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USMLE Step 2 (Subject) / Pediatrics (Lesson)

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• Child abuse Includes neglect as well as physical, sexual, and psychological maltreatment of children. History/PE:- Risk factors: look for parents with a history of alcoholism or drug use, children with complex medical problems, and repeated hospitalizations.- Infants: Abuse or neglect in infants pay present as apnea, seizures, feeding intolerance, excessive irritability, somnolence, or failure to thrive.- Older children: Neglect in older children may present as poor hygiene or behavioral abnormalities. Bruises: Often located on head and torso.Contact burns: cigarette/curling iron.Immersion burns. hot water, appear on buttocks or stocking-glove distribution.Spiral fractures: humerus/femur. Epiphyseal-metaphyseal "bucket" fractures.Posterior rib fractures: Indicate squeezing.Abusive head trauma: Lethargy, feeding difficulty, apnea, seizures, retinal hemorrhage, hematoma. Diagnosis:- An x-ray skeletal survey and bone scan can show fractures in various stages of healing.- If sexual abuse is suspected, test for gonorrhea, syphilis, chlamydia, HIV, and sperm (within 72h of assult).- Rule out abusive head trauma (= shaken baby syndrome) by performing an ophthalmologic exam for retinal hemorrhages and a noncontrast CT for subdural hematomas. - Consider an MRI to visualize white-matter changes associated with violent shaking and the extent of intra- and extracranial bleeds. Treatmnet: - Document injuries- Notify Child Protective Services
• Congenital heart disease Intrauterine risk factors for congenital heart disease include maternal drug use (alcohol, lithium, thalidomide, phenytoin), maternal infections (rubella), and maternal illness (diabetes mellitus, phenylketonuria).  - Acyanotic conditions ("pink babies"): Have left-to-right shunts in which oxygenated blood from the lungs is shunted back into the pulmonary circulation.→ VSD, ASD, PDA- Cyanotic conditions ("blue babies"): Have right-to-left shunts in which deoxygenated blood is shunted into the systemic circulation.→ Truncus arteriosus, transposition of the great vessels, tricuspid atresia, tetralogy of Fallot Conditions and associations:- ASD and endocardial cushion defects - Down syndrome- PDA - Congenital rubella- Coarctation of the aorta - Turner syndrome- Coronary artery aneurysms - Kawasaki disease- Congenital heart block - Neonatal lupus- Supravalvular aortic stenosis - Williams syndrome- Ebstein abnormality (apical displacement of the tricuspid valve) - Maternal lithium use- Heart failure - Neonatal thyrotoxicosis- Asymmetric septal hypertrophy and transposition of the great vessels - Maternal diabetes
• Septal defects A condition in which an opening in the atrial or ventricular septum allows left-to-right shunting. VSD is the most common type of congenital heart disease. ASD:- Associated syndromes: Fetal alcohol syndrome, Trisomy 21- Presentation: Asymptomatic (small), fatigability, frequent respiratory infection (large)- Auscultation findings: Wide and fixed split S2, systolic ejection murmur (↑ flow across pulmonary valve)- CXR findings: Cardiomegaly, ↑ pulmonary vascular markings- ECG findings: RVH VSD:- Associated syndromes: Trisomy 21, fetal alcohol syndrome, TORCH infections- Presentation: Asymptomatic (small), frequent respiratory infection, dyspnea, CHF (large)- Auscultation findings: Harsh holosystolic murmur, narrow S2 with ↑ P2- ECG findings: LVH
• Language developmental milestones 2 months: Alters to sound; coos 4-5 months: Laughs and squeals; orients to voice 6 months: Babbles, responds to name 9-10 months: Says "mama/dada"; says first word at 11 months 12 months: 1-3 words, 1-step command 18 months: 10- to 25-word vocabulary; identifies ≥ 1 body parts 2 years: 2-word phrases. Vocabulary ≥ 50 words. 3 years: 3-word phrases. Speech 75% intelligible. 4 years: Knows colors and some numbers. Speech 100% intelligible. 5 years: Uses 5-word sentences. Counts to 10.
