PEDIATRICS- REVIEW

WITH GOD ALL THINGS ARE

POSSIBLE..
(Dr. FENI MARY SABU)
RESPIRATORY SYSTEM
EPIGLOTTITIS
ASTHMA
Note: In cystic fibrosis there may be asthma like findings due to
thick mucous productions which cause air trapping and chronic
hypoxia may cause clubbing of fingers which is not present Asthma
which is usually reversible disease.
Inhaled)
ICS + LABA
A. Chest x-ray
B. Gene mutation analysis
C. Histopathologic analysis of the nasal polyps
D. Sputum analysis with culture and sensitivity
testing
E. Sweat chloride test
A 3-year-old boy has sudden onset of dry cough with a small amount of bright red
blood produced when he coughs. He has had no fevers, runny nose, or vomiting. In
the Emergency . Department a chest x-ray shows hyperexpansion of the right lung
and clear lung fields. He attends daycare 5 days a week and interacts with many
other children. Which of the following is the most likely etiology of this child's
symptoms?
A. Bacterial pneumonia
B. Cystic fibrosis
C. Foreign body aspiration
D. Pulmonary arteriovenous malformation
E. Tuberculosis
A mother brings her 3-month-old infant to your office for a well-baby examination.
The prenatal and birth histories are unremarkable. Physical examination of the infant
is normal. The developmental milestones are appropriate for age. The mother is
mildly upset because her friend's baby, approximately of the same age as hers, died
recently in the crib. The cause remained unexplained even after autopsy. She asks for
more information about this incident and asks how to prevent it. What preventive
measure has dramatically decreased the incidence of this condition in the United
States?

A. Sleeping infants on the side

B. Sleeping infants in prone posit
C. Sleeping infants in supine pos
D. Home monitoring for apnea
E. Cessation of smoking
F. Bed sharing with parents
A. Bronchiolitis
B. Croup
C. Foreign-body aspiration
D. Retropharyngeal abscess
E. Status asthmaticus
The correct answer is C. Foreign-body aspiration is most
commonly seen in children 1 to 3 years of age because of the
size of the trachea, the lessening of parental supervision
secondary to increased independence of the child, and the
tendency of small children to put objects in their mouths.
Foreign bodies include hot dogs, peanuts, beans etc.
A. Arthritis
B. Cellulitis
C. Endocarditis
D. Hepatitis
E. Pneumonia
METABOLIC DISEASE
 PHENYLKETONURIA
Phenylketonuria (PKU) is autosomal dominant disorder and is
the most common inborn error of amino acid metabolism.

It results when a deficiency of the enzyme phenylalanine

hydroxylase (PAH) impairs the bodys ability to metabolize the
essential amino acid phenylalanine.

This leads to accumulation of phenylalanine in body fluids.

Elevated phenylalanine levels negatively impact cognitive

function, and individuals with classic phenylketonuria almost
always have intellectual disability unless levels are controlled
through dietary or pharmacologic treatment.
Symptoms
Phenylalanine plays a role in the body's production of melanin, the
pigment responsible for skin and hair color. Therefore, infants with the
condition often have lighter skin, hair, and eyes than brothers or sisters
without the disease.

Other symptoms may include:

Delayed mental and social skills
Head size significantly below normal
Hyperactivity
Jerking movements of the arms or legs
Intellectual disability
Seizures
Skin rashes
Tremors
Unusual positioning of hands
If the condition is untreated or foods containing phenylalanine are
not avoided, a "mousy" or "musty" odor may be detected on the
breath and skin and in urine. The unusual odor is due to a buildup of
phenylalanine substances in the body.
Skin findings in PKU are as follows:

Fair skin and hair

Eczema (including atopic dermatitis)
Light sensitivity
Increased incidence of pyogenic infections
Increased incidence of keratosis pilaris
Decreased number of pigmented nevi
Sclerodermalike plaques
Hair loss
Other manifestations of untreated PKU are as follows:
Intellectual disability (the most common finding overall)
Musty or mousy odor
Epilepsy (50%)
Extrapyramidal manifestations (eg, parkinsonism)
Eye abnormalities (eg, hypopigmentation)
Screening and investigation:

PKU can be easily detected with a simple blood test. Many hospitals
require a PKU screening test for all newborns as part of the newborn
screening panel. The test is generally done by taking a few drops of
blood from the baby before the baby leaves the hospital.

If the initial screening test is positive, further blood and urine tests are
required to confirm the diagnosis.
Treatment

PKU is a treatable disease. Treatment involves a diet that is extremely

low in phenylalanine, particularly when the child is growing.
The diet must be strictly followed. This requires close supervision by a
registered dietitian or doctor, and cooperation of the parent and child.
Those who continue the diet into adulthood have better physical and
mental health.
Diet for life has become the standard recommended by most experts.
This is especially important before conception and throughout
pregnancy.

Phenylalanine occurs in significant amounts in milk, eggs, and other

common foods. The artificial sweetener NutraSweet (aspartame) also
contains phenylalanine. Any products containing aspartame should be
avoided.
 A special infant formula called Lofenalac is made for infants with PKU.
It can be used throughout life as a protein source that is extremely
low in phenylalanine and balanced for the remaining essential amino
acids.

Taking supplements such as fish oil to replace the long chain fatty
acids missing from a standard phenylalanine-free diet may help
improve neurologic development, including fine motor coordination.

Other specific supplements, such as iron or carnitine, may be needed.

 Prognosis

The outcome is expected to be very good if the diet is closely followed,

starting shortly after the child's birth.

If treatment is delayed or the condition remains untreated, brain damage

will occur.

School functioning may be mildly impaired.

If proteins containing phenylalanine are not avoided, PKU can lead to

intellectual disability by the end of the first year of life.

Complications

Severe intellectual disability occurs if the disorder is untreated.

