Peds Flashcards
1) bilateral conjunctivitis, (2) truncal nonvesicular rash (3) cervical lymphadenopathy (4) edema or erythema hands and feet (5) mucous membrane changes
Kawasaki Dz 4/5 signs for 5+days
Recurrent lymphadenitis, osteomyelitis, cutaneous abscesses, hepatic abscesses, x-linked, abnormal NBT test nitroblue tetrazolium, Immunodef? Infections?
chronic granulomatous disease (CGD) NADPH oxidase (X-R) w/ catalase-positive (PLACESS): Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serratia.
telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs), GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia, aka Osler-Weber-Rendu syndrome. AD
cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency. Labs: increasedd AFP, decreased IgA, IgG, and IgE, Lymphopenia
Ataxia-telangiectasia; Defects in ATM, DNA double strand breaks, cell cycle arrest.
Thrombocytopenic purpura, Eczema, Recurrent bacterial infections. Inceased IgE, IgA, low IgM. Fewer, smaller platelets. Risk of autoimmune dz, malignancy.
Wiskott-Aldrich (WATER); Mutation in WAS gene (X-R); T cells unable to reorganize actin cytoskeleton.
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV. High IgM. Low IgG, IgA, IgE.
Hyper-IgM syndrome; Most commonly due to defective CD40L on Th cells = class switching defect; X-linked recessive.
Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, neuropathy, neutropenia, infiltrative lymphohistiocytosis.
Chédiak-Higashi (AR) phagosome-lysosome fusion defect (LYST); Giant granules/lysozymes in neutrophils, platelets. Pancytopenia. Mild coagulation defects.
Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days).
Leukocyte adhesion deficiency (T1, AR); LFA-1 integrin (CD18) impaired migration and chemotaxis
Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections, absence of thymic shadow (CXR)
Severe combined immunodeficiency (SCID); IL-2R gamma (most common, X-linked), adenosine deaminase deficiency (AR)
Recurrent bacterial and enteroviral infections after 6 months, Absent/scanty lymph nodes and tonsils.
X-linked (Bruton) agammaglobulinemia; Defect in BTK, B cell maturation (XR); rx IVIG
Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.
Selective IgA deficiency; IgA
Osteopenia, osteolytic lesions, pathologic fractures, Ashkenazi Jew, splenomegaly and growth delay; dx?
Type 1 Gaucher’s dz, genetic deficiency of glucocerebrosidase
FATED: coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema).
AD hyper-IgE syndrome (Job syndrome) w/ STAT3 mutation, impaired recruitment of neutrophils
Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (e.g., tetralogy of Fallot, truncus arteriosus)
Thymic aplasia (DiGeorge syndrome); 22q11 deletion; 3rd 4th pharyngeal pouches, absent thymus and parathyroids.
Recurrent sinopulminary infection with encapsulated H influ, Strep pneumo, GI infections with Giardia; dx?
Selective B-Cell deficiency; lack of IgA leads to giardia
Rocker-bottom feet, low-set ears, micrognathia, prominent occiput, clenched hands, congenital heart disease.
Trisomy 18, Edward’s syndrome; p/w low maternal serum α-fetoprotein, low estriol, low β-HCG, low or normal inhibin A
Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, congenital heart disease
Patau syndrome Trisomy 13; 1st trimester screen w/ low β-hCG, low PAPP-A, and nuchal translucency.
Flat facial profile, prominent epicanthal folds, upslanting palpebral fissures, clinodactyly, single palmar crease, and congenital heart disease.
Down syndrome (trisomy 21); 2nd trimester screen w/ low α-fetoprotein and estriol, high β-hCG and inhibin A
New born w/ light skin, phenyl ketones in urine and musty body odor.
PKU, rx decrease phenylalanine and increase tyrosine in diet.
port-wine stain of the face; ipsilateral leptomeningeal angioma; seizures/epilepsy; intellectual disability;early-onset glaucoma; dx?
STURGE-Weber: Sporadic, port-wine Stain; Tram track Ca2+ (opposing gyri); Unilateral; Retardation, Glaucoma, GNAQ gene; Epilepsy.
Cavernous hemangiomas in skin, mucosa, organs; b/l renal cell cx; hemangioblastoma (high vascularity, hyperchromatic nuclei ) in retina, brain stem, cerebellum; pheochromocytomas.
Von Hippel Lindau, VHL chr3
Pt p/w Hamartomas, Angifibroma, Ash-Leaf spots; dx? Other findings?
Tuberous Sclerosis; Hamartomas; Angiofibromas; Mitral regurgitation; Ash-leaf spots; Rhabdomyoma;TS; AD; MR; renal Angiomyolipoma; Seizures, Shagreen patches
VACTERL syndrome
Vertebral, Anorectal (anal atresia), Cardiovascular, Tracheal, Esophageal (TE-Fistula), Renal, and Limb abnormalities
Syndrome a/w Wilm’s tumor?