• Gross motor developmental milestones 2 months: Lifts head/chest when prone 4 months: Rolls front to back. Sits with trunk support. 6 months: Sits momentarily propped on hands (unsupported by 7 months) 9-10 months: Crawls, cruises, pulls to stand 12 months: Walks alone; throws a ball 18 months: Runs, kicks a ball 2 years: Walks up/down steps with both feet on each step; jumps 3 years: Rides tricycle; climbs stairs with alternating feet 4 years: Hops on 1 foot 5 years: Skips; catches ball with 2 hands
• Fine motor developmental milestones 2 months: Tracks past midline 4-5 months: Grasps rattle 6 months: Transfers objects 9-10 months: Uses 3-finger (immature) pincer grasp. Holds bottle or cup. 12 months: Uses 2-finger pincer grasp 18 months: Builds a tower of 2-4 cubes, removes clothing 2 years: Builds tower of 6 cubes, copies a line 3 years: Copies a circle, uses utensils 4 years: Copies a cross 5 years: Copies a triangle/square; ties shoelaces; dresses/bathes independently; knows left and right
• Social/cognitive developmental milestones 2 months: Recognizes parent; social smile 4-5 months: Enjoys looking around, laughs 6 months: Demonstrates stranger anxiety (resolves by 2 years of age) 9-10 months: Waves bye-bye 12 months: Imitates actions; Separation anxiety. Comes when called. 18 months: Understands "mine". Begins pretend plasy. 2 years: Follows 2-step commands; parallel play; begins toilet training. 3 years: Brushes teeth with help; washes/dries hands; knows age/gender; imaginative play 4 years: Exhibits cooperative play 5 years: Exhibits domestic role playing; completes toilet training
• Edwards syndrome Trisomy 18 Epidemiology:- F > M Clinical features:- Intellectual disabilities- Rocker-bottom feet- Low-set ears- Micrognathia- Clenched hands (overlapping fourth and fifth digits)- Prominent occiput- Congenital heart disease (particularly VSD, ASD, tetrology of Fallot)- Malformation of internal organs: diaphragmatic hernia, horseshoe kidneys Diagnostics:- Quadruple test shows ↓ free estriol, ↓ AFP, ↓ inhibin A, and ↓ β-hCG
• Patau syndrome Trisomy 13 Clinical features:- Intellectual disability- Microphthalmia, possibly coloboma- Cleft lip/palate- Microcephaly, holoprosencephaly- "Punched-out" scalp lesions- Polydactylyl (vs. overlapping digits in Edwards syndrome)- Omphalocele- Congenital heart disease Diagnostics:- ↓↓ PAPP-A, ↑ nuchal transparency
• Phenylketonuria (PKU) Caused by ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor. Autosomal recessive.Tyrosine becomes essential, and phenylalanine accumulates and is subsequently converted to its ketone metabolites. History/PE: - Normal at birth; presents within the first few months of life.- Presents with intellectual disabilities, fair hair and skin, eczema, blond hair, blue eyes, and a musty urine odor.- Associated with ↑ risk of heart disease. Treatment: Modify diet and ↓ phenylalanine (artificial sweeteners) and ↑ tyrosine.
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• Fragile X syndrome Caused by a defect affecting the methylation and expression of the FMR1 gene; a triplet repeat disorder that may show genetic anticipation. X-linked dominant. The second most common genetic cause of intellectual disabilities. Clinical features:- Intellecutal disability- Delayed language development, autistic behavior- Long and narrow face- Large jaw and ears - Large testicles- Beyond average height and head circumference- Mitral valve prolapse- Hyperactivity- Focal seizures Diagnostics:- PCR, Southern blot- Echocardiography: To exclude mitral valve prolapse
• Fabry disease Caused by a deficiency of α-galactosidase A that leads to accumulation of ceramide trihexoside in the heart, brain, and kidneys. X-linked recessive. The first sign is severe neuropathic limb pain; also presents with joint swelling.Skin involvement takes the form of angiokeratomas and telangiectasias.Findings include renal failure and an ↑ risk of stroke and MI (thromboembolic events).
• Krabbe disease Absence of galactosylceramide and galactoside (due to galactosylceramidase deficiency), leading to the accumulation of galactocerebroside in the brain. Autosomal recessive. Characterized by progressive CNS degeneration, optic atrophy, spasticity, and death within the first 3 years of life.
• Gaucher disease Caused by a deficiency of glucocerebrosidase that leads to the accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Autosomal recessive. Gaucher cells have a characteristic "crinkled paper" appearance with enlarged cytoplasm. May present with anemia and thrombocytopenia. The infantile form results in early, rapid neurologic decline. The adult form (more common) is compatible with a normal life span and does not affect the brain.
• Niemann-Pick disease A deficiency of sphingomyelinase that leads to the buildup of sphingomyelin cholesterol in reticuloendothelial and parenchymal cells and tissues.  May present with a cherry-red spot and hepatosplenomegaly. No man picks his nose with his sphinger
• Tay-Sachs disease An absence of hexosaminidase that leads to GM2 ganglioside accumulation. Infants may appear normal until 3-6 months of age, when weakness begins and development slows and regresses. An exaggerated startle response may be seen. Autosomal recessive. Death occurs by age 3. Presents with a cherry-red spot but no hepatosplenomegaly (--> Niemann-Pick). The carrier rate is 1 in 30 Jews of European descent. Tax-SaX lacks hexosaminidase
• Metachromatic leukodystrophy A deficiency of arylsulfatase A that leads to the accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves. Autosomal recessive. Demyelination leads to progressive ataxia and dementia.
• Hurler syndrome A deficiency of α-L-iduronidase. Autosomal recessive. Leads to corneal clouding, intellectual disabilities, and gargoylism.
• Hunter syndrome A deficiency of iduronate sulfatase. X-linked recessive. A mild form of Hurler syndrome with no corneal clouding and mild intellectual disabilities. Hunters need to see (no corneal clouding) to aim for the X.
