Pediatrics Shelf
Presentation of acute iron poisoning
Abdominal pain, diarrhea, hematemesis Hypovolemic shock due to fluid losses Anion gap metabolic acidosis (due to hydrogen ion production during iron absorption and lactic acid production in shock)
Presentation of tuberculous meningitis
Abnormal lung exam Travel history or social history Gradual onset of nonspecific fever, headache, fatigue Rapid progression to lethargy, nuchal rigidity, neurologic deficits, seizures CSF analysis: WBC elevated (lymphocyte predominant), protein elevated, glucose low
HPV vaccination schedule
Ages 9-14: Requires 2 doses, 6 months apart to achieve full immunity Ages ≥15: Requires 3 doses to achieve full immunity (second dose at 1-2 months, third dose at 6 months)
Presentation of congenital adrenal hyperplasia
Ambiguous genitalia in girls Normal electrolytes at birth (due to maternal adrenal hormones) Electrolyte abnormalities (decreased Na, increased K), hypotension, dehydration, and vomiting present at 1-2 weeks
Empiric treatment of neonatal sepsis
Ampicillin (to cover Group B Strep) Gentamicin (to cover E coli)
Presentation of tuberous sclerosis
Ash-leaf spots (hypopigmented, elliptical macules) Seizures or infantile spasms, intellectual disability, autism or behavioral disorders CNS: subependymal giant cell tumors Cardiac: rhabdomyomas Renal: angiomyolipomas
Diagnosis of tracheoesophageal fistula with esophageal atresia
Attempt to place NG tube Obtain CXR to confirm location of NG tube
Diagnosis of bacterial, viral, fungal, vs. tuberculous meningitis based on CSF analysis
Bacterial meningitis: WBC markedly elevated (neutrophil predominant) Protein elevated Glucose low Viral meningitis: WBC elevated (lymphocyte predominant) Protein normal or mildly elevated Glucose normal or mildly low Fungal or tuberculous meningitis: WBC elevated (lymphocyte predominant) Protein elevated Glucose low
Presentation of branchial cleft cyst and thyroglossal duct cyst
Branchial cleft cyst: lateral neck mass, anterior to SCM Thyroglossal duct cyst: medial neck mass, moves with swallowing Often presents when secondarily infected following URI ± Associated erythema, tenderness, fluid drainageP
Cause, pesentation, and treatment of common variable immunodeficiency
Cause: Abnormal differentiation of B cells -> decreased immunoglobulin production Presentation: Presents in adolescents or young adults Recurrent sinopulmonary infections, frequently from encapsulated bacteria (Strep pneumo, H flu) Recurrent GI infections (Salmonella, Campylobacter, Giardia) Failure to thrive Risk of asthma or bronchiectasis Risk of autoimmune disease Diagnosis: Decreased IgG, IgM, IgA (despite normal B cell concentrations) No antibody response to vaccination Treatment: IV Ig
Cause, presentation, and treatment of immune thrombocytopenia purpura
Cause: Autoantibodies to platelets Preceding viral infection Presentation: Mucosal bleeding (epistaxis, heavy menses) Petechiae, ecchymoses Isolated thrombocytopenia <100K Treatment: If bleeding, IVIG and steroids
Cause and presentation of Fanconi anemia
Cause: Defect in DNA repair -> bone marrow failure / aplastic anemia Presentation: Short stature Hypo- or hyper-pigmented macules Hypoplastic thumbs Genitourinary anomalies Pancytopenia
Cause and presentation of Kallmann syndrome
Cause: Defect in migration of olfactory neurons and GnRH-producing neurons during development Presentation: Anosmia Pubertal delay Diagnosis: Low FSH and LH (vs. high FSH and LH due to ovarian insufficiency in Turner syndrome)
Cause and presentation of Gaucher disease
Cause: Glucocerebrosidase deficiency -> lipid-laden macrophages in bones, liver, and spleen Most common lysosomal storage disease Presentation: Onset varies from infancy to adulthood Anemia, thrombocytopenia Bone pain, fractures Hepatosplenomegaly Pubertal delay, poor growth Treatment: Enzyme replacement
Presentation and treatment of of neonatal abstinence syndrome
Cause: In utero exposure to opioids Presentation: Poorly arousable at birth (opioid intoxication) Irritability, hypertonia, tremors, poor sleep, difficulty feeding, vomiting, diarrhea, starting hours to days after birth (opioid withdrawal) Diagnosis: Often clinical, but can confirm with urine or meconium drug screening Treatment: Swaddling, dim lights, gentle rocking for mild withdrawal Morphine, methadone for severe withdrawal