ADHD (attention-deficit hyperactivity disorder) appears to be a common

problem seen in those who do not stick to a very low-phenylalanine diet
Prevention
An enzyme assay can determine if parents carry the gene for PKU.

Chorionic villus sampling can be done during pregnancy to screen the

unborn baby for PKU.

It is very important that women with PKU closely follow a strict low-
phenylalanine diet both before becoming pregnant and throughout the
pregnancy, since build-up of this substance will damage the developing
baby even if the child has not inherited the defective gene.
GIT
 DIARRHEA

Acute diarrhea is defined as the abrupt onset of 3 or more loose stools

per day.
The augmented water content in the stools (above the normal value
of approximately 10 mL/kg/d in the infant and young child, or 200 g/d
in the teenager and adult) is due to an imbalance in the physiology of
the small and large intestinal processes involved in the absorption of
ions, organic substrates, and thus water.
A common disorder in its acute form, diarrhea has many causes and
may be mild to severe.
 Diarrheal episodes are classically distinguished into acute and
chronic (or persistent) based on their duration.

Acute diarrhea is thus defined as an episode that has an acute

onset and lasts no longer than 14 days;

chronic or persistent diarrhea is defined as an episode that lasts

longer than 14 days.

The distinction, supported by the World Health Organization

(WHO), has implications not only for classification and
epidemiological studies but also from a practical standpoint
because protracted diarrhea often has a different set of causes,
poses different problems of management, and has a different
prognosis.
ANS= A

The signs and symptoms of hypernatremia are mainly neurologic and include
lethargy, altered mental status,
irritability, and seizures. Hypernatremia can also cause muscle cramps, muscle
weakness, and decreased
deep tendon reflexes.
Hypovolemic hypernatremia develops secondary to renal losses (eg, diuretic
use. glycosuria) or extrarenal
losses (eg. gastrointestinal upset; excessive sweating). Hypervolemic
hypernatremia occurs due to
exogenous sodium intake or mineralocorticoid excess (eg. hyperaldosteronism).
When treating a patient with hypernatremia, the sodium must be slowly
returned to normal. In this infant with
hypernatremia and dehydration, the initial goal is to stabilize him with fluid
resuscitation as needed. When
giving intravenous fluid boluses, only isotonic solutions such as normal saline or
lactated Ringer's should be used.
A 12 year old girl presents to the emergency department (ED) with a 3-day
history of colicky lower abdominal pain and diarrhea. She describes 4-5
episodes a day of soft diarrhea with blood mixed throughout. She denies
having any fever, vomiting, or pain with defecation. Her last bowel
movement occurred a few hours before her arrival to the ED. She also
mentions having multiple intermittent episodes of bloody diarrhea (of
lesser severity) over the past several months. An abdominal radiograph is
ordered in triage (shown). Image courtesy of Wikimedia Commons.
How should the patient's diarrhea be classified?
A. Acute
B. Persistent
C. Chronic
Answer: C. Chronic
Diarrhea can be classified as acute, persistent (lasting
for 2 weeks or longer), or chronic (persisting for longer
than 1 month).Although the patient's current episode
has lasted 3 days, she has been experiencing these
symptoms for several months; therefore, the diarrhea
can be classified as chronic.
A 16-year-old boy is brought to the emergency department by the paramedics after his
parents called 911. The patient had collapsed in the bathroom, and when they went in
to help him they found the toilet bowl full of blood and mucus. He had previously been
in excellent health and they are bewildered that something like this could have
happened. On physical examination,the boy is in moderate distress, diaphoretic, and
pale. His temperature is 37.7 C (99.9 F), blood pressure is 90/50 mm Hg, pulse is
100/min, and respirations are 26/min. The patient complains of severe cramping
abdominal pain and a continuous urge to defecate. His abdomen is mildly tender to
palpation and there is a palpable mass in the right lower quadrant. Rectal examination
confirms rectal bleeding and yields bloody fecal material. Flexible
colonoscopy verifies the presence of ulcerations of the rectum and colon and multiple
biopsies show transmural inflammation. He is admitted to a monitored bed and daily
steroid enemas are ordered. Which of the following findings would support the
diagnosis of Crohn disease over ulcerative colitis?

A. Good response to systemic steroids

B. Involvement of the colon
C. Mouth ulcers
D. Rectal bleeding
E. Rectal disease
A. Diarrhea
B. Lactic acidosis
C. Renal tubular acidosis type 1
D. Renal tubular acidosis type 2
E. Vomiting
A 3-year-old boy is brought to the emergency department three hours after
having a seizure. He has been
having severe diarrhea for the last three days. His mother recently read about
the importance of maintaining
adequate hydration during diarrhea, so she had been giving him a lot of milk
mixed with water. On
examination, his vital signs are stable and mucus membranes are moist. Initial
What is the most likely cause of this patient's seizure?

A. SIADH
B. Water intoxication
C. Severe dehydration
D. Acute renal failure
E. Sepsis
ONCOLOGY
Acute Lymphoblastic Leukemia (ALL)

ALL is the most common childhood cancer

Characterized by large numbers of lymphoblasts in the bone marrow

and on peripheral smear.

Acute lymphoblastic leukemia (ALL) is a form of leukemia, or cancer of

the white blood cells characterized by excess lymphoblasts.

Malignant, immature white blood cells continuously multiply and are

overproduced in the bone marrow.
 "Acute" refers to the relatively short time course of the disease (being
fatal in as little as a few weeks if left untreated) to differentiate it from
the very different disease of chronic lymphocytic leukemia, which has
a potential time course of many years.