• Intussusception A condition in which a portion of the bowel invaginates or "telescopes" into an adjacent segment, usually proximal to the ileocecal valve. Epidemiology:- Sex: ♂ > ♀ (3:2)- Peak incidence: 3-12 months; otherwise commonly occurs in children 5 months to 6 years of age - One of the most common causes of bowel obstruction in childhood Etiology:- Mostly idiopathic - Pathological lead points: → Meckel's diverticulum (most common)→ Intestinal polyps or other tumors (2nd most common)→ Bowel wall thickening in Henoch-Schönlein purpura→ Recent rotavirus immunization→ Cystic fibrosis Clinical features:- Acute cyclical colicky abdominal pain (sudden screaming or crying spells), often with legs drawn up- Acute attacks occur approx. every 15-30 min. - Vomiting (initially nonbilious)- Lethargy, pallor- Abdominal tenderness, palpable sausage-shaped mass in the RUQ , and an “emptiness” or retraction in the right lower quadrant (Dance sign) during palpation - High-pitched bowel sounds on auscultation - "Currant jelly stool" Diagnosis:- If clinical suspicion is high: perform enema- If the diagnosis is unclear at presentation or pathological lead points are suspected: perform radiographic imaging (ultrasound or abdominal x-ray) to confirm the diagnosis.→ "Target sign" Treatment:- Initial steps: nasogastric decompression and fluid resuscitation- Nonsurgical management: Air (pneumatic) enema: treatment of choice→ Observe for 24 hours post-reduction, as there is a small risk of perforation and recurrence is common during this period- Open or laparoscopic method: Hutchinson maneuver: manual proximal bowel compression and reduction of intussusception
• Pyloric stenosis Hypertrophy of the pyloric sphincter, leading to gastric outlet obstruction. Epidemiology:Sex: ♂ > ♀ (∼ 5:1)Peak incidence: 3-6 weeks of age (rarely presents after 12 weeks of age) Etiology:- Exposure to nicotine during pregnancy- Bottle feeding- Genetic factors: patients with affected relatives have a higher risk of hypertrophic pyloric stenosis- Macrolide antibiotics Clinical features:- Frequent regurgitation progressing to projectile, nonbilious vomiting immediately after feeding- An enlarged, thickened, "olive-shaped”, non-tender pylorus (diameter of 1-2 cm) should be palpable in the epigastrium- A peristaltic wave, moving from left to right, may be evident in the epigastrium- "Hungry vomiter": demands re-feeding after vomiting, demonstrates a strong rooting and sucking reflex, irritable- If left untreated: dehydration, weight loss, failure to thrive Diagnostics:- Initial imaging: Abdominal ultrasound → shows an elongated and thickened pylorus- If ultrasound is inconclusive: Barium studies; Endoscopy- Laboratory tests: Hypochloremic, hypokalemic metabolic alkalosis Treatment:- Before surgery: Correct electrolyte imbalance (e.g., replace K+), IV rehydration- Treatment of choice: Ramstedt pyloromyotomy
• Meckel diverticulum The most common congenital anomaly of the gastrointestinal tract and is caused by an incomplete obliteration of the omphalomesenteric duct. True diverticulum. Epidemiology:- ∼ 2% of the population- Sex: ♂ > ♀ (2:1)- Age: < 2 years of age Clinical features- Asymptomatic (∼ 96%)- Painless lower gastrointestinal bleeding (most common presentation)- Hematochezia - Tarry stools- Currant jelly stools Diagnostics:- Meckel scintigraphy scan: Technetium-99m pertechnetate; detects ectopic gastric tissue Treatment: Surgical excision together with the adjacent ileal segment, which may be ulcerated.
• Hirschsprung disease Congenital lack of ganglion cells in the rectosigmoid region, which fails to relax leading to functional intestinal obstruction. - Sex: ♂ > ♀ (4:1) - Associations: Trisomy 21 and additional syndromes (e.g., MEN2 and Waardenburg syndrome) - Risk factor: Family history  Clinical features:- Delayed passage of meconium- Distal intestinal obstruction: abdominal distention and bilious vomiting- Tight anal sphincter with explosive release of stools and air upon removal of the finger- Failure to thrive/poor feeding- Palpation of feces via the abdominal wall Diagnosis:- Abdominal x-ray: Best initial test- Barium enema- Anorectal manometry: Absent relaxation reflex- Rectal biopsy: Confirmatory test→ Absence of ganglion cells in an adequate tissue sample→ Elevated acetylcholinesterase activity Treatment: Two-stage surgical repair 1. First stage: diverting colostomy to relieve the dilated bowel2. Second stage:- Resection of the aganglionic segment- Anastomoses of the normal ganglionic colon segment to either the distal modified rectum or normal (unmodified) distal rectum.
