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Peds Flashcards

1
Q

1) bilateral conjunctivitis, (2) truncal nonvesicular rash (3) cervical lymphadenopathy (4) edema or erythema hands and feet (5) mucous membrane changes

A

Kawasaki Dz 4/5 signs for 5+days

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2
Q

Recurrent lymphadenitis, osteomyelitis, cutaneous abscesses, hepatic abscesses, x-linked, abnormal NBT test nitroblue tetrazolium, Immunodef? Infections?

A

chronic granulomatous disease (CGD) NADPH oxidase (X-R) w/ catalase-positive (PLACESS): Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serratia.

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3
Q

telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs), GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia, aka Osler-Weber-Rendu syndrome. AD

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4
Q

cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency. Labs: increasedd AFP, decreased IgA, IgG, and IgE, Lymphopenia

A

Ataxia-telangiectasia; Defects in ATM, 􏰅DNA double strand breaks, cell cycle arrest.

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5
Q

Thrombocytopenic purpura, Eczema, Recurrent bacterial infections. Inceased IgE, IgA, low IgM. Fewer, smaller platelets. Risk of autoimmune dz, malignancy.

A

Wiskott-Aldrich (WATER); Mutation in WAS gene (X-R); T cells unable to reorganize actin cytoskeleton.

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6
Q

Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV. High IgM. Low IgG, IgA, IgE.

A

Hyper-IgM syndrome; Most commonly due to defective CD40L on Th cells = class switching defect; X-linked recessive.

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7
Q

Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, neuropathy, neutropenia, infiltrative lymphohistiocytosis.

A

Chédiak-Higashi (AR) phagosome-lysosome fusion defect (LYST); Giant granules/lysozymes in neutrophils, platelets. Pancytopenia. Mild coagulation defects.

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8
Q

Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days).

A

Leukocyte adhesion deficiency (T1, AR); LFA-1 integrin (CD18) impaired migration and chemotaxis

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9
Q

Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections, absence of thymic shadow (CXR)

A

Severe combined immunodeficiency (SCID); IL-2R gamma (most common, X-linked), adenosine deaminase deficiency (AR)

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10
Q

Recurrent bacterial and enteroviral infections after 6 months, Absent/scanty lymph nodes and tonsils.

A

X-linked (Bruton) agammaglobulinemia; Defect in BTK, B cell maturation (XR); rx IVIG

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11
Q

Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.

A

Selective IgA deficiency; IgA

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12
Q

Osteopenia, osteolytic lesions, pathologic fractures, Ashkenazi Jew, splenomegaly and growth delay; dx?

A

Type 1 Gaucher’s dz, genetic deficiency of glucocerebrosidase

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13
Q

FATED: coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema).

A

AD hyper-IgE syndrome (Job syndrome) w/ STAT3 mutation, impaired recruitment of neutrophils

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14
Q

Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (e.g., tetralogy of Fallot, truncus arteriosus)

A

Thymic aplasia (DiGeorge syndrome); 22q11 deletion; 3rd 4th pharyngeal pouches, absent thymus and parathyroids.

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15
Q

Recurrent sinopulminary infection with encapsulated H influ, Strep pneumo, GI infections with Giardia; dx?

A

Selective B-Cell deficiency; lack of IgA leads to giardia

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16
Q

Rocker-bottom feet, low-set ears, micrognathia, prominent occiput, clenched hands, congenital heart disease.

A

Trisomy 18, Edward’s syndrome; p/w low maternal serum α-fetoprotein, low estriol, low β-HCG, low or normal inhibin A

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17
Q

Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, congenital heart disease

A

Patau syndrome Trisomy 13; 1st trimester screen w/ low β-hCG, low PAPP-A, and nuchal translucency.

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18
Q

Flat facial profile, prominent epicanthal folds, upslanting palpebral fissures, clinodactyly, single palmar crease, and congenital heart disease.

A

Down syndrome (trisomy 21); 2nd trimester screen w/ low α-fetoprotein and estriol, high β-hCG and inhibin A

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19
Q

New born w/ light skin, phenyl ketones in urine and musty body odor.

