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Edited by: Dr. Michael Faheem M.D





Is an inflammation of the myocardium, caused by: infections, toxins, and autoimmune diseases.
Viral infection ( enteroviruses in particular) the most common cause of myocarditis in children.
Classically occurring in spring and summer, myocarditis develops more often in infants and young
children than in older children and adolescents.
Leads to tissue necrosis, thereby worsening myocardial function, dilating the heart, and increasing end
diastolic volume with resultant pulmonary edema and CHF.
Myocarditis typically presents as a flulike illness: fever, anorexia, lethargy, and irritability followed by
respiratory distress from acute heart failure.
A holosystolic murmur may be identified secondary to dilated cardiomyopathy and the resulting
functional mitral regurgitation.
Hepatomegaly can develop due to passive congestion Other features of heart failure include fatigue,
tachypnea, tachycardia, and decreased perfusion.
Affected children should be monitored in the intensive care unit because of the risk of acute
decompensation and fatal arrhythmias.
The workup for suspected myocarditis includes a (CBC) with differential, ESR and C-reactive protein,
cardiac enzymes, and blood and viral cultures.
A chest radiograph demonstrates cardiomegaly and pulmonary edema.
Electrocardiography most commonly shows low voltage QRS and sinus tachycardia.
Echo.is the best means of evaluating myocardial function and often shows global hypokinesis, left vent.
hypertrophy, left vent. dysfunction & pericardial effusion.
The gold standard for diagnosis is a myocardial biopsy, which also allows for disease stage


The most common congenital heart malformation.

VSDs range from small and asymptomatic to large with significant left-to-right shunting.
Indications of significant VSD is: left-to-right shunt First, he is symptomatic Second, he has the telltale
Affected patients have pansystolic murmurs loudest at the left lower sternal border.
There maybe also a diastolic murmurs at the apex because of increased flow across the mitral valve .
This patient should have an echocardiogram with a bubble study to evaluate his congenital heart
Most small ventricular septal defects close spontaneously and require no treatment, as long as there
are no signs of pulmonary vascular disease.
Reassurance and surveillance via EKG and echocardiography are needed in most patients.





Is the most common cyanotic congenital disease in children less than 4 years.
Patients often present with cyanotic spells.
The classic tetrad includes:
(1)subpulmonary stenosis (single S2), (2) overriding aorta, (3) ventricularseptal defect (VSD)
(pansystolic murmur), and (4) right ventricular hypertrophy.
Because a large unrestrictive VSD is always present, the right ventricular pressure is the same as the
left ventricular and aortic pressures.
Pulmonary artery pressure and flow are inversely proportional to the degree of subpulmonary
The degree of cyanosis correlates precisely with the degree of pulmonary stenosis.
Untreated patients with TOF are at risk for "hypercyanotic" or "tet" spells.
These spells are often precipitated by exertion (such as feeding) and are characterized by irritability,
cyanosis, and tachypnea.
The exact etiology of these episodes is unclear, it may be predisposed by peripheral vasodilation,
hyperventilation, and/or contractility of the Rt. ventricular outflow tract.
Regardless of the etiology, however, an increased right to left shunt across the ventricular septal defect
develops, causing a decrease in pulmonary blood flow and increased systemic venous return of
deoxygenated blood leading to worsening cyanosis.
If untreated, "tet" spells can lead to syncope or death.
The treatment of a "tet" spell is to place the child in a knee to chest position, which increases systemic
vascular resistance resulting in increased blood flow from the right ventricle to the pulmonary
Morphine and an intravenous fluid bolus can also be given to increase pulmonary blood flow.
Oxygen is of little benefit because the abnormality is decreased pulmonary blood flow, not insufficient


Are relatively common among children and may cause symptoms.

On exam, there is a widely split and fixed S2, systolic ejection murmur in the left upper sternal border,
and, if there is a large shunt, a diastolic murmur at the left lower sternal border.


A cyanotic heart disease which presents with cyanosis in the first 24 hours of life.
It is commonly seen in infants of diabetic mothers and in males.
The aorta arises from the right ventricle, and the pulmonary artery from the left ventricle.
As a result, deoxygenated blood coming from the body goes to the right atrium and ventricle and is
cycled back to the body through the aorta.
Oxygenated blood from the lungs is returned to the lungs by the left side of the heart through the
pulmonary artery.
During intrauterine life, the foramen ovale and ductus arteriosus provide mixing of the deoxygenated
and oxygenated blood, resulting in an almost normal oxygenation of the fetal circulation.
A patent foramen ovale or ductus arteriosus can maintain life after birth, as seen in a patient with
normal Apgar scores.
The foramen ovale and ductus arteriosus begin to close after birth, leading to decreased mixing and
poor oxygenation.



As the aorta is located in front of the pulmonary artery, the S2 aortic component is better heard than
the S2 pulmonic valve component and is audible as a single S2.
There is usually no murmur because the foramen ovale and ductus arteriosus have closed.
The neonate then presents with cyanosis and tachypnea within the first few hours of life.
Chest x-ray can be initially normal but show some evidence of increased pulmonary blood flow after 12 weeks.
Echocardiography confirms the diagnosis.
Prostaglandin E1 can be intravenously given to stabilize the neonate by maintaining the patency of the
ductus arteriosus, which is important for survival.
Surgical treatment is definitive.


Prostaglandin E1 is a vasodilator used to prevent ductus arteriosus closure in such infants,

to increase or maintain pulmonary blood flow and improve oxygenation until definitive surgery
can be performed.
Closure of the ductus arteriosus in such patients would cause progressive hypoxia and
metabolic acidosis.


A congenital defect characterized by stenosis of the aorta, usually near the ductus arteriosus. present
with hypertension in the upper part of the body (high BP in the arms) and relative hypoperfusion in the
lower part of the body (low BP in the legs).
The prevalence of COA in patients with Turner's syndrome is approximately 7%.
The clues to the diagnosis are occasional headaches and increased BP in both arms, leg muscle
fatigability while climbing stairs (due to lower body hypoperfusion).
And a mild, continuous murmur heard all over the chest (due to the development of collaterals between
the hypertensive and hypoperfused vessels).
Rib notching caused by the dilatation of the collateral chest wall vessels is specific for coarctation.


also causes a diastolic rumble but does not typically cause a pansystolic murmur at the left lower
sternal border unless there is tricuspid regurgitation as well.
Other features to suggest rheumatic fever such as fever, arthritis, or skin lesions.


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 defect (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 in a case where the
chest x- ray does not demonstrate pulmonary overcirculation).
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 associated pulmonary stenosis, and the blood passes through the PDA to
reach the pulmonary circulation.




Patients with normal arteries (without TGA) present in the first two weeks of life with progressive
cyanosis, tachypnea, easy fatigability, and poor feeding.
EKG reveals left ventricular hypertrophy, which occurs since the left ventricle handles both pulmonary
and systemic venous returns.
Echocardiography shows a fibromuscular membrane in the place of the tricuspid valve, a variably small
right ventricle, ventricular septal defect, and a large left ventricle.
The treatment generally includes PGE1 (to keep the ductus arteriosus open) and balloon atrial
septostomy (if the ASD is not large enough to allow an adequate flow from the right to left atrium)

It is reactive pericarditis with a pericardial effusion that present after surgery for congenital heart
Symptoms usually occur 1-6 weeks after surgery.
Although the cause is not known, it is thought to be an autoimmune response, possibly to a viral
Most children develop mild symptoms which are self-limited. In infants, pericardial effusions can
present with abdominal pain, vomiting, and decreased appetite.
Older children may complain of chest pain Fever is often present On examination, findings are
consistent with pericardial and/or pleural inflammation, including tachycardia, poor perfusion, pulses
paradoxus, distant heart tones, and jugular venous distention.
If the effusion is large enough to affect the function of the heart , pericardial tamponade can occur.


Most cardiac murmurs in childhood are benign (innocent) and require only observation. Know
the following features of a benign murmur:

systolic ejection quality.

varies with position;

Asymptomatic patient

Murmur intensity grade 2 or less

Normal S2

No audible clicks

Normal pulses

No other abnormalities.
Pathological murmurs may indicate or lead to congenital heart disease, and are very likely
when the patient has any of the following:

symptomatic patient

Murmur intensity more than grade 2.

Pansystolic murmur

Murmur loudest at upper left sternal border

Absent or diminished femoral pulses

Murmur's quality is unchanged with position.


Suspect rheumatic fever in a child with sore throat, low-grade fever, pericarditis, arthritis, chorea and
subcutaneous nodules.
Other features include erythema marginatum, elevated ESR and prolonged PR interval on EKG.
Rheumatic fever is caused by is group A streptococcus.



Diagnosis is made if two major or one major and two minor criteria (Jones criteria) are satisfied, in
addition to evidence of recent streptococcal infection (via detection of antistreptolysin antibodies,
cultures and other various antigen detection kits).
Jones criteria:
The five major criteria are:
Subcutaneous nodules.
Erythema marginatum.
The three minor criteria are:
Previous rheumatic fever.
The treatment is benzathine penicillin G.
Patients with chorea, pericarditis and arthritis may require additional therapy with anti-epileptics,
salicylates, and codeine, respectively.


Is an autosomal recessive disease characterized by congenital deafness and QT interval prolongation

on EKG.
QT interval prolongation predisposes to a particular type of ventricular tachycardia called torsades de
Torsades de pointes cause syncopal episodes and sudden death.
The clue to the diagnosis is a syncopal episode without following disorientation (post-episode confusion
is more characteristic for a seizure), hearing impairment & family history.
If the patient is asymptomatic or does not have a clearly documented syncope, beta blocker alone is
If the patient is symptomatic or has a documented episode of syncope, the treatment will be betablocker plus a DDD pacemaker.


Characterized by an accessory pathway between the atrium and ventricle resulting in pre-excitation
and an increased risk for tachyarrhythmias.
WPW is usually seen in otherwise healthy children or adolescents.
Affected patients can either be asymptomatic or present with chest pain, palpitations, syncope, or
cardiac arrest.
In WPW, an accessory pathway conducts antegrade from the atria to the ventricles faster than the
conduction through the AV node, which allows part of the ventricle to depolarize early.
This results in the classic EKG findings of a shortened PR interval, a slurred initial portion of the QRS
(the delta wave), and a widened QRS complex.
If there is retrograde conduction from the ventricles to the atria, supraventricular tachycardia (SVT) can
The EKG features of WPW will not be apparent during episodes of SVT, but the delta wave should be
visible once the rhythm is slowed.
Sudden death can occur from dysrhythmias if WPW is untreated.





Usually associated with a continuous flow murmur due to constant movement of blood from the highpressure aorta to the low-pressure pulmonary artery.
Small PDAs are often asymptomatic and detected incidentally on routine cardiac auscultation.
Physical examination is often unremarkable in small PDA, although mildly accentuated peripheral
pulses can occur.






In unimmunized children H. influenza type B is the most likely cause.

In Hib vaccinated patients: H.influenzae type A and nontypable strains, H.parainfluenzae,
Streptococcus pneumoniae
Sudden onset of; fever, sore throat, dysphagia and drooling.
Airway obstruction is the most concerning complication of epiglottitis.
This is a pediatric emergency and should be managed emergently with endotracheal intubation;
however, since intubation of such patients is difficult, preparation for possible tracheostomy is also
standardly performed.


Allergic rhinitis is characterized by an immunoglobulin E (lgE) mediated hypersensitivity to foreign

It may be acute or chronic, and can be confused with recurrent colds.
It may present with itchy eyes and tearing, swollen mucosa, headaches and nasal obstruction, if the
age of onset is in the second decade of life.
Diagnosis is by allergy testing and findings of eosinophilia in the nasal discharge.


The most common predisposing factor for acute bacterial sinusitis is a viral upper respiratory

CHOANAL ATRESIA: Extremely high yield question for USMLE.

Suspect choanal atresia in an infant who presents with cyanosis that is aggravated by feeding and
relieved by crying.
Failure to pass a catheter through the nose 3-4 cm into the oropharynx is suggestive of the diagnosis.
The diagnosis is confirmed by CT scan with intranasal contrast.
First step in management consists of placing an oral airway and lavage feeding.
Definitive treatment involves repairing the obstruction with surgery or endoscopy.


An acute onset of headaches and focal neurologic symptoms after an episode of acute otitis media or
sinusitis most likely has a brain abscess.
Hypothermia, hypotension.
Ring-enhancing lesions are usually seen on CT or MRI scan.





Streptococcus pneumonia is the most common cause of acute sinusitis in childhood, followed by
Haemophilus influenza and Moraxella catarrhalis.
Staphylococcus aureus and anaerobes are common etiologic agents of chronic sinusitis, and are rarely
seen in acute cases.
Diagnosis of acute bacterial sinusitis for children <6 years of age should be based on clinical rather
than radiographic criteria.
The treatment is antibiotics, in uncomplicated sinusitis, the treatment of choice is amoxicillin 45-50


Cholesteatomas in children can either be congenital or acquired secondary to chronic middle ear
Congenital cholesteatomas typically found in younger patients around the age of five.
New-onset hearing loss or chronic ear drainage despite antibiotic therapy are typical presenting
symptoms of acquire cholesteatomas, and granulation tissue and skin debris may be seen within
retraction pockets of the tympanic membrane on otoscopy.
Complications of cholesteatomas include hearing loss, cranial nerve palsies, vertigo, and lifethreatening infections as brain abscesses or meningitis.
Should be referred to an otolaryngologist for a dedicated otologic exam, possibly accompanied by a
CT and/or surgical visualization to confirm the diagnosis.


The most common causative organism is Streptococcus pneumoniae (40% of cases), followed by nontypable Haemophilus influenzae & Moraxella catarrhalis.
Acute otitis media should be considered in any patient with symptoms of ear drainage and difficulty
Ear pain is also common, but may be absent in young patients.
Nonspecific systemic symptoms: fever, irritability, and diarrhea can sometimes be present.
The first-line treatment is 10 day course of amoxicillin.


Any adolescent with a nasal obstruction, visible nasal mass, and frequent epistaxis is considered to
have a juvenile angiofibroma (JNA) unless proven otherwise.
This is typically found in the back of the nose or upper throat (nasopharynx) of adolescent boys.
It is a benign growth, but is capable of eroding and locally invading.
Removal is often difficult because the tumor is unencapsulated and may be deeply invasive.
Recurrence of the tumor after surgical resection is common.


Present with: fever, irritability, and fatigue along with a sore throat, dysphagia, trismus, a muffled or
"hot potato" voice, and/or neck stiffness.
On examination, unilateral cervical lymphadenopathy and decreased range of motion of the neck are



The oropharynx may be erythematous and a unilateral pharyngeal bulge may be present if the child is
able to open the mouth.
Respiratory distress, if present, is concerning for airway obstruction.
Diagnosis can be confirmed with either plain X-ray or a CT scan of the neck.
Lateral neck X-ray often show widening of the soft tissue space between the trachea and the spine.
Due to false +ve & -ve results of X-ray, so the diagnosis should be confirmed by CT, which will delineate
the abscess and help distinguish between an abscess and cellulitis.


Inflamed, fluctuant cervical lymph nodes are typically caused by streptococcal or

staphylococcal infection, The antibiotic of choice is dicloxacillin.
dicloxacillin will treat infections caused by methicillin-sensitive Staphylococcus aureus
(MSSA) but not methicillin- resistant Staphylococcus aureus (MRSA).


Also known as laryngotracheitis or laryngotracheobronchitis (LTB).

Is characterized by laryngeal inflammation that results in hoarseness, a barking cough, and varying
degrees of respiratory distress over time.
The typical patient is less than 3 years of age, and the most common causative agent is Parainfluenza
Croup is usually a clinical diagnosis Lateral neck x- rays show subglottic narrowing.
Give a trial of epinephrine in cases of croup before intubation.
A trial of racemic epinephrine should precede any invasive procedure in cases of croup, as this
decreases the need for intubation.
Epinephrine acts by its alpha-adrenergic that is beneficial by reducing bronchial secretions and
mucosal edema and
Beta-adrenergic effects that help croup patients who are also wheezing by promoting smooth muscle


is the most common cause of chronic inspiratory noise in infants.

Laryngoscopy shows flaccidity of the larynx, and collapses during inspiration.
It is a self-limiting condition in most cases, and generally subsides by 18 months of age.
The mother should be instructed to hold the child in an upright position for half an hour after feeding,
and to never feed the child when he is lying down.






Gonococcal conjunctivitis: A copious amount of purulent drainage in newborns who are 2-5 days old
is most consistent with gonococcal conjunctivitis.
Chlamydia trachomatis conjunctivitis: caused by Chlamydia trachomatis is usually milder and presents
> 5 days after birth.
Chemical conjunctivitis can result from prophylactic silver nitrate eye drops, but it is usually fairly mild.


The conjunctiva is red with copious, watery discharge.

Children are more commonly infected through contaminated swimming pools.
It is mostly caused by adenovirus type 3.


It is the most common cause of a red eye that presents within the first 24 hours of life.
Approximately 80% of patients who receive silver nitrate prophylaxis (to prevent gonococcal
conjunctivitis) experience mild conjunctival irritation and tearing that generally resolve within 24 hours.


is acquired through contact with infected genital secretions, and occurs 2-5 days after birth.
It presents as a hyperacute and highly purulent conjunctivitis with copious, purulent eye discharge with
swollen eyelids and chemosis.
It is the most destructive neonatal eye infection, since it may result in corneal perforation and
permanent blindness if left untreated.
The treatment is ceftriaxone.


Develops a few days to several weeks after birth ( > 5 days after birth).
Manifests with conjunctival congestion, edema, and mucoid or frank purulent discharge.
Pneumonia usually appears 3 to 19 weeks after birth, and symptoms include cough, tachypnea, and
rales; there is no fever, and wheezing is rare.
The latter two features permit to differentiate chlamydial pneumonia from RSV bronchiolitis.
The treatment is oral erythromycin for 14 days, as topical agents are ineffective.




caused by Chlamydia trachomatis serotype A-C. It is a major cause of blindness worldwide.

The active phase of the disease is characterized by follicular cionjunctivitis and pannus
(neovascularization) formation in the cornea.
Conjunctivitis usually presents on the 5th to 14th day of life as congestion and discharge that may be
scant, mucoid or frankly purulent.
Concurrent infection occurs in the nasopharynx, leading to nasal discharge.
The diagnosis can be made by Giemsa stain examination of conjunctiva! scrapings.
Topical tetracycline or oral azithromycin should be started immediately.
The treatment is erythromycin, which has to be administered systemically (oral) to decrease the risk of
chlamydial pneumonia.
Repeated infections can lead to scarring of the cornea.


Common findings in child abuse. Multiple retinal hemorrhages that differ in size and color support the
suspicion of child abuse.
A precipitating factor (stepfather/mother, financial issue) is usually present in the history In addition,
there may be bruises that usually have associated swelling and tenderness.
In this case, nothing in the history and physical findings is suggestive of child abuse; therefore,
reporting to the authorities is not necessary.


Presents as pain, photophobia, and decreased vision.

Dendritic ulcer is the most common presentation.
There may also be minute clear vesicles in the corneal epithelium.


Is an infection that is posterior to the orbital septum which is unilateral and more common in children
with paranasal sinus infection.
Patients present with an abrupt onset of fever, proptosis, restriction of extraocular movements and
swollen, red eyelids.
Differentiating preseptal cellulitis and orbital cellulitis is important in any patient who presents with a
swollen and painful eye accompanied by fever.
Pain with eye movement is more suggestive of orbital cellulitis it can occur in preseptal cellulitis as
Both proptosis and decreased visual acuity are almost always seen in orbital cellulitis.
CT can be used to confirm the extent of infection and to identify a potential abscess.
Treatment requires intravenous broad-spectrum antibiotics.


Is an infection of the soft tissue anterior to the orbital septum, that is most commonly caused by
contiguous spread of infection from local facial or eye lid trauma.
It is often present with: eyelid swelling, tenderness, erythema or discoloration.





The presence of decreased eye movements, decreased visual acuity, proptosis or double vision is
more suggestive of orbital cellulitis.


Every case of leukocoria is considered a retinoblastoma, until proven otherwise.

So, this child needs prompt referral to an ophthalmologist.
Retinoblastoma is the most common intraocular tumor of childhood.
The underlying pathology involves inactivation of the Rb suppressor gene, which may be familial or
Retinoblastoma is a highly malignant tumor, and failure to diagnose and treat the disease early may
lead to death from liver and brain metastases.
The other manifestations of the disease may include strabismus, decreased vision, ocular
inflammation, eye pain, glaucoma, and orbital cellulitis.
The diagnosis is highly suspected with US or CT scan findings of a mass with calcifications.


an esodeviation (medial deviation of the eye), which is the most common type of strabismus,
representing over 50% of all cases.
Strabismus is the most common cause of amblyopia.
The cover test: asking the child to fix his sight on a target as the examiner alternately covers one eye
while observing the movement of the other.
A normal eye keeps the same position and does not move, whereas a misaligned eye shifts to refixate
the object when the normal eye is covered.
The standard of treatment is occlusion of the normal eye.
This procedure forces the affected eye to correct itself in order to be properly functional, thus
stimulating proper visual maturation.
In case the amblyopia is secondary to abnormalities of refraction, appropriate lenses should be
prescribed so as to have a well-formed retinal image.
The normal or less severely affected eye is then covered.
If the amblyopia is caused by an opaque media, surgical removal of the media should be performed
.before occlusion therapy.






Occurs in young children 2-12 years during Non-REM sleep.

Characterized by fear, crying or screaming, decreased level of consciousness. and amnesia of the
event next morning.


Todd's palsy is characterized by transient hemiplegia that occurs after a seizure.


are the most common cause of headaches in the pediatric population, occurring in 50% of cases before
the age of 20 years.
The aura can be visual (e g , blurred vision, scotoma, photophobia, distortion of objects) or sensory (e
g perioral paresthesia, numbness of extremities, shoulder pain, abdominal pain, otalgia).
Migraine headache is a clinical diagnosis, and further investigations are not usually indicated.
Neuroimaging is required only when there are behavioral changes, decline in school performance,
decline in growth parameters, early morning headaches, seizures, or abnormal neurologic findings.
In complicated migraines, neurologic signs (e g , basilar signs, ophthalmoplegia, or hemiparesis) may
be present, although the work-up reveals nothing abnormal.
These neurologic symptoms may last only during the headache or persist for several days or weeks.


can present with fever, headache, focal neurologic changes, seizure, spasticity, or signs of increased
intracranial pressure.
Congenital heart disease (particularly right-to-left shunts), head trauma, infections of the jaw or mouth,
infections of the face or scalp, meningitis, and cranial instrumentation increase the risk of developing
a brain abscess.


Characterized by a sudden cessation, without warning, of ongoing mental activity.

Each episode rarely lasts longer than 30 seconds.
A typical absence seizure is characterized by brief (typically lasting for a few seconds) periods of
impaired consciousness.
Patients may also present with automatisms, but do not have a post- ictal state.
Hyperventilation during the EEG reveals a generalized 3Hz spike-and-wave pattern on a normal





Minor motor symptoms are common, but complex automations and clonic activities do not occur.
Best diagnosed with EEG studies.
An EEG with activation procedures (hyperventilation, photic stimulation, sleep) helps in further
diagnosis and classification of seizures.
Ethosuximide is used almost exclusively for childhood absence seizures & valproic acid is the 2nd


An atypical absence seizure lasts longer.

The characteristic EEG pattern is slow spike-and-wave activity with a frequency less than


Seizures are classified as partial or generalized:

Generalized seizures involve the brain diffusely from the beginning of the event.
Partial seizures arise from a discrete focus in the brain.
In Partial seizures there are initial symptoms related to a specific focus in the brain e.g. an unusual
smell could be classified as an olfactory hallucination, referred to as an "aura" which is indicative of a
partial seizure arising from a specific focus in the brain.
Partial seizures can be further classified into simple partial seizures, complex partial seizures, and
partial seizures with secondary generalization.