Presentation of infant botulism
Cause: Ingestion of honey contaminated with Clostridium botulinum Occurs at age <1 Presentation: Irritability, poor feeding, constipation Hypotonia, hyporeflexia, symmetric descending paralysis Oculobulbar weakness: ptosis, absent gag reflex Autonomic dysfunction
Cause, presentation, and treatment of neonatal transient hypertrophic cardiomyopathy
Cause: Occurs in infants of diabetic mothers Maternal hyperglycemia -> fetal hyperglycemia and hyperinsulinemia -> glycogen and fat deposition in interventricular septum -> dynamic left ventricular outflow obstruction Presentation: Respiratory distress, hypotension, systolic ejection murmur Ranges from asymptomatic to severe Treatment: Beta blockers (reduce heart rate to increase LV filling time and LV EDV, reduce contractility to decrease pressure gradient between LV and aorta)
Cause and presentation of Potter sequence
Cause: Oligohydramnios, secondary to urinary tract obstruction, renal anomalies, or premature premature rupture of membranes Oligohydramnios -> pulmonary hypoplasia and restricted fetal movement -> physical anomalies Presentation: Respiratory distress, cyanosis Flat facies, limb deformities
Presentation and treatment of Syndenham chorea
Cause: Preceding Strep pyogenes infection Molecular mimicry between anti-Strep antibodies and neurons of basal ganglia Presentation: Involuntary, jerky movements, worse with action or anxiety Hypotonia, weakened hand grip Emotional lability, obsessive-compulsive tendencies ± Symptoms of acute rheumatic fever Diagnosis: Throat culture, ASO titer, anti-DNAse B titer Echocardiography, ECG (to evaluate for rheumatic heart disease) Treatment: Chronic penicillin G Haloperidol if symptomatic
Cause and presentation of miliary tuberculosis
Cause: Rare but serious complication of primary TB in infants and immunocompromised hosts Poor T-cell response fails to contain TB, allows for lymphohematogenous spread of TB to liver, spleen, bone marrow, and back to lungs Presentation: Suspect in infants and immunocompromised individuals Fever, cough, respiratory distress for ≥2 weeks Hepatosplenomegaly Diagnosis: False negative TB test (due to poor T-cell response) Diffuse micronodular lesions in lungs, liver, and spleen on CT
Cause and presentation of serum sickness and serum sickness-like reaction
Cause: Serum sickness: foreign proteins (anti-venom, anti-toxin, monoclonal antibodies) trigger antibody response and immune complex deposition Serum sickness-like reaction: beta-lactams or sulfa antibiotics form haptens and trigger T-cell mediated cytotoxicity Presentation: Fever, urticarial rash, and arthralgias Occurs 5-14 days after exposure Resolves spontaneously
Cause and presentation of hemolytic uremic syndrome
Cause: Shiga toxin-producing E.coli or Shigella infection Shiga toxin injures capillary epithelium -> thrombotic microangiopathy (formation of microthrombi) -> platelet consumption, hemolysis due to shearing, renal vascular occlusion Presentation: Preceding diarrheal infection Hemolytic anemia (fatigue, pallor) Thrombocytopenia Acute kidney injury
Causes and presentation of food gastrointestinal illness
Cause: Staph aureus, Bacillus cereus Ingestion of preformed toxin in contaminated food Presentation: Vomiting, occurs 6 hours after exposure
Cause and presentation of scarlet fever
Cause: Strep pyogenes strains that produce erythrogenic exotoxins Presentation: Fever Sore throat, erythematous oropharynx, tonsillar exudates (Strep pharyngitis) Tender anterior cervical lymphadenopathy Strawberry tongue Fine papular rash with sandpaper texture, most prominent in skin folds, desquamation leads to peeling hands and feet
Cause, presentation, and diagnosis of neonatal respiratory distress syndrome
Cause: Surfactant deficiency -> alveolar collapse Presentation: Severe respiratory distress and cyanosis Diagnosis: Low lung volumes, diffuse ground glass opacities, and air bronchograms on CXR
Cause and presentation of Fragile X syndrome
