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FA rapid review > classical presentations 1 > Flashcards

classical 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-r signaling

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3
Q

adrenal hemorrhage, hypotension, DIC

A

waterhouse-freiderichsen syndrome (meningococcemia)

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4
Q

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

athlete w/ polycythemia

A

2’ to erythropoietin injection

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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, uveitis

A

sarcoidosis (noncaseating 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 of bone

increase osteoblastic & osteoclastic 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 and Raynaud’s phenomenon in a young female

A

systemic lupus erythematosus

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13
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type I

+ pheochromocytoma, optic gliomas

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14
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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15
Q

Calf pseudohypertrophy

A 
muscular dystrophy (most commonly Duchenne's):
XLR deletion of dystrophin
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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, pericardial effusion/friction rub, persistent fever following MI

A

Dressler’s syndrome

AI-mediated post-MI fibrinous pericarditis, 1-12wks after acute episode

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19
Q

child uses arms to stand up from squat

A

Gower’s sign

Duchenne muscular dystrophy

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20
Q

Child w/ fever later develops red rash on face that spreads to body

A

“Slapped cheeks”

erythema infectiosum/5th disease: parvo B19

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21
Q

chorea, dementia, caudate degeneration

A

Huntington’s disease

autosomal-dominant CAG repeat expansion

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22
Q

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

A

McArdle’s disease

muscle glycogen phosphorylase deficiency

23
Q

Cold intolerance

A

Hypothyroidism

24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia

damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]

25
Q

continuous “machinery” heart murmur

A

PDA
close w/ indomethacin;
open or maintain w/ misoprostol

26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema
caused by hypothyroidism,
Graves’ disease=> pretibial myxedema

27
Q

dark purple skin/mouth nodules

A

Kaposi’s sarcoma

usually AIDS patients [MSM]: assoc w/ HHV-8

28
Q

Deep, labored breathing/hyperventilation

A 
Kussmaul breathing 
(diabetic ketoacidosis)
29
Q

dermatitis, dementia, diarrhea

A

Pellagra

niacin [vit B3] deficiency

30
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A 
Wet beriberi
(thiamine [vit B1] deficiency)
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’s syndrome

AI destruction of exocrine glands

33
Q

dysphagia (esophageal webs), glossitis, iron deficiency, anemia

A

Plummer-Vinson syndrome

may progress to squamous cell CA

34
Q

Elastic skin, hypermobility 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 muscle spasm upon tapping

A

Chvostek’s sign

hypocalcemia

38
Q

fat, female, forty, fertile

A

cholelithiasis

gallstones

39
Q

fever, chills, headache, myalgia following antibiotic Tx for syphilis

A

Jarisch-Herxheimer rxn

rapid lysis of spirochetes results in toxin release

40
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

morbillivirus

41
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

42
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s disease

connective tissue disorder

43
Q

Gout, mental retardation, self mutilating behavior in a boy

A

Lesch-Nyhan syndrome

XLR: HGPRT deficiency

44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

copper accumulation from Wilson’s disease

45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

inherited, benign polyposis can cause bowel obstruction; increases cancer risk, mainly GI

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease

glucocerebrosidase deficiency

47
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport 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 present

A

UMN damage

50
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

hypoxemia, polycythemia, hypercapnia

A

“Blue bloater”

chronic bronchitis: hyperplasia of mucous cells

52
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (1’ syphilis, Treponema pallidum)

painful, w/ exudate: chancroid (Haemophilus decreyi)

53
Q

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

A

Patau’s syndrome

trisomy 13

FA rapid review (9 decks)

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