• Necrotizing entercolitis A condition in which a portion of the bowel (most commonly the terminal ileus/proximal colon) undergoes necrosis.  Epidemiology:- More common in premature infants- Peak incidence: 2nd-4th week after birth (not during the first week!) Clinical features: Bell staging criteria- Stage I (Suspected NEC): Lethargy, distended and shiny abdomen, gastric retention, vomiting, diarrhea, rectal bleeding- Stage II (Proven NEC): Stage I symptoms + abdominal tenderness, visible intestinal loops lacking peristalsis- Stage III (Advanced NEC): Intestinal perforation, symptoms of sepsis, flank redness Diagnosis:- Lab: ↑ Inflammatory markers; Check for signs of DIC - Arterial blood gas analysis: Metabolic acidosis- Blood culture- Abdominal x-ray:→ Pneumatosis intestinalis: Bubbles of gas within the wall of the intestine→ Portal venous gas (pneumatosis hepatis)→ Increased intestinal wall thickness→ Dilated intestinal loops→ Air‑fluid levels→ Pneumoperitoneum as a result of intestinal perforation Treatment:- Supportive: NPO, an orogastric tube for gastric decompression, TPN- IV broad-spectrum antibiotics- Radiographic monitoring: plain supine abdominal radiographs every 6-12 hours in the initial phase of the disease- Surgery: primary peritoneal drainage and/or laparotomy with necrotic bowel excision→ Indications: perforation, peritonitis and/or clinical worsening despite medical therapy
• Immunodeficiency disorders Congenital immunodeficiencies often present with chronic or recurrent infections, unusual or opportunistic organisms, incomplete treatment response, or FTT. B-cell deficiencies: Most common (50%). Typically present after 6 months of age with recurrent sinopulmonary, GI, and urinary tract infections with encapsulated organisms (H. influenzae, S. pneumoniae, N. meningitidis). Treat with IVIG (except for IgA deficiencies).- Bruton agammaglobulinemia can be confused with transient hypogammaglobulinemia (THI) of infancy, as both are characterized by ↑ susceptibility to infections at ~6 months of age, when transplancental maternal IgG is no longer active. B cells are ↓ in Bruton, whereas those in THI are normal.- Bruton agammaglobulinemia and common variable immunodeficiency disorder (CVID) also have similar symptoms, but the former is found in boys ~6 months of age, where as CVID is seen in older men and women (15-35 years of age), and its symptoms are less severe. T-cell deficiencies: Tend to present earlier (1-3 months) with opportunistic and low-grade fungal, viral, and intercellular bacterial infections (eg, mycobacteria).  Phagocyte deficiencies: Characterized by mucosal membrane infections, abscesses, and poor wound healing. Infections with catalase-+ organisms (eg, S aureus), fungi and gram - enteric organisms are common. Complement deficiencies: Present in children with congenital aplasia or splenic dysfunction (sickle cell disease). Characterized by recurrent bacterial infections with encapsulated organisms.
• Bruton agammaglobulinemia An X-linked recessive B-cell deficiency found only in boys. Symptoms begin after 6 months of age, when maternal IgG (transferred transplacentally) is no longer active. Clinical features:- Recurrent sinopulmonaty & gastrointestinal infections after age 6 months- Absence of lymphoid tissue on examination (eg, tonsils, lymph nodes)- Life-threatening; characterized by encapsulated Pseudomonas, S. pneumoniae, and Haemophilus infections Diagnosis: - ↓ Quantative Ig levels. - Normal T cell concentration- No response to vaccinations- Absent tonsils and other lymphoid tissue may provide a clue. Treatment: Prophylactic antibiotics and IVIG.
• IgA deficiency Mild; the most common immunodeficiency. ↓ IgA levels only. Usually asymptomatic; patients may develop recurrent respiratory or GI infections (Giardia).Anaphylactic transfusion reaction due to anti-IgA antibodies is a common presentation. Quantitative IgA levels; treat infections. Be careful giving IVIG, as it can lead to the production of anti-IgA antibodies and cause severe allergic reactions. 
• Ataxia-teleangiectasia Defects in ATM gene → ?failure to detect DNA damage ?failure to halt progression of cell cycle? → mutations accumulate; autosomal recessive. Triad:1. Cerebellar ataxia 2. Oculocutaneous telangiectasias3. IgA deficiency↑ incidence of malignancies, including non-Hodgkin lymphoma, leukemia, and gastric carcinoma. Diagnostics:- ↑ AFP- ↓ IgA, IgG, and IgE- Lymphopenia, cerebellar atrophy No specific treatment; may require IVIG
• Severe combined immunodeficiency (SCID) A rare genetic condition caused by developmental defect of functional B and T cells resulting from numerous genetic mutations Etiology: - Mutations in the gene encoding the common gamma chain: defective IL-2R gamma chain (most common SCID mutation: X-linked)- Adenosine deaminase (ADA) deficiency: autosomal recessive Clinical presentation:- Normal at birth- Severe, recurrent infections: bacterial diarrhea, chronic candidiasis, viral, and protozoal infections- Failure to thrive- Lymph nodes and tonsils may be absent Diagnosis:- Quantitative PCR: ↓ T-cell receptor excision circles (TRECs)- Absent T cells- CXR: absence of thymic shadow- Lymph node biopsy: absence of germinal centers Treatment:- IV immunoglobulins- PCP prophylaxis- Bone marrow or stem cell transplantation
• Wiskott-Aldrich syndrome Inherited syndrome with impaired T-cell function and thrombocytopenia. Etiology: mutated WAS protein (x-linked recessive inheritance) → impaired signaling to actin cytoskeleton reorganization Epidemiology: primarily in males Clinical presentation:- Onset of symptoms: from birth- Classic triad1. Eczema (high risk of atopic disorders)2. Bleeding diathesis3. Recurrent opportunistic infections in the first years of life- Increased risk of autoimmune diseases and hematological malignancies Diagnosis:- Normal or ↓ IgG and IgM- ↑ IgE and IgA- Thrombocytopenia with small platelets- Genetic analysis (confirmatory test): presence of mutated WAS gene Treatment:- IV immunoglobulin therapy- Prophylactic antibiotics- Platelet transfusions- Stem cell transplantation may be curative.