It is interchangeably referred to as lymphocytic or lymphoblastic. This

refers to the cells that are involved, which if they were normal would
be referred to as lymphocytes but are seen in this disease in a
relatively immature (also termed "blast") state.
 In general, cancer is caused by damage to DNA that leads to
uncontrolled cellular growth and spread throughout the body,
either by increasing chemical signals that cause growth or by
interrupting chemical signals that control growth.

Damage can be caused through the formation of fusion genes,

as well as the dysregulation of a proto-oncogene via
juxtaposition of it to the promoter of another gene, e.g. the T-
cell receptor gene. This damage may be caused by
environmental factors such as chemicals, drugs or radiation.
Risk factors/ etiology
Peak incidence 3-4 years of age
Children with Down syndrome, ataxia
telangiectasia von Recklinghausen, and
sideroblastic anemia are at increased
risk.
Treatment
Remission induction
Vncristine, prednisone, and L-asparaginase over
6 weeks
Prophylactic CNS radiation or intrathecal
methotrexate, and cytosine arabinoside with
hydrocortisone

Consolidation phase
Maintenance therapy for 2-3 years

If transfusion necessary, irradiated blood

products used to decrease the graft-versus-host
disease
Complications/ follow-up

Bone marrow the most common site of relapse

Other sites of relapses are CNS and testes.
Prognosis is least favorable in children younger than 2 years of age
or older than 10 years of age
WBC count greater than 100,000 is not favorable
Other poor prognostic indicators include CNS leukemia and
mediastinal mass
D/D

Aplastic anemia,
mononucleosis,
rheumatoid arthritis,
and other types of malignant tumors that
can pancytopenia (eg, neuroblastoma,
retinoblastoma, rhabdomysocarcoma)
A 9-year-old boy is brought to the office by his parents due
to headaches, vomiting and visual disturbances.
One week ago. he began to experience headaches that
were mo st prominent in the morning. He also
became lethargic, and had a decreased appetite and
decline in school performance. The pertinent physical
findings include an unbalanced gait, trunk dystaxia.
horizontal nystagmus, and papilledema. If this child had a
medulloblastoma. which structure would mo st likely be
affected?
A. Cerebellar hemispheres
B. Cerebellar vermis
C. Spinocerebellar tracts
D. Cerebellar peduncles
E. Frontal lobe
A 9-year-old boy is brought to the emergency department due to an
episode of seizures during class. His
teacher says that the seizure started suddenly, and he fell to the ground
with sustained flexion of the arms
and extension of the legs, followed by clonic movements of the whole
body. He has also been irritable lately,
and his school performance has declined. His parents arrive shortly and
say that they recently noticed he
was lethargic and frequently complained of headaches, especially in the
morning. His medical history is
unremarkable. Physical examination reveals decreased muscle strength of
the left side of the body, with
brisk deep tendon reflexes in the left arm and leg. MRI of the head
reveals a space-occupying lesion in the
right parietal lobe. W h a t tum or is mo st likely responsible for this
patient's symptoms?

A. Benign astrocytoma
B. Medulloblastoma
C. Glioblastoma multiforme
D. Pinealoma
E. Craniopharyngioma
GENETICS
Signs and symptoms
When recording the history from the parents of a child with Down
syndrome, the clinician should include the following:
Parental concern about hearing, vision, developmental delay, respiratory
infections, and other problems
Feeding history to ensure adequate caloric intake
Prenatal diagnosis of Down syndrome
Vomiting secondary to gastrointestinal tract blockage by duodenal web
or atresia
Absence of stools secondary to Hirschsprung disease
Delay in cognitive abilities, motor development, language development
(specifically expressive skills), and social competence
Arrhythmia, fainting episodes, palpitations, or chest pain secondary to a
heart lesion
Symptoms of sleep apnea, including snoring, restlessness during sleep,
difficulty awaking, daytime somnolence, behavioral changes, and school
problems
Diagnosis
Laboratory studies that may be helpful include the following:
Complete blood count with differential
Bone marrow examination to rule out leukemia
Thyroid-stimulating hormone (TSH) and thyroxine (T4) to rule out
hypothyroidism
Cytogenetic studies (karyotyping) for diagnosis of trisomy 21
Interphase fluorescence in situ hybridization (FISH) for rapid diagnosis
of trisomy 21
Assessment of mosaicism for trisomy 21 (lymphocyte preparations,
buccal mucosa cellular preparations, FISH, scoring frequency of trisomic
cells)
Immunoglobulin G
Maternal serum biochemical markers

Echocardiography in every newborn suspected of having trisomy 21 to

identify congenital heart disease
Ultrasonography
Postnatal diagnostic tests that may be warranted
include the following:

Auditory brainstem response (ABR), or brainstem

auditory evoked response (BAER)
Pediatric ophthalmic examination
Growth charts specifically for children with Down
syndrome
Rigorous dental hygiene and dental evaluation
Management
There are no medical treatments for intellectual disability associated
with Down syndrome, but improved medical care has greatly
enhanced quality of life and increased life expectancy.
Elements of medical care include the following:

Genetic counseling
Standard immunizations and well child care
Management of specific manifestations of Down syndrome and
associated conditions (eg, endocrine, infectious, cardiac, respiratory,
neurologic, psychiatric, dermatologic, or dental disorders)
Early intervention programs

Special considerations in adolescents are as follows:

