upright, it can be swallowed without any infection. Histological assessment of an endoscopic antral
difficulty. biopsy is reliable means of detecting H. pylori, but requires
The length of tubing required to allow the capsule to expertise and the result is not immediately available. Culture
enter the gastric antrum should be estimated and marked. of endoscopic biopsies is equally sensitive and specific but
When this is achieved, the gastric peristalsis is encouraged suffers similar drawbacks.
by gently injecting air down the apparatus while the child
lies in the right lateral position. Key Learning Points
The efflux of bile-stained fluid indicates the entry of the Urea breath test
capsule into the duodenum. Proton-pump inhibitors should be stopped 2 weeks before the
At this stage the child is turned into the supine position test.
and asked to swallow another foot of tubing. H2 receptor antagonists should not be taken on the day of the
At the end of 3 hours the position of the capsule must be test.
confirmed radiologically. Antibiotics should have been stopped for at least 4 weeks.
When the capsule has reached the jejunum it can then be
fired by applying forceful suction from a 20 ml syringe Twenty-Four Hour Oesophageal pH
to ensure the knife is released. Monitoring (Regurgitation, Gastro-Oesophageal
The capsule is withdrawn and opened. The tissue obtained Reflux, Gastro-Oesophageal Reflux Disease)
is then fixed in formol saline and sent for microscopical
examination. Gastro-oesophageal reflux (GOR) is a very common
occurrence in children but its clinical importance varies
Key Learning Point vastly upon the age of the child. It is worth remembering
that the terminology, e.g. regurgitation, GOR and gastro-
Jejunal biopsy
oesophageal reflux disease (GORD) can easily be confused
The small bowel biopsy specimen is diagnostic of coeliac
disease and is regarded as the gold standard although errors
in paediatric practice. Regurgitation of gastric contents
occur especially with poorly orientated specimens.
into oesophageal lumen is much more frequent in infants
and most likely a physiologic event and largely self limited
in the majority. Interestingly reflux of gastric contents
Urea Breath Test (Helicobacter Pylori Infections) in the oesophagus is almost always acidic in adults, but it
The urea breath test is a non-invasive test used to detect the is frequently not the case in young children, infants and
presence of H. pylori in the stomach, and is the simplest particularly in premature infants. On the contrary, GORD
way to confirm eradication of infection after treatment. refers to pathologically frequent or severe acidic gastric
The test is based on the capacity of H. pylori to secrete reflux associated with mucosal damage and/or symptoms and
the enzyme urease, which hydrolyses urea to ammonia and complications. Therefore, it is important to identify children
carbon dioxide. When a dose of urea labelled with a non- with significant GOR and to treat them as GORD.
radioactive isotope of carbon (13C) is taken by mouth, the
label appears in breath carbon dioxide if the child has gastric
Procedure
H. pylori colonisation. The accuracy of the urea breath test Although the test can be carried out at home, but some infants
may be reduced if the child is currently receiving or has and children may need to remain in the hospital for the test.
recently completed treatment with antibiotics, proton-pump Some drugs (e.g. antacids, corticosteroids, H2 blockers,
inhibitors, or H2 receptor antagonists. proton-pump inhibitors) may change the test results. So they
The abundance of 13C in breath CO2 is measured by have to be stopped 24 hours to weeks before the test.
continuous-flow isotope ratio mass spectrometry [20-20
Automated Breath 13Carbon Analyser (ABCA), Sercon, Key Learning Point
Crewe, UK] against international standards. The enrichment 24-hour oesophageal pH-metry has been one of the main
of the post-dose sample is calculated by subtracting the diagnostic tools used for the diagnosis of GORD. The test
abundance of the baseline sample from that of the post-dose measures how often and for how long stomach acid enters
sample. the lumen of the oesophagus.
A test is considered positive if the enrichment of the post-
dose sample is greater than or equal to 40 parts per million
13
C ( 40 ppm 13C excess) and delta above baseline ( 3.5 A thin tube with a probe is passed through the nose into
ppm 13C excess). the stomach. Then it is pulled up into the oesophagus. The
Practical Paediatric Procedures 851
tube is attached to a monitor that measures the level of acidity hours and it is safe to commence feeding 4 hours after tube
in the oesophagus. insertion. The main contraindications are severe obesity,
The parents of the child will keep a note of the symptoms portal hypertension and coagulation abnormalities.
over the next 24 hours. The next day the tube will be removed. Complications of PEG are given in Box 38.2.