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• Chronic granulomatous disease (CGD) Deficiency of superoxide production by polymorphoneutrophils and macrophages → ability to ingest but not kill microorganisms Etiology: defective phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (X-linked or autosomal recessive inheritance) Clinical features:- Recurrent, severe infections (chronic skin, lymph node, bone, respiratory, GI, and urinary tract) by catalase-positive organisms (S. aureus, Serratia, Burkholderia, E. coli, Candida, Klebsiella, Pseudomonas, Aspergillus)- Anemia and lymphadenopathy- Granulomas may be seen on the skin. Diagnosis:- Dihydrorhodamine test (DHR): flow cytometry test showing abnormal NADPH activity (inability to metabolize dihydrorhodamine to fluorescent product, rhodamine)- Nitroblue tetrazolium dye reduction test, normally negative, is rarely used in contemporary practice- Absolute neutrophil count with neutrophil assay Treatment:- Life-long prophylactic antibiotics (TMP-SMX for catalase-positive infections)- IFN-γ therapy- Bone marrow transplant is definitive treatment.
• Leukocyte adhesion deficiency Defect in the leukocytic chemotaxis. Etiology: Defect in LFA-1 integrin (CD18) (autosomal recessive) → leukocytes are unable to migrate into tissues during infection or inflammation Clinical features:- Recurrent skin & mucosal bacterial infections (eg, omphalitis, peridonditis)→ No pus→ Poor wound healing- Delayed umbilical cord separation (> 21 days)- Omphalitis in the newborn (delayed separation of the cord) Diagnosis:- Marked leukocytosis with neutrophilia- Flow cytometry: absent CD18, CD11a, CD11b, and CD11c Treatment:- Prevention of infections (e.g., adequate dental hygiene)- Bone marrow transplant is definitive treatment
• Chédiak-Higaski syndrome Defect in neutrophil chemotaxis/microtubule polymerization Etiology: autosomal recessive defective lysosomal trafficking regulator gene (LYST) Clinical features- Recurrent pyogenic infections - Partial albinism- Progressive neuropathies: tingling and other paresthesias in limbs Diagnosis:- Peripheral smear shows giant cytoplasmic granules in granulocytes and platelets- Mild coagulation abnormalities Treatment: bone marrow transplant
• Job syndrome (Hyperimmunoglobulin E syndrome) A defect in neutrophil chemotaxis. Remember the mnemonic FATED:- Coarse Facies- Abscesses- Retained primary Teeth- Hyper-IgE- Dermatologic (severe eczema) Recurrent S. aureus infections and abscesses. Treat with penicillinase-resistant antibiotics and IVIG.
• C1 esterase inhibitor deficiency (hereditary angioedema) - Autosomal dominant inheritance- Possible triggers: trauma, surgery, dental procedure, infections, or pharmacotherapeutic agents Clinical features:- Family history often present- Clinical manifestations in childhood or adolescence- Abdominal symptoms: colicky abdominal pain, nausea/vomiting, diarrhea- Angioedema of the extremities or trunk- Not associated with urticaria or pruritus Diagnostics:- Total hemolytic complement (CH50) to assess the quantity and function of complement.  Treatment:- Acute: purified C1-INH concentrate, bradykinin-B2-receptor antagonist (icatibant), kallikrein inhibitor (ecallantide); FFP if other therapies are unavailable Prophylaxis: long-term prophylaxis with attenuated androgens (e.g., danazol) or plasma-derived C1-INH concentrate
• Terminal complement deficiency (C5-C9) Inability to form antigen-antibody (MAC) complex → defective opsonization, phagocytosis, and killing of organisms and a defective clearance of antigen-antibody complexes. Epidemiology: C5, C6, or C8 deficiency is the most common Etiology: autosomal recessive pattern Clinical features:- Recurrent Neisseria (e.g. meningococcal) or gonococcal pyogenic infections- Occasionally associated with lupus or glomerulonephritis Diagnosis: CH50 assay screening test Treatment- Meningococcal vaccine- Prophylactic antibiotics
• Kawasaki disease A multisystemic acute vasculitis that primarly affects young chilren (80% are <5 years of age), particularly those of Asian ancestry. Divided into acute, subacute, and chronic phases. Acute phase: 1-2 weeks from onsetSubacute phase: 2-8 weeks from onset. Manifestations are thrombocytosis and elevated ESR. Untreated children may begin to develop coronary artery aneurysms (40%).Chronic phase: >8 weeks from onset; begins when all clinical symptoms have disappeared. Untreated children are at risk of aneurysmal expansion and MI. Clincal manifestations: 5 days of fevere and at least 4 of the following 5 criteria:1. Bilateral, painless conjunctivitis2. Oral mucosal changes: "strawberry tongue," or cracked lips3. Rash4. Induration of hands and feet, erythematous and desquamating palms and soles5. Cervical lymphadenopathy Diagnosis:- Acute phase: Normochromic anemia, leukocytosis with left shift, high ESR and CRP.- Subacute phase: Thrombocytosis. ESR and CRP gradually decrease.- Echocardiogram at time of diagnosis to establish a baseline for longitudinal follow-up of coronary artery morphology.  Treatment: High-dose ASA (for antiinflammatory, antipyretic, and antithrombotic effects) and IVIG.
