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First Aid Rapid Review > Classic Presentations - 1 > Flashcards

Classic Presentations - 1 Flashcards

1
Q

gout, intellectual disability, self-mutilating behavior in a boy

A

Lesh-Nyhan (HGPRT def, X-linked recessive)

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2
Q

situs inversus, chronic sinusitis, bronchiestasis, infertility

A

kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

blue sclera

A

osteogenesis imperfecta (type I collagen defect)

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4
Q

elastic skin, hypermobility of joints, inc bleeding tendency

A

ehlers-danlos (type IV collagen defect)

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5
Q

arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

marfan syndrome

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6
Q

cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

mcCune-albright (mosaic G-protein signaling mut)

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7
Q

calf pseudohypertrophy

A

muscular dystrophy (duchenne - due to XLR frameshift mut of dystrophin gene)

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8
Q

child uses arms to stand up from squat

A

gowers sign - duchenne

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9
Q

slow progressive muscle weakness in boys

A

becker muscular dystrophy (X-linked missense mut in dystrophin)

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10
Q

infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

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11
Q

infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defect

A

edwards syndrome (trisomy 18)

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12
Q

single palmar crease

A

down syndrome

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13
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beri beri (thiamine (B1) def)

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14
Q

dermatitis, diarrhea, dementia

A

pellagra (niacin (B3) def)

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15
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy - vit C def - can’t hydroxylate proline/lysine for collagen synthesis

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16
Q

chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease - skeletal muscle glycogen phosphorylase def

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17
Q

infant w/ hypoglycemia, hepatomegaly

A

cori disease (debranching enzyme) or von gierke disease (G6P) - more severe

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18
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

pompe disease - lysosomal a-1,4-glucosidase def

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19
Q

cherry red spots on macular

A

Tay sachs (ganglioside accumulation) or niemann-pick (sphingomyelin occlusion), or central retinal artery occlusion

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20
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

gaucher disease (glucocerebrosidase def)

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21
Q

achilles tenon xanthoma

A

familial hypercholesterolemia (dec LDL receptor signaling)

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22
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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23
Q

male child, recurrent infections, no mature B cells

A

Bruton - X-linked agammaglobulinemia

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24
Q

recurrent non-inflammed abscesses, unusual eczema, high serum IgE

A

hyper IgE syndrome - PMN chemotaxis abnormality

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25
Q

strawberry tongue

A

scarlet fever or kawasaki dz

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26
Q

adrenal hemorrahge, hTN, DIC

A

waterhouse-friderichsen syndrome (meningococcemia)

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27
Q

red “currant jelly” sputum in alcoholic or diabetic pts

A

klebsiella pneumonia

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28
Q

large rash w/ bull’s eye appearance

A

lyme disease - erythema chronicum migrans

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29
Q

non painful, indurated, ulcerated genital lesion

A

primary syphilis (treponema pallidum)

30
Q

painful, indurated, ulcerated genital lesion

A

chancroid (H. ducreyi)

31
Q

pupil accommodates but doesn’t react

A

neurosyphilis

32
Q

smooth, moist, painless, wart-like white lesions on genitals

A

condyloma lata (secondary syphilis)

33
Q

fever, chills, headache, myalgia - following Abx treatment for syphilis

A

jarisch-herxheimer rxn (rapid lysis of spirochetes results in endotoxin-like release)

34
Q

dog or cat bite

A

pasteurella multocida (cellulitis at site of inoculation)

35
Q

rash on palms or soles

A

coxsackie A, secondary syphilis, RMSF

36
Q

black eschar on face of pt w/ DKA

A

mucor or rhizopus fungal infection

37
Q

chorioretinitis, hydrocephalus, intracranial calcifications in a newborn

A

congenital toxo

38
Q

fever, cough, conjunctivitis, coryza, diffuse rash

39
Q

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

A

koplik spots

40
Q

back pain, fever, night sweats - assoc w/ TB

A

Pott disease (vertebral TB)

41
Q

child w/ fever later develops red rash on cheeks that spreads to body

A

erythema infectiosum/fifth disease (parvovirus B19)

42
Q

abd pain, diarrhea, leukocytosis, recent Abx use

43
Q

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

aortic regurg

44
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

45
Q

continuous “machine-like” murmur

A

PDA - close w/ indomethacin, keep open w/ PGE analog

46
Q

chest pain, pericardial effusion/friction rub, persistent fever following MI

A

dressler syndrome - autoimmune post-MI fibrinous pericarditis, 2 wks to several months after acute episode

47
Q

painful, raised red lesions on pads of fingers/toes

A

osler nodes - immune complex deposition

48
Q

painless erythematous lesions on palms and soles

A

janeway lesions - septic emboli

49
Q

splinter hemorrhages, retinal hemorrhages w/ pale center

A

bacterial endocarditis

50
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae + tongue, hand-foot changes

A

kawasaki disease - treat w/ IVIG + aspirin

51
Q

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

A

Henoch-schonlein purpura (IgA vasculitis affecting skin + kidneys)

52
Q

telengiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

A

hereditary hemorrhagic telangiectasia

53
Q

skin hyperpigmentation, hTN, fatigue

A

addison disease (primary adrenocortical insufficienct) - inc ACTH and inc MSH production

54
Q

cold intolerance

A

hypothyroidism

55
Q

cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

myxedema (hypothyroid, graves)

56
Q

facial muscle spasm upon tapping

A

chvostek sign - hypocalcemia

57
Q

no lactation postpartum, absent menstruation, cold intolerance

A

sheehan syndrome - postpartum hemorrhage leading to pituitary infarction

58
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (R sided cardiac valve lesions, inc 5-HIAA)

59
Q

pancreatic, pituitary, parathyroid tumors

60
Q

medullary thyroid tumor, parathyroid, pheo

A

MEN2A (AD RET mut)

61
Q

medullary thyroid, marfanoid habitus, pheo

A

MEN2B (AD RET mut)

62
Q

vomiting blood following gastroesophageal tears

A

mallory-weiss syndrome (alcoholic + bulimic pts)

63
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

64
Q

enlarged, hard, L supraclavicular node

A

Virchow node (abdominal metastasis)

65
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple disease (tropheryma whipplei)

66
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

peutz-jeghers syndrome

67
Q

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

A

gardner syndrome - subtype of FAP

68
Q

severe jaundice in a neonate - congenital

A

crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)

69
Q

congestive liver disease, assoc w/ nutmeg liver, absence of JVD

A

budd-chiari syndrome - post hepatic venous thrombosis

70
Q

golden brown rings around peripheral cornea

A

wilson disease (due to copper accumulation)

First Aid Rapid Review (8 decks)

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