The information from the monitor will be compared with
Box 38.2: Complications of PEG
symptoms record kept.
Acid reflux is defined whenever the pH in the oesophagus Skin problems due to leakage from the gastrostomy site
drops to 4 or less. The tracing is read by counting the number Pneumoperitoneum and subcutaneous emphysema
Peritonitis (rare)
of reflux episodes and measuring the duration of each reflux Gastrointestinal haemorrhage (rare)
episode in minutes (Figs 38.19 and 38.20). Gastric outlet obstruction and/or duodenal obstruction
Tube occulusion (frequent)
Percutaneous Endoscopic Gastrostomy GOR (during gastostomy feedings)
Fig. 38.19: Tracing of oesophageal pH monitoring of a child over one year old % < pH4>5%. Showing significant GOR, i.e. GORD
852 Hutchison's Paediatrics
Mantoux Test
Tuberculin skin tests are, of all tests, the most useful in the
diagnosis of primary tuberculosis. In the Mantoux testthe
diagnostic is given by intradermal injection of tuberculin
purified protein derivative (human PPD). For routine
Mantoux test 2 units (0.1 ml of 20 units/ml strength) is
administered to the left forearm, preferably at the junction
of middle and at lower third of the volar aspect. It should
produce a bleb raised about 7 mm in diameter, which usually
disappears within an hour. If first test is negative and a further
test is considered appropriate 10 units (0.1 ml of 100 units/
ml strength) should be administered. Mantoux test should be
read at 4872 hours and measure the diameter of induration
(not erythema) in millimetres (Fig. 38.21).
Fig. 38.21: A positive Mantoux test with human PPD
Interpretation of Mantoux test is given in Box 38.3.
Fig. 38.22: A positive Mantoux test with avian PPD Equipment Required
Vials of commercially produced allergen extracts or
Avian PPD (Non-Tuberculous Mycobacteria
whole food
Intradermal Test) Positive and negative control skin prick testing solutions
Lymphadenitis is the most common manifestation of non- Individual sterile prick testing lancets
tuberculous mycobacteria (NTM) infection in children aged A roll of transparent tape
less than 12 years (peak age 24 years). Adenitis due to Skin marker pen
NTM is usually unilateral and involves the submandibular Measuring gauge
nodes or anterior superior cervical nodes. The pulmonary Timer
infection with NTM is rare in children. Anaphylaxis medication.
With high index of suspicion that a child could have
Skin Prick Testing Procedure
NTM infection, an avian PPD intradermal (Mantoux method
test should be done). It will show a much higher sensitivity The cubital fossa or the childs back is the site of choice for
to the avian PPD than to the human PPD, and the reaction skin prick testing. Babies and toddlers tend to have the back
would be larger to the avian PPD than the human antigen used whereas older children tend to prefer it on the cubital
(Fig. 38.22). fossa. A skin marking pen is used to mark allergen sites.
Positive and negative controls are used on opposite sides of
Key Learning Points the test site. Allergens should be placed at least 3 cm apart.
Response to tuberculin may be suppressed by live
One drop of allergen is placed on the appropriately
viral vaccine, viral infection, corticosteroid therapy or
marked area of the skin using the applicator.
immunosuppression due to disease or treatment.
A sterile lancet is held at a 90 degree angle to the skin
False negatives may be found in miliary tuberculosis or in
and pressed through the skin without drawing blood. The
newborns.
excess solution is then removed with cotton wool or tissue
Incorrect storage of PPD, incorrect administration or incorrect
from the skin site test. The above steps are repeated for
reading will affect the result.
each allergen. This is left for 15 minutes. After 15 minutes
from application the site is examined for weals. Outlines
of any weal are drawn round with the skin marker pen.