A

PKU, rx decrease phenylalanine and increase tyrosine in diet.

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20
Q

port-wine stain of the face; ipsilateral leptomeningeal angioma; seizures/epilepsy; intellectual disability;early-onset glaucoma; dx?

A

STURGE-Weber: Sporadic, port-wine Stain; Tram track Ca2+ (opposing gyri); Unilateral; Retardation, Glaucoma, GNAQ gene; Epilepsy.

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21
Q

Cavernous hemangiomas in skin, mucosa, organs; b/l renal cell cx; hemangioblastoma (high vascularity, hyperchromatic nuclei ) in retina, brain stem, cerebellum; pheochromocytomas.

A

Von Hippel Lindau, VHL chr3

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22
Q

Pt p/w Hamartomas, Angifibroma, Ash-Leaf spots; dx? Other findings?

A

Tuberous Sclerosis; Hamartomas; Angiofibromas; Mitral regurgitation; Ash-leaf spots; Rhabdomyoma;TS; AD; MR; renal Angiomyolipoma; Seizures, Shagreen patches

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23
Q

VACTERL syndrome

A

Vertebral, Anorectal (anal atresia), Cardiovascular, Tracheal, Esophageal (TE-Fistula), Renal, and Limb abnormalities

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24
Q

Syndrome a/w Wilm’s tumor?

A

WAGR and Beckwith-Wiedemann syndrome

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25
Q

Beckwith-Wiedemann syndrome

A

exophthalmos, macroglossia, gigantism, hyperinsulinemia, and hypoglycemia, umbilical hernia, earlobe folds

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26
Q

WAGR syndrome

A

Wilms tumor, Aniridia, Genitourinary malformation, and mental Retardation (intellectual disability).

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27
Q

Perinatal growth acceleration, hemihypertrophy, macroglossia, linear ear creases, abd wall defects, exophthalmos, transient neonatal hypoglycemia.

A

Beckwith-Wiedemann syndrome, increased risk of developing Wilms’ tumor.

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28
Q

boy p/w mental retardation, macrocephaly, elongated face, prominent ears,, macro-orchidism; dx?

A

Fragile X syndrome (FMR-1); mitral valve prolapse

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29
Q

4yo p/w spasticity, hyperreflexia, slow effortful voluntary movements, impaired fine motor function, delayed developmental milestones, Babinski, contractures, walks on toes, scissor gait

A

Cerebral Palsy (Pyramidal is nonprogressive)

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30
Q

Infantile spasms, arrest of psychomotor development and a hypsarrhythmia pattern on electroencephalogram.

A

West’s syndrome

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31
Q

3 yoF p/w regression w/ loss of development, loss of verbal abilities, intellectual disability, ataxia, and stereotyped hand- wringing.

A

Rett’s syndrome is a genetic neurodegenerative disease in females

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32
Q

Tetany and seizure from hypocalcemia, cleft palate, square nose, harsh systolic ejection murmur dx?

A

DiGeorge (del 22q11) 3/4 pharyngeal pouches; mid-facial abn, cardiac defects (conotruncal anomalies), thymic aplasia, and parathyroid hypoplasia

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33
Q

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?

A

Absence of hexosaminidase A in WBCs is diagnostic for Tay-Sachs disease (AR ashkenazi jew). Seizures by 2, mortality at 4–5 years.

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34
Q

Café-au-lait spots, macrocephaly, feeding problems, learnin disabilities, cutaneous neurofibromas, pigmented hamartomas of the iris (Lisch nodules), optic gliomas, pheochromocytomas.

A

Neurofibromatosis 1 “von Recklinghausen” NF1 on Chr17 AD

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35
Q

Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas.

A

Neurofibromatosis type 2 NF2 on Chr22

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36
Q

Cyanotic baby w/ L axis deviation on ecg, decreased pulm vascular markings on cxr, holosystolic murmur at LL sternal border; dx?