Cause: X-linked dominant Trinucleotide repeat expansion -> methylation and silencing of FMR1 gene Presentation: Developmental (speech and motor) delay, intellectual disability, ASD, ADHD, self-injurious behavior, anxiety Macrocephaly, hypotonia, and joint hypermobility present in infants Prominent forehead, jaw, and ears, and macroorchidism present later in childhood Normal life expectancy Diagnosis: PCR or Southern blot of FMR1 DNA
Causes and presentation of viral gastroenteritis
Causes: Norovirus (most common in all ages) Rotavirus (most common in unvaccinated children at age <2) Fecal-to-oral transmission from person to person (most common) or via ingestion of contaminated food Presentation: Vomiting and watery diarrhea, occurs 1-2 days after exposure
Empiric treatment of epiglottitis
Ceftriaxone (to cover Strep pneumo and H flu) Vancomycin (to cover Staph aureus)
Presentation of primary tuberculosis
Chronic cough >4 weeks ± Fever, weight loss, failure to thrive Hilar adenopathy, focal consolidation (upper or lower lobe), or pleural effusion on CXR
Presentation of CHARGE syndrome
Coboloma (hole in iris of eye) Heart defects Atresia choanal (cyanosis at rest or with feeding, improvement with crying) Retardation of growth Genitourinary anomalies Ear anomalies
Presentation of peritonsillar abscess
Complication of persistent pharyngitis or tonsillitis Fever, sore throat, dysphagia, muffled voice, trismus (lockjaw), ear pain Deviation of uvula away from affected tonsil, pooling of saliva
Criteria for echocardiogram in neonates
Cyanosis, tachypnea, or weak pulses Heart murmur >3 days after birth (physiologic murmur may be present until ductus arteriosus closes 2-3 days after birth)
Definition and presentation of choanal atresia
Definition: Congenital narrowing of posterior nasal cavity Presentation: Cyanosis at rest or with feeding, improvement with crying Diagnosis: Inability to pass catheter beyond proximal nares
Definition, cause, and presentation of amblyopia
Definition: Functional reduction in visual acuity due to disruption in vision during development of visual system Typically unilateral Cause: Strabismus, uncorrected refractive error, cataracts Decreased visual stimulation from affected eye results in preferential development of visual cortex associated with normal eye Presentation: Inability to see Snellen chart, able to count fingers only at a close distance in affected eye
Contraceptive counseling for adolescents
Discuss safe sex practices and contraceptive options at all adolescent well-child visits (as many adolescents becomes sexually active during or immediately after pubertal transition)
Presentation of congenital syphilis
Early presentation: Snuffles (copious rhinorrhea) Nonblanching, maculopapular, desquamating rash on palms, soles, buttock, and legs Long bone abnormalities Nonspecific features of congenital infection (growth restriction, jaundice, hepatosplenomegaly) Late presentation: Saddle nose, notched teeth, saber shins Sensorineural hearing loss Diagnosis: Prenatal screening may be negative (primary maternal infection during pregnancy carries high risk of transmission) RPR or VDLR serologic testing Treatment: Penicillin
Exceptions to informed consent in minors
Emergency care (where delay of treatment is life-threatening) Emancipated minors (parent, married, high school graduate, military service, homeless) Sexually transmitted infections, contraception, pregnancy care (most states), substance use (most states)
Presentation of Erb-Duchenne vs. Klumpke palsy
Erb-Duchenne palsy: Damage to C5-6 nerves "Waiter's tip": extended elbow, pronated arm, flexed wrist and fingers Decreased Moro and biceps reflex Klumke palsy: Damage to C8 and T1 nerves "Claw hand": extended wrist, hyperextended MCP joints, flexed IP joints Absent grasp reflex Horner syndrome (ptosis, miosis)
Presentation of acute HIV infection
Fever Generalized lymphadenopathy Diffuse maculopapular rash Viral meningitis (headache, neck pain) with corresponding CSF analysis (WBC elevated (lymphocyte predominant), protein normal, glucose normal)
Presentation of meningococcal meningitis
Fever, headache, vomiting ± Sore throat (may be confused with Strep pharyngitis) Severe myalgias Mottled skin, cold hands and feet Petechiae, purpura Meningeal signs Altered mental status