Simple partial seizures: No Loss of consciousness.

Complex partial seizure: Loss of consciousness (failure to respond to various stimuli

during the episode) + automatisms during their loss of consciousness , as chewing,
picking movements of the hands, or lip smacking.
The EEG pattern is usually normal or may show brief discharges.
Partial seizure with secondary generalization: usually have tonic-clonic manifestations.
A post-ictal state lasting several hours can be seen with both complex partial seizures and partial
seizures with secondary generalization so this is not a helpful differentiating factor.
The presence of blood-tinged sputum is suggestive that the patient bit his tongue and would make a
partial seizure with secondary generalization more likely.
Loss of bladder or bowel control is also more likely in seizures with secondary generalization.
Phenytoin & carbamazepine are used as first-line drugs for ttt of 1ry generalized tonic-clonic seizures
or partial seizures with or without 2ndry generalization.


Represents a postictal condition that usually rapidly improves with restoration of motor function within
24 hours.
May follow generalized as well as focal seizures.
The exact pathophysiology of this condition is not well understood, but most probably involves
alteration in neuronal electrical activity.
It indicates that a structural abnormality underlying the seizure is present.





Is a subperiosteal hemorrhage; hence, it is always limited to the surface of one cranial bone.
There is no discoloration of the overlying scalp, and swelling is usually not visible until several hours
after birth because subperiosteal bleeding is a slow process.
Most cases do not require any treatment and resorb spontaneously within 2 weeks to 3 months,
depending on the size.
Rarely, phototherapy may be necessary to improve the hyperbilirubinemia.

.N.B.: Caput succedaneum:


is a diffuse, sometimes ecchymotic, swelling of the scalp.

It usually involves the portion of the head presenting during vertex delivery.
It may extend across the midline and across suture lines.


Consists of paralysis of vertical gaze that may be associated with pupillary disturbances and eyelid
retraction (Collier's sign).
The lesion is on the rostral midbrain at the level of the superior colliculus and CN III.
It is most commonly caused by germinomas and pinealomas at this region.
The endocrine syndrome results from interruption of hypothalamic inhibiting pathways, and sometimes
beta-hCG secretion and consequent Leydig's cell stimulation.


In 90% of cases, medulloblastoma arises from the cerebellar vermis, and is not associated
with Parinaud's syndrome.
Neuroblastoma is the third most common malignancy in the pediatric population, It arises
mostly from the adrenal glands and sympathetic paraspinal ganglia.
Although craniopharyngioma can also cause an endocrine syndrome, it results in visual field
defects owing to its sellar location.


an autosomal dominant disease which is also known as Steinert disease.

It is the second most common muscular dystrophy in the United States.
The pathology is distinct in that all types of muscles (i.e. smooth, striated, cardiac) are involved.
The patient initially appears normal at birth, then slowly develops muscle weakness and progressive
muscle wasting; especially in the distal muscles of the hands, posterior forearm muscles, and anterior
compartment of the lower legs.
The characteristic facial appearance: temporal wasting, thin cheeks, and an upper lip in the shape of
an inverted V.
Pertinent physical findings: emaciated extremities, atrophy of the thenar and hypothenar eminences,
proximal muscle weakness, positive Gowers sign, winged scapula, and myotonia Myotonia is defined
as delayed muscle relaxation, and the classic example is the inability to release the hand after a
In addition, abnormalities of the endocrine, immunologic, and nervous systems occur.
Endocrine manifestations include diabetes mellitus, testicular atrophy, frontal baldness and






are episodes of apnea that are sometimes associated with a loss of consciousness, and are
precipitated by frustration, anger, or pain.
These episodes usually occur in children ages 6-18 months.
Classically, the child gets frustrated and holds their breath, which may lead to loss of consciousness
followed by spontaneous resolution.
Unlike a seizure, there is no incontinence or postictal phase associated with breath holding spells.
These spells can be simple, cyanotic, pallid, or complicated.
In a simple breath holding spell, there is no change in circulation or oxygenation.
Cyanotic spells are associated with cyanosis during the spell, and may be associated with hypoxia and
decreased blood flow to the brain.
However, children with cyanotic breath holding spells usually have no long-term adverse effects from
the episode.
Pallid spells usually occur after painful events or minor trauma, and the affected child has pallor.
Complicated breath holding spells are a more severe form of the cyanotic or pallid types with
associated seizure-like activity However, EEG is normal.
Breath holding spells are diagnosed based on the clinical history.
Since iron deficiency anemia may be associated with breath holding spells, patients are generally
tested to rule-out anemia as a predisposing cause.
The most important step in managing affected patients is reassuring the parents that the episodes are
not harmful and will not have any long-term effects.
No treatment is necessary for breath holding spells, and affected children will eventually stop having
.Anemic patients, however, should be treated with iron supplementation.


In the pediatric population, CNS tumors are the most common solid tumors and the second most
common malignancies (after leukemias).
Approximately 60% of these tumors are infratentorial, 25% are supratentorial, and 15% arise in the
Astrocytomas are the most common histologic type for both supratentorial and infratentorial groups.


Is the second most common posterior fossa tumor (after cerebellar astrocytoma) in children.
It is highly radiosensitive and can metastasize through the CSF tract Over 90% of medulloblastomas
develop in the vermis.
This patient has posterior vermis syndrome (truncal dystaxia & horizontal nystagmus).


A young boy with symptoms of increased intracranial pressure ( headaches, vomiting), bitemporal
hemianopia, & a calcified lesion above the sella has a craniopharyngioma until proven otherwise.
Craniopharyngiomas are derived from epithelial remnants of Rathke's pouch.




It is not a true pituitary tumor, and is characterized by nests of squamous cells in a loose stroma,
resembling the appearance of embryonic tooth bud enamel.
Its location is suprasellar and inferior to the optic chiasm, which is why it can cause bi-temporal
hemianopia (by pressing the optic chiasm).
Associated endocrine symptoms such as diabetes insipidus, and growth failure associated with either
hypothyroidism or growth hormone deficiency may occur.
The diagnosis is usually made by (CT) or (MR): Presence of a cystic calcified parasellar lesion on MRI
is almost diagnostic of craniopharyngioma.
Surgical removal is the treatment of choice.
pituitary adenoma may present with similar symptoms; however, the condition is more frequent in
Furthermore, prolactinoma is an important part of the syndrome, and calcification of the gland does not

Type 1 neurofibromatosis:

Characterized by cafe-au-lait spots, axillary freckles, Lisch nodules of the iris, neurofibromas, and bony

Type 2 neurofibromatosis:

Is associated with brain tumors, especially bilateral acoustic neuromas.

Bilateral acoustic neuromas are diagnostic of neurofibromatosis.
Patients with neurofibromatosis have a tendency to form tumors in the central nervous system (CNS),
peripheral nervous system, skin and viscera.

Sturge-Weber syndrome: A neurocutaneous syndrome

Characterized by a congenital unilateral cavernous hemangioma along trigeminal nerve distribution &
intra-cranial calcifications that resemble a tramline in X-ray.
Also present with: focal or generalized seizures, mental retardation, and a port wine stain or nevus
flammeus along the branches of trigeminal nerve.
Other pertinent findings are hemianopia, hemiparesis, hemisensory disturbance, and ipsilateral
Treatment is aimed at controlling the seizures and reducing intraocular pressure Argon laser therapy
is successful in removing the skin lesions.

Tuberous sclerosis:

Ash leaf hypopigmentation, cardiac rhabdomyomas, kidney angioleiomyomas, mental retardation,



The characteristic features of neurofibromatosis 1: cafe-au-la it spots, macrocephaly, feeding

problems, short stature, and learning disabilities.
Patients may later develop fibromas, neurofibromas or different tumors.
The characteristic features of neurofibromatosis 2: are bilateral acoustic neuromas and






are uncommon but When they occur, they are often the result of a congenital abnormality, infection, or
systemic illness.
Many childhood strokes are caused by sickle cell anemia, and suspected by (patient's race, history of
dactylitis, and prior pain crisis are all consistent with sickle cell disease).
The mechanism of strokes in children with sickle cell anemia is not fully understood, but RBCs
adherence to the endothelium, activation of van Willebrand's factor, and hyperviscosity are all thought
to contribute.


Children who have trauma to the soft palate with a sharp object can either compress the internal carotid
artery (causing a thrombosis that embolizes to the brain and causes stroke) or dissect the internal
carotid artery (leading to ischemic stroke).
The onset of symptoms can be delayed up to 24 hours after the traumatic episode.
The diagnosis should be suspected clinically and can be confirmed with MRl/MRA of the brain.
Treatment is somewhat controversial and ranges from close observation with supportive care to
aggressive treatment with anticoagulation, with similar outcomes.


usually caused by injury to meningeal blood vessels & do not usually cross suture lines because of the
better dural attachment at the sutures.
The classic history of an epidural hematoma consists of a direct head injury followed by a lucid interval
and then rapid neurologic deterioration with headache, vomiting, seizures, confusion, and lethargy.
Affected patients can progress to coma and death due to herniation if not treated.
Infants with open fontanelles may present with bulging fontanelles, irritability, seizures, and hypotonia.
Older children and adolescents usually present with more classic symptoms of headache, vomiting,
and deteriorating mental status.
CT scan of the head is the diagnostic test of choice --> a biconvex mass.
The key to evaluating a child with an epidural hematoma is to search for the presence of clinical
features that necessitate an emergent craniotomy. which include any of the following: GCS < 8, signs
of increased ICP, pupillary abnormalities, hemiparesis, or cerebellar signs.


Diagnostic Criteria of Febrile seizures:

Seizure associated with a temperature >38C (1004F).
Age <6 years.
No CNS infection, No acute systemic metabolic cause of seizure & No history of previous
afebrile seizures.
Classified as: simple or complex.
A simple febrile seizure is a generalized tonic-clonic seizure that lasts <15 minutes and usually occurs
once in a 24-hour period.
It does not cause permanent brain injury or significantly increase the child's future risk of epilepsy.
Although febrile seizures can recur, children who experience simple febrile seizures are less likely to
have a recurrence.




A complex febrile seizure is diagnosed if the seizure is focal, lasts >15 minutes, or occurs more than
once with a total duration of seizure activity >30 minutes.
Children with complex febrile seizures are at increased risk for future febrile or afebrile seizures,
especially if there is family history of epilepsy in a parent or sibling.
Febrile seizures are associated with viral or bacterial infections (e.g. otitis media) However, serious
intracranial infections (e.g. meningitis) must be ruled out.
Once an intracranial infection has been ruled out, the patient can be treated for the fever and underlying
The patient can then be discharged home with parental education about the use of antipyretics and
seizure precautions.


Cerebral palsy is a non-progressive disorder characterized by impaired motor functioning.

The most common cause is cerebral anoxia.
Present as: hypotonia, hyperactive deep tendon reflexes, learning disabilities, along with an
intrapartum history of prolonged labor and low APGAR scores at birth.


Symptoms: Poor feeding, irritability, decreased activity, Vomiting.

Physical examination: Tense and bulging fontanelle, Prominent scalp veins, widely spaced cranial
sutures, rapidly increasing head circumference.
The best diagnostic approach in symptomatic children with rapidly increasing head circumference is to
perform diagnostic imaging.
A CT scan of the brain is the best initial choice in an infant who is acutely symptomatic & will reveal
ventricular dilation as well as the infant's anatomy.
In otherwise stable and asymptomatic infant, a sedated MRI could be considered to spare the child
radiation exposure.
Both CT and MRI provide greater detail than ultrasound, which requires a widely open anterior
fontanelle and is most useful in infants under 6 months.
Treatment: a shunt that is placed from the ventricle to the peritoneum, pleura, or right atrium; which
allows the excess CSF to drain.


Suspect Guillain-Barre syndrome in a child who presents with an ascending polyneuropathy one week
after an apparent viral infection (e.g. diarrhea).
The underlying pathology involves mainly the peripheral motor nerves, although sensory and
autonomic nerves may also be affected.


an autosomal recessive condition and genetic counseling is recommended for prenatal diagnosis for
parents with one affected child.
FA is associated with necrosis and degeneration of cardiac muscle fibers leading to myocarditis,
myocardial fibros is and cardiomyopathy.





Cardiac arrhythmia and congestive heart failure contribute to a significant number of deaths.


is a brachial palsy that occurs in newborns following excessive traction on the arm.
It consists of hand paralysis and ipsilateral Homer's syndrome (ptosis and miosis).
It is secondary to injury to seventh and eighth cervical nerves and first thoracic nerve.
Confirmation MRI, which demonstrates nerve root avulsion or rupture.
Treatment depends on the severity of the injury and, generally, it consists of partial immobilization and
appropriate positioning to prevent contractures.
Gentle massages and range-of-motion exercises can be started by 7-10 days of age.
If by 3-6 months there is no improvement, neuroplasty, neurolysis, end-to-end anastomosis, and nerve
grafting may be attempted.


is another type of brachial palsy in which the injury involves the fifth and sixth cervical nerves.
It presents with: absent Moro reflex and intact grasp reflex of the affected arm.
Patients present with a characteristic position, which consist of adduction and internal rotation of the
arm with pronation of the forearm.


SAH can be caused by an intraventricular hemorrhage, which is common in premature infants.

Accumulation of the blood in the subarachnoid space may lead to destruction of the arachnoid villi and
cisterns, thereby blocking the flow or decreasing the
absorption of CSF, and leading to communicating hydrocephalus.
SAH is the most common cause of communicating hydrocephalus.
CT scan: dilation of the entire ventricular system with distinct enlargement of the subarachnoid space
over the cerebral cortex is very suggestive of non-obstructive or communicating hydrocephalus
secondary to a subarachnoid hemorrhage (SAH).



Dandy-Walker anomaly and Chiari malformation will both reveal CT findings consistent with
obstructive or noncommunicating hydrocephalus
. Dandy-Walker Anomaly will demonstrate a cystic expansion of the fourth ventricle, and
Chiari malformation will reveal protrusion of the structures of the posterior fossa through the
foramen magnum.





present by: Normocytic or macrocytic anemia, Leukopenia, reticulocytopenia and thrombocytopenia.

B.M. biopsy (essential for diagnosis) --> profound hypocellularity in all cells with fatty infiltration.
Result from B.M. suppression due to acquired or congenital causes:
Acquired Causes of Aplastic Anemia:
Drugs (e.g, NSAIDs, sulfonamides, etc).
Toxic chemicals (e.g. benzene, glue, etc ).
Viral infections (e.g. HIV, EBV, etc ).
Immune disorders.
Congenital causes of aplastic anemia --> Fanconi's anemia.


are more common in children, and Fanconi anemia (FA) is the most common congenital cause.
It is an autosomal recessive or X-linked disorder associated with the clinical manifestations
summarized below.
Most patients with FA are diagnosed by the age of 16 years and have a predisposition for developing
Numerous genes, all believed to involve DNA repair, have been implicated.
Bone marrow: Aplastic anemia and progressive bone marrow failure.
Appearance: Short stature, microcephaly, abnormal thumbs, upper limb anomalies, renal
malformations and hypogonadism.
Skin: Hypopigmented/hyperpigmented areas, cafe au lait spots, and large freckles.
Eyes/ears: Strabismus, low-set ears, and middle ear abnormalities (e.g. hemorrhage, incomplete
development, chronic infections, deafness, etc ).
Diagnosis of FA is made by chromosomal breaks on genetic analysis combined with the clinical
The patient likely has bleeding secondary to thrombocytopenia, fatigue from macrocytic anemia, and
pounding in his ears from possible conduction defects or chronic hemorrhage.
The definitive treatment for aplastic anemia is hematopoietic stem cell transplantation.
Blood counts start to decrease at the age of 4-12 years.
Initial manifestations: Thrombocytopenia followed by neutropenia then anemia.






Congenital pure red cell aplasia.

Macrocytic anemia, low reticulocyte count, and congenital anomalies.
The majority of cases are sporadic, although dominant and recessive inheritance is found in 15 % of
The primary pathology is an intrinsic defect of erythroid progenitor cells which results in increased
Present in the 1st 3 months with pallor and poor feeding.
Congenital anomalies: Cleft palate, webbed neck, shielded chest, triphalangeal thumbs and cardiac
The macrocytic anemia of DBS is distinct from that of megaloblastic anemia as there is no
hypersegmentation of the nucleus in neutrophils & other blood cells in the former.
Electrophoresis reveals elevated fetal Hb levels
Chromosomal studies are normal.
Therapy is mainly corticosteroids. For unresponsive patients, transfusion therapy is indicated.
CBC --> Normocytic or macrocytic anemia with reticulocytopenia.
WBCs and Platelet counts are normal.


Acquired red cell aplasia which occurs in healthy children between 6 months and 5 years.
Gradual onset of symptoms as pallor and decreased activity.
Lab. --> Normocytic normochromic anemia with Hb level 3-8 mg/dl and extremely low reticulocytic


The most common RBC enzyme deficiency causing anemia is (G6PD) deficiency.
In affected patients, oxidant drugs (e g , antimalarials and sulfas) and infection can cause episodic


Autosomal recessive disorders of hemoglobin seen most commonly in people of Mediterranean

Clinical symptoms can range from minor to severe depending on the number of globin chains that are
Individuals with thalassemia trait usually have no symptoms and are diagnosed when routine laboratory
studies reveal a microcytic anemia with a normal RDW.
Clinically, thalassemia is confused with iron deficiency anemia; If microcytic anemia does not respond
to empiric oral iron therapy, iron studies should be done.
If the patient has normal iron studies, which rules out iron deficiency and makes thalassemia trait much
more likely.
Hemoglobin electrophoresis can be performed to confirm the diagnosis.
For individuals with thalassemia trait, no treatment is usually necessary.





Characterized by chronic hemolysis of sickled cells, leading to a high RBC turnover and anemia.
Patients with sickle cell anemia will have sickle cells and reticulocytes on their peripheral blood smear.
Reticulocytes are present because the bone marrow is attempting to compensate for the chronic
hemolysis characteristic of sickle cell anemia.
Painful crisis, the most common manifestation of sickle cell anemia.
These episodes due to intermittent vaso-occlusion in connective tissue & muscle, are characterized by
severe acute pain & tenderness, fever, tachycardia, and anxiety.
Hemolysis is mainly extravascular and leads to reticulocytosis, hyperbilirubinemia and elevated serum
LDH with low serum haptoglobin.
The hematocrit is generally 20-30 percent, owing to the decreased RBC volume.
Iron deficiency anemia is not common in SCD as the hemolysis of RBC is extravascular, and the iron
is usually restored and reused; however, iron deficiency secondary to increased utilization or urinary
iron loss can be present in up to 20% of patients.
Megaloblastic anemia occurs in vitamin B12 or folic acid deficiency, which is not usually seen with
SCD; although folate deficiency secondary to increased folate utilization can be seen in some
Anemia of chronic disease may occur in SCD if iron reuptake and use is decreased due to infection,
inflammation or some chronic illness.
Iron deficiency, folate deficiency, and anemia of chronic disease occur less frequently in SCD patients.
Sideroblastic anemia is seen in inherited or acquired defects affecting the biosynthesis of heme within
red cell precursors not related to SCD.
Salmonella and Staph aureus are the most common cause of osteomyelitis in patients with sickle cell
Pneumococcal vaccination plus penicillin prophylaxis can prevent almost all cases of pneumococcal
sepsis in patients with sickle cell anemia.
Those with sickle cell trait have some protection against malaria.

Complications of sickle cell disease:

Sickle cell disease is a chronic, well-compensated hemolytic anemia with appropriate reticulocytosis.
An acute drop in hemoglobin is can occur secondary to a hyperhemolytic crisis, splenic sequestration,
or an aplastic crisis.

An aplastic crisis: a transient arrest of erythropoiesis that results in a severe drop in hemoglobin and virtual
absence of reticulocytes on peripheral smear (reticulocytes < 1%).

It may be caused by infections such as parvovirus 819.

Treatment generally consists of a blood transfusion.
It is important to note that an aplastic crisis in sickle cell disease differs from aplastic anemia, which
occurs in other patients & characterized by pancytopenia.

A hyperhemolytic crisis: is a rare complication of sickle cell disease that is characterized by sudden, severe
anemia accompanied by an appropriate reticulocytosis.
Splenic sequestration: occurs in sickle cell patients who have not yet developed auto-splenectomy.

This is caused by vasoocclusion and pooling of red cells within the spleen, which may lead to severe
hypotensive shock.
It is characterized by a dramatic drop in hemoglobin concentration that is accompanied by persistent
The classic physical examination finding is a rapidly enlarging spleen.





Splenic sequestration carries a mortality of 10-15% and a 50% chance of recurrence, so splenectomy
is usually recommended after the first episode.

Acute chest syndrome: is characterized by the presence of fever, chest pain, and an infiltrate on chest X-ray.

The etiology of acute chest syndrome is thought to be multifactorial and related to pulmonary infarction
and infection.
While a drop in hemoglobin may be seen, severe anemia without associated reticulocytos is is not
seen in acute chest syndrome

A vaso-occlusive (painful) crisis: is characterized by acute onset of pain and is caused by vasoocclusion
secondary to the sickling of red blood cells.

These crises may be precipitated by changes in weather, dehydration, or infection.

Treated by adequate hydration and opioid analgesics.
Hydroxyurea is indicated in sickle cell patients with frequent, acute, painful episodes, as it tends to
increase the Hb F levels.
Hb F: retard sickling, so increased HbF levels lead to reduced sickling of red blood cells and
consequently, decrease episodes of vaso-occlusion.
Severe anemia and a low reticulocyte count are not seen in vaso-occlusive crises


patient has sickle cell trait, which is characterized by a Hb S concentration ranging from 3540% (sickle cell disease Hb S > 40%).
Individuals with sickle cell trait have a heterozygous genotype (AS) and are generally
Symptoms occur very rarely, and the most common of these is painless hematuria.
In a patient with a chronic hemolytic anemia and compensatory reticulocytosis, increased
demand for folic acid can lead to folic acid deficiency,
For this reason, patients with sickle cell anemia should be on folic acid supplementation
.vitamin B12 is also required However, in contrast to folic acid, B12 stores can be adequately
maintained by most every patient via diet alone.


Is a common cause of hemolysis and hemolytic anemia in the newborn.

Indicators of hemolysis: reticulocytosis and hyperbilirubinemia.
A positive Coombs' test points towards autoimmune hemolytic anemia, and a positive osmotic fragility
test indicates hemolysis confirms hereditary spherocytosis.
The peripheral smear may reveal anisocytosis and polychromatophilic reticulocytes and spherocytes.
Severe anemia and hyperbilirubinemia may require phototherapy or exchange transfusions.
HS is an autosomal dominant trait and is the most common hereditary hemolytic anemia in white
There is congenital RBC membrane defect in HS resulting in extravascular hemolysis occurring only
in the presence of spleen.
The osmotic fragility test is the next best test for the diagnosis of the patient.




.N.B: Other types of anemia:
Iron deficiency anemia often presents with pallor, pica, and fatigue, although these symptoms are often not
present in children.

Laboratory studies typically show a microcytic, hypochromic anemia with a low reticulocyte
count, high ROW, low serum iron, high TI BC, and low serum ferritin.

Anemia of chronic disease is unlikely in a child with no medical problems.


This type of anemia can be normocytic or microcytic, and laboratory studies will show a low
serum iron and low TIBC.

Vitamin B12 deficiency presents as a macrocytic anemia with an elevated MCV.

Reticulocytosis is a physiologic response of the bone marrow to anemia provided

adequate iron stores are present.

In hemolytic anemia (spherocytosis), the reticulocyte counts are much higher (sometimes as high as 9%)
Spherocytosis is unlikely with just 3% reticulocyte count.

Approximately 5%- 15% of the patients with thymic tumors have pure red cell aplasia, This
finding is most common in older women.
Sugar water test is done for the diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH).


Premature, 8 weeks of age, pallor is suggestive of mild anemia.