Polymerase chain reaction may have a useful but limited Any flare that has occurred is disregarded. The tape is then
role in evaluating children with tuberculosis. A negative PCR placed over the pen marked weal to obtain an imprint and
never eliminates tuberculosis as a diagnostic possibility, and then removed and placed on the skin prick testing result
a positive result does not confirm it. sheet. This will have transferred the size of weal to the
854 Hutchison's Paediatrics
result sheet. The diameter of the weal is measured with biopsy. In such a situation it should not be undertaken merely
a ruler giving the diameter in millimetres. The skin is to confirm what is already known.
then washed around the site of the skin prick testing. The For practical purposes, most muscle biopsies are taken
child is observed for a further 15 minutes. The results are from quadriceps or deltoid as they are usually involved in
interpreted and the appropriate advice and treatment plan myopathies. It is vital to avoid artefact in the muscle biopsy,
devised. e.g. sites of injection or EMG needle insertion. An open
However, scratch, prick or puncture tests should be biopsy can be obtained through a skin incision under local
employed with caution. Because, large local skin test anaesthesia. It is recommended to take two pieces of muscle:
reactions correlate well with clinical sensitivity while (1) one for electron microscopy and (2) the other for histology
small skin test reactions correlate poorly but may be used and histochemistry.
as a starting point for elimination and challenge to determine Needle biopsies of muscle can also be used for the
whether clinical sensitivity to food exists. Also the clinical diagnosis of muscle disease and are particularly useful for
significance of skin test reactions varies significantly to follow-up biopsies to monitor the prognosis of treatment.
specific food tested. Delayed-onset food sensitivities, i.e.
reactions that occur hours to days after food ingestion, ACKNOWLEDGEMENTS
seldom are identified by skin testing because majority do not We are grateful to Churchill Livingston Elseveir, for
appear to be IgE mediated. permission to reproduce some material from the Textbook
of Paediatrics, Edited by John O Forfar and Gavin C Arneil,
Muscle Biopsy
volume 2, chapter 38, Practical Procedures by WB Doig,
Muscle biopsy is an invasive technique and both paediatrician Anna V Murphy and GC Arneil, 1978.
and pathologist must be quite clear that there are questions The authors also acknowledge their thanks to Mrs Pamela
that need to be answered for the diagnosis and management Joannidis, Miss M Steven, Dr B El-Nabulsi, Dr N Doraiswamy,
of the patient and indeed that those questions can be answered Mr B Amjad for their contributions to this chapter.
by a biopsy before the muscle biopsy procedure is carried The authors are grateful to ADAM Surgical, Sialkot,
out. Therefore, when indicated the muscle biopsy provides Pakistan, for providing images of suturing.
the final confirmation of a diagnosis on which treatment
can be based, prognosis explained and genetic counselling BIBLIOGRAPHY
offered. In some cases however the diagnosis may be quite 1. Safe sedation of children undergoing diagnostic and therapeutic
clear from the clinical presentation and the history with no procedures. A national clinical guideline. Guideline 58.
further, useful information is likely to be obtained from a Scottish Intercollegiate Guideline Network. May 2004.
Appendices
APPENDIX B: A guide to normal ranges for the FBC in infancy and childhood
Age Haemoglobin Hct MCV WBC Neutrophils Lymphocytes Monocytes Eosinophils Basophils Platelets
9 9 9
(g/dl) (fl) (10 /l) (10 /l) (10 /l) (x109/l) (x109/l) (x109/l) (x109/l)
Birth (term) 14.923.7 0.47 100 1026 2.714.4 2.07.3 01.9 00.85 00.1 150450
075 125
2 weeks 13.419.8 0.41 88110 621 1.55.4 2.89.1 0.11.7 00.85 00.1 170500
0.65
2 months 9.413.0 0.28 8498 515 0.74.8 3.310.3 0.41.2 0.050.9 0.02 210650
0.42 0.13
6 months 10.013.0 0.3 7384 617 16 3.311.5 0.21.3 0.11.1 0.02 210560
0.38 0.2
1 year 10.113.0 0.3 7082 616 18 3.410.5 0.20.9 0.050.9 0.02 200550
0.38 0.13
26 years 11.013.8 0.32 7287 617 1.58.5 1.88.4 0.151.3 0.051.1 0.02 210490
0.4 0.12
612 years 11.114.7 0.32 7690 4.5 1.58.0 1.55.0 0.151.3 0.051.0 0.02 170450
0.43 14.5 0.12
1218 years 0.35 0.02
12.115.1 7794 4.513 1.56 1.54.5 0.151.3 0.050.8 180430
Female 0.44 0.12
Male 12.116.6 0.35 7792
0.49
Reproduced with permission from: Simpson P, Hincliffe R/Arcei R, Hann I, Smith O. Table of normal ranges and blood counts from birth to 18
years; Paediatric Haematology, Blackwell Publishing, 2006.
