Rapid Review 2 Flashcards

1
Q

infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick Disease

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2
Q

infant with hypoglycemia, failure to thrive, hepatomegaly

A

Cori’s Disease

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3
Q

infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards’ Syndrome (trisomy 18)

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4
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s Sign (distal obstruction of biliary tree)

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5
Q

large rash with bull’s-eye appearance

A

erythema chronicum migrans (Lyme Disease)

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6
Q

lucid interval after traumatic brain injury

A

epidural hematoma

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7
Q

male child with recurrent infections and no mature B-cells

A

Bruton’s disease (X-linked agammaglobulinemia)

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8
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

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9
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

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10
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner’s Syndrome

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11
Q

myopathy/infantile hypertrophic cardiomyopathy, exercise intolerance

A

Pompe’s Disease

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12
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne Palsy (C5-C6, waiter’s tip)

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13
Q

no lacation postpartum, absent menstruation, cold intolerance

A

Sheehan’s Syndrome

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14
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

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15
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased ICP)

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16
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease due to mycoplasma

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17
Q

painful, pale, cold fingers/toes

A

Raynaud’s phenomenon

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18
Q

painful, raised red lesions on pad of fingers or toes

A

Osler’s Node

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19
Q

painless erythematous lesions on palms and soles

A

Janeway lesions

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20
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

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21
Q

palpable purpura on buttocks or legs, joint pain, abdominal pain, hematuria

A

Henoch-Schonlein Purpura

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22
Q

pancreatic, pituitary, and parathyroid tumors

A

MEN1 (AD)

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23
Q

periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

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24
Q

pink complexion, dyspnea, hyperventilation

A

pink puffer due to emphysema

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25
Q

polyuria, RTA Type II, growth failure, electrolyte imbalances, hypophophatemic rickets

A

Fanconi’s Syndrome

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26
Q

positive anterior drawer sign

A

ACL injury

27
Q

pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

28
Q

ptosis, miosis, anhidrosis

A

Horner’s Syndrome

29
Q

pupil accommodates but does not react

A

Argyll Robertson pupils

30
Q

rapidly progressive leg weakness that ascends following GI/upper respiratory infection

A

Guillain-Barre Syndrome

31
Q

rash on palms and soles

A

coxsackie A, secondary syphilis, RMSF

32
Q

recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE Syndrome/Job’s syndrome

33
Q

red currant jelly sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae

34
Q

red currant jelly stools

A

acute mesenteric ischemia or intussusception in infants

35
Q

red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (underlying cancer)

36
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

37
Q

bilateral RCC, hemangioblastomas, angiomatosis, pheo

A

VHL

38
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s Disease

39
Q

retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

40
Q

severe jaundice in neonate

A

Crigler-Najjar Syndrome

41
Q

severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

42
Q

severe RLQ pain with rebound tenderness

A

McBurney’s Sign (appendicitis)

43
Q

short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s Anemia

44
Q

single palmar crease

A

Simian crease (Down Syndrome)

45
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s Syndrome (dynein defect)

46
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s Disease

47
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy

48
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles/rubeola)

49
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata of secondary syphilis

50
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

51
Q

strawberry tongue

A

scarlet fever, Kawasaki disease, TSS

52
Q

streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner’s

53
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra

54
Q

swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

scurvy/vitamin C deficiency

55
Q

swollen, hard painful finger joints

A

OA (osteophytes on PIP = Bouchard’s nodes, osteophytes on DIP = Heberden’s nodes

56
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic valve stenosis

57
Q

thyroid tumors, parathyroid tumors, pheo

A

MEN2A

58
Q

thryoid tumors, pheo, mucosal neuromas

A

MEN2B

59
Q

unilateral facial drooping involving forehead

A

facial nerve palsy

60
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis (HLA-B27)

61
Q

vascular birthmark (port-wine stain)

A

hemangioma (Sturge-Weber Syndrome)

62
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholics and bulemics)

63
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s Disease

64
Q

worst headache of my life

A

subarachnoid hemorrhage