Ongoing monitoring measures, including annual audiologic
evaluation and annual ophthalmologic evaluation
Ongoing management of manifestations of the syndrome and
associated conditions
Discussion of issues related to the transition to adulthood
Appropriate surgical management of associated conditions
should be provided, as follows:
Timely surgical treatment of cardiac anomalies is crucial for
optimal survival
Prompt surgical repair is necessary for GI anomalies, most
commonly, duodenal atresia and Hirschsprung disease
Surgical intervention may be necessary to stabilize the upper
segment of the cervical spine if neurologic deficits are
clinically significant
Congenital cataracts must be extracted soon after birth and
subsequent correction with glasses or contact lenses
provided
Careful anesthetic airway management is needed because of
the associated risk of cervical spine instability
Adenotonsillectomy may be performed to manage
obstructive sleep apnea
A 9-month-old girl with Down syndrome is brought to the office for followup of a
respiratory tract infection. This is the third time in 3 months that she has been
treated for pneumonia. She has difficulty feeding and is not gaining weight. She
frequently pauses during eating and has to calm down to be able to continue. She
also has difficulty breathing when she cries. The parents have noticed that she
started crawling over the past week but gets tired easily and seems to have an
aversion to activity of any sort. Her medical history is significant for multiple
respiratory tract infections, pneumonia, and poor growth. On physical examination,
the patient is below the fifth percentile for weight and height. Her lips are mildly
cyanotic. She has a hyperinflated thorax and a bulging precordium. Auscultation of
the heart reveals that the second heart sound is widely split with no respiratory
variations. There is a systolic ejection murmur at the upper left sternal border and a
diastolic rumble at the lower left sternal border. Chest radiography demonstrates a
grossly enlarged heart with a prominent pulmonary artery and increased pulmonary
vascular markings. Which of the following is the most likely diagnosis?
A. Atrial septal defect
B. Endocardial cushion defect
C. Mitral regurgitation
D. Tetralogy of Fallot
E. Ventricular septal defect
A 4196 g (9 lb 4 oz) infant is delivered via vaginal delivery to a 31-year-old
mother with gestational diabetes. The delivery was complicated by
shoulder dystocia. He is taken to the
newborn nursery where his initial plasma glucose level is 20 mg/dL. The
initial spun hematocrit is 65%. Which of the following congenital anomalies
is this baby most likely to have?
A. Aniridia
B. Cleft palate
C. Macroglossia
D. Omphalocele
E. Single palmar crease
F. Small left colon
GROWTH
Failure to thrive (FTT)

is a term that is traditionally used for

children who have failed to develop and grow
normally.

In general practice, FTT is commonly used

for any child who fails to gain weight or height
according to standard medical growth charts.
 FEATURES

poor appetite and/or poor nutrition

chronic abdominal pain and diarrhea
persistent fever
weight loss
chronic worsening headaches and/or
vomiting
a growth curve very much below the
3rd percentile
a height that is much below that
predicted By midparental height
 DIAGNOSIS
Complete blood count
ESR
Urinalysis,urine culture
RFT,LFT
Stool test
Sweat chloride test
HIV test
Other testing will depend on a child's specific
symptoms, and may include (but are not limited to) an
upper gastrointestinal series for persistent vomiting,
serum glucose to look for diabetes, thyroid function
tests, blood and urine tests to look for metabolic
problems, and upper or lower gastrointestinal
endoscopy for persistent vomiting and/or chronic
diarrhea
 TREATMENT
Treatment depends on the underlying cause. If no
medical reason is found, treatment will consist of
nutritional therapy.
Sometimes may need hospitalization.
Feedings may be given orally, by a nasogastric tube
(usually as overnight slow drip feedings) if the child
just won't eat enough calories, or by an intravenous
(IV) line as total parenteral nutrition (TPN) if the child
is not able to digest and absorb oral feedings.
A 1-year-old child is brought to the physician for a routine visit. He was born full
term with a birth weight of 7lb
8oz (3.4kg) and a birth length of 20 in (50.8cm). He has had no major illnesses or
hospitalizations. His
parents report that he was breastfed exclusively for 6 months. He now eats a
variety of baby foods and is
being transitioned to whole milk. He can pull up to stand and cruise around
holding onto objects, but cannot
walk independently yet. He can feed himself small pieces of table food with his
thumb and first finger. The
only words he knows are mama. dada. and ball. His parents are concerned about
his growth because some
of the other children in his daycare class are bigger than him. On physical
examination, he weighs 22lbs
(10kg) and is 30 in (76.2cm) long. A complete examination is unremarkable.
Which of the following should
you tell his parents?
A. His weight is normal, but his height is less than expected.
B. His weight is less than expected, but his height is normal.
C. His growth is normal, but he has delayed motor
development.
D. His growth is normal, but he has delayed speech
development.
E. The child's growth and development are normal.
BONE AND JOINTS
Juvenile rheumatoid arthritis (JRA)
A chronic nonsuppurative inflammation of
the synovium of the joints
Characterized by joint effusions,
destruction of joint cartilage, and bone
deformity, destruction and fusion

Risk factors/ etiology

A specific etiology not known
A preexisting susceptibility followed by an
environmental triggers Infectious
triggers include viruses, Borrelia, and
Mycoplasma
Autoimmune origin
Presentation: morning stiffness, joint pain and
swelling,
warm Joint, decreased range of motion, erythema rare
Low-grade fever, malaise

Classification

Polyarticular (polyarthritis) involves many small

joints, especially of the hands and accounts for 35%
Onset insiduous or fulminant

Subdivided into
RF+ : older age of onset, association with nodules,
erosions, predilection for hands and wrists, and more
common in females
ANA+: in females, with onset at a younger age and
with a good prognosis
Seronegative
Pauciarticular (oligoarthritis)
Affects fewer but larger joints in an asymmetric
distribution

Subclassified into
ANA+ : most common form
Presents usually before 4th years of age
Affects knees, ankles, elbows
Common in girls
High risk for eye involvement such as iridocyclitis
Prognosis excellent

RF+ : erosions, polyarthritis, with a poor

prognosis

HLA B27+ : common in males with a high risk for

ankylosing spondylitis
Seronegative
Systemic JRA
Extra-articular manifestations such as
fever,
rash (especially with fever),
hepatosplenomegaly,
pleuritis, and
pericarditis
Joint manifestations appear within a
few months of the fever and are similar
to polyarticular JRA
Diagnostic tests
Hx, clinical features and lab tests