858 Hutchison's Paediatrics
(a) (b)
(a) Nomogram representing the relationship between height, weight and body surface area in infants. (After Haycock, et al.
Geometric method for measuring body surface area: A height-weight formula validated in infants, children and adults.
J Pediatrics 1978;93:6465).
(b) Nomogram representing the relationship between height, weight and body surface area in children and adults. (After
Haycock, et al. Geometric method for measuring body surface area: A height-weight formula validated in infants,
children and adults, J Pediatrics 1978;93:6465 (The editors and publisher gratefully acknowledge to reproduce the
nomograms in this book).
Appendices 859
The 90th percentile is 1.28 SD, the 95th percentile is 1.645 SD, and the 99th percentile is 2.326 SD over the mean. For research purposes, the SDs in Table
B1 allow one to compute BP Zscores and percentiles for boys with height percentiles given in Table 3 (i.e. the 5th, 10th, 25th, 50th, 75th, 90th, and 95th
percentiles). These height percentiles must be converted to height Z scores given by: 5% = 1.645; 10% = 1.28; 25% = 0.68; 50% = 0; 75% = 0.68;
90% = 1.28; and 95% = 1.645, and then computed according to the methodology in steps 2 through 4 described in Appendix B. For children with height
percentiles other than these, follow steps 1 through 4 as described in Appendix B.
(Source D1: BP levels for boys by age and height percentiles Reproduced with permission from Pediatrics 114: 556576, Table 3 & 4 2004. Copyright AAP)
862 Hutchison's Paediatrics
* The 90th percentile is 1.28 SD, the 95th percentile is 1.645 SD, and the 99th percentile is 2.326 SD over the mean.
For research purposes, the SDs in Table B1 allow one to compute BP Z scores and percentiles for girls with height percentiles given in Table 4 (i.e. the
5th, 10th, 25th, 50th, 75th, 90th and 95th percentiles). These height percentiles must be converted to height Z scores given by: 5%=1.645; 10%=1.28;
25%=0.68; 50%=0; 75%=0.68; 90%=1.28; and 95%=1.645 and then computed according to the methodology in steps 2 through 4 described in
Appendix B. For children with height percentiles other than these, follow steps 1 through 4 as described in Appendix B.
(Source D2: BP levels for girls by age and height percentile Reproduced with permission from Pediatrics: 114: 556576, Table 3 & 4; 2004.
Copyright AAP)
Appendices 863
Head Lift 2=Can raise wrists above top of head, but cannot raise arms
0=Unable 3=3059 sec straight above head so that elbows are in full extension
1=19 sec 4=60119 sec 3=Can raise arms straight above head so that elbows are in
2=1029 sec 5= 2 min # of sec--- full extension.
Leg Raise/Touch Object Arm Raise/Duration: Can maintain wrists above top of
head for:
0=Unable to lift leg off table
1=Able to clear table, but cannot touch object (examiners 0=Unable
hand. 1=1-9 sec
2=Able to lift leg high enough to touch object (examiners 2=10-29 sec
hand). 3=30-59 sec
4= 60 sec. # of sec ------
Straight leg lift/duration
0=Unable 3=30-59 sec Floor Sit
1=1-9 sec 4=60-119 sec Going from a standing position to a sitting position on the
2=10-29 sec 5= 2 min # of sec --- floor
0=Unable. Afraid to even try, even if allowed to use a chair
Supine to prone for support. Child fears that he/she will collapse, fall into
0=Unable. Has difficulty even turning onto side, able to pull a sit, or harm self.
right arm under torso only slightly or not at all 1=Much difficulty. Able, but needs to hold onto a chair for
1=Turns onto side fairly easily, but cannot fully free right support during descent. Unable, or unwilling to try if not
arm, and is unable to fully assume a prone position allowed to use a chair for support.
2=Easily turns onto side, has some difficulty freeing arm, 2= Some difficulty. Can go from stand to sit without using a
but fully frees arm and fully assumes a prone position chair for support, but has at least some difficulty during
3=Easily turns over, fully frees right arm with no difficulty descent. May need Gowers.