Presentation of neonatal gonococcal vs. chlamydial conjunctivitis
Gonococcal conjunctivitis: Severe conjunctival injection, eyelid swelling ,and copious purulent exudate 2-5 days after birth Risk of blindness if untreated Prevention: ophthalmic erythromycin Treatment: IM cefotaxime Chlamydial conjunctivitis: Mild conjunctival injection, eyelid swelling, and water discharge
Treatment of Tourette syndrome
Habit reversal training Anti-dopaminergic anti-psychotics Alpha-2 agonists
Presentation of heat exhaustion vs. exertional heat stroke
Heat exhaustion: Hyperthermia <104 with normal mental status Sweating, nausea/vomiting, headache, dizziness, tachycardia, hypotension Exertional heat stroke: Hyperthermia >104 with altered mental status Otherwise similar symptoms Treatment: Cooling, oral rehydration
Cause and presentation of herpangina vs. herpetic gingivostomatitis
Herpangina: Caused by coxsackievirus A Occurs in late summer-early fall Fever, pharyngitis, grey vesicles on oropharynx Herpetic gingivostomatitis: Caused by HSV 1 Fever, pharyngitis, erythematous gingiva, clusters of vesicles on anterior oral mucosa and lips
Contraindication to rotavirus vaccination
History of intussusception (risk of virus-induced intestinal inflammation)
Sign of asplenia on peripheral smear
Howell-Jolly bodies Nuclear remnants of RBCs typically removed by functional spleen Seen in sickle cell disease
Common infections and antimicrobial prophylaxis in chronic granulomatous disease
Infections: Catalase-positive organisms (Staph aureus, Pseudomonas, Burkholderia, Serratia, Nocardia, Aspergillus) Prophylaxis: Trimethoprim-sulfamethoxazole Itraconazole
Diagnosis of iron deficiency anemia vs. thalassemia minor
Iron deficiency anemia: Decreased MCV, increased RDW, decreased RBC count Reactive thrombocytosis Microcytosis, hypochromia on peripheral smear Thalassemia minor: Often asymptomatic Decreased MCV, normal RDW, normal RBC count, ± elevated retic count Target cells (increased surface area to volume) on peripheral smear Hb electropheresis normal in alpha-thal minor, increased HbA2 in beta-thal minor
Presentation of irritant contact diaper dermatitis vs. Candida diaper dermatitis
Irritant contact diaper dermatitis: Erythematous papules and plaques Spares skin folds Candida diaper dermatitis: Beefy red confluent plaques with satellite lesions Involves skin folds
Presentation, diagnosis, and treatment of intussusception
Most common cause of bowel obstruction at ages 6 months-36 months Cause: Often preceded by viral gastroenteritis, possibly provoked by inflamed Peyer's patches Most commonly involves ileocolic junction Presentation: Severe, periodic abdominal pain, associated with drawing legs up to abdomen Vomiting (initially nonbilious, may progress to bilious) Currant jelly stools Diagnosis: Target sign on abdominal ultrasound Treatment: Air or contrast enema (reduces telescoped bowel)
Cause, presentation, diagnosis, and treatment of minimal change disease
Most common cause of nephrotic syndrome in children Cause: Dysregulation of T cells -> cytokine-induced injury to glomerular podocytes -> increases glomerular permeability to albumin Presentation: Fatigue, periorbital, tibial, and scrotal edema, ± abdominal pain Diagnosis: Proteinuria, hypoalbuminemia, ± hyperlipidemia Effacement of podocyte foot processes Treatment: Corticosteroids
Presentation of congenital torticollis
Neck mass (contracted SCM muscle) with contralateral chin deviation, ipsilateral head tilt
Presentation of vitamin K deficiency bleeding
Neonates born at home Easy bruising or bleeding Intracranial hemorrhage -> obstructive hydrocephalus
Presentation of perianal streptococcal dermatitis
Occurs in infants through school-aged children Bright red, sharply demarcated rash around anus Associated pruritus and pain
Presentation of slipped capital femoral epiphysis
Occurs in obese adolescents Chronic, dull hip or knee pain, often bilateral Waddling gait Limited internal rotation of hip
Presentation of sickle cell trait
Often asymptomatic Painless hematuria (most common) Splenic infarct at high altitudes (uncommon) No other complications of sickle cell disease