This condition usually presents at the second or third month of life, and the common symptoms and
signs are pallor, tachycardia, and tachypnea.
Although the infant may be getting iron via breast feeding, iron supplementation in the form of oral
ferrous salts or iron-fortified milk formula is still warranted.


is the most common anemia in premature and low birth weigh infants.
The pathology involves a combination of diminished RBC production, shortened RBC life span, and
blood loss.
Iron supplementation does not prevent falling hemoglobin levels, and iron deficiency is not the cause
of anemia of prematurity.
The treatment involves iron supplementation, periodic hemoglobin checking and blood transfusion, if
needed. Erythropoietin is not routinely used.


is common in infants and toddlers who drink excessive amounts of cow's milk.
Empiric oral iron therapy is appropriate for children with microcytic, hypochromic anemia.
Term infants usually have adequate iron stores to sustain them for the first six months of life.





After six months, dietary factors (insufficient intake, malabsorption) become the most important cause
of iron deficiency.
Early introduction to or excessive intake of cow's milk is of particular concern because cow's milk is
low in iron and can cause occult intestinal blood loss in infants.
Children should not be started on cow's milk until one year of age,


caused by iron deficiency can often be differentiated from thalassemia by an elevated RDW, which is
typically greater than 20% in iron deficiency.
The reticulocyte count is low in patients with iron deficiency due to decreased erythropoiesis.

N.B: Howell-Jolly bodies:

These bodies are nuclear remnants within RBCs that are typically removed by the spleen.
They are present on peripheral blood smear as single, round, blue inclusions on Wright stain.
Their presence indicates physical absence of spleen or functional hyposplenism due to splenic
autoinfarction, infiltrative disorders of spleen, or splenic congestion.


Leukemic patients can present with numerous infections, diarrhea and failure to thrive.
Although such patients present with more serious bacterial and fungal infections.
Hepatomegaly and splenomegaly may be found.
Laboratory studies reveal: leukocytosis, thrombocytopenia and anemia. Other findings may include
hyperuricemia,hyponatremia, elevated LDH and hypokalemia.


Acute lymphoblastic leukemia is the most common leukemia in children.

The first symptoms are nonspecific: anorexia, irritability and lethargy.
Patients may have a history of viral respiratory infection or exanthem from which they do not fully
On physical examination, there may be pallor, hepatosplenomegaly, petechiae, and/or
Diagnosis of leukemia is suggested by presence of anemia, thrombocytopenia and blast cells on
peripheral blood smear, but is confirmed by B.M. examination.
Lymphoblasts lack peroxidase positive granules but often contain cytoplasmic aggregates of periodic
acid Schiff (PAS) positive material.
Immunostaining for terminal deoxynucleotidyltransferase (TdT) is positive in more than 95% of patients
TdT is expressed only by pre B and pre T lymphoblasts.
Myeloblasts on the other hand contain peroxidase positive material.





Seen more commonly in adults.

It can present similarly to ALL with anemia, thrombocytopenia and high WBC count.
The main differentiating and diagnostic factor is demonstration of greater than 25% of myeloblasts in
the bone marrow.


usually presents in elderly patients. with fatigue, lymphadenopathy and splenomegaly.

Labs show lymphocyte count of greater than 5000/mm3, made of mature-appearing cells.


The most common presenting sign is Painless, firm, cervical or supraclavicular adenopathy.
Depending on the extent and location of nodal and extranodal disease, there maybe symptoms and
signs of airway obstruction, pleural or pericardial effusion, hepatocellular dysfunction, or bone marrow
Although signs and symptoms are similar to ALL, presence of lymphoblasts makes ALL most probable.


It is a neoplasm of mature B cells. It is associated with the Epstein-Barr virus infection.

Most patients present with either a mass involving the mandible or abdominal viscera.
High mitotic index is typical. Histological examination shows characteristic "starry sky appearance".
It is a very aggressive tumor but responds well to the high dose chemotherapy.


They are clonal stem cell disorders which may progress to acute leukemias.
These are usually seen in elderly patients, and are characterized by pancytopenia.


Is an lgA-mediated vasculitis of small vessels, affecting children more than adults.

Many cases follow an upper respiratory tract infection.
The clinical manifestations: a classic tetrad of rash, arthralgia, abdominal pain, and renal disease.
The rash is typically purpuric and distributed symmetrically over the lower legs, buttocks and arms.
Arthralgia most commonly affect the knees and ankles, these symptoms are always transient, and
there is no permanent damage to the joints.
GIT symptoms most commonly colicky abdominal pain (mostly due to local vasculitis) that is frequently
associated with vomiting,
Two common pathologies which should be ruled out emergently are GI bleeding and intussusception
( a surgical emergency, and is treated with air/barium enema).





Renal involvement relatively mild disease characterized by asymptomatic hematuria & proteinuria with
a normal or slightly elevated plasma creatinine; however,
More marked findings may occur including the nephrotic syndrome, hypertension, & acute renal failure
(treatment includes steroids and monitoring of renal function).
Other organs as the lung and central nervous system, may be involved.
Confirmation of the diagnosis requires evidence of tissue deposition in the skin or kidney of lgA by
immunofluorescence microscopy.


Minimal change disease: electron microscopy usually shows Podocyte fusion in the
Membranous nephropathy: electron microscopy shows Glomerular basement thickening & is
considered the most common cause of adult nephrotic syndrome.
Focal segmental glomerulosclerosis: electron microscopy shows Focal and segmental
Goodpasture's syndrome: electron microscopy shows Linear deposition of lgG on the
basement membrane is seen.


Cervical lymphadenopathy is common in children.

Lymphadenitis is diagnosed when the lymph node becomes tender and erythematous in addition to
being enlarged.
Lymphadenopathy maybe acute or subacute/chronic, and unilateral or bilateral.
Acute, unilateral lymphadenitis in children is usually caused by bacterial infection.
Staphylococcus aureus is the most common followed by group A streptococcus.
Patients with bacterial lymphadenitis are usually less than 5 years old and nontoxic appearing.
The affected lymph node is tender, warm, erythematous, and usually 3 to 6 cm in size.
In some cases, the infection can progress to induration and fluctuance.

N.B.: Other causes of unilateral lymphadenitis:

Tularemia: caused by Francisella tularensis, can present with acute unilateral cervical lymphadenopathy
Affected children.

usually have fever, chills, headache, and malaise in addition to the lymphadenopathy.
In addition, tularemia is a zoonosis and presents after contact with an infected animal (e g rabbits,
hamsters, or blood-sucking arthropods).

Peptostreptococcus is an anaerobic bacteria that can cause acute, unilateral lymphadenitis However,

it is usually seen in older children with a history of periodontal (gum) disease.

Nontuberculous mycobacteria (most commonly Mycobacterium avium-intracellulare)

are one cause of unilateral subacute-chronic lymphadenopathy Affected children are usually less than
5 years old and
present with firm, nontender lymphadenopathy that is usually less than 4 cm in size.
The skin over the lymph node often thins and develops a violaceous color.
Fever and tenderness are unusual with this infection.




Epstein-Barr virus usually presents with bilateral subacute-chronic lymphadenopathy along with systemic
symptoms such as fever, pharyngitis, hepatosplenomegaly and lymphocytosis.


Patients with genetic B-cell deficiencies begin to develop recurrent infections after passing 6 months
(when the newborn's levels of maternal antibodies drop).
The deficient humoral immune response in these patients impairs the body's ability to destroy
encapsulated organisms.
Hence, recurrent sinopulmonary infections with H. influenzae and S. pneumoniae are common.
Lack of lgA also predisposes to Giardia infection.


is a life-threatening syndrome due to adenosine deaminase deficiency & is an autosomal recessive.

Patients typically present with recurrent sinopulmonary infections, oral candidiasis, persistent diarrhea,
opportunistic infections and viral infections.
The diagnosis is confirmed by the following clinical features absent lymph nodes and tonsils,
lymphopenia, absent thymic shadow on chest x-rays,
Lymphopenia is a classic finding.
And abnormal T, B, and natural killer cell enumeration by flow cytometric analysis.


Also known as X-linked agammaglobulinemia is an X-linked recessive disorder characterized by a

defect in Bruton's tyrosine kinase, a signaling molecule expressed in B cells.
Patient's presentation is classic a male infant who is initially asymptomatic until 6-9 months of age,
after which he begins to experience recurrent pyogenic (S. pneumoniae and H. influenzae) infections.
absent tonsils and other palpable lymphoid tissue
There is normal number of T lymphocytes (CD3-positive) but a very low number of B lymphocytes
The low number of B lymphocytes leads to decreased immunoglobulin (Low Serum lgG, lgM and lgA),
causing decreased ability of immune system to attack bacteria.
The maternal lgG antibodies are responsible for keeping the infant free from infections in the first 6-9
months of life.
The diagnosis is confirmed by decreased serum concentrations of lgG, lgA, lgM and lgE, along with
absent or markedly decreased B cells on the smear.
Treatment intravenous immune globulin ( IVIG) infusion.
Fortunately, patients receiving regular infusions of IVIG may have an almost normal life.


Characterized by high levels of lgM with deficiency of lgG, lgA and poor specific antibody responses
to immunizations.
HIM presents with recurrent sinopulmonary infections and Pneumocystis jiroveci pneumonia.
The unique susceptibility to opportunistic infections and neutropenia, with high lgM levels, distinguishes
HIM from XLA or other hypogammaglobulinemias.






Also known as acquired hypogammaglobulinemia.

Similar presentation to Bruton's agammaglobulinemia; however, patients with (CVID) usually manifest
with less severe symptoms at a later age (about 15-35-yrs old).
The serum concentrations of lgG, lgA, lgM and lgE may also be decreased, but there is no absence or
decrease in the number of circulating B cells.
Furthermore, there is no sexual predominance in CVID.


Characterized by decreased lgG levels, normal lgA levels, and variable lgM levels.
These immunoglobulin levels all normalize by 6-11 months of age.


Selective lgA deficiency is characterized by decreased lgA levels (less than 50mcg/ml) with normal
serum concentrations of other immunoglobulins, although lgG2 subclass deficiency may occur.
There is no other evidence of any immune defects.
Patients commonly present with respiratory, gastro intestinal, and genitourinary infections + transfusion
Recurrent sinopulmonary (Streptococcus & Hemophilus) and GI infections (Giardia), a consequence
of lgA's role in mucosal barrier protection.
Patients with lgA deficiency may also form antibodies to lgA, predisposing them to anaphylactic
transfusion reactions.


DiGeorge syndrome is an example of a contiguous gene syndrome in which neighboring genes on a

chromosome are deleted.
DiGeorge syndrome is specifically caused by the microdeletion of 22q11.
The underlying pathology is a defect in the development of the 3rd and 4th pharyngeal pouches,
leading to: cyanotic heart disease, craniofacial skeleton anomalies (low-set ears and micrognathia),
absent thymus, absent parathyroid glands, recurrent infections, or cognitive impairment.
Absence of the parathyroid glands result in hypocalcemia; therefore, the patient's calcium levels must
be monitored during surgery.
Prolonged QT intervals may be caused by hypocalcemia.
Severe calcium deficiency can lead to laryngeal spasm, convulsions (a neonate with hypocalcemic
seizures), and cramping.
Thymic aplasia and consequent T cell deficiency, these children are susceptible to fungal infections.
Other congenital defects are esophageal atresia, anomalies of the great vessels, mandibular


Is a defect of phagocytic cells due to dysfunction of the NADPH oxidase enzyme complex (impaired
oxidative metabolism within the phagocytes) leading to:




Recurrent and uncontrolled infections with catalase-positive organisms, as S. aureus, Serratia

marcescens, Burkholderia cepacia, Klebsiella, and Aspergillus sp.
Patients are not susceptible to catalase-negative organisms (Streptococcus pyogenes, Streptococcus
pneumoniae, and Haemophilus influenzae).
CGD should be suspected in all patients presenting with unexplained infections caused by Aspergillus,
Serratia marcescens, and Burkholderia cepacia.
The most common findings are lymphadenopathy, hypergammaglobulinemia, hepatomegaly,
splenomegaly, anemia of chronic disease, underweight, chronic diarrhea, short stature, gingivitis, and
Neutrophilic functions such as chemotaxis, phagocytosis and degranulation are intact in these patients;
only intracellular killing is deficient.
Thus neutrophils filled with bacteria are a classic finding on Gram stain.
The diagnosis is made by nitroblue tetrazolium (NBT) slide test, flow cytometry, or cytochrome C
Treatment includes prevention of infection with daily trimethoprim-sulfamethoxazole and gammainterferon three times a week.
Bone marrow transplantation is experimental but curative.


An X-linked disorder characterized by the triad of thrombocytopenia, eczema, and recurrent bacterial
Recurrent infections are usually due to Streptococcus pneumoniae, Neisseria meningitidis, and
Haemophilus influenzae.
The thrombocytopenia is caused by decreased platelet production, and the few platelets that exist are
typically quite small.
Platelet counts in patients with WAS are typically less than 50,000/mm3 and the mean platelet volume
is also usually reduced.
Decreased platelet production is the primary pathophysiologic cause of thrombocytopenia in patients
with WAS.


An immune-mediated disorder caused by antibodies that bind to platelets and facilitate their removal
from the circulation.
Affected children typically present with easy bruisability or bleeding.


IVH is most commonly seen in premature and LBW infants.

Patients may present with pallor, cyanosis, hypotension, seizures, focal neurologic signs, bulging or
tense fontanel, apnea and bradycardia.
However, many cases remain asymptomatic, thus mandating transfontanel ultrasound for all newborns
with predisposing risk factors.
Studies have shown that the incidence of IVH is inversely proportional to birth weight (the lower the
birth weight, the greater the likelihood of IVH).
Pelvic dystocia, prenatal infections, congenital anomalies, and macrosomia are not directly
incriminated in IVH.






Routine perinatal care, includes parenteral injection of vitamin K after delivery.

This shot is given to prevent hemorrhagic disease of the newborn (HON), a potential consequence of
vitamin K deficiency.
Humans obtain vitamin K from two sources diet and via the gut flora.
Deficiency in newborn babies is the result of poor placental transfer, absent gut flora, and inadequate
levels in breast milk.
HDN results from deficiency of vitamin K-dependent clotting factors (II, VII, IX, X).
Signs include bruising, bloody stools, and (less commonly) intracranial hemorrhage.
Prolonged PT and PTI support the diagnosis, but the diagnosis is confirmed by reversal of symptoms
with vitamin K administration.
Mild vitamin K deficiency may present with an elevated PT level and a normal PTT .


Defined as a central venous hematocrit level greater than 65%.

The most common cause of polycythemia in term infants is delayed clamping of the umbilical cord
resulting in excess transfer of placental blood.
As the hematocrit rises, the viscosity of the blood increases as well as the arterial oxygen content, this
change in blood flow may affect various organs.
In newborns, the hematocrit level peaks within 12 hours of birth and then decreases over the
subsequent 12 hours.
Not all infants with polycythemia become symptomatic However, symptomatic infants may present with
manifestations to any organ.
The most common findings are plethora and CNS disturbances like lethargy, irritability, jitteriness, and
Other common symptoms are respiratory distress, tachypnea, and cyanosis, caused by the decrease
in pulmonary blood flow due to the hyperviscosity of blood.
Poor feeding, hypoglycemia, and hypocalcemia are also commonly seen in polycythemic infants.
Treatment includes hydration and, if symptomatic, partial exchange transfusion.


The common causes of purpura in children: thrombocytopenia, clotting factor deficiencies, and
Nearly 2.5% of the normal population have a platelet count of< 150,000/?L, and clinical manifestations
of thrombocytopenia (e g petechiae, purpura) usually do not occur unless the platelet count is <
Common clotting factor deficiencies causing purpura in children: van Willebrand disease, hemophilia
A (factor VIII deficiency) & hemophilia B (factor IX deficiency).
These conditions do not usually cause abdominal pain and other renal findings (proteinuria).
If there is no thrombocytopenia (paltelets > 100.000), then vasculitis should be high in suspecious,
especially if there is no abdominal pain or renal affection.
Henoch Schonlein purpura (HSP): a small vessel vasculitis that usually presents with the classic tetrad
lower extremity palpable purpura, arthritis/arthralgias, abdominal pain, and renal disease.
HSP is the most common form of systemic vasculitis in children.
50% of patients develop HSP after upper respiratory infection & have other nonspecific symptoms as
subcutaneous edema, joint pains, bloody stools, and scrotal edema.
Small bowel intussusception is a common complication of HSP.




Laboratory testing is usually normal (including a normal platelet count), although hematuria or
proteinuria may be found.
Diagnosis is usually based on clinical findings, and skin biopsy is rarely necessary.
Treatment is usually supportive, but NSAIDS are sometimes given to abdominal pain.

N.B: Purpura fulminans:


seen with bacterial infections (e.g. N. meningitidis, S. pneumoniae) However, patients are
usually very ill with fever, hypotension, and evidence of DIC.


usually occurs in children between 2 and 6 years of age.

The pathogenesis involves antibodies that bind to platelets, and subsequent destruction of these
complexes in the spleen.
The condition is usually preceded by a viral infection and presents with purpura, petechiae, hematuria
or GI bleeding & there is no adenopathy.
Laboratory studies usually show no abnormalities, except thrombocytopenia.
The course is self-l imited, and spontaneous recovery occurs in the majority of patients.
There is controversy on treatment, but corticosteroids are drugs of choice in all age groups for
thrombocytopenia less than 30,000/mm3, and/or for severe symptoms.
Patients with a platelet count of more than 30,000/mm3 usually have very few symptoms and do not
require treatment (Observation).


Presence of spontaneous hemarthrosis and soft tissue hematomas raise the suspicion for hemophilia,
for which factor VI 11 assay is diagnostic.
Spontaneous hearthrosis is very unlikely with any other form of bleeding disorder, including Von
Willebrand's disease.
The best next step is a complete set of coagulation studies followed by factor VIII and IX levels.
Prolonged PTI, normal prothrombin time, normal bleeding time, normal fibrinogen level and low serum
factor VIII activity are the typical lab findings.
The standard treatment for hemophilia is to replace the factor VIII.
However, mild hemophilia may be treated with desmopressin (DDAVP), which causes release of factor
VIII from the endothelial cells.


An immune deffeciency disease present with: recurrent bacterial infections and necrotic periodontal
Delayed separation of the umbilical cord (>3 weeks) is characteristic and presents an important clue
to the correct diagnosis.
The leukocytes fail to express some adhesion molecules on their surface.
The leukocyte number is increased, but the inter-leukocyte communication is defective; therefore,
chemotaxis and cytotoxicity are impaired.
Normal lymphocyte count and gamma globulin concentration help to differentiate this condition from a
variety of cell and/or humoral immune defects.





HEMOLYTIC UREMIC SYNDROME: Extremely high-yield question for the USMLE!!!

It is usually preceded by an acute diarrheal illness due to the pathogens Escherichia coli serotype 0157
H7, Shigella, Salmonella, Yersinia, and Campylobacter.
It is less commonly preceded by an upper respiratory infection.
GI bleeding is common, Physical examination frequently reveals purpura and hypertension.
The hallmark finding is microangiopathic hemolytic anemia.
Other typical features: acute renal failure, fever, oliguria (or anuria) and thrombocytopenia
The peripheral smear reveal schistocytes (which represent fragmented RBCs) and giant platelets.
lntravascular hemolysis results in elevated levels of (LDH) and indirect bilirubin, as well as reticulocyte
count BUN and creatinine levels are markedly elevated.
Moderate leukocytosis may be present.
The urine contains hemoglobin, hemosiderin, albumin, RBCs, WBCs, and casts.
Suspect HUS when: a diarrheal illness and presents with acute R.F., microangiopathic hemolytic
anemia, fever, thrombocytopenia and peripheral smear of schistocytes.



Howell-Jolly bodies: are nuclear remnants of RBCs present in sickle cell patients & are
generally removed by a functioning spleen.
Their presence in peripheral smear suggests functional asplenia in sickle cell patients (Sickle
cell patients usually have infarcted spleens by the first 18 to 36 months of life).
Heinz bodies: are aggregates of denatured hemoglobin & are commonly seen in patients with
hemolysis due to G6PD deficiency and thalassemia
Helmet cells are fragmented red blood cells, their presence is suggestive of traumatic
hemolytic conditions such as DIC, HUS and TIP.
Basophilic stippling are ribosomal precipitates which appear as blue granules & seen with
thalassemias, as well as lead or heavy metal poisoning.






Is a common cause of severe pulmonary infection in patient with cystic fibrosis (CF).
So the best treatment for a patient with severe exacerbation of cystic fibrosis is combination of
aminoglycosides (Tobramycine) and antipseudomonas penicillines (piperacillin).

N.B.: Staphylococcal aureus is a frequent cause of mild pulmonary infection in patient with cystic fibrosis SO;
when pulmonary infection is mild (cough and mucous production only) oral anti-staphylococcal antibiotic is
preferred (Dicloxacillin).

Mothers with gestational diabetes mellitus (GDM) usually give birth to large babies with the
most common complications:
Clavicular fracture which is usually greenstick fracture and heal rapidly without complications.
The characteristic laboratory findings of:
o Iron deficiency anemia are: decreased serum iron, decreased
percent of saturation (serum iron/ TIBC) & increased TIBC.
o Sideroblastic anemia: is characterized by increased serum iron
levels and normal TIBC.
o In dimorphic anemia: two distinct forms of red cells are circulating
o Megaloblastic anemia is characterized by an elevated MCV,
elevated MCH, and normal MCHC.
o Anemia of chronic disease is associated with decreased TIBC.


Is an autosomal recessive disorder that is more common in Caucasian people.

The cause is a defect in the CFTR (Cystic fibrosis transmembrane conductance regulator) protein,
which leads to impaired chloride transport in tissues and consequent multi-system involvement,

increased salt content in sweat gland secretions.

thick, viscous secretions in the lungs, pancreas, reproductive tract, and liver.
Young child presents with recurrent upper respiratory tract infection, persistent nasal discharge and
bilateral nasal polyps.
Also can be present with recurrent upper respiratory tract infections, bronchiectasis and failure to thrive.
The patient may have pulmonary manifestations, which begins as a persistent, productive cough, and
progresses to obstructive airway disease.
A deficiency of pancreatic enzymes leads to fat and protein malabsorption, thereby causing bulky,
greasy, foul-smelling stools and subsequent deficiency of fat-soluble vitamins (A, D, E and K).
Vitamin A deficiency presents as dry skin, and Vitamin K deficiency presents as epistaxis.
Vitamin K is an important cofactor of several coagulation factors factors II , VII , IX, and X as well as
proteins C and S.
Failure to thrive is the result of chronic malabsorption from pancreatic insufficiency.





Other possible presentations are meconium ileus at birth and infertility.

Meconium ileus is virtually diagnostic for cystic fibrosis, an autosomal recessive disorder.
A mutation of a single gene localized on chromosome 7 is responsible for this disorder.
Patient is suffering from an acute exacerbation of lung disease, and his presentation (shortness of
breath, excessive use of accessory respiratory muscles, hypotension) suggestive of severe attack.
The most common etiologic agent is Pseudomonas aeruginosa.
The three most common organisms that cause pneumonia in patients with cystic fibrosis are
Haemophilus, Pseudomonas, and Staphylococcus.
The treatment is rapid administration of empiric antibiotics and the usual choice is a combination of
two agents with coverage against Pseudomonas aeruginosa,(ceftazidime or a penicillin derivative such
as ticarcillin + an aminoglycoside such as amikacin or gentamicin).

N.B: It is essential to memorize the following for the USMLE


Gram-positive diplococci - Streptococcus pneumoniae.

Gram-positive cocci in clusters - Staphylococcus.
Gram-negative cocci - Neisseria.
Gram-positive rods - Listeria and Bacillus.
Gram-negative rods - Pseudomonas, Haemophilus, Klebsiella, Legionella.


Caused by Bordetella pertussis infection.