Clinical criteria:

Onset < 16 years of age

Arthritis or two or more of the following: limited
range of motion, tenderness or pain on motion,
increased heat in one or more joints
Duration 6 weeks or more
Onset of type of disease in first 6 months
Polyarthritis: five or more inflamed joints
Oligoarthritis: fewer than five inflamed joints
Systemic: arthitis with fever
Exclusion of other forms of juvenile arthritis
ESR and CRP elevated during active
phases of the disease
Anemia of chronic disease common

Leukocytosis and thrombocytosis

Radiographs show soft tissue swelling

early in the course of the disease, bone and
joint changes later

ANA rare in systemic onset disease, but

can be seen in pauciarticular and
polyarticular disease

Rheumatoid factor may or may not be

CARDIO VASCULAR SYSTEM
Acyanotic heart disease:
Ventricular septal defect (VSD)
Atrial septal difect (ASD)
Patent ductus arteriosus (PDA)
Endocardial cushion defects (A-V canal)
Coarctation of aorta

Cyanotic heart disease:

Tetralogy of Fallot (TOF)
Transposition of the great vessels
Pulmonary atresia
Tricuspid atresia
Total anomalous pulmonary venous return
(TAPVR)
Truncus arteriosus (TA)
Hypoplastic left heart (HLH)
 Coarctation of aorta

A constriction of aorta arising at any point

Majority (98%) occur just below the origin
of the left subclavian artery

Common in boys (2:1)

An increased incidence in Turner
syndrome, which is associated with bicuspid
aortic valve
Diagnostic tests
CXR:
Severe coarctation in infancy reveals cardiac
enlargement and pulmonary vascular markings
Older patients show rib notching from
enlargement of the intercostals providing collateral
blood flow

ECG:
In infancy, RVH
In later childhood, LVH

Echo:
Narrowed segment and a hypopulsatile
descending aorta
Complications
Hypertension, which can lead to
premature CAD,
heart failure,
encephalopathy, and intracranial
hemorrhage
Adults at risk for endocarditis
 ACUTE RHEUMATIC FEVER

Caused after pharyngeal infection with group A

-hemolytic streptococci (GABHS)
Most commonly seen in those who are
susceptible to infections by GABHS, namely, 5 to
15 yeas old
Acute glomerulonephritis (AGN) can follow
streptococcal infections of either the pharynx or
the skinin contrast to rheumatic fever, which
follows pharyngeal infection only.
Presentation
Usually presents 1-3 (2-6 weeks) weeks after a
preceding streptococcal pharyngitis
Jones criteria for diagnosis

Carey coombs murmur

A short diastolic rumbling murmur heard in mitral

valvulitis associated with acute rheumatic fever
Jones Criteria (Modified) for Diagnosis of
Rheumatic Fever
Absolute requirement is evidence of
preceding streptococcal infection,
that is, increased titers of
antistreptolysin O or other
streptococcal antibodies, positive
throat culture for group A
Streptococcus and then two major
or one major and two minor criteria.
A 22-month-old boy who recently immigrated from Eastern Europe
with his family is brought to your office by his mother who is worried
that he seems to tire easily. She describes how he becomes short of
breath with
t h even mild physical activity and cannot keep up with his peers
during play. The boy is at the 40 percentile for t h height and 20
percentile for weight. On general examination, there is no clubbing,
cyanosis, or peripheral edema, but there is a harsh 3/6 holosystolic
murmur over the left lower sternal border and a rumbling diastolic
murmur over the cardiac apex. Which of the following is the most
likely cause of his symptoms?