• Juvenile idiopathic arthritis An autoimmune disorder manifesting as arthritis with "morning stiffness" and gradual loss of motion that is present for at least 6 weeks in a patient <16 years of age. Approximately 95% of cases resolve by puberty. More common in girls than in boys. Subtypes:Oligoarticular:- Involves ≤ 4 joints; no systemic symptoms- Uveitis is common- ANA +, RF -- Most common presentation of JIA.Polyarticular:- ≥ 5 joints; generally symmetric; systemic symptoms rare- RF positivity is rare, rheumatoid nodules may be seen if RF +Systemic-onset (Still disease):- Recurrent high fever (>39°C)- Hepatosplenomegaly- Salmon-colored macular rash- ANA -, RF - Diagnostics:- Elevated inflammatory markers (ESR, CRP)- Hyperferritinemia- Hypergammaglobulinemia- Leukocytosis, thrombocytosis- Anemia Treatment: NSAIDs and strengthening exercises.
• Vesicoureteral reflux Retrograde projection of urine from the bladder to the ureters and kidneys. Etiology:- Posterior urethral valves- Urethral meatal stenosis- Neurogenic bladder- Congenital anomalies of the ureter: Ureter duplex, ectopic ureter Classified as follows:- Mild reflux (grades I-II): No ureteral or renal pelvic dilation. Often resolves sponteously.- Moderate to severe reflux (grade III-V): Ureteral dilation with associated caliceal bluting in severe cases. Clinical features:- Suspected in the prenatal period when hydronephrosis is detected on routine antenatal ultrasound- Recurrent febrile urinary tract infections→ Neonates: irritability, fever, and listlessness→ Older children: urinary urgency, frequency, incontinence, and dysuria associated with fever- Reflux nephropathy: renovascular hypertension, kidney failure, uremia Diagnostics:- Ultrasound- Contrast voiding cystourethrogram (micturating cystourethrogram) Treatment:- Treat mild reflux with daily prophylactic antibiotics until reflux resolves→ Infants <2 months: Amoxicillin → Children >3 months: TMP-SMX or nitrofurantoin - Surgery is generally reserved for children with high-grade (III-V) reflux.
• Cryptorchidism Failure of one or both of the testes to fully descend into the scrotum. Risk factor: - Low birth weight (< 2.5 kg)- Prematurity- Small for gestational age- Genetic disorders Clinical presentation:- Empty, hypoplasic, poorly rugated scrotum- ± Inguinal fullness Diagnosis:The testes cannot be manipulated into the scrotal sac with gentle pressure (vs retractile testes) and can be palpated anywhere along the inguinal canal or in the abdomen. Treatment:- Surgery is recommended < 1 year - Orchiopexy: exposure and fastening of the testicle to the scrotum- Orchiectomy if discovered after puberty to minimize the risk of testicular cancer. Complications: Testicular cancer, testicular torsion, inguinal hernia, infertility
• Slipped capital femoral epiphysis Posterior and inferior displacement of the femoral head in relation to the femoral neck at the proximal femoral growth plate. Epidemiology:- Most common hip disorder in adolescents.- Peak incidence: 10-16 years (often occurs during a growth spurt)- Sex: ♂ > ♀ Risk factors:- Obesity- Family history- Trauma (e.g., sports-related injury or fall) Clinical features:- Acute, chronic (3 weeks to several months), or acute on chronic onset- Dull pain in the medial thigh, knee, groin, or hip pain (often left > right)- Sudden limp- Reduced internal rotation and abduction- Patients may hold their hip in passive external rotation- Drehmann sign positive: external rotation and abduction during passive flexion of the affected hip in supine position- Bilateral in ∼ 40% of cases Diagnostics:- Confirmatory test: x-ray in frog-leg position→ Widening of the joint space→ The femoral head is displaced posteriorly and inferiorly in relation to the femoral neck.- Consider laboratory tests to exclude endocrinopathies in patients with an atypical age of onset or short stature. Treatment:- Avoid weight bearing before stabilization- Urgent surgical internal fixation with pinning of the femoral head- Prophylactic fixation of the contralateral hip Complications:- Avascular necrosis of the femoral head- Early hip osteoarthritis
• Otitis media A suppurative infection of the middle ear cavity that is common in children.- Up to 75% of children have at least 3 episodes by age 2. Pathogens: - Bacterial: S. pneumoniae, nontypeable H. influenzae, M. catarrhalis- Viruses: Influenza, RSV, parainfluenza virus Risk factors: Bottle feeding, passive smoke, children who attend day care centers Clinical presentation:- Ear pain- Fever- Crying, irritability, difficulty feeding or sleeping- Vomiting, diarrhea- Young children may tug on their ears Diagnostics:- Pneumatic otoscopy:→ TM is opaque, yellow-colored, may be retracted→ Air-fluid level behind the TM→ Pneumatic insufflation: A little puff of air reveals a tense immobile membrane- Tuning fork test: conductive hearing loss Treatment:- Symptomatic pain management (paracetamol, ibuprofen)- Antibiotics if bilateral/symptoms do not improve after 48 hours/severe illness→ High-dose amoxicillin (80-90 mg/kg/day) × 10 days→ Resistant cases require amoxicillin/clavulanic acid→ Re-recurs (3x in 6 months or 4x in 12 months) require tymanoplasty→ If non-anaphylactic penicillin allergy, use cefdinir→ If anaphylactic penicillin allergy, use azithromycin Complications: TM perforation, mastoiditis, meningitis, cholesteatomas, chronic otitis media. Recurrent otitis media can cause hearing loss with resultant speech and language delay. Chronic otitis media may require tympanostomy tubes.