WAGR and Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
exophthalmos, macroglossia, gigantism, hyperinsulinemia, and hypoglycemia, umbilical hernia, earlobe folds
WAGR syndrome
Wilms tumor, Aniridia, Genitourinary malformation, and mental Retardation (intellectual disability).
Perinatal growth acceleration, hemihypertrophy, macroglossia, linear ear creases, abd wall defects, exophthalmos, transient neonatal hypoglycemia.
Beckwith-Wiedemann syndrome, increased risk of developing Wilms’ tumor.
boy p/w mental retardation, macrocephaly, elongated face, prominent ears,, macro-orchidism; dx?
Fragile X syndrome (FMR-1); mitral valve prolapse
4yo p/w spasticity, hyperreflexia, slow effortful voluntary movements, impaired fine motor function, delayed developmental milestones, Babinski, contractures, walks on toes, scissor gait
Cerebral Palsy (Pyramidal is nonprogressive)
Infantile spasms, arrest of psychomotor development and a hypsarrhythmia pattern on electroencephalogram.
West’s syndrome
3 yoF p/w regression w/ loss of development, loss of verbal abilities, intellectual disability, ataxia, and stereotyped hand- wringing.
Rett’s syndrome is a genetic neurodegenerative disease in females
Tetany and seizure from hypocalcemia, cleft palate, square nose, harsh systolic ejection murmur dx?
DiGeorge (del 22q11) 3/4 pharyngeal pouches; mid-facial abn, cardiac defects (conotruncal anomalies), thymic aplasia, and parathyroid hypoplasia
5 month old boy p/w loss of motor skills, increased startle reaction to noise, retinal cherry-red spot, lysosomes with onion skin, no HSM Dx? Prognosis?
Absence of hexosaminidase A in WBCs is diagnostic for Tay-Sachs disease (AR ashkenazi jew). Seizures by 2, mortality at 4–5 years.
Café-au-lait spots, macrocephaly, feeding problems, learnin disabilities, cutaneous neurofibromas, pigmented hamartomas of the iris (Lisch nodules), optic gliomas, pheochromocytomas.
Neurofibromatosis 1 “von Recklinghausen” NF1 on Chr17 AD
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas.
Neurofibromatosis type 2 NF2 on Chr22
Cyanotic baby w/ L axis deviation on ecg, decreased pulm vascular markings on cxr, holosystolic murmur at LL sternal border; dx?
Tricuspid atresia w/ L ventricular hypertrophy, hypoplastic R ventricle
Cyanotic hips/ lips improves with squatting, holosystolic murmur at L lower Sternal border
Tetralogy of Fallot; Pulmonary infundibular stenosis, RVH—boot-shaped heart on CXR, Overriding aorta, VSD Pulmonary stenosis forces R to L flow across VSD -> early cyanotic “tet spells,” RVH.
Eisenmenger syndrome p/w late cyanosis, clubbing, and polycythemia. Pathophys?
Uncorrected left-to-right shunt (VSD, ASD, PDA)->pulmonary blood flow, pathologic remodeling of vasculature, pulmonary arteriolar HTN, RVH occurs to compensate, shunt becomes R to L.
Dyspnea w/ respiratory effort, harsh holosystolic murmur at L lower sternal border loud P2, increased vascular markings on cxr, dx?
VSD; may lead to LV overload/ CHF, Pulm HTN; medical rx diuretics, digoxin
Fixed wide splitting S2, dx? Complications?
ASD; dysrhythmia and possible paradoxical emboli
Machinery harsh murmur, wide pulse pressure, bouding pulses; dx? Rx?
Patent Ductus Arteriosis; Indomethacin to close PDA, Prostaglandins Pop open PDA
Syncope, hearing loss, normal vitals exams, FH sudden cardiac death; dx?
Long QT syndrome
LE cyanosis, CHF or respiratory distress, HTN in UE, weak pulses in LE, rib notching, 3 sign on cxr; dx? a/w?
Coarctation of the aorta; a/w bicuspid valve, turner sx, PDA (proximal infantile)
Small palpebral fissure, thin upper lip, smooth philthrum, microencaphaly, intellectual disability; dx?
Fetal alcohol sx
Fever, cervical lymphadenitis, conjunctival injection, changes in lips/oral mucosa (“strawberry tongue” D ), hand-foot erythema, desquamating rash.
Kawasaki dz, may develop coronary artery aneurysms or thrombosis w/ MI, rupture.; rx aspirin and IVIG
Male child
Meckel’s diverticulum; Meckel scan (Techtenium99 pertechnetate scan) detects ectopic gastric tissue, the source of the bleed
Fat kid with painful limp, externally rotated leg; dx/ rx?