A. Tetralogy of Fallot
B. Atrial septal defect
C. Ventricular septal defect
D. Transposition of the great vessels
E. Mitral stenosis
A 6-month-old male is brought to your office for a routine check-
up. He has met all of the expected developmental milestones and
all of his vaccinations are up-to-date. On physical examination,
his peripheral pulses are somewhat accentuated. Cardiac
auscultation findings at the left sternal border show continuous
flow murmur. What is the most likely diagnosis?
A. Endocardial cushion defect
B. Mitral valve prolapse
C. Patent ductus arteriosus
D. Williams syndrome
A 15-year-old Caucasian female comes to your office because
her menses have not yet started. Her breast
development is Tanner stage 2 and there is scant pubic hair.
Physical examination is also significant for
decreased femoral pulses. Which of the following is the best
next step in evaluating her condition?
A. Abdominal CT scan
B. Progesterone challenge
C. Serum prolactin level
D. Karyotype analysis
E. Urine 17-hydroxyprogesterone level
The most common cause of primary amenorrhea is Turner
syndrome; a 45;XO karyotype chromosomal
disorder characterized by short stature, webbed neck;
hypogonadism (streak ovaries), lymphedema, high-
arched palate, congenitally bicuspid aortic valves, and coarctation of
the aorta. Most commonly, ovarian
failure in Turner syndrome manifests with delayed puberty as in this
patient, though at least 1/5 of patients will
have a normal puberty followed by early menopause. The decreased
femoral pulses described here may
indicate aortic coarctation, which occurs in approximately 10% of
patients with Turner syndrome. This
clinical diagnosis should be confirmed by karyotype analysis.
A 4-year-old boy is brought to the office because his school
teacher thinks that his dusky blue appearance
may have something to do with his inability to participate in
regular school activities. His mother says that he
has always appeared slightly out of breath. He has no history of
any trauma, past surgery or medical
conditions. His birth history is unremarkable. Physical
examination reveals perioral cyanosis and a systolic
murmur along the left sternal border. When the child squats,
the murmur disappears and the cyanosis
slightly improves. What is the most likely diagnosis of this
patient?
A. Ventricular septal defect
B. Atrial septal defect
C. Coarctation of aorta
D. Tetralogy of Fallot
E. Eisenmenger syndrome
Tetralogy of Fallot (TOF) accounts for approximately 10% of all
congenital heart diseases. The most
prominent feature is cyanosis that rarely improves with oxygen
therapy. A classic presentation is squatting,
which increases the systemic peripheral resistance, decreases the right
to left shunt, and improves the
cyanosis. Other manifestations include "tet" spells, which are hypoxic
episodes that are characterized by
paroxysms of deep, rapid breathing, and are caused by an increased
pulmonary vascular resistance. Crying,
infection, and exercise can lead to tet spells. Severe spells may
precipitate seizures and loss of
consciousness. The immediate treatment is administration of oxygen
and placing the child in a knee-chest
position, followed by the administration of fluids, morphine and
propranolol.
You are called to examine a 2-day-old male, newborn after he
was noted to be cyanotic. He was born at
term. His antenatal and birth histories are unremarkable.
Auscultation reveals a holosystolic murmur at the
left, lower sternal border and a single S2. No rales or rhonchi
are heard. Chest radiograph reveals
decreased pulmonary vascular markings and a normal-sized
heart. EKG reveals left axis deviation. What is
the most likely diagnosis?
A. Tetralogy of Fallot
B. Truncus arteriosus
C. Common atrioventricular canal
D. Ebsteins anomaly
E. Tricuspid atresia
Suspect tricuspid atresia in a cyanotic infant with left axis deviation.
This condition is characterized by
an absent connection between the right heart cavities, and a
hypoplastic or absent right ventricle. Ventricular
septal defects (holosystolic murmur on auscultation) occur in 90 % of
cases. Transposition of the great
arteries occur in 30% of cases (which is not likely to be the case here,
since the chest x-ray does not
demonstrate pulmonary overcirculation). Interestingly, the associated
heart defects, such as atrial septal
defect (ASD), ventricular septal defect (VSD), or patent ductus
arteriosus (PDA), are necessary for survival.
Venous blood passes through the ASD to reach the left cavities, and
then through the VSD back to the outlet
portion of the right ventricle to reach the pulmonary circulation.
Sometimes, there is an
DERMATOLOGY
NEONATOLOGY
An infant is born at term to a 27-year-old Caucasian female. The
prenatal course was uncomplicated. The
amniotic fluid is clear. Immediately after the delivery, the infant starts
crying and is moving all four extremities
actively. Heart rate is 140/min. He is making a grimace on the attempt
to put the suction catheter into his
nostrils. His body is pink: but extremities are cyanotic. Which of the
following is the next best step in
the management of the infant?
A. Intubate the child
B. Dry the infant and keep warm
C. Apply silver nitrate solution to the eyes
D. Administer vitamin KIM
E. Place umbilical catheter
ANS: B

This newborn seems to be doing well. The information

given can be used to calculate the Apgar score: good
muscular tone (2), strong respiratory effort (2), adequate
heart rate (2). good reflex irritability ( 1). and pink
body color (1). The Apgar score of 8 reflects good
ventilation and oxygenation: therefore, there is no need
of
active resuscitation (Choices A and E). Routine newborn
care should be provided. First of all, the airway
secretions should be cleared by suction, and the infant
should be dried and kept warm.
A term newborn infant from an uncomplicated pregnancy
is being examined. He is pink; except for his
extremities, which are blue. His heart rate is 150/min:
and his respirations are irregular and slow at40/min.
He coughs on nasal stimulation and has some flexion of
the extremities. What is his Apgar score?
A. 6/10
B. 7/10
C. 8/10
D 9/10
The Apgar score is measured in newborns at 0 and 5 minutes of life. It has five
components, and is scored as follows:
Color of the newborn:
0 body and extremities are blue/pale
1 body is pink and extremities are blue
2 body and extremities are pin
Heart rate:
0 heart shows no activity
1 HR <100 beats/'min
2 HR > 100 beats/'min
Reaction to nasal stimulation:
0 no response to stimulation
1 grimace
2 active cough
Tone/Activitv:
0 limp
1 some flexion of extremities
2 active flexion of extremities
Respirations:
0 completely absent
1 slow and irregular
2 good respiratory effort
In this newborn, the score for color is 1. heart rate is 2, reaction to nasal stimulation is 2,
tone/activity is 1, and respirations is 1: therefore, his Apgar score is 7/10.
Causes:
Maternal
Uterine
Fetal
Other
 PROBLEMS OF PREMATURITY:

RESPIRATORY PROBLEMS:
Respiratory distress syndrome (RDS)
Pneumothorax
CVS:
Apnea and bradycardia
Hypotension
Patent ductus arteriosus
Bronchopulmonary dysplasia (chronic lung
disease)
Anaemia of prematurity
METABOLIC
Hypoglycaemia
Hypocalcaemia
Electrolyte imbalance
Osteopenia of prematurity
CNS:
Intraventricular
haemorrhage/periventricular
Retinopathy of prematurity
leucomalacia
GIT:
Necrotising enterocolitis
Inguinal hernias
GENERAL:
Need for resuscitation at birth
Nutrition
Infection
Jaundice
Temperature control
 TORCH INFECTION

Maternal infection during

pregnancy (a set of perinatal
infections)
Cross placenta and affect fetus
Intrauterine infection are subclinical
Late complications
In TORCH infections neonate frequently
shows following S/S
T Toxoplasmosis /
Toxoplasma gondii
O Other infections (see
below)
R Rubella
C Cytomegalovirus
H Herpes simplex virus
The acronym has also been
listed as TORCHES, for
TOxoplasmosis,
Rubella,
Cytomegalovirus,
HErpes simplex,
Syphilis.
ENDOCRINOLOGY
Cretinism is a condition of severely
stunted physical and mental
growth due to untreated
congenital deficiency of thyroid
hormones (
congenital hypothyroidism) due to
maternal nutritional deficiency of
iodine.
CAH
 Rickets