Presentation and treatment of physiologic vs. pathologic GERD in infants
Physiologic GERD: Normal weight gain Manage with upright positioning, burping, and small-volume feeds Pathologic GERD: Poor weight gain Manage with thickened feeds or switch to hydrolyzed formula
Presentation of retropharyngeal abscess
Preceded by viral URI (or direct spread of pharyngitis or tonsillitis) Fever, sore throat, dysphagia, muffled voice, neck pain worse with extension ± Tonsillar enlargement with exudate Widened prevertebral space on lateral neck X-ray
Presentation of superficial infantile hemangioma
Presentation: Bright red plaque that appears days to weeks after birth, may grow in size until 6 months, becomes deep red and regresses in size after 6 months Treatment: Observation for most lesions Beta blockers for complicated (facial, periorbital, subglottic, or hepatic) lesions
Presentation and diagnosis of Ewing sarcoma
Presentation: Chronic localized pain and swelling Located in long bones or pelvis Diagnosis: Central lytic lesion, "onion-skinning" or "moth-eaten" appearance, periosteal elevation (Codman triangle) on X-ray
Presentation, diagnosis, and treatment of necrotizing enterocolitis
Presentation: Feeding intolerance, bilious emesis, abdominal distention and tenderness, hematemesis or hematochezia Diagnosis: Pneumatosis intestinalis (air in bowel wall) on abdominal X-ray Treatment: Bowel rest, IV fluids Blood cultures, empiric antibiotics Monitor with serial bloodwork, abdominal exams, and imaging Laparotomy for bowel perforation (pneumoperitoneum on imaging) or clinical deterioration
Presentation and diagnosis of craniopharyngioma
Presentation: Growth failure, pubertal delay (due to panhypopituitarism) Bitemporal hemianopsia Diagnosis: Suprasellar mass with calcifications on head CT
Presentation and treatment of hereditary spherocytosis
Presentation: Jaundice, splenomegaly (due to hemolysis following URI) Elevated retic count, increased mean corpuscular hemoglobin concentration Family history of splenectomy Treatment: Splenectomy for severe hemolysis
Presentation and diagnosis of neonatal HSV encephalitis
Presentation: Occurs at 2-3 weeks of life Seizures, fever, lethargy, full fontanelles due to increased ICP Diagnosis: Temporal lobe edema and hemorrhage on brain MRI Elevated WBC, normal protein, normal glucose in CSF HSV PCR in CSF or blood sample Treatment: Acyclovir
Presentation and treatment of IgA vasculitis
Presentation: Palpable petechiae or purpura without thrombocytopenia or coagulopathy Arthralgias, refusal to walk Abdominal pain, risk of intussusception Hematuria, proteinuria Treatment: Hydration, NSAIDs for most patients Steroids for severe symptoms
Presentation and treatment of labial adhesion
Presentation: Pre-pubertal girls at age 2-3 Vulvar pruritus Adhesive ridge fusing posterior labia minora Treatment: Estrogen cream
Presentation and diagnosis of phenylketonuria
Presentation: Seizures Musty odor to body or urine or musty urine Fair complexion Severe intellectual disability Diagnosis: Quantitative amino acid analysis
Presentation and treatment of migraine in children
Presentation: Unilateral or bifrontal pain, photophobia, phonophobia, nausea, and vomiting Visual aura (flashing lights) Treatment: NSAIDs, acetaminophen, triptans, ergots, anti-emetics
Presentation of hypoplastic left heart syndrome
Presents 1-3 days after birth when ductus arteriosus closes Cyanosis, single S2
Presentation of tetralogy of Fallot
Presents from birth to few years of life depending on degree of RV outflow obstruction Cyanotic spells Murmur of pulmonic stenosis, murmur of VSD Boot-shaped heart on CXR
Presentation of transposition of the great vessels
Presents in first 24 hours of life Cyanosis, single S2 ± PFO (no murmur), VSD, or PDA (dependent on mixing of oxygenated and deoxygenated blood) Narrow mediastinum ("egg on a string") on CXR
Treatment of neonatal clavicular fracture
Reassurance, gentle handling, Tylenol for analgesia Heals in 7-10 days
Treatment of drowning
Respiratory support to correct hypoxia Supplemental oxygen Noninvasive positive pressure ventilation (contraindicated in somnolent patients who cannot protect airway, due to risk of aspiration) For persistent hypoxia or airway protection, intubation with mechanical ventilation