A

Tricuspid atresia w/ L ventricular hypertrophy, hypoplastic R ventricle

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37
Q

Cyanotic hips/ lips improves with squatting, holosystolic murmur at L lower Sternal border

A

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.

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38
Q

Eisenmenger syndrome p/w late cyanosis, clubbing, and polycythemia. Pathophys?

A

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.

39
Q

Dyspnea w/ respiratory effort, harsh holosystolic murmur at L lower sternal border loud P2, increased vascular markings on cxr, dx?

A

VSD; may lead to LV overload/ CHF, Pulm HTN; medical rx diuretics, digoxin

40
Q

Fixed wide splitting S2, dx? Complications?

A

ASD; dysrhythmia and possible paradoxical emboli

41
Q

Machinery harsh murmur, wide pulse pressure, bouding pulses; dx? Rx?

A

Patent Ductus Arteriosis; Indomethacin to close PDA, Prostaglandins Pop open PDA

42
Q

Syncope, hearing loss, normal vitals exams, FH sudden cardiac death; dx?

A

Long QT syndrome

43
Q

LE cyanosis, CHF or respiratory distress, HTN in UE, weak pulses in LE, rib notching, 3 sign on cxr; dx? a/w?

A

Coarctation of the aorta; a/w bicuspid valve, turner sx, PDA (proximal infantile)

44
Q

Small palpebral fissure, thin upper lip, smooth philthrum, microencaphaly, intellectual disability; dx?

A

Fetal alcohol sx

45
Q

Fever, cervical lymphadenitis, conjunctival injection, changes in lips/oral mucosa (“strawberry tongue” D ), hand-foot erythema, desquamating rash.

A

Kawasaki dz, may develop coronary artery aneurysms or thrombosis w/ MI, rupture.; rx aspirin and IVIG

46
Q

Male child

A

Meckel’s diverticulum; Meckel scan (Techtenium99 pertechnetate scan) detects ectopic gastric tissue, the source of the bleed

47
Q

Fat kid with painful limp, externally rotated leg; dx/ rx?

A

Slipped capital femoral epiphysis SCFE; internal fixation w/ pinning

48
Q

6yo w/ painful limp, xray shows joint effusins and widening joint space; dx/rx?

A

Legg-Calve-Perthes (avascular necrosis of femoral head) in 2-8yo; Rest, NSAIDs, surgery on both hips

49
Q

13yo w/ pain over tibia at knee, tissue swelling, tibial tubercle irregularity or fracture (dissociation) from the shaft; dx?

A

Osgood-Schlatter traction apophysitis of the tibial tubercle

50
Q

Congenital heart block

A

Neonatal Lupus w/ +anti-Ro/SSA and/or anti-La/SSB antibodies

51
Q

Congenital cardiac defect consisting of malformation (downward displacement) of the tricuspid valve (causing regurge) and right ventricle?

A

Ebstein’s anomaly a/w Lithium; R atrial enlargement w/ tall peaked P waves and R axis deviation on ecg

52
Q

Neonate w/ Bilirubin >19.5mg/dL, direct bili>2mg/dL, persists > 2wks of life

A

Pathological jaundice of newborn; rx photo-therapy, if above 20-25mg/dL consider exchance transfusion

53
Q

Child w/ Mild jaundice. Elevated unconjugated bilirubin without overt hemolysis. Bilirubin elevation with fasting and stress; dx?

A

Gilbert syndrome; decreased UDP-glucuronosyltransferase conjugation and bilirubin uptake by hepatocytes.

54
Q

Child w/ conjugated hyperbilirubinemia (due to defective liver excretion) Grossly black liver; dx?

A

Dubin-Johnson syndrome; Rotor syndrome is similar but even milder and does not cause black liver.

55
Q

Baby w/ jaundice, kernicterus (bilirubin deposition in brain), elevated unconjugated bilirubin; dx?

A

Crigler-Najjar syndrome, (type I Absent UDP-glucuronosyltransferase)

56
Q

Icterus in newborn w/ normal conjugated bilirubin, total bilirubin

A

physiologic jaundice

57
Q

Neonate p/w lethargy, poor feeding, a high-pitched cry, hypertonicity, seizures, jaundice; dx?