Slipped capital femoral epiphysis SCFE; internal fixation w/ pinning
6yo w/ painful limp, xray shows joint effusins and widening joint space; dx/rx?
Legg-Calve-Perthes (avascular necrosis of femoral head) in 2-8yo; Rest, NSAIDs, surgery on both hips
13yo w/ pain over tibia at knee, tissue swelling, tibial tubercle irregularity or fracture (dissociation) from the shaft; dx?
Osgood-Schlatter traction apophysitis of the tibial tubercle
Congenital heart block
Neonatal Lupus w/ +anti-Ro/SSA and/or anti-La/SSB antibodies
Congenital cardiac defect consisting of malformation (downward displacement) of the tricuspid valve (causing regurge) and right ventricle?
Ebstein’s anomaly a/w Lithium; R atrial enlargement w/ tall peaked P waves and R axis deviation on ecg
Neonate w/ Bilirubin >19.5mg/dL, direct bili>2mg/dL, persists > 2wks of life
Pathological jaundice of newborn; rx photo-therapy, if above 20-25mg/dL consider exchance transfusion
Child w/ Mild jaundice. Elevated unconjugated bilirubin without overt hemolysis. Bilirubin elevation with fasting and stress; dx?
Gilbert syndrome; decreased UDP-glucuronosyltransferase conjugation and bilirubin uptake by hepatocytes.
Child w/ conjugated hyperbilirubinemia (due to defective liver excretion) Grossly black liver; dx?
Dubin-Johnson syndrome; Rotor syndrome is similar but even milder and does not cause black liver.
Baby w/ jaundice, kernicterus (bilirubin deposition in brain), elevated unconjugated bilirubin; dx?
Crigler-Najjar syndrome, (type I Absent UDP-glucuronosyltransferase)
Icterus in newborn w/ normal conjugated bilirubin, total bilirubin
physiologic jaundice
Neonate p/w lethargy, poor feeding, a high-pitched cry, hypertonicity, seizures, jaundice; dx?
Kernicterus, unconjugatecl hyperbilirubinemia w/ irreversible bilirubin deposition in the basal ganglia, pons, and cerebellum, Bili > 25-30, can be fatal
15yo p/w progressive confusion, dehydration, metabolic acidosis, hyperkalemia, polyuria, abdominal pain, hx of recent fever and cough; dx?
DKA, hypoglycemia with decreased K stores despite hyperkalemia
Adolescent p/w recurrent kidney stones, UA shows hexagonal crystals; dx, rx?
Cystinuria, dx- Urinary cyanide-nitroprusside test; Rx: U alkalinization (potassium citrate, acetazolamide), chelating agents, hydration.
Small, firm testes, azoospermia, and gynecomastia, high LH, FSH, Estrogen, low Testosterone, dx? s/ cx?
Klinefelter’s 47,XXY a/w germ cell tumors in extragonadal sites
Recent viral illness, child p/w fatty liver (microvesicular fatty change), hypoglycemia, vomiting, hepatomegaly, coma; dx?
Reye syndrome, often fatal hepatoencephalopathy; Mechanism: Aspirin metabolites decrease β-oxidation by reversible inhibition of mitochondrial enzyme.
12yo boy p/w sudden onset difficulty breathing and laryngeal edema, non inflammatory edema of face/limbs/genitals, colicky abd pain; dx?
Hereditary angioedema, C1 inhibitor deficiency w/ increased bradykinin and C2
Potter sequence
Pulmonary hypoplasia, Oligohydramnios (trigger), Twisted face, Twisted skin, Extremity defects, Renal failure (in utero)
Baby boy p/w flat facies, abd distention, club feet, respiratory distress, bilateral hydronephrosis/hydroureters/bladder distention; dx/ etiology?
Posterior urethral valves > urinary obstruction > oligohydramnios > (Potter) lung hypoplasia; post void cystourethrogram, cystoscopy
14yoM p/w epistaxis, localized nasal mass w/ bony erosion; dx?
Juvenile Angio-Fibroma
4month old p/w macrocytic anemia, low reticulocytes, congenital defects (webbed neck, short stature, cleft palate, shielded chest); dx?
Diamond-Blackfan syndrome
8yo p/w progressive pancytopenia and macrocytosis, absent thumbs, café-au-lait spots, microphthalmia, microcephaly, horseshoe kidney; dx?
Fanconi’s anemia (AR or X-linked DNA repair defect)
Child p/w sudden L sided weakness, on PE tall thin stature, joint laxity, fair hair and eyes w/ downward lense displacement, developmental delay, megaloblastic anemia; dx/rx?
Homocysteinuria (AR) w/ thrombosis (stroke, MI), elevated homocysteine and methionine; rx antiplatelets/anticoagulate, supplement B6, folate, B12
Conjuctivitis (infectious) with watery or mucupurulent discharge in newborn; dx/rx?