It is a highly contagious infection, but its incidence has dramatically decreased today because of
It usually presents with severe bouts of coughing spells after an upper respiratory tract infection.
The coughing spells can be so severe that they can cause rectal prolapse, epistaxis and
These spells may last from two to ten weeks
In patients with apparent subcutaneous emphysema secondary to severe coughing paroxysms, chest
x-rays must be obtained first to rule out pneumothorax(same mechanism).
Presence of leukocytosis with predominant small and normal-appearing lymphocytes further supports
the diagnosis.
The recommended first line treatment is a macrolide antibiotic (erythromycin, azithromycin, or
clarithromycin), regardless of the age or the immunization status.
Treatment is given whenever pertussis is suspected or confirmed, and regardless of the stage of the
For pertussis prevention, all close contacts should be given erythromycin for 14 days, regardless of
age, immunizations, or symptoms.


A sudden onset of respiratory distress may be caused by foreign body aspiration.

Direct laryngoscopy & rigid bronchoscopy is the procedure of choice for both diagnostic and therapeutic
Flexible bronchoscopy is a useful diagnostic tool but not therapeutic.
Segmental lung resection is used in some cases where rigid bronchoscopy fails to remove the foreign





Most often due to a double aortic arch, right-sided aorta, pulmonary sling, or anomalous innominate or
left carotid artery, causing tracheal compression.
Patients present with signs of chronic upper airway obstruction including stridor, wheezing, coughing,
and shortness of breath.
Symptoms are often worse while supine and relieved with neck extension.
Patients are commonly misdiagnosed as having reactive airway disease but will not respond to inhaled
bronchodilators and corticosteroids.
The treatment for severe disease is surgery.


Characterized by airway hyperreactivity, bronchospasm and inflammation.

It is a common illness in childhood, and about 10% of children present to the ED with unremitting
asthma (i.e. continuous wheezing despite adequate treatment).
Of these patients, less than 10% require mechanical ventilation; but, hospitalization is mandatory.
If the child has a "silent chest" or absent air entry, and continues to desaturate despite prednisone
treatment; so, the best option is hospitalization and mechanical ventilation.
Theophylline is an option when wheezing is severe; but it must be given I.V.and levels must be
monitored as the drug has a tendency to increase the heart rate.
For acute status asthmaticus, theophylline does not help much.


Tracheostomy is a surgical procedure when the upper airways are obstructed. It is nearly
always an elective procedure, and never done to relieve asthma.
Racemic epinephrine may help a little in moderate asthma, but in severe cases, its
administration will just delay the initiation of mechanical ventilation.
Racemic epinephrine has a better role in the management of croup.
Antibiotics are not indicated if there is no evidence of infection.


This syndrome is an autosomal recessive disorder due to dysmotile cilia.

Characterized by a classic triad of situs inversus, recurrent sinusitis, and bronchiectasis.
The typical radiographic finding is dextrocardia (the apex of the heart is in the right chest).
The aberrant production or attachment of dynein arms can frequently be verified on electron
microscopy, and results in impaired cilial function, poor clearance of secretions, and consequent
chronic secondary infections.


A large thymic shadow is a normal chest radiograph finding in children less than 2 years old.
Because the thymus is a soft organ, it can appear as a scalloped border.
It can also have a straight inferior border which usually appears on the right side and is called a "sail"
sign because it resembles the sail of a ship.





HYALINE MEMBRANE DISEASE (HMD): or Respiratory distress syndrome (RDS)

Occurs primarily in premature infants who are less than 28 weeks gestational age (the incidence of
RDS is inversely proportional to the gestational age).
Other risk factors: male sex, cesarean section without labor, perinatal asphyxia, and maternal diabetes.
Maternal diabetes increases the incidence of RDS in several ways Most importantly, maternal diabetes
delays the maturation of surfactant production in the lungs.
The mechanism is that fetal hyperinsulinism antagonizes the actions of cortisol and may delay the lung
maturation process.
The decreased production and secretion of surfactant is the 1ry cause.
In the absence of surfactant, atelectasis ensues and results in perfused but non-ventilated alveoli, and
consequently hypoxia.
HMD presents as: tachypnea, prominent grunting, intercostal and subcostal retractions, nasal flaring,
and duskiness within a few minutes after birth.
Breath sounds may be normal or diminished with a harsh tubular quality, & on deep inspiration, fine
rales may be heard, especially over the lung bases posteriorly.
The characteristic chest-x ray: fine reticular granularity of the lung parenchyma.
Treatment includes early mechanical ventilation and surfactant administration.


usually follows an uneventful normal term vaginal delivery or cesarean delivery.

It is characterized by the early onset of tachypnea, sometimes with retractions or expiratory grunting,
and cyanosis that is relieved by minimal oxygen.
The lungs are usually clear without rales or rhonchi & chest-x ray shows prominent pulmonary vascular
markings, fluid lines in the fissures, over-aeration, a flat diaphragm, and occasionally, pleural fluid.
Hypoxemia, hypercapnia, and acidosis are uncommon.
The distinguishing feature from (HMD) is the x-ray finding


Should be suspected in all term and post-term infants with cyanosis with or without fetal distress.
Persistence of fetal circulatory pattern of right-to-left shunting through the PDA and foramen ovale after
birth is due to very high pulmonary vascular resistance.
The associated hypoxia is universal and unresponsive to 100% oxygen.
The chest-x ray may be normal or may show parenchymal opacification in the chest, depending on the
Although the clinical presentation of PPHN is indistinguishable from HMD, the x-ray findings can





Usually occurs in term or post-term infants, either in utero or more often with the first breath.
Thick & particulate meconium is aspirated into lungs, resulting in small airway obstruction &
consequent respiratory distress, that present within the 1st hour of birth.
Partial obstruction of some airways may lead to pneumothorax or pneumomediastinum.
Patchy infiltrates, coarse streaking of both lung fields, increased anteroposterior diameter, and
flattening of the diaphragm characterize the typical chest-x ray


In neonates classically presents as periods of apnea, pallor or cyanosis, poor suckling, abnormal eye
signs, high-pitched, shrill cry, muscular twitching, convulsions, decreased muscle tone or paralysis,
metabolic acidosis, shock, and a decreased hematocrit.
The fontanel may be tense and bulging.
The condition is rarely present at birth and is diagnosed on the basis of the history, clinical
manifestations, and trans-fontanel cranial (CT).


is defined as the first episode of wheezing associated with an upper respiratory tract infection.
The infection is usually caused by respiratory syncytial virus.
It affects 50% of children in the 1st 2 years of life, especially those who are prone to airway reactivity,
& there is increased incidence of asthma later in life.
The WBC count is normal, and the chest x-ray may show air trapping or atelectasis.
The treatment is supportive care with humidified oxygen and bronchodilators.
Ribavirin may be administered in high- risk children.








Septic arthritis can occur following skin or upper respiratory tract infections.
Arthrocentesis is both diagnostic and therapeutic, and is mandatory in all suspected cases.
Blood cultures and synovial fluid cultures must be obtained prior to administering the antibiotics.
Empiric antibiotic therapy ( IV nafcill in or IV cefazolin) should be started with pending synovial fluid


Presents with equinus and varus of the calcaneum and talus, varus of the midfoot, and adduction of
the forefoot.
This is a common foot deformity and may be congenital, teratologic, or positional (in utro).
Initial treatment involves, stretching and manipulation of the foot, followed by serial plaster casts,
malleable splints, or taping.
Because conservative treatment corrects the majority of cases, so Surgical treatment is indicated if
conservative management gives unsatisfactory results, and is preferably performed between 3 and 6
months of age.
Remember that the treatment of clubfoot should be started immediately.


Is a developmental disorder characterized by a forward slip of vertebrae (usually L5 over S1 ) that

usually manifests in preadolescent children.
In the typical clinical scenario, back pain, neurologic dysfunction (e g , urinary incontinence), and a
palpable "step-off" at the lumbosacral area are present if the disease is severe.


patients with coagulopathies (Hemophilia) --> Recurrent hemarthroses may then lead to a joint injury
called "hemophilic arthropathy".
Although the exact mechanism underlying the joint damage is not known, iron deposition and synovial
thickening with fibrosis are characteristic.
Iron deposition and cytokines released from the blood stimulate synovial proliferation, fibrosis and
cartilage injury.





Common in children between the ages of two and twelve.

It is usually poorly localized and common in the legs below the knees and bilateral.
It awakens the child at night and responds to reassurance, massages or analgesics.
In all cases, it resolves in the morning.
The diagnosis of growing pain is a diagnosis of exclusion, all the physical and laboratory findings are
X- rays are not required if the physical exam is unremarkable.
All such children are observed, and parents are assured that this condition will resolve with time.


Is a frequent cause of hip pain in children, typically occurring in male children ages 3-10 years old.
The cause of transient synovitis is unknown, but the condition usually follows mild trauma or viral
Transient inflammation of the joint synovium leads to pain and decreased range of motion.
Patients usually have a history of a recent viral infection and present with a limp and/or unilateral hip
or knee pain A low grade fever may be present, but patients are generally afebrile.
On examination, the affected hip will be flexed, slightly abducted, and externally rotated, There is mild
limitation of motion.
The patient may complain of pain with palpation or passive motion.
Laboratory findings characteristic of transient synovitis include a slightly elevated white blood cell count
and erythrocyte sedimentation rate.
Four clinical criteria have been shown useful in differentiating septic arthritis from transient synovitis;
white blood cell count > 12,000/mm3; temperature > 39C (102F); erythrocyte sedimentation rate >
40 mm/h; and refusal to bear weight.
If at least three of these four criteria are met, further work-up is indicated to rule out septic arthritis.
Radiographs of the hip should be done to exclude bony lesions and Legg-Calve-Perthes disease.
Widening of the joint space or an enhanced pericapsular shadow may be seen with transient synovitis.
Additional work-up is not usually necessary, unless the diagnosis is uncertain.
Treatment consists of rest and non-steroidal anti-inflammatory medications (NSAIDs).
Most patients experience resolution of symptoms within several days, although transient synovitis may
contribute to the development of arthritis later in life.


supracondylar humerus fractures may be complicated by neurovascular injury or compartment

Compartment syndrome is characterized by severe pain, pallor, poikilothermia, paresthesias, and the
late findings of pulselessness and paralysis.
Patients with predisposing injuries should be continually monitored for the development of
compartment syndrome, particularly as swelling from the injury increases.
Initial treatment includes removal of any bandages, measurement of compartment pressures, and
emergent orthopedic evaluation for possible fasciotomy.





The United States Preventive Services Task Force (USPSTF) recommends vision screening for children aged
0-5 years, primarily to identify those with strabismus, amblyopia, and refractive errors.

Early diagnosis and treatment are being emphasized, because poor visual acuity resulting from the
above conditions may impair a child's future academic performance and self image, and may even
lead to blindness.

Lead toxicity causes microcytic anemia and permanent neurologic damage, so identification of affected patients
is desirable at an early stage.

Risk factors for environmental lead exposure include minority race or ethnicity, low socioeconomic
status, pre-1950 housing, occupational exposure from parents, and recent immigration.
The USPSTF recommends no screening for asymptomatic children aged 1-5 years at average (no)
risk of lead toxicity.

The Centers for Disease Control (CDC) recommend beginning the meningococcal vaccination series between
11-12 years.

Children who are at high risk of the disease (i.e , asplenic) may be vaccinated as early as 2 years of

The CDC recommends administering the rotavirus vaccine between 2 and 8 months.

first dose should be administered between 6 and 14 weeks of age

Rotavirus vaccination should not be initiated for infants aged 15 weeks and older.
The final dose should not be given beyond 8 months of age.


Is the earliest manifestation of vaso-occlusion in sickle cell anemia, so needs a complete workup for
previously asymptomatic sickle cell patients.
Patients usually present at the age of 6 months to 2 years with an acute onset of pain and symmetric
swelling of the hands and feet.
Although only soft tissue swelling is initially seen, fever is sometimes present.
The pathophysiology of dactylitis involves vascular necrosis of the metacarpals and metatarsals, which
may be seen on plain radiographs as osteolytic lesions.


A highly malignant tumor that is found in the lower extremity more than the upper extremity.
The most common sites are the metaphysis and diaphysis of the femur, followed by the tibia and
It is very aggressive and metastasizes early to the lungs and lymph nodes.
Patients are typically white males in their first or second decade of life.
Presents with pain and swelling for weeks or months, Erythema and warmth of the local area are
sometimes seen.
Patients may initially be diagnosed with osteomyelitis, due to the misleading presentation of intermittent
fevers, leukocytosis, anemia, and increased ESR.




But, Ewing's sarcoma is characterized radiologically with its lamellated appearance or "onion skin"
periosteal reaction.
This lesion is usually lytic, central, and accompanied by endosteal scalloping
The "onion-skin" appearance is often followed with a "moth-eaten" or mottled appearance and
extension into soft tissue.
The treatment includes surgery, radiation, and multi-drug chemotherapy.

OSTEOGENESIS IMPERFECTA: Extremely high yield question for USMLE step-1 and step-2.

An autosomal dominant disease characterized by mutations in the gene coding for type I collagen.
There are four types of (OI). All types can have joint hyperlaxity, hypotonia, wormian bones, and early
hearing loss.
Type II is the most severe form and is usually lethal within the first year of life.
Types I, III , and IV can all be further categorized by the presence or absence of dentinogenesis
Dentinogenesis imperfecta is a disorder of tooth development The teeth are usually discolored (bluish
gray or yellow-brown), translucent, and weak.
Both primary and permanent teeth are affected.
Patients with the severe type II form of this disease typically expire in utero due to multiple intrauterine
and/or perinatal fractures.
Since type I collagen is an important structural protein that is present in the skin, sclera, bone, tendon
and ligament, patients with this disorder present with multiple recurrent fractures, blue sclera, hearing
loss, joint laxity, short stature, and scoliosis.
Clinical findings include limb deformities, growth retardation, multiple fractures and blue sclerae.
Cardiac anomalies such as aortic root dilatation are not usually seen in (OI). Aortic root dilatation can
be seen in disorders such as Marfan syndrome.
Horseshoe kidneys are not a feature of (OI). Patients with Turner syndrome can have horseshoe
Patients with (OI) have normal intelligence not mental retardation.
Ash leaf macules are hypopigmented macules seen in patients with tuberous sclerosis.


Differential diagnosis for a lytic bone lesion in a child:

infectious (Brodie abscess from osteomyelitis), - endocrine (hyperparathyroid osteitis fibrosa
neoplastic (Ewing sarcoma, Langerhans cell histiocytosis, metastases) and - idiopathic
(benign bone cyst, aneurysmal bone cyst).
If there is concomitant hypercalcemia, it narrows the differential diagnosis to hyperparathyroid state
versus lytic bone neoplasm.
Parathyroid adenoma is the most common cause of primary hyperparathyroidism, and typically occurs
in patients over 50 years of age.
A lytic bone lesion is most likely occurs in children.
Langerhans cell histiocytosis (LCH, Langerhans cell granulomatosis, histiocytosis X) is known to
causes solitary, lytic, long bone lesions.
Eosinophilic granuloma, the least severe form of histiocytosis X, generally presents in children and
young adults as a solitary bone lesion.
This lesion may be painful, have overlying tender swelling, and cause pathological fractures.
Though these tumors can be locally destructive, they typically resolve spontaneously and are therefore
regarded as benign and treated conservatively.





ASEPTIC NECROSIS OF THE FEMORAL HEAD: Extremely high yield question for USMLE!!!

Osteonecrosis = A vascular necrosis. is a common complication of sickle cell disease.

It involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventual collapse
of the periarticular bone and cartilage.
The femoral head has two main sources of blood supply - ascending arteries and the foveal artery,
which lie within the ligamentum teres.
The foveal artery is patent early in life, but may become obliterated in older patients.
This explains why aseptic necrosis of the femoral head is uncommon in children.


is a common cause of knee pain, particularly in adolescent male athletes.

During early adolescence (ages 13-14 for males, and ages 10-11 for females), there are periods of
rapid growth in which the quadriceps tendon puts traction on the apophysis of the tibial tubercle where
the patellar tendon inserts.
This traction apophysitis is worsened by sports that involve repetitive running, jumping, or kneeling,
and it improves with rest.
Approximately 1/4 of affected individuals have bilateral disease.
Physical examination, there is edema and tenderness over the tibial tubercle,a firm mass can
sometimes be felt due to heterotopic bone formation.
Pain can be reproduced by extending the knee against resistance.
Radiographic findings are nonspecific: anterior soft tissue swelling, lifting of tubercle from the shaft,
and irregularity or fragmentation of the tubercle.
Treatment consists of activity restriction, stretching exercises, and non-steroidal anti-inflammatory


Clavicular fracture presents with irregularity, crepitus, and fullness over the fracture site, and decreased
movements of the arm.
Predisposing factors are shoulder dystocia, traumatic delivery, and large size of the infant.
Generally, no specific treatment is required (reassurance).


Refers to neck twisting usually due to asymmetric muscle activity.

The most common causes of acquired torticollis are upper respiratory infections, minor trauma, and
cervical lymphadenitis.
More serious causes: retropharyngeal abscess and atlantoaxial subluxation.
Cervical spine radiographs is needed in children with torticollis to ensure there is no cervical spine
fracture or dislocation, which requires extreme caution.





A congenital foot deformity, which is most frequent in first-born infants & is attributed to the molding
effect of the primigravid uterus.
Approximately 10% of patients also have an associated acetabular dysplasia; hence, careful hip
examination is required.
Metatarsus adductus is subdivided into three types:
Type I metatarsus adductus:
characterized by deformity of the feet, specifically adduction of the anterior aspect of the foot with a
convex lateral border and concave medial border.
The ankle movements are normal, and passive and active movement of the foot overcorrects the
deformity into abduction.
AP radiographs reveal mild adduction of the metatarsals at the tarsometatarsal articulation, and an
increased angle between the 1st and 2nd metatarsals.
These cases tend to spontaneously correct by themselves; therefore, treatment is not necessary
Type II metatarsus adductus:
characterized by feet that correct to the neutral position with passive and active movements; this is
managed with orthosis or corrective shoes, and sometimes plaster casts if initial treatment gives no
Type III metatarsus adductus: is characterized by rigid feet and do not correct; these are managed with
serial casts.
Surgical treatment may be required if there is significant residual metatarsus adductus in children 4
years of age.


Staphylococcus aureus is the most common cause of osteomyelitis in both infants and children.
2nd common: Group B streptococcus and Escherichia coli in infants, and Streptococcus pyogenes in
Salmonella and Staph aureus are the most common cause of osteomyelitis in patients with sickle cell
Staphylococcus epidermidis is a frequent cause of osteomyelitis associated with prosthetic devices.


Like osteomyelitis in a child, a septic joint is usually hematogenous in origin and frequently follows an
upper respiratory tract infection.
The most common organisms causing septic arthritis in children are Staphylococcus aureus and
It is characterized by severe pain, leukocytosis and an elevated ESR.
The typical patient generally refuses to walk, and keeps the affected limb externally rotated (the
external rotation position allows for maximal pus accumulation).
Ultrasound guided aspiration of the synovial fluid should be performed immediately.
The synovial fluid white cell count of more than 100,000/ul indicates a definite septic arthritis.
An x-ray is often normal.
Empiric antibiotics: in infants a combination of antistaphylococcal agent (nafcillin or vancomycin) and
third generation cephalosporin and for children over age 5 years antistaphylococcal agent (nafcillin or
vancomycin) alone is a reasonable empiric antibiotic therapy.





Septic joint in a child is a true surgical emergency and needs immediate drainage.
A delay of even 4-6 hours can lead to avascular necrosis of the femoral head.


occurs as a result of untreated Lyme infection. It is caused by Borrelia burgdorferi, a spirochete carried
by the deer ticks.
It spreads via blood to various areas of the body, including the joints.
The early symptoms are mild and are easily overlooked, arthritis is the hallmark of late disease.
It tends to involve the knee in most patients Warmth, swelling from effusion and restriction of
movements differentiate it from arthralgias, which occur early in the disease.
The first episode occurs within six months of having erythema migrans, the episodes gradually
disappear in about ten years, if left untreated.
In United States, Lyme disease is prevalent in: Connecticut, Rhode Island, New York, Pennsylvania,
New Jersey, Delaware, Maryland and Wisconsin.


is a common hip disorder seen in adolescents.

SCFE occurs when the capital femoral epiphysis displaces from the femoral neck.
Boys > girls, and the usual age is 10 to 16 years old.
Obesity is a significant risk factor, additional risk factors: hypothyroidism, panhypopituitarism, and
growth hormone deficiency or supplementation.
Children with endocrine issues are more likely to have bilateral disease and to present at an earlier
Commonly present with an insidious onset of knee or hip pain and a limp, usually without a history of
Sometimes, minor trauma can increase the pain and bring the patient to medical attention.
Patients tend to hold the hip in passive external rotation and exhibit decreased internal rotation,
abduction, and flexion.
Diagnosis is made with plain radiographs of the hip (AP and frog leg lateral views), which show the
posteriorly and inferiorly displaced femoral head.
Treatment: emergent orthopedic consultation and surgical fixation at the current degree of slippage to
avoid the risk of avascular necrosis.


are the most common fractures in the pediatric population.

The most common complication is entrapment of the brachial artery, resulting in loss of the radial artery
pulse. therefore, all patients with a supracondylar fracture must have their radial pulse checked.
After reduction of the fracture, the radial pulse must be reassessed.





should be suspected in a child under the age of 5 who presents with proximal muscle weakness
(difficulty climbing stairs),
Gower's sign (use his hands to "walk up" his legs in order to assume an upright position), diminished
reflexes, and pseudohypertrophy of the calf muscles.
Mental retardation.
Serum CK (and aldolase) levels are used for screening the muscular dystrophies.
Muscle biopsy can confirm the diagnosis in most cases.
The gold standard is genetic studies, which is required in atypical cases.
Prognosis: most of patients are wheelchair bound by age of 12 years.


Similar to Duchenne muscular dystrophy but:

After age of 5 years (usually around 12 y).
Milder than Duchenne muscular dystrophy.
Caulf pain with exercise.
Normal or near normal mentality.
Prognosis: patients are able to walk until early childhood.


occurs when infants or children are lifted or pulled by the hand or arm.
This pulling injury occurs when the radial head slips through parts of the annular ligament.
The child typically keeps the hand in a pronated position, and refuses (cries out in pain) attempted
forearm supination
Rotating the hand and forearm to a supinated position with pressure over the radial head usually
reduces the annular ligament with an audible click, and restores full, normal use of the extremity.
The response to reduction of the displaced ligament is diagnostic.








Diagnosis Congenital abdominal wall defects can be made antenatally with maternal serum-AFP
measurements and ultrasonography.
The two types of abdominal wall defects are described in the table below:


Bowel protrudes through a defect on the right side of the umbilical cord.
Bowel is not covered by a protective membrane.
Bowel looks "angry" and matted.
Not typically associated with any other abnormalities outside the GI tract.
If the diagnosis was made antenatally, management would begin with planned spontaneous vaginal
delivery at a tertiary neonatal surgical unit,
Caesarean section is performed only in the presence of the usual obstetric indications.
After delivery, the next step in management is to immediately wrap the exposed bowel with sterile
saline dressings and
Cover with plastic wrap in order to prevent insensible heat and large fluid losses.
The neonate is then maintained in a thermo-neutral environment.
Further steps in the management of gastroschisis include inserting an orogastric tube (to decompress
the stomach), establishing peripheral intravenous access (to provide fluids), and administration of
broad-spectrum antibiotics.
Definitive treatment is surgical; however, surgery should be preceded by the above measures.
Primary closure is successful in 70% of neonates, but if it is unsuccessful, staged closure with Silastic
silo can be used.