• Bronchiolitis An acute inflammatory illness of the small airways of the lower respiratory tract. - Primarily affects children < 2 years of age- Common during winter months Etiology:- Respiratory syncytial virus (RSV)- Less common: parainfluenza virus, influenza virus, adenovirus, rhinovirus, coronavirus, metapneumovirus Risk factors for severe disease: Prematurity, congenital heart or lung disease, neurologic disease, immunodeficiency Clinical presentation:- Upper respiratory tract symptoms: Rhinorrhea, fever, cough- Respiratory distress → Tachypnea, prolonged expiration→ Nasal flaring, intercostal retractions→ Cyanosis- Poor feeding in breastfed infants- Auscultatory findings: wheezing, crackles- An ↑ respiratory rate is the earliest and most sensitive vital sign change. Diagnostics: Clinical - Additional testing (not routinely done): Nasopharyngeal aspirate test for RSV, chest x-ray: hyperinflation of the lungs, interstitial infiltrates, atelectasis Treatment:- Supportive treatment (adequate hydration, relief of nasal congestion/obstruction, monitoring)- Contact isolation- Hospitalization criteria:→ Oxygen SpO2 < 90%→ Prematurity→ Age < 3 months→ Cardiopulmonary abnormality→ Immunodeficiency- No steroids  Prevention: RSV prophylaxis with palivizumab is recommended in autumn/winter for high-risk patients ≤ 2 years of age (eg, those with a history of prematurity, chronic lung disease, or congenital heart disease).
• Croup (laryngeotracheobronchitis) An acute viral inflammatory disease of the larynx, primarily within the subglottic space (proximal trachea).- Peak incidence: 6 months to 3 years- Most common in fall and winter Etiology:- Parainfluenza virus (75% of cases), respiratory syncytial virus, adenovirus, influenza virus Clinical presentation:- Prodromal URI symptoms: Rhinitis (coryza) with nasal discharge and congestion, low-grade fever- Inspiratory stridor - Barking cough which worsens at night- Dyspnea, pronounced thoracic retractions- May result in pulsus parodoxus secondary to upper airway obstruction Diagnosis: Clinical- X-ray of chest and neck: helps to verify subglottic narrowing, usually called the “steeple sign” Differential:- Asthma/obstructive bronchitis: asthma is characterized by intrathoracic narrowing, which leads to expiratory stridor. Croup, on the other hand, is characterized by extrathoracic narrowing, which leads to inspiratory stridor!- Pneumonia: No inspiratory stridor; mainly a productive cough, high fever, rales (bubbling sounds)- Laryngomalacia Treatment:- Mild cases: Outpatient management with cool mist therapy and fluids.- Moderate cases: Nebulized racemic epinephrine, oral or IM dexamethasone, supplemental O2- Severe cases: Hospitalize and give nebulized racemic epinephrine; consider intubation if there is danger of airway compromise.
• Epiglottitis A serious and rapidly progressive infection of supraglottic structures (e.g., the epiglottis and aryepiglottic folds).- Peak incidence: 6-12 years Pathogens:- Traditionally: Haemophilus influenzae type b (Hib)- Most cases now involve: Streptococcus pyogenes, Streptococcus pneumoniae, non-typable H. influenzae Clinical presentation:- Presents with acute-onset high fever (39-40°C)- Sore throat, dysphagia- Drooling- Muffled voice, (i.e., resembling a “hot-potato” voice) - Respiratory distress (inspiratory retractions, cyanosis) and inspiratory stridor- “Tripod” position (the airway diameter is increased by leaning forward and extending the neck in a seated position) Diagnosis: Clinical- The airway must be secured before a definitive diagnosis can be made. - Pharyngoscopy: Cherry-red, swollen epiglottis and arytenoids.- Lateral x-ray: “thumbprint sign” Treatment: Remember the ABCs; secure the airway first with endotracheal intubation or tracheostomy, and then give IV antibiotics (ceftriaxone or cefuroxime).