Descends somewhat slowly and/or apprehensively, may
Sit-ups not have full control Or balance as maneuvers into a sit.
Hands on thighs, with counterbalance ------ 3=No difficulty. Requires no compensatory maneuvering.
Hands across chest, with counterbalance ------
Hands behind head, with counterbalance ------ All fours maneuvre
Hands on thighs, without counterbalance ------ 0=Unable to go from a prone to an all-fours position
Hands across chest, without counterbalance ------ 1=Barely able to assume and maintain an all fours position.
Hands behind head, without counterbalance ------ Unable to raise head to look straight ahead.
Total Sit-up Score (0-6) 2=Can maintain all-fours position with back straight and
head raised (so as to look straight ahead). But, cannot
Supine to Sit
creep (crawl) forward.
0=Unable by self 3=Can maintain all-fours, look straight ahead and creep
1=Much difficulty, Very slow, struggles greatly, barely (crawl) forward
makes it almost unable 4=Maintain balance while lifting and extending one leg.
2=Some difficulty. Able, but is somewhat slow struggles
some Floor Rise
3=No difficulty.
Going from a kneeling position on the floor to a standing
Arm Raise/Straighten position
0=Cannot raise wrists up to the level of the A-C joint 0=Unable, even if allowed to use a chair for support
1=Can raise wrists at least up to the level of the A-C joint, 1=Much difficulty. Able, but needs to use a chair for support
but not above top of head. (Unable if not allowed to use a chair).
864 Hutchison's Paediatrics
2=Moderate difficulty. Able to get up without using a chair 3= Able. Does not need to use exam table or hand on knee/
for support, but needs to place one thigh.
Or both hands on thighs/knees or floor. (Unable without
using hands) Pick-up
3=Mild difficulty. Does not need to place hands on knees, 0=Unable to bend over and pick up pencil off floor.
thighs or floor, but has at least some difficulty during 1=Much difficulty. Able, but relies heavily on support
ascent.
gained by placing
4=No difficulty.
hands on knees/thighs.
Chair Rise 2=Some difficulty. Has some difficulty (but not much
difficulty)
0= Unable to rise up from chair, even if allowed to place Needs to at least minimally and briefly place hand(s) on
hands on sides of chair seat. knees/thighs for support Is somewhat slow.
1= Much difficulty. Able, but needs to place hands on sides
3=No difficulty. No compensatory maneuver necessary.
of seat.
The maximum possible total score for the 14 maneuvers
Unable if not allowed to place hands on sides of seat.
is 52 (52 points of muscle strength/function)
2= Moderate difficulty. Able, but needs to place hands on
knees/thighs. Patient ___________________________________________
Does not need to place hands on sides of seat.
3= Mild difficulty. Does not need to place hands on seat, Date _____________________________________________
knees or thighs, but has at least some difficulty during
ascent. Total CMAS Score _________________________________
4= No difficulty.