Intra-abdominal contents protrude through the umbilical ring The abdominal herniation usually includes
small bowel and may include large bowel and liver.
Bowel is covered by an amnioperitoneal membrane.
Can be associated with other congenital abnormalities ( e g , heart, kidney).
The management of omphalocele is similar to that of gastroschisis:
Delivery is also planned at a tertiary care center, and caesarean section is reserved for the usual
obstetric indications, (This is based on the lack of evidence that caesarean delivery improves the
outcome of patients with uncomplicated omphalocele ).
Immediate care of the newborn with omphalocele also involves, sterile wrapping of the bowel, insertion
of an orogastric tube, stabilizing the airway (to ensure adequate ventilation), and establishing
peripheral intravenous access.
Small defects (< 2 cm) can be repaired with primary closure, but most defects will require a staged
procedure with Silastic silo.





Is due to an imperfect closure or weakness of the umbilical ring, it is especially common in low birth
weight, female, and black infants.
It appears as a soft swelling covered by skin that protrudes during crying, coughing or straining, and
can be reduced easily through the fibrous ring at the umbilicus.
The hernia consists of omentum or portions of the small intestine.
Most umbilical hernias disappear spontaneously by 1 year of age.
Surgery is advised if the hernia persists to the age of 3-4 years, exceeds 2 cm in diameter, causes
symptoms, becomes strangulated, or progressively enlarges after the age of 1 to 2 years.


Suspect necrotizing enterocolitis in any preterm or low birth weight infant with fever, vomiting,
abdominal distension, bloody diarrhea, leukocytosis & pneumatosis intestinalis.
These symptoms usually occur after the introduction of formula feeding.
The radiologic finding of pneumatosis intestinalis (i.e. intramural air) in infants is diagnostic.
Increased gastric residual volume in a preterm neonate is highly suspicious for necrotizing enterocolitis.
The condition usually presents at 3-10 days after birth, and is due to bowel wall injury resulting from
perinatal asphyxia.
Preterm neonates are at high risk for other complications such as hyaline membrane disease, which
presents with respiratory distress and ground glass appearance of the lungs on chest x- rays.


Trachea-esophageal fistula: presents with excessive drooling, choking, coughing, and cyanosis due to
aspiration of feedings.
Duodenal atresia: Bilious vomiting without abdominal distention is the cardinal sign for duodenal
Meconium aspiration syndrome: Clinical features of meconium aspiration syndrome include thick,
greenish amniotic fluid in the mouth and throat at birth, accompanied by cyanosis and respiratory
Pyloric stenosis is characterized by projectile nonbilious vomiting and palpation of an olive-shaped
mass immediately after the infant has vomited.


The presence of dermatitis herpetiformis and chronic non-bloody diarrhea in a child of 12-15 months
is suggestive of celiac disease.
The child has Kwashiorkor-like clinical features associated with dermatitis herpetiformis (erythematous
vesicles symmetrically distributed over the extensor surfaces of elbows and knees).
This scenario is suggestive of celiac disease, which is also called gluten-sensitive enteropathy.
It is due to abnormal hypersensitivity to gluten and presents characteristically at 12-15 months of age,
when gluten-containing foods such as wheat, rye or barley are introduced into the child's diet.






Is a common congenital anomaly typical presentation is non-bilious projectile vomiting which gradually
becomes more frequent and forceful in a 4-8 week old infant Pertinent physical findings are a palpable
abdominal mass and visible peristaltic waves in the upper abdomen.
Hypokalemic alkalosis occurs due to the frequent episodes of vomiting.
Abdominal ultrasound is the most useful tool for confirming the diagnosis, and shows a thick
hypoechogenic ring in the pyloric region.
Additionally, the loss of large volumes of fluid via vomiting leads to contraction alkalosis due to the
action of aldosterone.
In order to compensate for the metabolic alkalosis, the respiratory system responds via hypoventilation
to create a secondary respiratory acidosis. i.e. have a primary metabolic alkalosis with respiratory
This is characterized by a plasma pH greater than 7.45, PaC02 greater than 40 mm Hg and HC03greater than 24 mEq/L.
Pyloric stenosis is treated surgically; however, surgery should be undertaken only after the infant's
hydration status and electrolyte levels have been stabilized.


Typically presents with painless melena in 2 to 3-year-old children.

It is present in 2-3% of the population, and is the most common anomaly of the GIT.
It results from the failure of the vitelline duct to obliterate during the fetal development.
Heterotropic gastric tissue may be present in the diverticulum, which results in ulcerations and
The diagnosis of a Meckel's diverticulum is best made with technetium-99m pertechnetate scanning
(uptake by heterotopic gastric mucosa).


Peptic ulcer disease may present in preschool children with epigastric pain related to meals with a
positive family history.
Anal fissure is a painful condition associated with constipation it may occur in infancy, and presents
with blood streaked stools.
Intussusception may present in an infant or a young child with irritability, vomiting, red currant-jelly
stools and abdominal mass.
Inflammatory bowel disease may present in preschool children with diarrhea, abdominal pain, lowgrade fever and malaise.


a congenital abnormality of the biliary ducts characterized by the dilatation of intra or extra-hepatic
biliary ducts or both.
It has a multifactorial origin, but most of the cases are related to an anomalous pancreaticobiliary
junction, which leads to weakness and dilatation of the biliary wall due to the reflux of alkaline
pancreatic secretions into the biliary tree.
Various types of choledochal cysts are:
Type 1: Most common type, features the dilatation of the entire common hepatic and common
bile ducts or segments of each.
Type 2: Relative isolated protrusions or diverticulae from the common bile duct wall.





Type 3: Cyst found in the intraduodenal part of common bile duct

Type 4: Multiple dilatations in the intra and extra hepatic biliary tree.
Type 5: Isolated dilatation of intrahepatic bile ducts.
Caroli's syndrome is a congenital disorder characterized by intrahepatic dilatation of bile


is a complication of acute or chronic pancreatitis characterized by retroperitoneal/epigastric mass and

high amylase.
However, it will rarely cause a right upper quadrant mass and very mild jaundice by compressing the
common bile duct.
It is easily diagnosed by ultrasonogram.


It can occur anywhere from the duodenum to the colon.

Jejunal atresia is thought to occur due to an intrauterine vascular accident that causes necrosis and
resorption of a segment of bowel.
The severity of the obstruction can vary from a membranous web to full atresia and loss of bowel
Prenatal ultrasounds can diagnose intestinal atresia.
If not discovered prenatally, the infant will develop vomiting and abdominal distention along with
feeding intolerance shortly after birth.
Duodenal atresia appears as a "double bubble" on radiography.
Jejunal atresia presents as a "triple bubble" on radiographs, indicating dilation of a larger amount of
small bowel than that seen in duodenal atresia.
Treatment should initially be focused on resuscitation and stabilization of the patient, followed by
surgical correction.
Duodenal atresia usually presents with bilious vomiting a few hours after the first feeding.
It is usually associated with other congenital anomalies, and can be a feature of Down's syndrome.


usually presents in a child less than one month old with bilious vomiting, abdominal distension and
passage of bloodstained stools.
Volvulus is associated with malrotation of the gut, and can be complicated by perforation and


is the most common cause of intestinal obstruction in the first two years of life.
The classic presentation: is an infant with colicky abdominal pain, vomiting, and red currant jelly stools.
The currant jelly stools are caused by bowel ischemia, which leads to bleeding and mucus production.
Between episodes of abdominal pain, the child appears well.





On physical examination, the abdomen is usually soft, nontender, and nondistended, A sausageshaped mass is often palpated.
An abdominal radiograph may show air fluid levels due to obstruction.
An ultrasound commonly shows a targetoid lesion in which one bowel segment is nested inside another
bowel segment.
An air contrast enema is both diagnostic and therapeutic in the majority of cases.
Emergent laparotomy is indicated for the treatment of intussusception when air contrast enema is
However, laparotomy becomes the treatment of choice if the child presents with peritoneal signs.
The most common type of intussusception is ileocolic.


usually presents with failure to pass meconium within the first 24 hours.
In this disease, an aganglionic segment of the colon causes the intestinal obstruction.


Recurrent self-limiting episodes of vomiting and nausea in children in the absence of any apparent
The etiology of this condition is unclear; however, its incidence is high in children whose parents have
a history of migraine headaches.
Complications that may arise from the condition are anemia and dehydration.
Treatment consists of anti-emetics and reassurance of the parents.


The child typically has frequent vomiting, but maintains adequate weight gain.
Symptoms usually begin in the first few months of life, peak around 4 months, and generally resolve
by 1 year
Conservative therapy is first-line management in these infants, and make sure that the feedings are
the appropriate volume and are given at regular intervals.
Breast milk or formula can be thickened with rice cereal, which can decrease the frequency of vomiting.
The infant should also be positioned to help decrease intraabdominal pressure by keeping the child's
head elevated or laying the child prone when awake.
Parents should be reassured that most children will have resolution of their symptoms by 12 months.
If infants develop respiratory symptoms due to GERO such as stridor, apnea, or failure to thrive, a
more detailed evaluation is necessary including an upper gastrointestinal series, pH probe monitoring,
or endoscopy.
These children may require pharmacotherapy if conservative treatments do not improve their




. N.B:

Batteries lodged in the esophagus on x-ray should be removed immediately under endoscopic
guidance to prevent mucosal damage and esophageal ulceration.
Batteries located distal to the esophagus pass uneventfully in most cases and need only to
be observed with stool examination and/or follow up x-rays to confirm excretion.


Caused by a toxin released from Escherichia coli.

The toxin enters the systemic circulation and injures the endothelial cells in the kidney.
When there is progressive elevation of BUN and creatinine, the chances for improvement of the
kidneys' function is poor.
When the kidneys are damaged, the mortality is 5-10%.


It is autosomal recessive and mainly occurs in teens.

An association between brain tumors (primarily medulloblastomas and gliomas) & FAP (Familial
Adenomatous polyposis) or HNPCC (Hereditary nonpolyposis colorectal cancer).


is autosomal dominant where colonic polyps are seen with prominent extraintestinal lesions.
Includes: desmoid tumors, sebaceous or epidermoid cysts, lipomas, osteomas (especially mandible),
supernumerary teeth & juvenile nasopharyngeal angiofibroma.


An autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in

association with mucocutaneous melanocytic macules.


The most common esophageal anomaly is esophageal atresia with a tracheoesophageal fistula.
This is characterized by an atretic esophageal pouch that communicates distally with the trachea just
above the carina.
This anatomic arrangement allows air to enter the stomach, and this leads to gastric distention.
The discontinuous esophagus prevents the infant from completely swallowing, thereby resulting in
drooling or regurgitation during feeding.
In addition, gastric fluid ascends into the distal esophagus through the fistula, into the trachea and
lungs, thereby producing aspiration pneumonia Pneumonitis and atelectasis occur frequently, and
rattles are heard during breathing.
The inability to pass a feeding tube into the stomach is suggestive of esophageal atresia with or without
tracheoesophageal fistula.






is defined as excessive crying in an otherwise healthy infant for more than 3 hours a day, more than 3
days a week, and more than 3 weeks in a month.
Colic usually presents within the 1st 3 weeks of life and resolves spontaneously by four months of age.
Most parents report that the crying occurs at the same time of day, typically in the early evening.
The crying begins suddenly, and the child generally cannot be comforted.
The cause of colic is not known, it maybe due to a digestive tract origin (eg, trapped gas) leading to
abdominal pain.
Because the etiology is not known, there is no accepted treatment (resolves spontaneously by four
months of age).
Proposed treatments: soothing measures, simethicone (which decreases the surface tension of gas
bubbles), or probiotics.


The first step is immediate placement of an orogastric tube & connecting it to a continuous suction, to
prevent bowel distension and further lung compression.
Endotracheal intubation and mechanical ventilation are also priorities for all infants with severe CDH
who present in the first hours of life.





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 pink.

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/ Activity:
1 some flexion of extremities
2 active flexion of extremities.

0 completely absent
1 slow and irregular
2 good respiratory effort.


The protein in human milk is 70% whey and 30% casein, and the protein content is highest at birth and
decreases over the first month of life.
Whey is more easily digested than casein and helps to (improve gastric emptying).
Human milk also contains lactoferrin, lysozyme, and secretory immunoglobulin A proteins that confer
improved immunity to the infant.
The main carbohydrate in both human milk and standard infant formulas is lactose.





Although calcium and phosphorus content is significantly lower in human milk when compared to
formula, these minerals are better absorbed from human milk.
Breast milk has an inadequate supply of vitamin D and exclusively breast-fed infants must receive
supplemented vitamin D.


Advantages of breast feeding:

It confers protection against infections such as meningitis, bacteremia, necrotizing enterocolitis,
diarrheal illnesses, otitis media, and respiratory infections.
Mothers who breastfeed also benefit by having decreased postpartum bleeding, more rapid uterine
involution, decreased menstrual blood loss, increased child spacing, earlier return to pre-pregnancy
weight, and decreased risk of breast and ovarian cancer.

contraindications to breastfeeding:
Infants with certain inborn errors of metabolism such as galactosemia, phenylketonuria, and urea cycle
Other contraindications: maternal use of certain medications such as radioactive isotopes,
antimetabolites, and chemotherapeutic agents.
Mothers using drugs of abuse should be counseled to quit using these drugs and should not breastfeed
if they are continuing to abuse drugs.
Breastfeeding is also contraindicated with some maternal infections including herpes simplex (if there
are lesions on the breast), active tuberculosis, and HIV.
Tobacco smoking, hepatitis C infection, mastitis nor maternal alcohol use.


Group B streptococcus is the most common cause of neonatal sepsis, it is part of the normal vaginal
flora of women and is transmitted to infants during passage th rough the birth canal.
In neonates, infection presents either as early-onset sepsis or late-onset sepsis.
Early sepsis presents within the first week of life and usually involves several organs Symptoms
Respiratory failure, meningitis, DIC, acute tubular necrosis and peripheral gangrene.
It is usually refractory to therapy and quickly evolves to shock, coma and death.
Late-onset GBS infection is usually a focal infection, most frequently meningitis (75%), although
arthritis, osteomyelitis, cellulitis and urinary tract infection may also occur.
Meningitis presents with fever, lethargy, poor feeding, hypotonia, seizures and a bulging fontanel.
The diagnosis is confirmed by positive blood or cerebrospinal fluid cultures, although all newborns with
fever and sepsis should have full workup for sepsis, including urine cultures.
If the mother has already received antibiotics, culture results may be negative and a latex agglutination
test may be more helpful.


Escherichia coli meningitis is less frequent than GBS meningitis It is the second most common cause
of neonatal meningitis.
Listeria is the third most common cause of neonatal meningitis It also tends to result in multiple
abscesses and pneumonia, in addition to meningitis.




hepatosplenomegaly and chorioretinitis.
Herpes simplex virus encephalitis usually presents with focal neurologic signs. Herpes involves
temporal lobes, so patients may present with seizures.


Sepsis in the neonate often presents with fever or hypothermia, jaundice, lethargy, and poor feeding.
Infants with a serious bacterial infection such as meningitis rarely present with classic findings such as
neck stiffness or Kernig's or Brudzinski's signs.
As a result, all infants with a suspected diagnosis of sepsis should be evaluated with blood cultures
and a lumbar puncture
Jaundice in the newborn has a broad list of differential diagnoses including sepsis, breast milk jaundice,
and breastfeeding jaundice.

N.B: Breast milk jaundice:

Temporary cessation of breastfeeding is the most appropriate next step in an infant with suspected
breast milk jaundice.
Breast milk jaundice, which is a caused by a factor in human breast milk, results from increased
intestinal absorption of bilirubin and generally peaks around two weeks of age.
Liver function tests (Albumin, AST, ALT, alklaline phopshatase) should be obtained in infants with a
direct or conjugated hyperbilirubinemia, to assess for conditions such as biliary atresia.


Suspected in infant with vomiting, bloody diarrhea, RBCs and eosinophils in stool, and there may be a
family history of an atopic disorder.
It is a hypersensitivity reaction to cow's milk proteins, and therefore usually occurs in babies who are
fed with cow's milk; however, it may occur in breastfed babies, as the mother's milk may contain
proteins from ingested cow's milk.


viral gastroenteritis: the associated diarrhea is usually non-bloody.

Meckel's diverticulum typically presents as painless melena in a child who is approximately 2
years of age.
Hirschsprung's disease may present with failure to pass meconium within the first 24 hours
of life and/or failure to thrive.

.N.B.: HIV testing in pregnant females:


It should be done to all pregnant women in the first trimester to prevent possible transmission
to the infant.
Persistent oral thrush, lymphadenopathy and hepatosplenomegaly & maybe intractable
diarrhea, refractory infections and failure to thrive the presenting symptoms.
In neonates, serologic testing is not useful for HIV diagnosis because of the passage of
maternal antibodies to the fetal circulation through the placenta.
PCR, viral culture and p24 antigen testing are more appropriate; HIV infection is confirmed if
at least two of these tests are positive.






Certain active maternal infections (HIV, tuberculosis, herpes simplex lesions on or near the
nipple, malaria, sepsis, typhoid fever),
Eclampsia, nephritis, substance abuse, and breast cancer.
Transmission of HIV by breastfeeding is well documented; therefore, the presence of maternal
HIV infection is a contraindication to breastfeeding.

N.B.: Situations that are not a contraindication to breastfeeding:

Mastitis --> we encourage breastfeeding since this prevents engorgement, along with other subsequent
symptoms such as fissures and cracking of the nipple.
Maternal rubella infection --> there is currently insufficient evidence regarding the associated risks.
Breast milk jaundice --> Mothers of such infants are instructed to switch their babies to formula-feeding
for 1-2 days.
This allows the increased indirect bilirubin levels of the infant to return to normal values. After 2 days,
the mother resumes breastfeeding, and further hyperbilirubinemia usually does not recur.
Hemolytic disease of the newborn (erythroblastosis fetalis) --> breastfeeding because antibodies in the
mother's milk are inactivated in the intestinal tract and do not contribute to further hemolysis of the
infant's RBCs.


usually presents after 24- 36 hours of birth.

The pathophysiology involves a combination of increased bilirubin production, decreased bilirubin
clearance, and increased enterohepatic circulation.


Breastfeeding jaundice is an exaggeration of physiologic jaundice caused by the relative dehydration

that can occur in breastfed infants in the first week of life.
Breastfed infants usually breastfeed for about 15-20 minutes on each breast, 8 times/day, make about
4-6 wet diapers/day mixed with 8-12 stools/day, & lose 10% of their birth weight in the first week.
Ineffective breastfeeding in the first few days of life causes inadequate enteral intake, prolongs the
intestinal transit time, and leads to increased absorption of unconjugated bilirubin through
enterohepatic circulation.
The infant can also become relatively dehydrated from the limited fluid intake and lose more than the
expected 10% of the birth weight in the first week of life (further increases the bilirubin level).
In otherwise healthy infants, the best treatment for breastfeeding jaundice is to increase the frequency
and duration of feedings to stimulate more milk production.
As the milk production increases, the infant will become more hydrated, and the bilirubin level will





a sphingolipidosis due to a deficiency in sphingomyelinase (Niemann-Pick's disease); characterized

by cherry red macula, protruding abdomen,
hepatosplenomegaly, lymphadenopathy, and regression of developmental milestones.
Sphingomyelin accumulates in the reticuloendothelial cells of liver, spleen, bone marrow and

Sphingolipidosis due to a deficiency in hexosaminidase A is known as Tay-Sachs'disease.

It is characterized by hyperacusis, mental retardation, seizures, cherry red macula, but not
hepatosplenomegaly or cervical lymphadenopathy.

Sphingolipidosis due to a deficiency in glucocerebrosidase is known as Gaucher's disease.

It is characterized by hepatosplenomegaly, anemia, leucopoenia and thrombocytopenia, but
not cherry red macula.

Sphingolipidosis due to a deficiency in galactocerebrosidase is known as Krabbe's disease.

It is characterized by hyperacusis, irritability and seizures.

Mucopolysaccharidoses are characterized by coarse facial features, hydrocephalus and umbilical



Is generally seen in infants born to unimmunized mothers, frequently following umbilical stump
Affected infants initially present in the first two weeks of life with poor suckling and fatigue, followed by
rigidity, spasms and opisthotonus.


The classic description (ie , well-demarcated, flat blue/gray lesion on the sacral or presacral area) of a
Mongolian spot.
This lesion is seen more commonly in dark skinned children.
It is caused by entrapment of melanin-containing melanocytes during their migration from the neural
crest into the epidermis in fetal development. and usually disappears in the first few years of life, most
cases do not require any treatment.
Mostly located at the base of the spine, lower back, and buttocks, it can also be seen in other parts
such as the shoulders, arms, wrists, legs, ankles or abdomen.
The face, palms and soles are usually spared

Cafe-au-lait spots are well-demarcated, tan or light brown flat lesions that can vary in number, size, and

This finding may indicate neurofibromatosis if the diameter is larger than 0.5 mm and if more than 5
lesions are found.





Cutis Marmorata appears as a lace-like pattern on the skin in response to cold or stress.

It can persist in some diseases such as Down's syndrome and trisomy 18.

Salmon Patch is a flat salmon-colored lesion commonly seen over the glabella, eyelids, and neck.

It is a vascular lesion that usually disappears in early childhood.

Indications of the evaluation of neonatal jaundice include:


Conjugated hyperbilirubinemia (> 2 mg/dL)

Jaundice that appears in the first 24 - 36 hours of life.
Serum bilirubin rising at a rate faster than 5 mg/dl/24 hours.
Serum bilirubin greater than 12 mg/dl in full-term (especially in the absence of risk factors) or
10 - 14 mg/dl in preterm infants.
Jaundice persists after 10 -14 days of life.
The presence of signs or symptoms.

N.B.: Conjugated hyperbilirubinemia (> 2 mg/dL):


Association with light colored stools, hepatomegaly, and direct (conjugated)

Is indicative of neonatal cholestasis and impaired hepatic excretion of bilirubin, either by
extrahepatic obstruction or liver cell injury.
With conjugated neonatal hyperbilirubinemia, priority should be given to conditions that
require prompt diagnosis and treatment, such as : sepsis, endocrinopathy (hypothyroidism).
and nutritional hepatotoxicity caused by metabolic diseases (galactosemia, tyrosinemia).
After these diagnoses are ruled out, the final step is to differentiate biliary atresia from
neonatal hepatitis.


Appears in the second week of life; however, the hyperbilirubinemia is indirect (unconjugated).
The unconjugated bilirubin levels may rise as high as 10-30 mg/dl Levels drop rapidly as soon as
breastfeeding is stopped, and the infant is given milk formula for 1-2 days.
After 2-3 days the breastfeeding can be resumed, and usually there is no return of the
Although it is a benign condition in some instances, phototherapy may be indicated.


Consists of moderate unconjugated hyperbilirubinemia (< 12-14 mg/dL) appears after the first 24 hours
of life and resolves before the end of the first week.
It is a benign condition and is more common in preterm infants, infants of diabetic mothers, and infants
of Asian or Native American descent.





Are inherited deficiencies of UDP-glucuronyl transferase that result in unconjugated

In Gilbert's syndrome, the deficiency is mild, and patients are asymptomatic due to the mild indirect
In Crigler-Najjar syndrome, the enzyme is absent; patients present early in life, and die within their first
few years.


is characterized by unconjugated hyperbilirubinemia and anemia.

The diagnosis is suggested by a positive Coombs' test.


Early neonatal care in an uncomplicated pregnancy include: initial physical assessment, removal of
airway secretions, drying the infant & keeping him warm, & early preventive measures (gonococcal
ophthalmia prevention, vitamin K supplementation).









It is very important to differentiate between precocious puberty that is caused by premature activation
of the hypothalamus-pituitary-gonad (HPG) axis, and precocious pseudo-puberty that is caused by a
gonadotropin-independent process, typically an excess of sex steroids.
In case of precocious pseudo-puberty: there is signs of severe androgen excess (i. e. severe cystic
acne, significant growth acceleration) which suggests precocious pseudo-puberty It can be caused by
late-onset congenital adrenal hyperplasia (21-hydroxylase deficiency).
Hypothalamic dysfunction leading to precocious puberty is usually less dramatic in presentation
Sequential development of testicular enlargement, penis enlargement, pubic hair growth, and then
growth spurt is typically present.
Severe hypothyroidism is a rare cause of precocious puberty, and is characterized by slowing (not
acceleration) of growth.
Klinefelter's syndrome may present with a height that is higher than normal, but signs of androgen
excess are not typical.
47, XYY karyotype may manifest as severe acne, but precocious puberty is not characteristic.