• Meningitis Etiology: - < 1 month: Group B Streptococcus, Escherichia coli, Listeria monocytogenes- Infants (1 month-2 years): Streptococcus pneumoniae, Neisseria meningitidis, Listeria monocytogenes Risk factors: sinofacial infections, trauma, immunodeficiency, and sepsis. Clinical presentation:- Bacterial meningitis: Triad of headache, high fever, and nuchal rigidity.- Viral meningitis: typically preceded by a prodromal illness that includes fever, sore throat, and fatigue.- Kernig sign: reluctance of knee extension when the hip is flexed- Brudzinski sign: hips are flexed in response to forced flexion of the neck - Signs of ↑ ICP (papilledema, cranial nerve palsies)- Petechial rash (N meningitidis)- Signs in neonates include lethargy, hyper- or hypothermia, poor tone, a bulging fontanelle, and vomiting. Diagnosis:- Blood cultures- Obtain a head CT to rule out ↑ ICP (risk of brainstem herniation) if the patient is at high risk (ie, exhibits neurologic deficits or has papilledema on funduscopic exam).- Perform an LP; send cell count with differential, glucose and protein levels, Gram stain, and culture. Treatment:- Neonates: Ampicillin + cefotaxime + gentamicin- Older children (> 1 month): Ceftriaxone + vancomycin- Dexamethasone for Hemophilus influenzae type b meningitis Complications:- Intellectual/behavioral disabilities- Hearing loss- Cerebral palsy- Epilepsy
• APGAR Score - Used for clinical assessment of newborns at 1 and 5 minutes after birth- Infants with scores < 7 may require further intervention Reassuring: 7-10Moderately abnormal: 4-6Low: 0-3 Appearance (skin color): Blue (cyanotic) or pale / Pink trunk, blue extremities (acrocyanosis) / Pink body and extremitiesPulse (heart rate): None / <100 beats/min / ≥100 beats/minGrimace (reflex irritability upon tactile stimulation): None / Grimace / Cry or active withdrawalActivity (muscle tone, movement): No movement, limp body / Some flexion / Active motion, flexionRespirations: None / Weak cry / Regular breathing, strong cry
• Respiratory distress syndrome Incidence- 1% of all newborns- 10% of all preterm babies Etiology:- Impaired synthesis and secretion of surfactant Risk factors: Prematurity, cesarean section, maternal diabetes mellitus, multifetal pregnancies, male gender Clinical presentation:- History of premature birth- Onset of symptoms: usually presents immediately after birth- Signs of increased breathing effort→ Tachypnea→ Nasal flaring and subcostal/intercostal and jugular retractions→ Typical expiratory “grunting”- Auscultation: decreased breath sounds- Cyanosis due to peripheral hypoxic vasoconstriction Diagnosis: - Blood gas analysis: Hypoxia with respiratory acidosis; can also lead to increased lactate levels- Chest x-ray: diffuse, fine, reticulogranular (ground-glass) densities, with low lung volumes and air bronchograms- Prenatal testing for NRDS: Amniocentesis→ Lecithin-sphingomyelin ratio < 1.5→ Foam stability index < 0.48→ Low surfactant-albumin ratio Differential: Pulmonary hypoplasia, wet lung disease, diaphragmatic hernia, pneumothorax, meconium aspiration syndrome, pneumonia Treatment:- Ventilation:1. Nasal CPAP with a PEEP of 3-8 cm H2O2. If respiratory insufficiency persists, intubation with mechanical ventilationand O2 inhalation- Endotracheal administration of artificial surfactant within 2 hours postpartum Complications: Bronchopulmonary dysplasia, retinopathy of prematurity, patent ductus arteriosus, intraventricular hemorrhage, NEC
• Leukemia A hematopoietic malignancy of lymphocytic or myeloblastic origin. - The most common childhood malignancy (ALL > AML)- ALL is most common in white boys between 2 and 5 years of age- AML is seen most frequently in black boys throughout childhood. - Associated with trisomy 21, Fanconi anemia, prior radiation, SCID, and congenital bone marrow failure states. Clinical presentation:- Symptoms are abrupt in onset. - Anorexia, fatigue, followed by bone pain with limp or refusal to bear weight, fever (from neutropenia), anemia, ecchymoses, petechiae, and/or hepatosplenomegaly.- CNS metastases may be associated with headache, vomiting, and papilledema.- AML can present with a chloroma, a greenish soft-tissue tumor on the skin or spinal cord. Diagnosis:- CBC, coagulation studies, and peripheral blood smear, which shows high numbers of blasts (lymphoblasts are found in 90% of cases). WBC counts can be low, normal, or high.- A bone marrow aspirate and biopsy for immunophenotyping and genetic analysis are necessary to confirm the diagnosis. The diagnosis is made if bone marrow is hypercellular with ↑ lymphoblasts.→ ALL: TdT assay→ AML: MPO- CXR to rule out a mediastinal mass. Treatment:- Chemotherapy based, including induction, consolidation, and maintenance phases.- Intrathecal chemotherapy→ ALL: vincristine, glucocorticoids, asparaginase→ AML: cytarabine and anthracyclines (e.g., daunorubicin)
• Neuroblastoma A malignant embryonal tumor of neural crest origin. - More than half of patients are < 2 years of age - Associated with neurofibromatosis, Hirschsprung disease, and the N-myc oncogene. Clinical presentation:- Location: Abdominal (60%) > thoracic > cervical- Nontender abdominal mass (may cross the midline)- Horner syndrome- Hypertension- Cord compression (from a paraspinal tumor)- Patients may have anemia, FTT, and fever.- >50% of patients will have metastases at diagnosis. Signs include bone marrow suppression, proptosis, hepatomegaly, subcutaneous nodules, and opsoclonus/myoclonus. Diagnosis:- Fine-needle aspirate: Histologically appears as small, round, blue tumor cells with a characteristic rosette pattern.- Elevated 24-hour urinary catecholamines (vanillylmandelic acid and homovanillic acid).- CT scan, bone scan, and bone marrow aspirate: for staging. Treatment: Local excision plus postsurgical chemotherapy and/or radiation.

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