A

Kernicterus, unconjugatecl hyperbilirubinemia w/ irreversible bilirubin deposition in the basal ganglia, pons, and cerebellum, Bili > 25-30, can be fatal

58
Q

15yo p/w progressive confusion, dehydration, metabolic acidosis, hyperkalemia, polyuria, abdominal pain, hx of recent fever and cough; dx?

A

DKA, hypoglycemia with decreased K stores despite hyperkalemia

59
Q

Adolescent p/w recurrent kidney stones, UA shows hexagonal crystals; dx, rx?

A

Cystinuria, dx- Urinary cyanide-nitroprusside test; Rx: U alkalinization (potassium citrate, acetazolamide), chelating agents, hydration.

60
Q

Small, firm testes, azoospermia, and gynecomastia, high LH, FSH, Estrogen, low Testosterone, dx? s/ cx?

A

Klinefelter’s 47,XXY a/w germ cell tumors in extragonadal sites

61
Q

Recent viral illness, child p/w fatty liver (microvesicular fatty change), hypoglycemia, vomiting, hepatomegaly, coma; dx?

A

Reye syndrome, often fatal hepatoencephalopathy; Mechanism: Aspirin metabolites decrease β-oxidation by reversible inhibition of mitochondrial enzyme.

62
Q

12yo boy p/w sudden onset difficulty breathing and laryngeal edema, non inflammatory edema of face/limbs/genitals, colicky abd pain; dx?

A

Hereditary angioedema, C1 inhibitor deficiency w/ increased bradykinin and C2

63
Q

Potter sequence

A

Pulmonary hypoplasia, Oligohydramnios (trigger), Twisted face, Twisted skin, Extremity defects, Renal failure (in utero)

64
Q

Baby boy p/w flat facies, abd distention, club feet, respiratory distress, bilateral hydronephrosis/hydroureters/bladder distention; dx/ etiology?

A

Posterior urethral valves > urinary obstruction > oligohydramnios > (Potter) lung hypoplasia; post void cystourethrogram, cystoscopy

65
Q

14yoM p/w epistaxis, localized nasal mass w/ bony erosion; dx?

A

Juvenile Angio-Fibroma

66
Q

4month old p/w macrocytic anemia, low reticulocytes, congenital defects (webbed neck, short stature, cleft palate, shielded chest); dx?

A

Diamond-Blackfan syndrome

67
Q

8yo p/w progressive pancytopenia and macrocytosis, absent thumbs, café-au-lait spots, microphthalmia, microcephaly, horseshoe kidney; dx?

A

Fanconi’s anemia (AR or X-linked DNA repair defect)

68
Q

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?

A

Homocysteinuria (AR) w/ thrombosis (stroke, MI), elevated homocysteine and methionine; rx antiplatelets/anticoagulate, supplement B6, folate, B12

69
Q

Conjuctivitis (infectious) with watery or mucupurulent discharge in newborn; dx/rx?

A

2-5 day old Gonorrhea (preventable w/ erythromycin drops) rx IV Ceftriaxone; 5-15 day old Chlamydia (maternal screening) rx ORAL Erythromycin

70
Q

Persistent enuresis despite behavioral management and enuresis alarm; rx?

A

Desmopressin (1st line), Amitriptyline (TCA’s are 2nd line)

71
Q

Baby p/w numerous umbilicated vesicles over area of atopic dermatitis; dx/rx?

A

Eczema herpeticum (herpes simplex infections); rx Acyclovir

72
Q

Central and peripheral demyelination with ataxia, dementia

A

Metachromatic leukodystrophy def in Arylsulfatase A

73
Q

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

A

Fabry’s dz X-linked recessive α-galactosidase A def

74
Q

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe’s dz AR def Galactocerebrosidase

75
Q

Progressive neurodegeneration, hepatosplenomegaly, “cherry-red” spot on macula, foam cells (lipidladen macrophages), failure to thrive

A

Niemann-Pick disease results from deficiency of sphingomyelinase, leading to buildup of sphingomyelin and cholesterol

76
Q

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

A

Hurler AR; Hunter’s is a milder XR form w/ aggressive behavior but w/o Corneal clouding

77
Q

HSM, pancytopenia, aseptic necrosis of femur, bone crises, lipid- laden macs resembling crumpled tissue paper; dx?