Rickets is a disease of growing bone that is

unique to children and adolescents. It is caused
by a failure of osteoid to calcify in a growing
person. Failure of osteoid to calcify in adults is
called osteomalacia. Vitamin D deficiency
rickets occurs when the metabolites of vitamin
D are deficient. Less commonly, a dietary
deficiency of calcium or phosphorus may also
produce rickets.
Types
Nutritional Rickets
Vitamin D Resistant Rickets:
familial hypophosphatemia rickets
(FHR)
Vitamin D Dependant Rickets
Type I ( defect in renal
hydroxylase)
Type II ( end organ resistence to
1,25 (OH)2-D3
 S/S
Generalized muscular hypotonia of an unknown
mechanism is observed in most patients with clinical signs of
rickets.
If rickets occurs at a later age, thickening of the skull
develops. This produces frontal bossing and delays the
closure of the anterior fontanelle. In the long bones, laying
down of uncalcified osteoid at the metaphases leads to
spreading of those areas, producing knobby deformity,
which is visualized on radiography as cupping and flaring of
the metaphyses.
Weight bearing produces deformities such as bowlegs and
knock-knees.
In the chest, knobby deformities results in the rachitic
rosary along the costochondral junctions. The weakened ribs
pulled by muscles also produce flaring over the diaphragm,
which is known as Harrison groove.
The sternum may be pulled into a pigeon-breast deformity.
In more severe instances in children older than 2 years,
vertebral softening leads to kyphoscoliosis. The ends of the
long bones demonstrate that same knobby thickening.
At the ankle, palpation of the tibial malleolus gives the
impression of a double epiphysis (Marfan sign). Because the
softened long bones may bend, they may fracture one side
of the cortex (ie, greenstick fracture).
Laboratory Studies
The following findings may be noted in patients with rickets:
Early on in the course of rickets, the calcium (ionized fraction) is
low; however it is often within the reference range at the time of
diagnosis as parathyroid hormone levels increase.
Calcidiol (25-hydroxy vitamin D) levels are low, and parathyroid
hormone levels are elevated; however, determining calcidiol and
parathyroid hormone levels is typically not necessary.
Calcitriol levels maybe normal or elevated because of increased
parathyroid activity.
The phosphorus level is invariably low for age unless recent partial
treatment or recent exposure to sunlight has occurred.
Alkaline phosphatase levels are elevated.
A generalized aminoaciduria occurs from the parathyroid activity;
aminoaciduria does not occur in familial hypophosphatemia rickets
(FHR).
Imaging Studies
Radiography is indicated in patients with rickets.
The best single radiographic view for infants and children younger than
3 years is an anterior view of the knee that reveals the metaphyseal
end and epiphysis of the femur and tibia.
This site is best because growth is most rapid in this location, thus the
changes are accentuated.
The metaphyses exhibit widening and cupping because of their
exaggerated normal concavity and irregular calcification.
Because calcified osteoid is abundant, the provisional calcification zone
of the metaphysis is much more distant from the calcification center
of the epiphysis than is normal for age.
Along the shaft, the uncalcified osteoid causes the periosteum to
appear separated from the diaphysis.
Generalized osteomalacia occurs (observed as osteopenia), with visible
coarsening of trabeculae in contrast to the ground-glass osteopenia of
scurvy.
 Treatment for rickets may be gradually
administered over several months or in a single-
day dose of 15,000 mcg (600,000 U) of vitamin
D.

If the gradual method is chosen, 125-250 mcg (5000-10,000 U) is

given daily for 2-3 months until healing is well established and the
alkaline phosphatase concentration is approaching the reference
range.
Because this method requires daily treatment, success depends on
compliance.
Single-day dose method: 15,000 mcg
(600,000 U) PO qd divided in 4-6 doses for 1
d
Gradual method: 125-250 mcg (5000-10,000
U) qd for 2-3 mo
HEMATOLOGY
Renal system
A4-year-old boy is seen in the office for a general check-up. The child appears
well nourished and
has normal developmental milestones. His temperature is 36.6C(98F), pulse
rate is 80/min. and blood
pressure is 110/70mm Hg. On abdominal palpation, there is a lobular right-
sided flank mass, and the kidneys
are palpable bilaterally. What is the most likely cause of the flank mass in this
child?

A. Tumor originating from the metanephros

B. Malignancy of neural crest cells
C. Polycystic kidney disease, infantile type
D. Renal cell carcinoma, embryonal variant
E. Acquired renal cystic disease
All the given choices can potentially present as a flank mass, and
definitive diagnosis depends on the renal
biopsy results: however, in a child greater than 3 years of age. a
unilateral flank mass is highly suspicious for
Wilms tumor, which originates from the metanephros
Polycystic kidney disease presents with bilateral flank masses.
A newborn male has oliguria and a midline mass in the lower
abdomen. What is the most likely diagnosis?