Validation and Clinical Significance of the Childhood
Stool Step Myositis Assessment Scale for Assessment of Muscle
0= Unable. Function in the Juvenile Idiopathic Inflammatory
1= Much difficulty. Able, but needs to place one hand on Myopathies, Appendix A: Childhood Myositis Assessment
exam table (or examiners hand). Scale (CMAS) Scoring Sheet. Huber et al, Arthritis and
2= Some difficulty. Able, does not need to use exam table Rheumatism Vol 50, No 5 May 2004, page 1603. This
for support, but needs to use. material is reproduced with permission of John Wiley &
Hand on knee/thigh Sons, Inc
Index
Page numbers with f and t indicate figure and table, respectively
culture 827 Bronchiectasis 112, 114f, 632, 658, 658f Cataract 9f, 585, 585f, 586
film 306f , 596 in cystic fibrosis 115f Catheter 161
glucose 837 Bronchiolitis 657 Cat-scratch disease 498
per rectum 124 obliterans 116 Caudothalamic groove 690f
picture findings 318 Bronchogenic cyst 664 Causes of
samples 616, 825 Bronchograms 660f abnormal coagulation tests 609t
screening tests Bronchopleural fistula 660 acute renal failure 357t
of homoeostasis 315 Bronchopulmonary dysplasia 662 adrenal insufficiency 453t
tests 240 Bronchoscopy 846 anaemia
transfusion 191 Bruises 795f classified on red cell indices 602t
volume Bruising 741f arthralgia 323
according to body weight 191t Bubble appearance 676f arthritis 323
Blounts disease 474f Build cubes 24f child malnutrition 75f
Blow-out fracture 748f Bullae formation 492f childhood
Blunt Burkitt lymphoma 685 blindness 595
force trauma 794f Burn wound healing 199 stroke 376t
trauma 681f Burns 197, 198 chronic renal failure 358t
Body Butterfly rash 334f corneal opacity 581
composition 781 gastrointestinal bleeding 122t
fracture mandible 743f C heart failure by age 158t
plethysmograph 101f hyperglycaemia 838, 838t
C. diphtheriae 534
Bodily systems 12 hypertension 348t
C. tetani 538
Boggy swelling 797f hypoglycaemia 460t, 838, 838t
Caf au lait macules 284, 285f
Bohler orthosis 776f hypogonadism 448t
Calcaneo-navicular coalition 473f
Bohns nodules 487 hypopituitarism 434t
Calcaneovalgus 468
Bone iron deficiency 85
deformity 468f
infections 712
Calcinotic nodules 332f musculoskeletal pain 465t
marrow 319f
Calculus pem 75
examination 606
in bladder 350f precocious puberty 449t
plates 746f
within lower pole of left kidney 722f short stature 437t
tumours 716
Campylobacter 616t siadh 436t
window settings 715f
Candidal 498f tall stature 438t
marrow findings 318
Candidiasis 488, 498 uveitis 588
Bony
Capillary vasopressin deficiency 435t
spur 701f
haemangioma 489f Caustic ingestion 408, 409f
surgery 467
malformation 282, 282f Cautious feeding 81
Boot shaped heart 170f, 672f
sampling 826 Cavernous haemangioma 489f
Botulinum 538
Carbol fuchsin stain 841 Cavitation 487f, 692f
Bowing
Carbon monoxide poisoning 410 Cd40 ligand deficiency 516
deformity 706f
Cardiac Cell 597f
of lumbar lordosis 90f
and related conditions 673 Cells of
of tibiae
arrest 620 adaptive immune system 511
Bow leg 90f
catheter 161 innate immune system 510
Bowel 222
disorders 45 Cellulitis 578f
Bowel obstruction to meconium ileus 113f
lesion 634 Central
Bow-legs474f
tamponade 196 nervous system 3, 842
Boy with neurofibromatosis 72f
ventricular disproportion 206 peribronchial thickening 114f
Braces 766f
Cardiff card 570f venous access 838, 839
Bracing 476
Cardiology 157 precocious puberty 451t
Brain
Cardiomegalia glycogenica 426 Cephalocele 685
abscess 367, 694
Cardiomegaly 663f, 671f Cerebellar
stem glioma 699, 699f
Cardiomyopathy 180 astrocytoma 698
tumour 386
Cardiovascular function 15
water content 227
weighs 55t support 32 vermis 696f
Brainstem function 222 system 2, 14, 848 Cerebellum 697f, 698f
Branched-chain amino acid metabolism 420 Care of Cerebral
Branchial newborn birth 52 hemisphere 389f
arch anomalies 230 paediatric surgical patient 186 palsy 386, 386t, 387f, 477, 765f
cleft sinuses and fistulae 231f Caries 486, 487f Cerebrospinal fluid 615
cyst 232 prevention 486 absorption 224
Breast development 23 Carriers 534 production 223, 227
Breath-holding attacks 373 Cartilaginous femoral head 708f with pus cells
