Classic Presentations 1 Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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3
Q

Adrenal Hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s Syndrom (fibrillin defect)

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5
Q

Athlete w/ polycythemia

A

Secondary to EPO injections

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral TB)

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7
Q

Bilateral hilar adenopathy, weight loss

A

Sarcoidosis (non caseating granulomas)

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8
Q

Blue sclera

A

Osteogenesis Imperfecta (type I collagen defect)

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9
Q

Bluish line on gingiva

A

Burton’s line, lead poisoning

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10
Q

bone pain, bone enlargement, arthritis

A

Paget’s Disease (Increase in OB and OC activity)

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11
Q

bounding pulses, diastolic heart murmur, head bobbing

A

Aortic Regurgitation

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12
Q

Butterfly facial rash, raynaud’s phenomenon, young female

A

SLE

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13
Q

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

A

McCune Albright syndrome (mosaic g-protein signaling mutation)

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14
Q

cafe au lait spots, lisch nodules (iris hamartoma)

A

NF-1 (+ pheochromocytoma + optic gliomas)

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15
Q

calf psudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s) X-Linked recessive deletion of dystrophin gene

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16
Q

Cherry red spot on macula

A

Tay Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation) central retinal artery occlusion

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17
Q

chest pain on exertion

A

Angina (stable w/ moderate exertion, unstable w/ minimal exertion)

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18
Q

chest pain, pericardia friction rub, pericardial effusion, persistent fever post MI

A

Dressler’s syndrome (auto-immune mediated post MI fibrinous pericarditis, 1-12 weeks after MI)

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19
Q

child sues arms to stand up from squat

A

Gower’s Sign (Duchenne muscular dystrophy)

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20
Q

child with fever later develop red raw on face that spreads to body “slapped cheek rash”

A

Parvovirus B19, erythema infectiosum/5th disease)

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21
Q

chorea, dementia, caudate degeneration

A

Huntington’s Disease (AD, CAG repeat)

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22
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle’s disease (mm glycogen phosphorylase deficiency)

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23
Q

Cold intolerance

A

hypothryroidism

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24
Q

conjugate lateral gaze palsy, horizontal diploplia

A

internuclear ophthalmoplegia (damage to MLF; bilateral MS or unilateral stroke)

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25
Q

continuous machine like murmur

A

PDA (close with indomethacin, open or maintain with misoprostol)

26
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (hypothyroidism or Grave’s Disease)

27
Q

dark purple skin/mouth nodules

A

kaposi sarcoma (HHV-8) usually AIDS patient

28
Q

deep labored breathing/hyperventiliation

A

Kussmaul breathing (DKA)

29
Q

dermatitis, dementia, diarrhea

A

Pellegra (niacin vit B3 deficiency)

30
Q

dilated cardiomyopathy, edema, alcoholism, malnutrition

A

Wet Beriberi (thiamine deficiency B1)

31
Q

dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

32
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

33
Q

dysphagia (esophageal webs) glossitis iron deficiency anemia

A

Plummer Vinson Syndrome

34
Q

Elastic skin and hyper mobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

35
Q

enlarged hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary Syndrome (cutaneous t cell lymphoma) or mycosis fungoides

37
Q

facial mm spasm upon tapping

A

Chvostek’s sign (hypcalcemia)

38
Q

fat, female, forty, and fertile

A

Cholelithiasis

39
Q

fever, chills, headache, myalgia, following Ab treatment for syphillis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

40
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

41
Q

fever, night sweats, weight loss

A

B symtoms–lymphoma

42
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s Disease (CT disorder, soft tissue tumors)

43
Q

gout, mental retardation, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

44
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s Disease)

45
Q

Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction, increase GI cancer risk)

46
Q

hepatosplenomagaly, osteoporosis, neurologic symptoms

A

Gaucher’s Disease (glucocerebrosidase deficiency)

47
Q

hereditary nephritis, sensorinueral hearing loss, cataracts

A

Alport’s Syndrome (mutation in alpha chain of collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

hyperreflexia, hypertonia, babinski sign

A

UMN damage

50
Q

hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

51
Q

hypoxemia, polycythemia, hypercapnia

A

Blue Bloater “chronic bronchitis, hyperplasia of mucus cells)

52
Q

indurated ulcerated genital lesion

A

non painful chancre (primary syphilius) painful with exudate (H. ducreyi)

53
Q

infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia

A

Patau’s syndrome (trisomy 13)

54
Q

toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

55
Q

unilateral facial dropping involving forehead

A

Facial nerve (LMN CN VII palsy)

56
Q

urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

57
Q

vascular birthmark (port-wine stain)

A

Hemangioma (benign but associated with Sturge Weber syndrome)

58
Q

vomitting blood following gastroesophageal lacerations

A

mallory-weiss syndrome (alcoholic and bulimic patients)

59
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s Disease (tropheryma whipplei)

60
Q

worse headache of my life

A

subarachnoid hemorrhage