A. Bladder exstrophy
B. Wilms tumor
C. Hypospadias
D. Posterior urethral valves
E. Cryptorchidism
F. Patent urachus
G. Omphalomesenteric cyst
This infant has a congenital lesion that is causing him to pass only small
volumes of urine. Posterior urethral
valves are the most common congenital obstructive urethral lesion in
males. This patient's midline lower
abdominal mass probably represents a distended bladder and further
supports this diagnosis. The finding of
a distended bladder indicates that the obstructive lesion is distal to the
bladder neck. Posterior urethral
valves are abnormal folds in the posterior urethral wall (distal prostatic
urethra) that obstruct urine flow out of
the bladder. Affected infants may develop hydronephrosis, azotemia,
and failure to thrive. Avoiding
cystourethrogram (VCUG) is the diagnostic test of choice.
An 8-year-old Caucasian boy is brought to the office for the evaluation of high-
grade fever, flank pain and
burning micturition for the last two days. He has had two previous episodes of
acute pyelonephritis. Physical
examination reveals costovertebral angle tenderness. Urinalysis shows pyuria,
significant bacteriuria. WBC
casts, positive nitrite and esterase. The voiding cystourethrogram (VCUG) reveals
vesicoureteral
reflux. What is the most likely complication of this condition, if left untreated?
A. Hydronephrosis
B. Renal stones
C. Renal scarring
D. Renal abscess
E. Renal cell carcinoma
ANS: C
Vesicoureteral reflux is the retrograde flow of urine from the bladder to
the ureter and renal pelvis. This
condition is a risk factor for urinary tract infections (UTIs), and repeated
UTIs consequently lead to
progressive renal scarring. Renal scarring secondary to reflux is the
major cause of end stage renal disease
in children. Reflux is present in almost all the children with renal scars,
and renal scars are present in up to
60% of children with gross reflux. The growing kidney is very prone to
scarring: therefore, scarring secondary
to reflux is more commonly seen in children than in adults. Reflux
nephropathy is one of the most common
causes of hypertension in children.
A 7-year-old African American boy is brought to your clinic with complaints
of bedwetting. He was toilet
trained at the age of 4. He has been able to pass urine normally in
daytime, but has never been dry at night.
There is no history of urgency or frequency during daytime. There is no
history suggestive of child abuse. He
had two episodes of urinary tract infections (UTI) from birth until he was 2-
years-old, but he has not had any
episodes ever since. What is the next best step in the management of this
patient?
A. Urinalysis
B. Intravenous pyelogram
C. Ultrasound of the kidneys
D. Prescription of Imipramine
E. Behavioral modification.
ANS: A
In the management of enuresis, it is important to rule out any
treatable causes such as urinary tract infection,
bleeding, or a structural defect in the urinary tract. The initial
evaluation should include a urinalysis since this
test is readily available and may provide valuable information.
Infection
Fever of unknown origin (with out
a focus)
 THE HUMAN HERPES VIRUSES

There are currently EIGHT KNOWN HUMAN

HERPESVIRUSES
(herpes simplex virus 1 and 2,
varicella zoster virus,
cytomegalovirus,
Epstein-Barr virus,
and human herpesviruses 6, 7 and 8).
The HALLMARK OF THE HERPESVIRUSES is that,
after primary infection, latency is established and
there is long-term persistence of the virus within the
host, usually in a dormant state.
After certain stimuli, reactivation of infection may
occur.
Herpes simplex virus (HSV) usually enters the body through
the mucous membranes or skin.
The incubation period for primary infection is 3-5 days.
After the neonatal period, HSV1 infections predominate.
The prevalence of HSV2 increases in early adulthood.
HSV1 is transmitted in body fluids such as saliva, while HSV2 is
mainly transmitted through the transfer of genital secretions.
Treatment is with aciclovir, a viral DNA polymerase inhibitor,
which may be used to treat severe symptomatic skin,
ophthalmic, cerebral and systemic infections.
If TB is suspected, a Mantoux test is performed -
2 units of purified protein derivative of
tuberculin (2TUssi, 0.1m intradermal and read
after 48-72 hours). Induration of greater than 10
mm is positive where no BCG has been given, 15
mm where no BCG has been given. Heaf tests
are no longer used for screening for TB.
CHILD ABUSE
Physical abuse

An intentional injury to a child younger

than 18 years by a parent, guardian, or
caregiver that results in bruises, burns,
fractures, lacerations, or any bodily
harm
 Presentation

Physical findings may not consistent with the history of the

childs developmental stage
Parents may have no explanation for the injury
Head trauma the most common cause of death from physical
abuse, and more than 95% of serious intracranial injuries in
the first year of life are from abuse
The parent or guardian may have delayed in seeking
appropriate care for the injury
Evaluate whether there are fractures or bruises in various
stages of healing
Bruises, especially patterned bruises, and those on the
buttocks and lower back should make one suspicious of
physical abuse
Cigarette burns are circular, punched out lesions with
uniformity in size
Immersion burns may have a stocking or glove pattern if the
childs extremities are immersed in scalding water
Bite marks greater than 3 cm should be attributed to those of
an adult
Patient may have alopecia from having the hair pulled
and broken at various lengths
Patient with head trauma may present with coma,
seizures, apnea, and evidence of increased intracranial
pressure
Check for retinal hemorrhages that are associated with
the shaken baby syndrome

Intra-abdominal injuries may be associated with a

lacerated liver, spleen, or intestine
Injuries that have a high association with child
abuse include all of the following EXCEPT
A. Cigarette burns
B. Distal tibial fracture
C. Scald burns of the buttocks
D. Spiral fracture of the femur
E. Retinal hemorrhage
 Acetaminophen
Antidote: N-acetylcysteine
If the acetaminophen level is 150 g/ml treat
with N-acetylcysteine
N-acetylcysteine works best if started within 8 h of
ingestion but can be given up to 16 h after ingestion
In severe cases, N-acetylcysteine may be given as
late as 24 36 h after ingestion
Liver enzymes, bilirubin levels, and PT (INR) should
be monitored in patients within the toxic range of
the acetaminophen nomogram
 iron
Antidote is deferoxamine (IV) administered
1)To symptomatic patients and those with
hypotension and lethargy regardless of the serum
iron level and total iron binding capacity (TIBC)
2)If the serum iron is greater than TIBC
3)If the serum iron level is >350 ug/dl

The urine turns vin rose when free iron binds

with deferoxamine
Treatment should continue until the patient is
symptom free