PREMATURE ADRENARCHE: Extremely high yield question for USMLE

characterized by the isolated appearance of axillary hair before the age of six years.
This change results from premature androgen secretion of the adrenal glands.
The condition is generally benign and has no clinical significance.
On the other hand, premature pubarche (pubic hair growth before the age of 8 years) is more alarming,
as it is associated in 50% of cases with a CNS disorder.


Congenital adrenal hyperplasia (CAH): is a group of syndromes characterized by a deficiency in one

of the enzymes responsible for steroid synthesis.
The most common syndrome is 21-hydroxylase deficiency, which results in excess 17-alphahydroxyprogesterone metabolite that is shunted to androgen, thereby resulting in hirsutism or virilism.
This deficiency also leads to a decreased production of mineralocorticoids and glucocorticoids, and
consequent hyponatremia and hyperkalemia.
Complete deficiencies can present at birth with ambiguous genitalia, salt wasting and dehydration.
In partial deficiencies, patients usually present during puberty or adulthood with virilism, which may or
may not be associated with salt wasting.
The diagnosis is suggested by increased levels of 17-alpha-hydroxyprogesterone and confirmed with
ACTH stimulation test.
Adolescent onset of hirsutism and virilism, with normal menstruations and elevated 17hydroxyprogesterone, are diagnostic of congenital adrenal hyperplasia.





Thyroid dysgenesis is the most common cause of congenital hypothyroidism in United States.
Iodine deficiency or endemic goiter is the most common cause of congenital hypothyroidism worldwide,
but is essentially not seen in the United States.


Mammary gland enlargement and non-purulent vaginal discharge are common findings in newborn
These are transitory physiologic events due to infant's physiologic target-organ response to
transplacentally acquired maternal hormones (estrogens).
Therefore, such infants only require observation and routine care.


The most common cause of primary amenorrhea is Turner syndrome, a 45,XO karyotype chromosomal
It may also result from anatomic abnormalities (imperforate hymen, absent uterus),
hypothalamic/pituitary dysfunction, hyperandrogenism or pseudohermaphroditism.
Turner syndrome is 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, though at least
1/5 of patients will have a normal puberty followed by early menopause.
The decreased femoral pulses may indicate aortic coarctation, which occurs in approximately 10% of
patients with Turner syndrome.
This clinical diagnosis should be confirmed by karyotype analysis.


A progesterone challenge: is used in the diagnostic evaluation of amenorrhea in patients with

both a uterus and normally developed breasts.
Hyperprolactinemia can cause secondary amenorrhea as prolactin decreases GnRH
production and release.
17-hydroxyprogesterone measurement is indicated when congenital adrenal hyperplasia is
suspected as a possible cause of primary amenorrhea.
Serum 17-0H progesterone is elevated in 21- and 11-hydroxylase deficiencies and is
decreased in 17-hydroxylase deficiency


is a rare condition characterized by precocious puberty, cafe au lait spots and multiple bone defects
(polyostotic fibrous dysplasia).
It is responsible for 5% of the cases of female precocious puberty, and may be associated with other
endocrine disorders, such as hyperthyroidism, prolactin- or GH-secreting pituitary adenomas, and
adrenal hypercortisolism.
McCune-Albright syndrome is sporadic and has been recently attributed to a defect in the G-protein
cAMP-kinase function in the affected tissue, thereby resulting in autonomous activity of that tissue.
Remember the 3 P's of McCune-Albright syndrome precocious puberty, pigmentation (cafe au lait
spots) and polyostotic fibrous dysplasia.





.N.B.: Adrenal tumors result most commonly in heterosexual precocious puberty (i.e , premature development
of male secondary sexual characteristics in a female).


Is due to 5p deletion and presents as a cat-like cry.

Also hypotonia, short stature, microcephaly with protruding metopic suture, moonlike face,
hypertelorism, bilateral epicanthal folds, high arched palate, wide and flat nasal bridge, and mental


Is due to the deficient activity of the lysosomal enzyme, acid beta-glucosidase.

The typical patient is an Ashkenazi Jewish adolescent with chronic fatigue,easy bruisability, bone pain,
and pathological fractures.
Diagnosis is confirmed with radiologic (Erlenmeyer flask deformity of the distal femur) and bone marrow
studies (Gaucher cells with wrinkled paper appearance).


Types A and B result from the deficient activity of sphingomyelinase. this is a fatal disorder of infancy
Clinical manifestations include failure to thrive, hepatosplenomegaly, and a rapidly progressive
neurodegenerative course that eventually leads to death by age 2-3 years.


The exact cause is unknown, but sometimes associated with duplication of chromosome 11 p.
This region contains the gene encoding for IGF-2, which may explain the macrosomia.
Present with macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycemia,
hyperinsulinemia, prominent eyes, prominent occiput, ear creases & pancreatic hyperplasia.
It is usually sporadic, but occasional cases have familial inheritance.
Sometimes, the hypoglycemia may be severe and intractable, and subtotal pancreatectomy may be
Patients have an increased risk of neoplasms such as Wilms' tumor, hepatoblastoma, and


Is secondary to a deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT).

Symptoms: self-mutilation (self-injury, especially biting of the upper extremities), neurologic features
(mental retardation, dystonia, choreoathetosis, spasticity).
Gouty arthritis, and tophus formation.
Gout is usually seen in patients above 50 years of age; therefore, suspect Lesch-Nyhan syndrome if
you see a boy with gout.




All victims of Lesch-Nyhan syndrome are male.


Is a sporadic disorder, in 50-70 % of cases, there is a deletion in the long arm of chromosome 15.
PWS displays a particular type of genetic transmission called genomic imprinting, wherein the
phenotype expression depends on whether the genetic defect is inherited from the mother or the father
presentation: severe hypotonia at birth or infancy, hyperphagia, obesity, short stature and mental
The typical craniofacial features are narrow bifrontal diameter, diamond-shaped eyes and a small,
down-turned mouth.
Hypothalamic dysfunctions (GH deficiency and hypogonadotropic hypogonadism) may be present.
The associated short stature, obesity and hypotonia usually respond to GH administration; however,
the implication of GH deficiency accompanying PWS in the development of these features is still


If you see a vignette with a child that is >2-years-old, it is unlikely that the diagnosis is Patau's
or Edward's syndrome.


Important differ. diag. of Beckwith-Wiedemann syndrome; but here infants do not present with
dysmorphic features as omphalocele, prominent occiput & macroglossia.
Moreover, the prenatal and birth histories of the patient maternal D.M.
The common congenital problems that in an 'infant of diabetic mother:
Caudal regression syndrome
Transposition of great vessels.
Duodenal atresia and small left colon.
Anencephaly and neural tube defects.


Characterized by Wilms' tumor, aniridia, genitourinary anomaly and mental retardation.

It is related to a deletion in chromosome 11 involving the gene WT1. (Wilms' Tumor 1 gene) and aniridia
gene PAX6.


Is a metabolic disorder caused by galactose-1-phosphate uridyl transferase deficiency, leading to

elevated blood levels of galactose.
Manifest a few days or weeks after the infant starts taking formula or breast milk.
These include liver failure (hepatomegaly, direct hyperbilirubinemia, disorders of coagulation),
abnormal renal function, emesis, anorexia, acidosis & glycosuria.
Present with: infant or newborn with failure to thrive, bilateral cataracts, jaundice and hypoglycemia.





Other common manifestations: aminoaciduria, hepatic cirrhosis, hypoglycemia, and mental retardation.
Such patients are at increased risk for E.coli neonatal sepsis.
Galactosemia is NOT a self-limiting condition.
Early diagnosis and treatment by elimination of galactose from the diet are mandatory.


an autosomal recessive disorder.

It occurs in approximately 1/10,000 births, and is more frequent in the Caucasian and Asian
Pathology: a deficiency in phenylalanine hydroxylase, that breaks down phenylalanine into tyrosine.
This deficiency leads to the accumulation of phenylalanine and its metabolic products in the blood and
body tissues (particularly in the brain).
If untreated, the defect can produce mental retardation and seizures.
The most commonly used screening test is the determination of blood phenylalanine levels.
Guthrie test, which is a qualitative (coloration) test, can also be used as it detects the presence of
metabolic products of phenylalanine in the urine.
Treatment: a low-phenylalanine diet, since little amounts of phenylalanine are still necessary for growth
and development.
Cereals, starches, fruits, vegetables, and phenylalanine-free milk formulas are recommended.
High-protein foods should be avoided.
Early diagnosis and treatment can improve the prognosis, with most (treated) patients having normal
mental development and a normal life span.


The most common cause is thyroid dysgenesis (ie , aplasia, hypoplasia, or ectopic gland).
Other causes: inborn errors of thyroxin synthesis, and transplacental maternal thyrotropin- receptor
blocking antibodies.
Infants initially appear normal at birth, but gradually develop apathy, weakness, hypotonia, large
tongue, sluggish movement, abdominal bloating & umbilical hernia.
Other signs: pathologic jaundice, difficult breathing, noisy respiration, hypothermia, and refractory
macrocytic anemia.
Infants initially appear normal due to the presence of moderate amounts of maternal hormones in the
infant's circulation.
So, screening is mandated in all states at birth to allow for the early detection, treatment, and
consequent improvement of the prognosis.
Screening is done by measuring serum T4 and TSH levels.
The treatment is levothyroxine.


Male infant with a characteristic appearance (la rge head, long face, prominent forehead and chin,
protruding ears), joint laxity, and large testes.
Behavioral abnormalities: hyperactivity, short attention span, and autism, are common.
It results from a full mutation in the FMR1 gene caused by an increased number of CGG trinucleotide
repeats accompanied by aberrant methylation of the FMR1 gene.





Presentation: short stature, short webbed neck and broad chest with widely spaced nipples and 45 XO
Other features: a low posterior hairline, gonadal dysgenesis, infertility and primary amenorrhea, which
may occur as the child grows.
A higher incidence of cardiac anomaly: coarctation of the aorta (COA) and a bicuspid aortic valve.
Physical findings of COA include upper extremity hypertension and a delay in the radial-femoral pulse.
Congestive heart failure may be seen in infants with severe cases.
The diagnosis is made with an echocardiogram and the treatment is surgery.
There is higher risk of renal abnormalities, particularly horseshoe kidney, and should have a screening
ultrasound after the diagnosis is made.
Swollen hands and feet due to congenital lymphedema, which is common in patients with Turner
syndrome due to abnormal development of the lymphatic network.
Edema that is due to lymphedema is generally nonpitting on physical exam.
Patients are prone to osteoporosis which increases the risk of bone fracture, this is due to low estrogen
levels from gonadal dysgenesis.


trisomy 18.
The features: micrognathia, microcephaly, rocker bottom feet, overlapping fingers and absent palmar
Closed fists with index finger overlapping the 3rd digit and the 5th digit overlapping the 4th, and rocker
bottom feet.
Congenital heart disease occurs in greater than 50 % of affected patients; ventricular septal defect is
the most common one.
80% of affected children die in the first month, 90% die by 1 year and remaining 5-10% are mentally


Vitamin D deficiency leads to decreased intestinal calcium absorption and hypocalcemia.

Hypocalcemia stimulates parathyroid glands & secondary hyperparathyroidism results, which brings
serum calcium to normal or near normal, especially in early stages.
Secondary hyperparathyroidism causes hypophosphatemia by increasing its urinary excretion.
Therefore, vitamin D deficiency causes more marked hypophosphatemia than hypocalcemia,
especially in early stages.
Labs show low or low-normal serum calcium, low serum phosphate, increased serum PTH, low plasma
25-OH vitamin D & normal, low or elevated 1,25 dihydroxy vitamin D (calcitriol).
In patients with Pseudohypoparathyroidism, labs show low serum calcium, high serum phosphate and
high serum PTH.
Serum alkaline phosphatase and vitamin D levels are within normal limit.
Patients with renal failure will have low serum calcium, high serum phosphate, high serum PTH (due
to secondary hyperparathyroidism) and low serum 1,25 dihydroxy vitamin D.
Patients with X-linked hypophosphatemic rickets have low serum phosphate due to renal phosphate





They have normal serum calcium, normal serum PTH and normal serum alkaline phosphatase and
normal levels of serum 25-hydroxy vitamin D.
There may also be a functional defect in the activity of 1-hydroxylase and as a result serum levels of
calcitriol may below.
In type II vitamin D dependent rickets, there is mutation of vitamin D receptor.
Therefore, these patients have normal serum levels of calcitriol but it is ineffective and as a result
osteomalacia occurs.

PUBERTAL GYNECOMASTIA: Extremely high yield question for USMLE!!!

is seen in approximately one-half of adolescent boys, at an average age of 14 years.

It is often asymmetric or transiently unilateral, and frequently tender.
In prepubertal males the testicular size is normally 2 cm in length and 3 ml in volume.
The initial management involves reassurance and watchful waiting/observation.


Patients with Down syndrome may have a wide range in severity of manifestations.
The most common congenital heart defect is an endocardial cushion defect of the atrioventricular (AV)
Other congenital heart defects: PDA & ventricular septal defect (congenital heart defects are the most
common cause of death in childhood).
AV canal defects are diagnosed with echo.
The left to right shunt due to the (AV) defect can develop into pulmonary hypertension, that manifested
as a loud P2 on auscultation & has a high morbidity.
AV canal defects may be partial or complete, but both need early surgical correction to prevent
pulmonary hypertension.
Patients with Down's syndrome have a high predilection for duodenal atresia.
Other GIT anomalies: Hirschsprung's disease, Esophageal atresia, Pyloric stenosis, Malrotation of the
Atlantoaxial instability is commonly seen in Down syndrome, and most commonly occurs due to
excessive laxity in the posterior transverse ligament, which causes increased mobility between the
atlas (C1) and the axis (C2).
Symptoms of atlantoaxial instability: behavioral changes, torticollis, urinary incontinence, and
vertebrobasilar symptoms as dizziness, vertigo, and diplopia.
Also upper motor neuron symptoms such as leg spasticity, hyperreflexia, a positive Babinski sign, and
Patients with Down syndrome are normally hypotonic, and they may remain hypotonic or have
increased tone due to atlantoaxial instability.
It is diagnosed by lateral radiographs of cervical spine in flexion, extension & in a neutral position Open
mouth radiographs can also visualize the odontoid.
Treatment: surgical fusion of the first cervical vertebrae (C1) to the second (C2).


MSF is an autosomal dominant disorder that results from the mutations of the fibrillin-1 (FBN1) gene.
It presents with tall stature, long and emaciated extremities, arachnodactyly, hypermobility of the joints,
upward lens dislocation, and aortic root dilation.





An autosomal recessive disease caused by cystathionine synthase deficiency.

Her features are characteristic of Marfan's syndrome (tall stature, long emaciated extremities,
arachnodactyly, hyperlaxity of the skin and joints).
But her clinical presentation of a stroke is highly indicative of homocystinuria.
Remember: Marfan's features + thromboembolic events = classic homocystinuria.
Thromboembolic events at any age, due to the pathologic changes in the vessel walls and increased
adhesiveness of the platelets (commonly cerebral vessels).
Lens dislocation (ectopia lentis): In Marfan's syndrome, the lens is dislocated upward, and in
homocystinuria, it is dislocated downward.
Elevation of both homocysteine and methionine in body fluids confirm the diagnosis.
The initial treatment: high doses of Vitamin B6.
Restriction of methionine along with supplementation of cysteine is used for patients not responsive to
Vitamin B6 therapy.


is also known as type I glycogen storage disease and Von-Gierkes' disease.

As its name suggests, this condition is caused by deficient glucose-6-phosphatase in the liver, kidneys,
and intestinal mucosa.
The typical patient, is 3-4 months of age with hypoglycemia, lactic acidosis, hyperuricemia, and
Hypoglycemic seizures may occur.
The characteristic features: a doll-like face (fat cheeks), thin extremities, short stature, and a
protuberant abdomen (due to the enlarged liver and kidneys).
The spleen and heart are normal.








Positive anti-Smith antibodies and/or anti-double stranded DNA antibodies is specific and confirmatory
for the diagnosis of systemic lupus erythematosus


A urine dipstick can be positive in up to 10% of school-aged children. Proteinuria in children can be
transient (intermittent), orthostatic, or persistent.
Transient proteinuria is the most common cause of proteinuria and can be caused by fever, exercise,
seizures, stress, or volume depletion.
Orthostatic proteinuria is very common in adolescent boys and is defined as increased protein when
the patient is in an upright position that returns to normal when the patient is recumbent.
If the urinalysis shows no hematuria and is otherwise normal, the urine dipstick should be repeated on
at least two additional specimens.
If these subsequent tests are negative for protein, the diagnosis is transient proteinuria that are usually
benign conditions that require no further evaluation.


are the most common congenital obstructive urethral lesion in males.

There is midline lower abdominal mass probably represents a distended bladder.
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.
A voiding cystourethrogram (VCUG) is the diagnostic test of choice.


Results from a ventral defect of the urogenital sinus, which causes separation of the pubic rami,
external rotation of the hips, and separation of the rectus abdominis muscles.
The resulting ventral midline defect allows protrusion of a malformed bladder.
This condition is associated with epispadias, recurrent urinary tract infections, and urinary





is a congenital abnormality where the penile urethra opens on the ventral surface of the penis rather
than at the tip.
It results from incomplete fusion of the urethral folds on the ventral penis.


is a tubular extension of the allantois that extends from the bladder to the umbilicus.
It is normally obliterated during fetal development A patent urachus can result in an urachal fistula, cyst
or sinus.
None of these conditions would interfere with urine drainage from the bladder.


is a focal failure of vitelline duct obliteration.

Such a vitelline cyst may cause a small midline mass deep to the umbilicus.
The cyst could be attached to the umbilicus and the wall of the ileum by vitelline remnants and may
cause small intestinal volvulus.


is a failure of one or both testes to descend from the abdomen through the inguinal canal(s) into the


Wilms tumor is usually diagnosed between the ages of two and five years.
It is the most common primary renal neoplasm of childhood.
80% of the cases have an asymptomatic abdominal mass that is usually detected by the
mother/caretaker while bathing the child.
The mass may be bilateral, symptoms may include hypertension, hematuria, abdominal pain, and
In a few cases, it may present with lung metastases.
It is associated with Beckwith-Wiedemann and Denys-Drash syndromes.
The treatment is nephrectomy.
If treated in the early stage, majority of the patients have a long-term survival.
It arises from metanephros, which is the embryologic precursor of the renal parenchyma.


Neuroblastoma, which is the most common extracranial solid tumor of childhood.

The median age at diagnosis is 2 years.





The tumor arises from neural crest cells, which are also the precursor cells of the sympathetic chains
and adrenal medulla.
For this reason, NBL may arise from the adrenal gland or any location along the paravertebral
sympathetic chains.
The most common site involved is the abdomen, either from the adrenals or retroperitoneal ganglia.
The mass is usually firm and nodular in consistency Calcifications and hemorrhages are seen on plain
x- ray and CT scan.
Up to 70 % of patients have metastatic disease at time of presentation, and the most common
metastatic sites are: long bones, skull, bone marrow, liver, L.N. & skin.
The levels of serum and urine catecholamines and their metabolites (i.e. HVA and VMA) are usually
elevated; however, patients do not present with fainting spells, sweating, palpitations and hypertension,
as in pheochromocytoma.


Is a normal anion gap metabolic acidosis caused by a defect in the ability of the renal tubules to
reabsorb bicarbonate or excrete hydrogen.
There are three types of RTA:

Type 1 or distal RTA occurs due to a defect in hydrogen ion secretion.

These patients are acidotic, hypokalemic, and have an elevated urinary pH In children, type 1 RTA is
often a genetic disorder.
Patients commonly develop nephrolithiasis.

Type 2 RTA is caused by decreased bicarbonate reabsorption in the proximal tubule. Fanconi syndrome is a
common cause in children.
Type 4 RTA is caused by a defect in the sodium/potassium exchange in the distal tubule which results in
hyperkalemic, hyperchloremic acidosis.

In children, obstructive uropathy, renal disease, or multicystic dysplastic kidneys are common causes.
Renal tubular acidosis can present as growth failure and should be considered in the differential
diagnosis for failure to thrive.
Screening labs will show a low bicarbonate level with an increase in chloride, producing a normal anion
gap metabolic acidosis.


The most common cause of nephrotic syndrome in patients younger than 16 years old.
Light microscopy and immunofluorescence does not usually reveal any change in kidney architecture.
Electron microscopy shows diffuse effacement of foot processes of podocytes.
Minimal change disease is a highly steroid-sensitive condition and is the most common cause of
nephrotic syndrome in children.
For these reasons, empiric steroid therapy is indicated in any child with a clinical presentation
suggestive of nephrotic syndrome
Steroids are the treatment of choice.






Renal biopsy is commonly used in adult patients presenting with nephrotic syndrome.
Diffuse thickening of glomerular basement membrane & subepithelial spikes are
characteristic for membranous glomerulonephritis, which is the most common cause of
nephrotic syndrome in adults, it is relatively uncommon in younger patients.
Crescent formation is a typical finding for rapidly progressive glomerulonephritis.


Common in pre-pubertal children, Present with acute or chronic vaginal discharge, foul-smelling odor,
and vaginal bleeding.
If the object is large or has sharp edges, the patient may also complain of pain.
The vaginitis produced by a foreign body can cause the child to have urinary complaints as well.
The most common vaginal foreign body found in children is toilet paper.
Other items: toys or coins that the child has placed into her vagina.
Any child with vaginal discharge should have a vaginal examination, which is usually performed by
placing the child in a knee to chest or frog-legged position.
The external genitalia should be examined as well as the vaginal introitus.
Foreign bodies can often be seen if the child is asked to valsalva during the examination.
If needed, a nasal speculum may be used.
If a foreign body is seen, irrigation with warmed fluid should be performed in an attempt to flush out the
foreign body.
If irrigation is unsuccessful, examination and foreign body removal should be done with sedation or
general anesthesia.


Due to a developmental disorder or maturational lag in bladder control while asleep.

The condition is more common in boys and in those with a positive family history.
More than 20% of the cases spontaneously resolve before the patients are school age.
Reassurance of the parents is usually the first step in management, although some physicians
recommend bladder exercises and scheduled toileting.
Conditioning with "wet" alarms and waking the child in the middle of the night have also helped a
moderate number of children.
For patients with persistent nocturnal enuresis, the drug of choice is DDAVP (desmopressin) .
The second line medication is imipramine.


Bedwetting is considered normal before the age of 5 years and no investigations or medical
treatment should be prescribed for it.


The most common cause of secondary hypertension in children is fibromuscular dysplasia.

It is responsible for approximately 20% of all cases of renal hypertension.
Aside from children, fibromuscular dysplasia is also generally seen in premenopausal women (or
women less than 50 years old).
Physical examination reveals a hum or bruit in the costovertebral angle due to well-developed





The right renal artery is more affected than the left.

Angiography typically shows a "string of beads" pattern to the renal artery.


Is the retrograde flow of urine from the bladder to the ureter and renal pelvis.
Reflux is a risk factor for UTI & Repeated attacks of UTI can lead to progressive renal scarring, which
is the major cause of end stage renal disease and hypertension in children.
It is a risk factor for UTI as it facilitates the transport of bacteria from bladder to the UPPER URINARY
TRACT, this explains why VUR is the most likely cause of acute UTI in children.
VUR is present in 35-40 o/o of children with UTI.
The diagnosis is made with voiding cystourethrogram (VCUG) followed by renal imaging.
Diagnosis of VUR is best made with a voiding cystourethrogram or a radionuclide cystogram (RNC).
Renal ultrasonography is less sensitive in detecting reflux nephropathy.
The American Academy of Pediatrics recommends that all children aged 2 to 24 months with a first
UTI should undergo a VCUG or RNC to detect the presence VUR.