Breathing 400, 626, 637 Casals necklace on neck 95f and E. coli 842f
Bronchial wall cuffing.658f Cascade 315f, 509f, 608f and H. influenzae 842f
868 Hutchison's Paediatrics
Dimensions with scoring key to measure gross Downs syndrome 62 Elimination 781
motor function 774t Drowning and near drowning 411 disorders 646
Dimercaptosuccinic acid 718f Drug treatment of asthma 110 measures 402
Diphtheria 533 Drug-induced gingival overgrowth 490 Elliptocytosis 306f
Diploic space 306f Drugs 620t Emergencies 618, 628, 630f
Dipping 797f Drugs and associated toxic effects 401t Emergency
Dipstick testing 614, 614f DSS 560 dosage 620t
Directly observed treatment short course (DOTS) D-transposition of great vessels 672 drugs 620t
549 Duchennes muscular dystrophy 383 management of
Disabilities 390 anaphylaxis 633f
Duct closure 166f
Disability 627, 763f, 763t room management 200
Duct-dependent
assessment of neurological function 401 treatment 195, 503
cardiac lesion 634
Disaccharide intolerance 130 Emesis 401
Discharge planning 50 pulmonary circulation 169f
systemic circulation 168f Emotion and behaviour 639
Diseases 1 Emotional
associated with protein-losing enteropathy Duodenal
abuse 793
144t atresia 676
and neglect 792
caused by group a streptococcus 542t diaphragm 676, 676f
disorders 644
of nervous system 360 jejunal flexure 675f, 677f
issues stemming from trauma 758
progression 113 Duodenitis secondary to NSAIDs 328f
states 792
Disintegrating battery 409f Duodenum 676f, 677f
unexplained symptoms 643
Dislocation of lens 587 Duplex kidney 718f Emphysematous left upper lobe 664f
Disorder of sex development 456t Duplication cyst of oesophagus 665f Empyema 659, 659f, 669f
Disorders of Duplications 67 Enamel
amino acid metabolism 416 Dysautonomia 385, 584 dentine 504f
branched-chain amino acid metabolism 420 Dysgenesis 442f Enamel hypoplasia 501
cornea 582 Dyskinetic cerebral palsy 389f Encephalitis 364
emotion and behaviour 639 Dysmorphological presentations 416 Encephalocoele 733f
motor presentations 651 Dysplasia 471f
pigmentation 283 Encephalomalacia 694f
of hip 469, 707 Encephalopathy 364, 365
posterior pituitary 435
of left maxilla 752f Encephalopathy
purine and pyrimidine metabolism 423
Dystonia 770f with acidosis 415
sex development 455
specific sugars 421 Dystonic posture 378f without acidosis 415
sulphur-containing amino acids 421 Dystrophia myotonica 384 Encopresis 646
Disseminated intravascular coagulation Endemic iodine deficiency 440
consumption coagulopathy 317 E Endocarditis 617
Distal Endocrine disorders 434
Ear, nose and throat 102
left femoral diametaphysis 716f Endoscopic procedures 247
Early
renal tubular acidosis 354 Endoscopy 849
childhood 24, 754
trachea 675f Endotracheal
caries 487
Distended intubation 848
complications 230
appendix 679f tube malposition 662
diagnosis of cerebral palsy 390
stomach 678f Enema reduction 680f
distraction osteogenesis 737f
Disturbances of Energy requirements for infants 191
neonatal infection 54f
amino acid metabolism 419 Enteral feeding 154
nursing caries 487
nutrition 89 Enteric fever 538
Ears 8
Distraction osteogenesis 737f Enthesitis 326f
Eating disorders 649
Dna related arthritis 326
Ebsteins anomaly 173, 174f, 175f, 674
sequencing 71 Enthesopathic 326f
Echogenic
structure 69f Enuresis 646
choroid plexus 690f Environmental
transcription 70f
kidney 721f causes 393
translation 70f
Ectopic right kidney 720f enamel hypoplasia 501
vaccines 526
Domestic violence 791 Ectrodactyly 62f hypomineralisation 501
Dosage 620t Eczema 288 Eosinophils 510
Dosage dilemmas 782 herpeticum 290 Ependymoma 698
Dose calculation 782 Effects of Epidermal naevi 285
Dosing 616 hypothermia on babies 58t Epidermolysis bullosa 286, 491, 492f
Double zinc on diarrhoea 87 Epiglottitis 105, 631
aorta 177f Effective contributors 789f Epimerase deficiency 423
aortic Effective handwashing 824f Epinephrine 525
arch 675 Ehlers-Danlos syndrome 13 Epiphyseal
knuckle 167f Elbow crutches 768f dysgenesis 442f
bubble appearance 676f Electric prosthesis 779f height 709f
teeth 499 Elimination 781 Epiphyses around knee 316f
Index 871