2-5 day old Gonorrhea (preventable w/ erythromycin drops) rx IV Ceftriaxone; 5-15 day old Chlamydia (maternal screening) rx ORAL Erythromycin
Persistent enuresis despite behavioral management and enuresis alarm; rx?
Desmopressin (1st line), Amitriptyline (TCA’s are 2nd line)
Baby p/w numerous umbilicated vesicles over area of atopic dermatitis; dx/rx?
Eczema herpeticum (herpes simplex infections); rx Acyclovir
Central and peripheral demyelination with ataxia, dementia
Metachromatic leukodystrophy def in Arylsulfatase A
Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
Fabry’s dz X-linked recessive α-galactosidase A def
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe’s dz AR def Galactocerebrosidase
Progressive neurodegeneration, hepatosplenomegaly, “cherry-red” spot on macula, foam cells (lipidladen macrophages), failure to thrive
Niemann-Pick disease results from deficiency of sphingomyelinase, leading to buildup of sphingomyelin and cholesterol
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler AR; Hunter’s is a milder XR form w/ aggressive behavior but w/o Corneal clouding
HSM, pancytopenia, aseptic necrosis of femur, bone crises, lipid- laden macs resembling crumpled tissue paper; dx?
Gaucher AR Glucocerebrosidase (β-glucosidase) def; treatment is recombinant glucocerebrosidase.
Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick); dx?
Tay-sachs; Hexosaminidase A def
2weekold p/w feeding difficulties, “floppy”, macroglossia, HF; dx?
Lysosomal α-1,4-glucosidase def (acid maltase/Pompe’s dz); Pompe trashes the Pump (heart, liver, and muscle).
3month old p/w severe fasting hypoglycemia, increased glycogen in liver, elevated lactate, hepatomegaly chubby face, thin extremities, short stature, enlarged liver and kidney; dx?
Glucose-6-phosphatase deficiency (Von Gierke disease (type I glycogen storage dz); Rx frequent PO glucose/cornstarch; avoid fructose, galactose.
3mO baby p/w hypoglycemia, HSM, elevated ALT/AST, hyperlipidemia, growth retardation, normal lactate and uric acid; dx?
Debranching enzyme (α-1,6-glucosidase) def. Cori disease (type III glycogen storage dz, AR)
2yo p/w painful muscle cramps, myoglobinuria (red urine) w/ strenuous exercise, arrhythmia from electrolyte abnormalities, elevated glycogen in muscle; dx?
McArdle disease (type V - AR) def in skeletal muscle glycogen phosphorylase (myophosphorylase)
Facial weakness, handgrip myotonia, testicular atrophy, baldness, cardiac conduction defect, foot drop, dysphagia; dx?
Myotonic muscular dystrophy (AD trinucleotide repeats)
Hypotonia, short stature, cat like crie, microcephaly, epicanthal folds, high arched palate; dx?
Cri-du-chat 5p del
Newborn p/w failure to thrive, jaundice, b/l cateracts, hypoglycemia, enlarged liver and spleen; dx?
Galactosemia via Galactose-1-phosphate uridyltransferase deficiency; rx eliminate galactose from diet
Precocious puberty, Pigmentation (café au-lait), Polyostotic dystrophy (multiple bone defects); dx?
McCune-Albright (3p’s); endocrine hyperthyroidism, GH/Prolactin pituitary adenomas, adrenal hypercolestrolism
Stridor that improves with neck extension, p/w dysphagia, weezing, hoarseness, feeding difficulties, doesn’t improve w/bronchodilators, a/w cardiac abnormalities; dx?
Vascular ring (aortic ring or sling), obstructing trachea and esophagus
Baby (4-8months) p/w stridor that worsens in supine position, improves when prone or upright; dx?
Laryngomalacia, laxity of supraglottic structures that collapse w inspiration
2yo p/w neck stiffness, fever, lethargy, petechial or purpuric truncal rash; dx?
Neisseria Meningitidis
Baby w/ macrosomia, macroglossia, hemihypertrophy, umbelical hernia/omphalocele, hypoglycemia; dx?
Bekwith-Withman 11p15 imprinting disorder; a/w Wilm’s tumor, hepatoblastoma; f/u w/ US, sAFP
4 week old boy p/w forceful emesis, dehydration, metabolic hypochloremic alkalosis; dx?
Pyloric stenonis (gastric outflow obstruction), olive shaped mass; rx IVF, pyloromyotomy
Normal baby p/w early/mid-systolic ejection murmur I/II at LLSB that decreases w/ standing; dx?
Benign Still’s murmur, no f/u
Kid w/ Lead capillary levels>5ug/dL; management/rx?
Check Venous Lead: moderate 45-69: Succimer (DMSA); severe > 70: EDTA and Dimercaprol; mild