Presentation of atraumatic splenic rupture
Risk factors: Infections: EBV, CMV, or malaria (rare but serious complication of infectious mononucleosis) Leukemia, lymphoma Splenic congestion: cirrhosis, pregnancy Presentation: Acute LUQ or diffuse abdominal pain, referred pain to shoulder Acute anemia Hemodynamic instability
Diagnosis and treatment of lead poisoning
Risk factors: Living in a home built before 1978 (renovation may release lead dust) Parents who work with batteries or pottery Diagnosis: Initial screening with capillary fingerstick sample may be falsely positive Confirmatory testing with venous sample Treatment: Removal of lead paint or piping Lead chelation therapy for lead levels > 45 or acute encephalopathy
Treatment of acute post-streptococcal glomerulonephritis
Self-limiting condition Loop diuretics for volume overload (hypertension, edema) Anti-hypertensives or dialysis for refractory hypertension
Cause, presentation, and diagnosis of closed spinal dysraphism
Spina bifida occulta Cause: Posterior spinal arches do not fuse during development, but overlying skin is intact Spinal cord attaches abnormally to surrounding tissues As child grows, spinal cord remains tethered and becomes stretched, rather than rising in spinal canal Presentation: May be asymptomatic for years with insidious onset of symptoms Bladder or bowel dysfunction: urinary incontinence, recurrent UTI, chronic constipation Lower motor neuron signs: weakness, hyporeflexia, sensory loss Lumbosacral dimple, hair tuft, hemangioma, or lipoma Diagnosis: Spinal MRI Treatment: Spinal detethering
Presentation of psychogenic pseudosynope
Subtype of conversion disorder Prolonged loss of consciousness (many minutes to hours) No pallor, sweating, or abnormal vital signs Patient recall of symptoms that occurred during the episode
Cause and presentation of Tay-Sachs vs. Niemann-Pick disease
Tay-Sachs disease: B-hexosaminidase A deficiency Loss of motor milestones, hypotonia, feeding difficulty, cherry-red macula Hyperreflexia Niemann-Pick disease: Sphingomyelinase deficiency Loss of motor milestones, hypotonia, feeding difficulty, cherry-red macula Hepatosplenomegaly, areflexia
Onset of puberty in girls
Thelarche (breast development) occurs at age 8-12 Pubarche (pubic hair development) typically follows thelarche Menarche occurs 2-2.5 years after initial breast bud development Growth spurt in 6 months preceding menses Lack of menses at age <15 is considered normal if breast and pubic hair development have been normal
Sail sign on infant chest X-ray
Thymus Present at age <3
Presentation of Edwards syndrome
Trisomy 18 Microcephaly, micrognathia (small jaw), rocker-bottom feet, clenched hands with overlapping fingers, absent palmar crease VSD (most common), ASD, or PDA
Presentation of intranasal foreign body
Unilateral purulent nasal drainage
Treatment of varicella exposure
Varicella vaccine for immunocompetent individuals (typically given at 1 and 4 years, contraindicated in neonates, immune compromise, and pregnancy) Varicella immunoglobulin for immunocompromised individuals
Presentation of VSD, ASD, or PDA
Ventricular septal defect: Holosystolic murmur at left lower sternal border Atrial septal defect: Fixed split S2 (due to increased flow to right heart, delayed closure of pulmonic valve) ± Systolic ejection murmur at left upper sternal border (due to increased flow across pulmonic valve) Patent ductus arteriosus: Continuous murmur in left subclavicular region
Presentation of acute viral vs. bacterial rhinosinusitis
Viral rhinosinusitis: Nasal congestion, purulent drainage, facial pain or pressure No fever or early resolution of fever Improvement in 5-10 days Bacterial rhinosinusitis: Most common risk factor is preceding viral URI or allergic rhinitis Nasal congestion, purulent drainage, facial pain or pressure Fever >3 days, new or recurrent fever after initial improvement Persistent symptoms for >10 days
Vitamin supplementation during breastfeeding
Vitamin D (cholecalciferol)
Presentation of WAGR syndrome
Wilms tumor (nephroblastoma) Aniridia (absent iris) Genitourinary anomalies R- intellectual disability