A

Gaucher AR Glucocerebrosidase (β-glucosidase) def; treatment is recombinant glucocerebrosidase.

78
Q

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick); dx?

A

Tay-sachs; Hexosaminidase A def

79
Q

2weekold p/w feeding difficulties, “floppy”, macroglossia, HF; dx?

A

Lysosomal α-1,4-glucosidase def (acid maltase/Pompe’s dz); Pompe trashes the Pump (heart, liver, and muscle).

80
Q

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?

A

Glucose-6-phosphatase deficiency (Von Gierke disease (type I glycogen storage dz); Rx frequent PO glucose/cornstarch; avoid fructose, galactose.

81
Q

3mO baby p/w hypoglycemia, HSM, elevated ALT/AST, hyperlipidemia, growth retardation, normal lactate and uric acid; dx?

A

Debranching enzyme (α-1,6-glucosidase) def. Cori disease (type III glycogen storage dz, AR)

82
Q

2yo p/w painful muscle cramps, myoglobinuria (red urine) w/ strenuous exercise, arrhythmia from electrolyte abnormalities, elevated glycogen in muscle; dx?

A

McArdle disease (type V - AR) def in skeletal muscle glycogen phosphorylase (myophosphorylase)

83
Q

Facial weakness, handgrip myotonia, testicular atrophy, baldness, cardiac conduction defect, foot drop, dysphagia; dx?

A

Myotonic muscular dystrophy (AD trinucleotide repeats)

84
Q

Hypotonia, short stature, cat like crie, microcephaly, epicanthal folds, high arched palate; dx?

A

Cri-du-chat 5p del

85
Q

Newborn p/w failure to thrive, jaundice, b/l cateracts, hypoglycemia, enlarged liver and spleen; dx?

A

Galactosemia via Galactose-1-phosphate uridyltransferase deficiency; rx eliminate galactose from diet

86
Q

Precocious puberty, Pigmentation (café au-lait), Polyostotic dystrophy (multiple bone defects); dx?

A

McCune-Albright (3p’s); endocrine hyperthyroidism, GH/Prolactin pituitary adenomas, adrenal hypercolestrolism

87
Q

Stridor that improves with neck extension, p/w dysphagia, weezing, hoarseness, feeding difficulties, doesn’t improve w/bronchodilators, a/w cardiac abnormalities; dx?

A

Vascular ring (aortic ring or sling), obstructing trachea and esophagus

88
Q

Baby (4-8months) p/w stridor that worsens in supine position, improves when prone or upright; dx?

A

Laryngomalacia, laxity of supraglottic structures that collapse w inspiration

89
Q

2yo p/w neck stiffness, fever, lethargy, petechial or purpuric truncal rash; dx?

A

Neisseria Meningitidis

90
Q

Baby w/ macrosomia, macroglossia, hemihypertrophy, umbelical hernia/omphalocele, hypoglycemia; dx?

A

Bekwith-Withman 11p15 imprinting disorder; a/w Wilm’s tumor, hepatoblastoma; f/u w/ US, sAFP

91
Q

4 week old boy p/w forceful emesis, dehydration, metabolic hypochloremic alkalosis; dx?

A

Pyloric stenonis (gastric outflow obstruction), olive shaped mass; rx IVF, pyloromyotomy

92
Q

Normal baby p/w early/mid-systolic ejection murmur I/II at LLSB that decreases w/ standing; dx?

A

Benign Still’s murmur, no f/u

93
Q

Kid w/ Lead capillary levels>5ug/dL; management/rx?

A

Check Venous Lead: moderate 45-69: Succimer (DMSA); severe > 70: EDTA and Dimercaprol; mild

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