Chronic pyelonephritis is characterized by focal parenchymal scarring and blunting of calices

on IVP.
Hydronephrosis is seen on IVP as dilation of the collecting system including the calyces,
pelvis and ureter, depending on the level of obstruction.
Ureteropelvic obstruction would also lead to hydronephrotic changes in the kidney with IVP
showing the level of obstruction as a constriction in the flow of dye.


usually present with fever, chills, nausea, vomiting and flank or suprapubic pain.
Physical examination shows costovertebral angle tenderness.
Urinalysis shows bacteriuria and pyuria.
Therapy should be started with empiric antibiotics after withdrawal blood & urine for culture and
sensitivity and before its results are available.
Severe disease with systemic manifestations warrants intravenous (IV) antibiotics.
If patient is vomiting and hypotensive; therefore, IV antibiotics should be administered.








It is caused by Paramyxovirus.
Characterized by a prodrome of non-productive cough, coryza, non-purulent conjunctivitis, followed by
Koplik's spots (pathognomonic): red spots with bluish specks over the buccal mucosa, opposite the
premolar tooth & sometimes on the inner conjunctivae & vaginal mucosa
And maculopapular rash initially appearing on the face then spread to involve the entire body.
Lab. findings: leukopenia, lymphopenia and Proteinuria may be seen.
Diagnosis is mostly clinical and can be supported by a fourfold rise in hemagglutination inhibition
antibody titer.
Leukopenia (T-cell cytopenia) and thrombocytopenia can be seen with measles infection.
Vitamin A has been shown to reduce the morbidity and mortality rates of patients with measles through
immune enhancement.
It also helps the gastrointestinal and respiratory epithelium to regenerate.

N.B.: - Atypical measles:


Occurs in persons who have previously received inactivated measles vaccine (was available
in the 1960's), (the measles vaccine available now is a live one).
This form is potentially life-threatening, and characterized by atypical rash (not
maculopapular), the absence of Koplik spots, arthritis, hepatitis and lung involvement Edema
of the hands and feet may occur.


characterized by low-grade fever, lymphadenopathy (sub-occipital and posterior auricular) and rash.
The rash is erythematous, maculopapular and classically begins on the face, spreading subsequently
down the body.


Transmitted via the placenta, the causative organism is Toga virus.

Maternal infection manifests after an incubation period of 14 to 21 days with mild symptoms such as
rash, arthralgias and generalized lymphadenopathy.
Since rubella infection confers permanent immunity, only primary infection in the pregnant woman
carries the risk of fetal disease.
The severity of fetal disease depends on the time of pregnancy when the transmission took place.
Infections of early pregnancy are the most severe, and the associated adverse outcomes include
spontaneous abortion and congenital rubella syndrome (CRS).
If transmission occurs in the first 4 weeks of pregnancy, the risk of developing CRS is 50%, drops to 1
% if transmission occurs in the third trimester.





Features of CRS: IUGR, deafness, cardiac malformations (e g , patent ductus arteriosus, atrial septal
defects), microphthalmia, cataract, retinopathy, hepatosplenomegaly, thrombocytopenia, and CNS
Chronic infection may result in growth retardation, radiolucent bone disease, jaundice,
hepatosplenomegaly, thrombocytopenia and purple skin lesions ("blueberry muffin spots").
Maternal infection is confirmed by the presence of lgM to rubella virus, or a fourfold increase in lgG on
two serum samples obtained two weeks apart.
In the infant, the diagnosis is confirmed by the presence of lgM or persistence of lgG beyond the age
of 6 months.
Prevention of congenital rubella is primarily achieved by administration of rubella vaccine to all females
of childbearing age.
If the immunologic status of a pregnant woman is unknown, rubella titers should be obtained in the first
Immunization should not be performed in pregnancy because of a theoretical risk for the fetus, and
such women should be advised to avoid anyone with possible rubella infection.
Classic triad of congenital rubella syndrome (CRS) - sensorineural deafness, cardiac malformations (e
g , PDA and ASD), and cataracts.


caused by human parvovirus 819.

Children have different presentations and develop a rash with a "slapped cheeks" appearance.
Fever is not present or very mild in this disease.


Caused by herpes virus 6.

Characterized by the abrupt onset of high-grade fever, which is then followed by a maculopapular rash,
appearing on the trunk and then spreading peripherally.
The patient is no longer febrile when the rash develops.
There are no positive physical signs such as sore throat or lymphadenopathy during the febrile stage.


The clinical manifestations of chickenpox in healthy children generally develop within fifteen days after
the exposure.
Include a prodrome of fever, malaise, or pharyngitis, followed by the development of a generalized
vesicular rash, usually within 24 hours.
The lesions are commonly pruritic and appear as successive crops of vesicles over a three to four day
Patients typically have lesions in different stages of development on the face, trunk and extremities.
New lesion formation generally stops within four days, and most lesions are fully crusted by the 6th
day in normal hosts.





Is a superficial skin infection with multiple vesiculopustules on the exposed areas of the face and
Is a contagious disease caused by Staphylococcus aureus, Streptococcus, or both.
It presents as an erythematous macule, which rapidly evolves into vesicles and pustules.
The pustules later rupture and leave honey-colored, crusted exudates.
There are 2 forms of impetigo vesiculo-pustular and bullous types Bullous type is caused by
These vesiculopustules eventually rupture, and then appear encrusted with a characteristic goldenyellow color.
A history of skin trauma or insect bite is common, and local lymphadenopathy can be present.
Impetigo is most commonly seen in children, and is associated with post-streptococcal
The etiologic agent is either group-A beta-hemolytic streptococci (GABS) or S. aureus, the clinical
presentations of these organisms are almost similar.
Factors predispose to impetigo are warm and humid climate, poverty, crowding, poor personal hygiene,
and carriage of GABS or S . aureus.
Nasal carriage of Staphylococci can cause recurrent impetigo.
Topical mupirocin is the treatment of choice or oral erythromycin.


Criteria of Kawasaki's disease:

Fever for > 5 days, and

Four of the following symptoms:

Bulbar conjunctiva! injection.

Desquamation of the finger and toe tips, indurative edema.

Erythema, fissuring, and crusting of the lips, strawberry tongue, and diffuse mucosal
injection of the oropharynx.

Morbilliform truncal exanthem.

Cervical lymphadenopathy.
Kawasaki disease is one of the most common causes of generalized vasculitis in children.
It is usually self-limited, although it can be fatal because of giant aneurysm formation, thrombosis or
rupture of the coronary arteries, leading to MI.
2D echocardiography is used to assess cardiac function and coronary vasculature (Coronary artery
aneurysms are the most serious complication of Kawasaki disease).
A baseline echocardiography is to be performed within 7 days of the disease onset, then repeated 6
to 8 weeks later.
The laboratory of Kawasaki's disease: increased (ESR) and C-reactive protein, leukocytosis,
normochromic-normocytic anemia, and thrombocytopenia.
Thrombocytopenia is a non-specific finding and does not characterize this illness.
Fever in Kawasaki's disease poorly responds to acetaminophen.
All patients with suspected Kawasaki disease should be hospitalized and treated with intravenous
immune globulin ( IVIG) and high-dose aspirin.
The mainstays of systemic treatment of Kawasaki's disease are intravenous immunoglobulin (IVIG)
and aspirin.
Aspirin is useful for fever and arthritis.
This is one of the conditions in which aspirin is recommended in children despite concerns about
Reye's syndrome.





Influenza vaccination is recommended in patients with Kawasaki's disease taking life long aspirin
IVIG has been shown to reduce the incidence of coronary artery aneurysms and other complications.
If untreated, up to 25 % of these patients may develop coronary artery aneurysms.


Caused by strains of Group A streptococcus that produce erythrogenic exotoxins.

Has the same mode of transmission and age of distribution as streptococcal pharyngitis.
The illness may follow a streptococcal pharyngitis, wound infections, burns, or streptococcal skin
It begins acutely after an incubation period of 1 to 7 days.
Initial symptoms include fever, chills, toxicity, abdominal pain, and pharyngitis.
The rash initially appears on the neck, axillae, and groin within 12 to 48 hours, and subsequently
generalizes within 24 hours.
The rash characteristically has a punctate or finely papular texture which is sometimes readily palpable;
hence, the "sandpaper-like" description.
The pharynx is typically erythematous, swollen and possibly covered with gray-white exudates,
strawberry tongue may be present as in cases of Kawasaki disease.
The area around the mouth appears pale in comparison with the extremely red cheeks, giving the
appearance of "circumoral pallor.
Towards the end of the first week, desquamation begins in the face, progresses down the trunk, and
finally extends to the hands and feet.
The most common condition with which Kawasaki's disease is confused is scarlet fever; however,
scarlet fever will have a positive streptococcal throat test, and normal-appearing lips, as opposed to
negative streptococcal throat test and inflamed lips in Kawasaki's disease.
Latex agglutination test is more rapid but less accurate in the diagnosis of scarlet fever.
The treatment of choice for scarlet fever is a ten-day course of penicillin V; however, in penicillin-allergic
patients, erythromycin or clindamycin can be used.
Treatment of scarlet fever with penicillin doesn't prevent post-streptococcal glomerulonephritis.


Caused by exfoliative strains of S. aureus, and is characterized by the development of superficial

flaccid bullae followed by an extensive exfoliation of the skin.
It is most common in infancy, and rarely occurs beyond five years of age.


is a throat infection caused by enteroviruses, especially Coxsackie A.

It is characterized by a high fever and a severe sore throat that may result in a complete inability to
swallow, sometimes necessitating IV hydration.
Ulcerative lesions are found on the palate, tonsils, and pharynx Sometimes, these lesions appear on
the palms and soles & is called (hand-foot-mouth disease).
It generally does not produce a rash after taking an antibiotic.





caused by the Epstein-Barr virus.

Sometimes detected only when the patient develops a characteristic polymorphous rash after taking
ampicillin or amoxicillin for an apparent URT infection.
A prodrome of malaise, fever and adenopathy, the virus is spread via the saliva, and the condition
usually resolves after 2-3 weeks. can also present with exudative pharyngitis and lymphadenopathy.


Group A beta-hemolytic streptococci (not Group B) is responsible for 20-25% cases of pharyngitis in
Group B streptococcus infections in the adult are serious. these are common in diabetics and those
with peripheral vascular disease.
Complications include endocarditis, arthritis, pneumonia, empyema and meningitis.
It does not present with a rash after taking amoxicillin.


is another form of cutaneous hypersensitivity that is sometimes considered to be a variant of StevensJohnson syndrome.
Most cases are secondary to medications, such as sulfa drugs, anticonvulsants, and NSAIDs.
Similar to staphylococcal-scalded syndrome, it presents with extensive erythema, tenderness, and
blister formation, followed by denudation of the epidermis.
Mucous membranes are severely affected, and shedding of the nails may occur.


A severe variant of erythema multiforme.

Characterized by skin lesions of erythema multiforme (target lesions), followed by inflammatory bullae
of two or more mucous membranes.
Sometimes, the GI, respiratory, or GU tracts may also be involved.


Fatal disease that is transmitted to humans by contact with saliva or nervous tissue from an infected
animal through a bite, open wound, or mucus membrane contact.
Bats are a major reservoir for the rabies virus, Bat bites are often so quick and minor that the victim is
not even aware.
For this reason, any direct contact between bats and humans requires post-exposure rabies
People bitten by domestic animals suspected of being rabid or not available for observation, or by wild
carnivores like raccoons, skunks, and foxes should also receive prophylaxis.
Rabbits and small rodents like squirrels, chipmunks, and rats are rarely infected with rabies, so Postexposure prophylaxis following bites is not routine.






usually self-limited inflammation of the leptomeninges caused by a viral infection.

90% of cases are caused by non-polio enteroviruses, such as echovirus and coxsackievirus.
The incidence of viral meningitis decreases with increasing age Infants are most commonly affected,
and disease morbidity and mortality is highest in this group.
Present with a viral prodrome of constitutional and upper respiratory symptoms with low-grade fever.
Over the next 36-48 hours, the patient develops a high fever, headache, irritability, and nuchal rigidity.
Focal neurologic signs are absent.
The patient may also present with seizures. Other symptoms of enteroviral infection may also be seen
such as pharyngitis, rash, or herpangina.
In viral meningitis, (CSF) will show pleocytosis with lymphocytic predominance, although neutrophils
may predominate early in the course.
The protein level is normal to slightly elevated and the glucose level is normal, CSF gram stain will not
show any organisms.
Treatment is supportive; in most patients, symptoms resolve within 7-10 days.
Viral meningitis can be caused by Epstein-Barr virus, but this is a much less common cause than the


caused by Streptococcus pneumoniae or Neisseria meningitidis. will have a similar presentation

CSF examination will show an increased cell count with a predominance of neutrophils, increased
protein, and decreased glucose Gram stain will show bacteria.
Suspect meningococcemia in a neonate with signs of meningitis and a petechial rash.
75% of patients with Meningococcus meningitis present with a petechial rash that is prominent on the
axilla, wrists, flanks and ankles.
It appears within 24 hours of the infection, and the patient generally appears sick.
Even though pneumococcus is the most common organism responsible for meningitis, it does not
cause a rash.
In an infant with meningococcemia, watch out for Waterhouse-Friderichsen syndrome, which is
characterized by a sudden vasomotor collapse and skin rash (large purpuric lesions on the flanks) due
to adrenal hemorrhage Fulminant meningococcemia can occur after a meningococcus infection, and
approximately 10-20% of infants present with vasomotor collapse, large petechiae and purpuric
The condition carries an almost 100% mortality.
Lumbar puncture (LP) is the key to establishing the diagnosis of meningitis and differentiating between
viral and bacterial causes.
The first steps in management: supportive care with oxygen and fluids, a CBC, and blood cultures.
In contrast to suspected meningitis in adults, in whom antibiotics are followed by (CT) scan and LP,
children should first have an LP and then antibiotics.
An LP is quick and easy to obtain in most children, even if they are agitated.
Herniation is less likely in infants aged <1 year because the fontanelles have not fully closed.
This patient should have an LP followed by administration of vancomycin (given the high incidence of
resistant S. pneumoniae) and a third-generation cephalosporin
If the LP is unsuccessful or cannot be performed, then antibiotics should be given and the LP obtained
as soon as possible.
Although antibiotics given before LP can affect the yield of (CSF) Gram stain and culture, pathogens
other than meningococcus can usually be identified in the CSF up to several hours after the
administration of antibiotics.




Blood cultures must be obtained prior to the antibiotics.

Many experts recommend dexamethasone for all children aged >6 weeks with pneumococcal
meningitis and for those with Haemophilus influenza type b meningitis (if given within 1 hour of initial
antibiotic therapy) to reduce the incidence of hearing loss with bacterial meningitis.


CSF in tuberculous meningitis also shows a mildly elevated white cell count with lymphocyte
predominance; the protein will be very high and glucose will be low.
However, the presentation tends to be subacute rather than acute.
The long-term neurologic sequelae associated with bacterial meningitis are:

hearing loss

loss of cognitive functions (due to the neuronal loss in the dentate gyrus of the


mental retardation

spasticity or paresis


Toxoplasmosis, rubella, CMV, HSV and syphilis. cause a syndrome characterized by microcephaly,
hepatosplenomegaly, deafness, chorioretinitis, and thrombocytopenia.
Standard prenatal care for high risk women (immigrants) in USA includes: screening for infection with
syphilis, chlamydia, gonorrhea, and HIV, as well as rubella and hepatitis B immunity.


Folic acid supplementation prior to conception is important to prevent neural tube defects such as spina
bifida and anencephaly.
Zidovudine treatment early in pregnancy in women with confirmed HIV infection can reduce the risk of
vertical transmission of HIV to the fetus.
Also Caesarian delivery also reduces vertical transmission.
Malaria during pregnancy, causes maternal anemia, also increases the risks of fetal loss and IUGR.
Microcephaly is not associated with malaria during pregnancy.
Smoking during pregnancy carries a risk of intrauterine growth retardation, as well as neurologic and
developmental defects. Microcephaly is not a feature.


Presents early on with hepatosplenomegaly, cutaneous lesions, jaundice, anemia, and rhinorrhea.
Metaphyseal dystrophy and periostitis may be seen on radiography.
Late manifestations: frontal bossing, high arched palate, Hutchinson teeth, interstitial keratitis, saddle
nose, and perioral fissures.
These late manifestations can be prevented with early treatment of the infant
Serologic testing: initial screening (VDRL), rapid plasma reagin (RPR), (EIA); confirmatory testing is
with treponemal tests as the (FTA-ABS) or (TPPA).
Parenteral penicillin G is the treatment of choice for syphilis.






Remember the classic triad of congenital toxoplasmosis: chorioretinitis, hydrocephalus, and

intracranial calcifications.
Microphthalmia, microcephaly, hepatomegaly, diffuse lymphadenopathy, jaundice and diffuse
petechiae may be seen.


Parotitis secondary to mumps.

Orchitis is one of the most frequent complications of mumps, developing in about 20% of cases.
It is most common in postpubertal young men, ages 15-29. Because less than 15% of orchitis cases
of are bilateral, infertility is a rare complication.
Treatment for mumps is supportive, with application of cold compresses to the parotid area or testes.
Other common complications of mumps are aseptic meningitis and encephalitis.


is a form of primary herpes simplex virus infection that is usually superimposed on healing atopic
dermatitis lesions after exposure to herpes simplex virus.
Numerous umbilicated vesicles over the area of healing atopic dermatitis are typical.
It is frequently accompanied with fever and adenopathy.
In infants, the infection may be life-threatening, and acyclovir treatment should be initiated as soon as


The healthy appearance of the neonate, the evanescent nature of the rash, and the distinctive red halo
surrounding the lesions support the diagnosis of erythema toxicum.
The presence of numerous eosinophils in the pustules is diagnostic.
Erythema toxicum is a benign, self-limited condition usually found in newborns after the first 2 days of
Treatment is not necessary.



Milia are small pearly white cysts, and are distinct from the rash of erythema toxicum.
Sebaceous hyperplasia presents as little yellowish papules and are commonly found on the
Vaccination against hepatitis B decreases the incidence of hepatocellular carcinoma,
especially, in regions with high levels of hepatitis B infection such as Asia (china) and Africa.
The vaccination schedule for preterm infants should be conformed to the child's chronologic
age, not the gestational age.
Because prematurity does not markedly change the immune response to vaccines, and the
risk of infection and complications in preterm infants is greater than term.
The exception is that children should be 2 kg prior to receiving the first hepatitis B vaccine
(which is at birth).
Small for gestational age infants have a weight under the 10th percentile for gestational age
at birth
May have complications such as hypoxia, polycythemia, hypoglycemia, hypothermia, and




Albendazole or mebendazole is the first-line treatment for Enterobius vermicuLaris infection,

Pyrantel pamoate is an alternative.
Urinalysis is a preliminary investigation that should be performed first in all patients with
suspected renal disease.
All children with recurrent episodes of nocturnal vulvar itching should be examined for
pinworms and treated empirically with mebendazole.
Female infants less than 3 months of age sometimes develop vaginal spotting, discharge or
bleeding. Due to maternal estrogens crossing the placenta to the fetal blood before birth,
causing a pubertal effect in the newborn, which disappears as soon as the hormone is cleared
from the infant's circulation, so treatment is reassurance of the mother.


The causative agent is the spirochete Borrelia burgdorferi, which is transmitted to humans by the bite
of an infected tick of the Ixodes species.
The first clinical manifestation is the typical annular rash, named erythema migrans, at the site of the
The rash may be uniformly erythematous, or it may appear as a target lesion with central clearing.
Erythema migrans may be associated with systemic features: fever, myalgia, headache or malaise.
Individuals who are exposed to tick-infested areas should wear light-colored clothing so that ticks can
be spotted more easily and removed before getting attached.
Wearing long-sleeved shirts and tucking pants into socks or boot tops can help keep ticks from
reaching the skin.
Applying insect repellents containing DEET to clothes and exposed skin, and applying permethrin to
clothes, which kills ticks on contact, also reduce the risk of tick attachment


Is a superficial fungal infection mostly seen in hot, humid climates.

The lesions are pruritic, erythematous, scaly, and have a red ring with central clearing.
Exposure to infected animals, people, and public places are major risk factors.
Tinea corporis is most common in preadolescents.
It is diagnosed clinically or with a skin scraping and potassium hydroxide examination.
Topical antifungals ( Terbinafine) are the preferred therapy.


also known as fatty liver with encephalopathy.

A rare illness seen exclusively in children less than 15 years old who were treated with salicylates for
a viral infection.
Pathophysiology Reye syndrome is characterized by diffuse mitochondrial injury that leads to;
Present with: vomiting, agitation, and irrational behavior, progressing to lethargy, stupor, and
restlessness, convulsions may occur.
The liver is enlarged but there is no icterus.
Laboratory findings: hyperammonemia, normal or slightly elevated bilirubin and alkaline phosphatase,
prolonged prothrombin time, hypoglycemia, and moderate to severe elevations in AST, ALT, and
lactate dehydrogenase levels.





Histologically, extensive fatty vacuolization of the liver without inflammation is present

Biopsy of the liver, kidneys and brain reveals microvesicular steatosis.
Treatment is supportive
Aspirin is therefore generally contraindicated in children, except in the treatment of Kawasaki disease.


Newborns of mothers with active hepatitis B infection should be passively immunized at birth
with hepatitis B immune globulin (HBIG) followed by active immunization with recombinant
HBV vaccine.


C. botulinum is the most common etiologic agent and is usually transmitted through food, especially
honey, which is the carrier in 1/3 of cases.
In infantile form of botulism, the causative organism gains entry through the food and produces toxin
in the GIT, which subsequently triggers the symptoms.
It is a protease that blocks acetylcholine release.
Infants typically present between 2 weeks and 9 months with constipation and poor feeding.
This is followed by progressive hypotonia, weakness, loss of deep tendon reflexes, cranial nerve
abnormalities (impaired gag reflex), and respiratory difficulties.
Signs of autonomic dysfunction such as hypotension and neurogenic bladder can occur early in the
course of the disease.


is caused by exfoliative toxin-producing strains of S. aureus.

It starts with a prodrome of fever, irritability, and skin tenderness, which is followed by generalized
erythema and superficial flaccid blisters.
A positive Nikolsky sign (gentle lateral pressure on the skin surface adjacent to a blister causes slipping
and detachment of a superficial layer of skin).
Scaling and desquamation follow, before resolution of the disease process SSSS usually affects
children below age 10. but adults with kidney disease or immune compromise may also be affected.
Cultures from intact bullae are usually sterile, because this is a toxin-mediated process.
The goal of treatment is to eliminate any focus of infection with appropriate anti-staphylococcal
antibiotics & provide supportive wound care of all denuded areas.








Adequate hydration is very important in the management of diarrhea, replacement of electrolytes is

also essential to prevent complications such as water intoxication and hyponatremia.
Water intoxication, hyponatremia, and seizures may result if diarrhea is treated with large amounts of
hypotonic or low-solute fluids (e g , water).
Mild to moderated dehydration secondary to acute diarrhea --> Oral rehydration therapy with Oral
Rehydration Solution (ORS).
Severe dehydration requires hospitalization and IV therapy.


Healthy, full term, and appropriate for gestational age infants may lose up to 10% of their birth weight
in the first week of life.
The fetus exists in a state of relative total body water and extracellular fluid excess.
After birth, excretion of this excess water accounts for the majority of the weight loss.
The birth weight should be regained by 10 days of life.

Signs of Neonate/Infant Dehydration:


Dry oral mucosa, lips, and tongue.

Decreased number of wet diapers.
No tears present when crying.
Delayed capillary refill time (>2 seconds).
Decreased skin turgor

Management of dehydration:

The initial step in managing children with dehydration is to determine its severity.
The ideal method of assessing dehydration is to determine the measured change in weight because 1
kg of acute weight loss equals 1 L of fluid loss.
A child's weight, however, changes constantly, making it difficult to obtain an accurate recent "well"
So, the degree of dehydration often has to be determined by the clinical history and physical
examination & can be divided into:
Mild dehydration: presents with a history of decreased intake or increased fluid loss with
minimal or no clinical symptoms.
Moderate dehydration; decreased skin turgor, dry mucus membranes, tachycardia, irritability,
a delayed capillary refill (2-3 seconds),& decreased urine output.
Severe dehydration: cool, clammy skin, a delayed capillary refill (>3 seconds), cracked lips,
dry mucous membranes, sunken eyes, sunken fontanelle (if still present), tachycardia,
lethargy, and minimal or no urine output, Patients can present with hypotension and signs of
shock when severely dehydrated.
Oral rehydration therapy should be the initial treatment in children with mild to moderate dehydration
Children with moderate to severe dehydration should be immediately resuscitated with intravenous
fluids to restore perfusion and prevent end organ damage.





Isotonic crystalloid is the only crystalloid solution recommended for intravenous fluid
resuscitation in children.


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
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,
When treating a patient with hypernatremia, the sodium must be slowly returned to normal.
In case of hypernatremia and dehydration, the initial goal is to stabilize the infant with fluid resuscitation
as needed.
When giving intravenous fluid boluses, only isotonic solutions such as normal saline or lactated
Ringer's should be used.


Half normal saline (45%) and 5% dextrose are hypotonic solutions, they should never be used
for initial resuscitation. because they quickly exit the intravascular system and lower the
sodium too rapidly Precipitating drop in sodium levels can cause cerebral edema.
Multiple studies have demonstrated that the expensive colloid solutions are no better than
crystalloids at fluid resuscitation.


Fine Motor: Tow finger pincer grasp & turns several pages of a book at a time.
Gross Motor: Walks without assistance & - Waves bye & Climbs up on furniture.
Language: Says 2-3 words & - Says "mama" and "dada" games (can identify each parent).
. Social: Imitates actions & - Plays reciprocal games (peek-a-boo) & indicates wants.

Age: 12 months:

Age: 2 year:

Fine Motor: Builds a tower of 6 cubes.

Gross Motor: Walks up & down stairs
Language: 200 word vocabulary & uses 2-word phrases
Social: Follow 2 step commands.





Fine Motor: Copies a circle uses utensils to feed self & stacks 9 blocks.
Gross Motor: climbs stairs with alternating feet, rides a tricycle & kicks a ball.
Language: uses 3 word sentences, stats first name & 3/4 (75%) of speech is intelligible.
Social: wash/dry hands, helps with simple household tasks & group play.

Age: 3 years:

Age: 4 years:

Fine Motor: Copies a cross, draw a person, begins to use scissors & holds a crayon with a tripod grasp.
Gross Motor: Hops on one foot without losing balance & jumps over objects.
Language: Counts to 10, tells stories & use plurals and prepositions.
Social: Cooperative play, has imaginary friends & imitate adults role.


Social smile 2 months

Babbles 6 months
2 words, obeys 1-step command 1 year
2-3 word phrases, obeys 2-step command 2 years



Holds head 3 months

Rolls back to front and front to back 4 months
Sits well unsupported 6 months
Walks alone 12 months
Walks up and down stairs without help 24 months



Raking grasp 6 months

Throws object 12 months
Builds tower of 2 blocks 15 months
Builds tower of 6 blocks/turn pages of books 24 months


Recognizes parents 2 months

Recognizes strangers (stranger anxiety) 6 months
Imitates action/comes when called 12 months





Plays with other children 18 months

Parallel play 24 months

Developmentally, a 12 month old should be able to walk holding onto a hand or object. He
should have a neat pincer grasp that allows him to grab small objects.
Language development at 1 year old consists of mama and dada said specifically to his
parents, and at least one other word.
Socially, a 12 month old can roll a ball and makes postural adjustments when being dressed



usually occurs between the ages of 2-4 years old.

Parents should be counseled that several milestones must be met by the child to become potty trained.
Children must be aware of bladder filling, be able to consciously tighten the external sphincter, have
normal bladder growth, and be motivated to stay dry.
They must also have met motor milestones to be able to walk to the toilet, sit upright on the toilet, and
the language to indicate the need to use the bathroom.
The child will demonstrate readiness to begin toilet training when they communicate the need to urinate
or defecate prior to passing urine or stool, and when they can withhold the urine or stool for a brief
period of time.
When a child is ready, toilet training consists of placing the child on the toilet at regular times and using
positive reinforcement as a reward.
Girls are usually toilet trained faster than boys, but 90-95% of children will achieve daytime continence
by 5 years old.
When a child is not ready for toilet training, forcing him to sit on the toilet will make him more reluctant
and can make potty training very difficult.
The best step in the management of a reluctant child is to stop toilet training for several months and
allow the child to become interested on his own.


This condition usually presents after several months of being Vitamin D-deficient.
The typical pathology is - defective mineralization of growing bone or osteoid tissue
The typical patients are low-birth weight infants, unsupplemented dark-skinned infants, infants with
inadequate sun exposure, and solely breastfed infants.
Early manifestations: craniotabes (ping-pong ball sensation over the occiput or posterior parietal
bones), rachitic rosary, and thickening of the wrists and ankles.
Other findings: Harrison groove and a large anterior fontanelle.
Diagnosis is confirmed by obtaining the serum calcifediol level (decreased), alkaline phosphatase level
(increased), and observing the characteristic radiologic changes(cupping and fraying of the distal ends
of long bones, and double contour along the lateral outline of the radius).
Treatment includes oral Vitamin D administration and adequate sunlight (or artificial light) exposure.
The current recommendation to prevent rickets is oral Vitamin D supplementation, beginning during
the first 2 months of life and continuing until early adolescence.





Normal sexual behaviors for young children (ages 2-5) include:

Talking about genitals or reproduction, occasional masturbation, enjoying being naked, and curiosity
about their own and other people's body parts.
They may play "doctor" with each other or compare their bodies with other children's bodies.
In addition, transient cross-dressing is often common in preschool boys.
Extensive sexual knowledge as well as simulating foreplay or intercourse are concerning behaviors in
a young child and could be indicators of sexual abuse.


Characterized by disruptive behavioral patterns that violate basic social norms for at least one year in
patients less than 18 years old.
It includes aggressive behavior towards others or animals, behaviors resulting in property damage,
theft, or violations of societal rules.


Constitutional growth delay is the most common cause of short stature and pubertal delay in
Affected individuals have a normal birth weight and height, but between 6 months to 3 years of age,
the height growth velocity slows, and they drops percentiles on their growth curve.
Around 3 years of age, the child regains a normal growth velocity and follows the growth curve at the
5th to 10th percentile.
Puberty and the adolescent growth spurt are delayed, but eventually occur.
The child will have a normal growth spurt and reach a normal adult height.
Bone age radiographs show a bone age that is delayed compared to the chronological age.


Separation anxiety is a normal behavior in young children between 9-18 months. usually manifests
when parents leave the child or at night when the child is put to bed.
The child responds by crying, clinging to the parent, and becoming upset Separation anxiety usually
lasts 2-4 months and gradually resolves as the child begins to understand that his parents will return.
The initial step in the management of children with speech delay is an audiology evaluation especially
when there is history of recurrent otitis media.








patient is usually less than 3 years old and presents with impairment in social interactions and
communication, delayed language development, repetitive activities, and stereotypical behaviors.
Treatment include special education and behavioral modification techniques, No pharmacological
agent has been found to be useful in autism.


These kids are usually more socially aware and communicative. Although patients may have features
of stereotypical movements and self-injurious behavior, their language development is normal.


Children with ADHD have poor impulse control, inattentiveness, and motor overactivity.
Multiple factors contribute to development of ADHD: genetics, pregnancy or birth complications,
maternal drug use, abnormal brain development or traumatic brain injury, and psychological stressors.
There are three subtypes of ADHD - predominantly inattentive, predominantly hyperactive-impulsive,
or combined.
To meet the diagnostic criteria for ADHD, a child must exhibit six or more symptoms of inattention or
hyperactivity- impulsivity before age 7 years, with the symptoms present for at least 6 months.
The symptoms must cause significant impairment in functioning and must occur in at least two different
Many children with ADHD have a family history of ADHD. However, this is not necessary for the
Educational testing may be appropriate, as many children with ADHD have coexistent learning
disabilities however.
Teacher evaluations must be obtained first to establish the diagnosis of ADHD.
Children with ADHD can have sleep problems, which should be addressed if the diagnosis of ADHD is
confirmed by teacher evaluations.
Inattention Symptoms
Hyperactivity-impulsivity Symptoms
No attention to detail; makes careless mistakes.
Interrupts others when they are speaking.
Cannot pay attention while completing tasks or has a problem while waiting their turn. playing
(e.g while playing a board game).
Answers question before the person finishes the entire question.
Does not appear to listen when spoken to.
Talks constantly.
Does not follow instructions with regard to school work chores etc.
Physically active all the time.
Has a hard time organizing tasks ,including fun tasks.





Cannot perform activities quietly.

Tries to avoid situations where concentration is required (e g , school, homework).
Runs or climbs inappropriately.
Easily distracted.
Cannot stay in seat.
Loses objects needed to perform tasks (e.g., books, writing utensils, etc ).

Undetected hearing impairment: can easily be confused with

Attention deficit hyperactivity disorder (ADHD): However, poor language development and social
isolation are not features of ADHD, and a hearing impairment should be ruled out before a diagnosis
of ADHD is considered.

Autism: However,

. Repetitive behaviors, poor eye contact, and impaired social interactions are not seen in hearing
. In addition, features of autism generally appear before age three and social isolation is more
prominent than in hearing impairment.


The initial management is directed towards maintaining airway patency, The absence of any added
breath sounds and presence of air movement bilaterally in this patient ensures patent airways.
Next step, upper GI endoscopy is recommended in the first 24hrs to assess the extent of the injury and
to dictate further management.
Barium swallow is not recommended due to the associated difficulty in determining the extent of the
injury with this procedure.
Steroids are not recommended because these may increase the chance of perforation Furthermore,
giving steroids have not been proven to provide ,any benefit in preventing strictures in such cases.
Nasogastric lavage and oral antidotes such as vinegar are not recommended since these may increase
the extent of injury.
Remember attempting to neutralize the alkali with vinegar or lavage is dangerous!


Sun exposure is associated with skin photo-aging and several types of skin cancer, including
Encouraging photo-protection is the leading preventive measure in skin care, and sun avoidance is the
best method of photo-protection.
Patients are instructed to avoid outdoor activities in the middle of the day (between 10 am and 4 pm),
which is the period of peak sun radiation intensity.
Sunscreens are useful adjuncts to photo-protection, but offer insufficient protection from ultraviolet
radiation (UVR) when used alone.
Overdependence on sunscreens may sometimes even increase or encourage outdoor exposure
Sunscreens should be applied 15-60 min prior to sun exposure to allow enough time for protective film





Currently, the available data shows little to no protection against melanoma with the use of sunscreen
lotions with SPF 15 - 30; however, these can protect from non-melanoma skin cancers such as
squamous cell carcinoma.
Resting under umbrellas decreases UVR exposure by 70%, but does not affect reflected radiation.
Shade from trees provides insufficient UVR protection .
Clothing is considered to be an effective tool for sun protection; however, it does not supersede sun


The patient's symptoms and history of spilled multivitamin pills are highly suggestive of iron poisoning.
This is one of the most common causes of death by poisoning Elemental iron, when ingested in large
amounts, has a corrosive effect on the GI mucosa, leading to abdominal pain, nausea, vomiting,
diarrhea and hematemesis.
Iron also accumulates in the mitochondria and tissue, thus impairing energy production and resulting
in cellular damage and systemic toxicity.
Hypotension then occurs due to the increased capillary permeability and venodilation.
The resulting peripheral hypoperfusion and mitochondrial damage lead to accumulation of lactic and
citric acid, and consequent metabolic acidosis.
Other complications include liver necrosis, coagulopathy, drowsiness, seizures and coma. Long-term
sequelae include gastric scarring and pyloric stenosis.
Since iron is radio-opaque, the tablets can be seen in the stomach on abdominal x-ray.
The diagnosis is confirmed by measuring serum iron levels.
The treatment depends on the severity of the poisoning: Ipecac syrup to induce emesis is used in
asymptomatic patients with an intact gag reflex.
Intravenous deferoxamine, an iron chelator, is used in moderate to severe cases of intoxication.
Activated charcoal is not effective, and gastric lavage is not recommended in young children.


Is usually the result of a suicide attempt especially if symptoms of depression (isolative behavior,
decreased appetite, poor sleep) are present.
Acute iron intoxication has five phases:
1. GIT phase --> 30 minutes to six hours after ingestion & is due to direct mucosal damage,
patient experience nausea, vomiting, hematemesis, melena, and abd. pain.
2. Latent phase --> 6 to 24 hours after ingestion, and is largely asymptomatic.
3. Shock and metabolic --> acidosis may occur 6 to 72 hours following the ingestion.
4. Hepatotoxicity --> 12 to 96 hours.
5. Bowel obstruction --> secondary to mucosal scarring can develop several weeks postingestion
The diagnosis of acute iron intoxication is made by checking the serum iron concentration.
Levels > 350 mcg/dL are consistent with toxicity.
Treatment of iron poisoning involves deferoxamine, which binds ferric iron, allowing urinary excretion.





There are no known cases of riboflavin (vitamin 82) poisoning.

Acute ingestion of vitamin A causes anorexia, bulging fontanelle (pseudotumor cerebri), hyperirritability
and vomiting.
Acute vitamin D ingestion causes anorexia, nausea, vomiting, diarrhea, headache, polyuria and
Vitamin K may cause hyperbilirubinemia in premature infants.
Acute lead poisoning presents as vomiting, ataxia, colicky abdominal pain, irritability, seizures,
encephalopathy and cerebral edema.
Dimercaprol is the antidote for lead poisoning, as well as poisoning from other heavy metals (e g , gold,
arsenic, mercury).
Aspirin poisoning is characterized by lethargy, fever, hyperpnea, vomiting, tinnitus and metabolic
acidosis, abdominal radiographs are usually unremarkable.


Risk for lead poisoning: live in an old house, especially if there is peeling paint or during renovation
Other risk factors: lead pipes, living near a battery recycling plant, having a parent who works with
batteries or pottery, or having a playmate or sibling with a history of lead poisoning.
Capillary blood specimens (using a fingerstick) are widely used in childhood screening for lead
Since false positive results are common, the first step after an abnormal fingerstick lead level is to
confirm the diagnosis with a serum (venous blood) lead level.
If the serum lead level is >10 ?g/dL, then intervention is needed.
Removing the child from the house would be the most important step in reducing exposure if the
diagnosis of lead poisoning is confirmed.
Chelation therapy with either dimercaprol or dimercaptosuccinic acid (DMSA, succimer) is typically
used when lead levels are extremely elevated (>45 ?g/dL).
Rechecking the lead level in one month is appropriate for children with mildly elevated lead levels (<20
?g/dL) after a thorough history is taken and counseling is done about removing the child from any
potential lead exposure.

VACCINATION ADVERSE REACTIONS: Extremely high yield question for the USMLE!!!

The adverse reactions to the DTaP vaccine are usually attributed to the pertussis component of the
Mild reactions consist of local redness and swelling, irritability , and fever < 105F (40 6C).
Less common reactions include inconsolable crying for > 3 hours and a temperature of > 105F (40
An immediate anaphylactic reaction, an encephalopathy, or any CNS complication within 7 days of
administration of the vaccine is a contraindication for further administration of DTaP.
In these instances, DT should be substituted for DTaP since the adverse reactions are usually
attributed to the pertussis component of the vaccine.






Guidelines recommend active immunization with varicella vaccine for healthy adults & children
exposed to varicella, ideally within the first 3- 5 days of exposure. because efficacy is decreased
beyond this period.
Because this is a live virus, the vaccine is only recommended for immunocompetent individuals.
Postexposure prophylaxis with varicella-zoster immune globulin product is indicated in susceptible
high-risk persons (immunocompromised patients, pregnant women) exposed to varicella within 96
hours (preferably 72 hours) of exposure, it does not prevent infection but effectively reduces disease
severity. administration of any of these vaccines after these periods it will ineffective.


Are of significant concern because these often result in deep puncture wounds, also infection of such
wounds with Pasteurella muftocida tends to develop quickly.
And is associated with considerable pain, erythema, and swelling Localized cellulitis can develop
In some cases, systemic effects (e g , fever and lymphadenopathy) may arise.
Prophylactic treatment is thus recommended for such cases. For treatment of minor cat bite wounds,
amoxicillin/clavulanate for five days is recommended.


Are used to improve physique and athletic performance.

Adverse effects, including acne, baldness, gynecomastia, hepatic dysfunction, altered lipid profiles,
virilization, testicular failure, and mood and behavior changes.


When planning to perform a procedure on a patient, informed consent must be obtained.

It should include an explanation of the following: the suspected diagnosis, the type of procedure or
treatment planned, the risks and possible complications of the procedure, and the alternative
treatments available.
When a procedure needs to be performed on a minor, the minor's parent must provide informed
If the parent is a minor as well, which causes a dilemma because minors (<18 years old) are generally
considered to be incapable of providing consent However, most states have exceptions to this rule that
allow the following groups of minors to provide consent: military personnel, those who are married,
pregnant minors, or those who are a parent, among others.
In these instances, minors are considered free from their parents.


which is caused by moderate or excessive maternal alcohol intake during pregnancy.

It affects fetal growth and morphogenesis, resulting in midfacial abnormalities (short palpebral fissures,
epicanthal folds, long philtrum, thin upper lip border), cardiac defects (atrial or ventricular septal defect,




persistence of arterial canal), multiple joint anomalies, prematurity, growth retardation & mental
It is sometimes clinically difficult to differentiate it from Down's syndrome (trisomy 21 ) since similarities
include facial dysmorphism and heart malformations; however, the normal karyotype in this case rules
out the latter.
Fetal alcohol syndrome is the most common cause of mental retardation in children.
Withdrawal symptoms are usually not seen unless the mother was drinking just prior to delivery.


The opiates that infants are most commonly exposed to are heroin and methadone.
Methadone is prescribed for pregnant women who are addicted to heroin to prevent uncontrolled
withdrawal in the fetus.
Heroin and methadone are not associated with dysmorphic features or congenital anomalies in the
fetus, but prenatal exposure can lead to increased risk of intrauterine growth retardation,
macrocephaly, sudden infant death syndrome, and neonatal abstinence syndrome (NAS).
NAS: presents in the 1st few days of life & characterized by irritability, a high-pitched cry, poor sleeping,
tremors, seizures, sweating, sneezing, tachypnea, poor feeding, vomiting, and diarrhea.
Withdrawal usually presents within 48 hours after birth for heroin withdrawal and between 48 and 72
hours for methadone.
The treatment for NAS: symptomatic care to calm the infant & help the infant sleep, such as swaddling,
providing small frequent feeds, & keeping the infant in a low stimulation environment.
Pharmacologic treatment used when supportive treatment does not control it; Morphine can be
administered & systematically weaned to help control opiate withdrawal.


Prenatal exposure to cocaine can result in jitteriness, excessive sucking, and a hyperactive
Moro reflex.
Withdrawal symptoms are usually not as severe as with opiates; Long-term effects on
behavior, attention level, and intelligence may be seen.


It most commonly occurs in young children following the treatment of viral infections with antibiotic.
May occur 1-2 weeks after administration of certain drugs, such as penicillin, amoxicillin or cefaclor in
the setting of a viral illness.
Prominent symptoms: fever, urticarial rash, polyarthralgia and lymphadenopathy.
It derives its name from its similarities to true serum sickness, an immune-complex mediated
hypersensitivity reaction to non-human proteins.
Serum-sickness like reaction is a clinical diagnosis, and should resolve with withdrawal of the offending
agent; it does not represent a true drug allergy.


leads to pellagra, which is characterized by diarrhea, dermatitis, dementia, and if severe, death.
Pellagra is common in 3rd world countries where the main diet consists of cereal or corn, but can be
seen in people with bowel disease that interferes with vitamin absorption.





Present with GIT complaints (nausea, abdominal pain, or epigastric discomfort) along with glossitis
and watery diarrhea.
Dermatitis seen in pellagra occurs in sun exposed areas and resembles a sunburn; it is also typically
bilateral and symmetric.
As the rash progresses, the skin becomes hyperpigmented and thickened.
Mental status changes can range from poor concentration to irritability, aggressiveness, and dementia.
Death can occur in severe niacin deficiency if untreated.
Treatment of pellagra is niacin replacement.


Deficiency of thiamine (vitamin B1 ) causes beriberi or Wernicke-Korsakoff syndrome

These conditions are characterized by neurologic and psychiatric symptoms, and are often
seen in alcoholics or patients who have had weight loss surgery.

Deficiency of riboflavin (vitamin B2) can lead to cheilosis, glossitis, seborrheic dermatitis (often
affecting the genital areas), pharyngitis, and edema and/or erythema of the mouth (Pure riboflavin
deficiency is has been documented in regions of the world with severe food shortages).

Pyridoxine (vitamin B6) deficiency causes irritability, depression, dermatitis, and stomatitis.
It can also cause an elevated serum homocysteine concentration, which is a known risk factor
for venous thromboembolic disease and atherosclerosis.
Deficiency of cyanocobalamin (vitamin 812) causes macrocytic anemia and peripheral neuropathy.


Suspect vitamin A deficiency in a 2 or 3-year-old child with impaired adaptation to darkness,

photophobia, dry scaly skin, xerosis conjunctiva, xerosis cornea, keratomalacia, Bitot spots and
follicular hyperkeratosis of the shoulders, buttocks, and extensor surfaces


is the leading cause of mortality in infants aged between 1 month and 1 year in the United States.
It is defined as the sudden, unexpected death of an infant that cannot be explained by the history and
a thorough post-mortem examination.
It is recommended that infants be placed in a supine position while sleeping to reduce the risk of SIDS.


is an acute, life-threatening, lgE-mediated type I hypersensitivity reaction.

The most common inciting agents for anaphylaxis are insect envenomation, drugs and foods.
Food allergies are the major cause of pediatric outpatient anaphylaxis, and peanut allergies account
for the majority of fatal and near fatal reactions.
Signs include bronchoconstriction, hypotension and urticaria.
Intramuscular injection of epinephrine is the first-line treatment for anaphylaxis in a patient with a patent
The most effective and potentially life-saving intervention in a patient with known anaphylaxis is
prescription of self-administrable epinephrine for use upon reexposure to the inciting allergen.





Is an atypical antipsychotic commonly used to treat schizophrenia and bipolar disorder.

It is a dopamine & serotonin antagonist.
It inhibits dopamine, which leads to elevated serum prolactin levels.
The hyperprolactinemia causes: oligomenorrhea, amenorrhea, and galactorrhea, in premenopausal
The resultant side effects can include the breast tenderness, amenorrhea, and galactorrhea.
Risperidone has been found to increase prolactin levels to a greater extent than do many of the other


is a common pediatric skin condition.

This papular, scaly rash tends to affect the eyebrows, nasolabial folds, and scalp.
Treatment: moisturizers, antifungals, and topical steroids.


In infancy presents with pruritus and skin lesions typically distributed symmetrically over the face, scalp,
chest and extensor surfaces of the extremities.
The diaper region is typically spared.


usually have a prior dermatological condition such as psoriasis, atopic dermatitis or mycosis fungoides
(Sezary syndrome).


Whenever intravenous access cannot be obtained in emergent pediatric cases, intraosseous access
should be attempted next.
Intraosseous cannulation can be performed quickly in the ED, this technique does not require the
precision required for cannulation of small vessels& provides a cannula large enough to deliver
adequate fluids.
This route can be used in emergencies for 24 to 48 hours, at which point another intravenous route
should have been obtained.
Associated complications such as osteomyelitis are rare.