Classic Presentations - 2 Flashcards

1
Q

fat, female, forty, fertile, familial

A

cholelithiasis

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2
Q

short stature, cafe-au-lait spots, thumb/radial defects, inc incidence of tumors/leukemia, aplastic anemia

A

fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

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3
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

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4
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin dz (autoimmune hemolytic anemia caused by M. pneumo, mono, CLL)

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5
Q

mucosal bleeding + prolonged bleeding time

A

glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

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6
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

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7
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells (look like brains)

A

mycosis fungoides (cutaneous T cell syndrome) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

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8
Q

WBCs that look “smudged”

A

CLL

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9
Q

athlete w/ polycythemia

A

EPO injections

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10
Q

neonate w/ arm paralysis following difficult birth, arm in “waiters tip” position

A

erb-duchenne palsy (superior trunk - C5-C6 - injury)

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11
Q

bone pain, bone enlargement, arthritis

A

paget disease of the bone (inc OB + OC activity)

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12
Q

swollen, hard, painful finger joints in an elderly individual, pain worse w/ activity

A

osteoarthritis (osteophytes on PIP = bouchard nodes, DIP = heberden nodes)

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13
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

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14
Q

dry eyes, dry mouth, arthritis

A

sjogren syndrome (autoimmune destruction of exocrine glands)

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15
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis assoc w/ HLA-B27

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16
Q

butterfly facial rash + raynauds in a young female

A

SLE

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17
Q

anticentromere Abs

A

scleroderma, CREST

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18
Q

dark purple skin/mouth nodule sin a pt w/ AIDS

A

kaposi sarcoma - HHV-8

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19
Q

anti-desmoglein (anti-desmosome) Abs

A

pemphigus vulgaris

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20
Q

pruritic, purple, polygonal planar papules + plaques

A

lichen planus

21
Q

inc AFP in amniotic fluid

A

dating error, anencephaly, NTDs

22
Q

toe extension/fanning upon plantar scrape

A

babinski sign (UMN lesion)

23
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

kluver-bucy syndrome (bilateral amygdala lesion)

24
Q

lucid interval after TBI

A

epidural hematoma (middle meningeal rupture)

25
Q

“worst headache of my life”

A

subarachnoid hemorrhage

26
Q

resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

parkinson dz (loss of dopaminergic neurons in substantia nigra pars compacta)

27
Q

chorea, dementia, caudate degerenation

A

huntington dz (AD CAG repeat expansion)

28
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

29
Q

rapidly progressive limb weakness that ascends following GI/URI

A

GBS

30
Q

cafe-au-lait spots, lisch nodules (iris hamartomas), cutaneous nodules, pheo, optic gliomas

A

NF-1

31
Q

vascular birthmark (port-wine stain) of the face

A

nevus flammeus (benign, assoc w/ Sturge-Weber)

32
Q

bilateral RCC, hemangioblastomas, angiomatosis, pheo

A

VHL (dominant tumor suppressor gene mutation)

33
Q

bilateral acoustic neuromas

A

NF-2

34
Q

hyperreflexia, hypertonia, babinski sign

A

UMN lesion

35
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN lesion

36
Q

unilateral facial drooping involving the forehead

A

LMN CN VII palsy (UMN lesion would spare the eyebrows)

37
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease

38
Q

ptosis, miosis, anhidrosis

A

horner syndrome (sympathetic chain lesion)

39
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

INO (damage to ipsilateral MLF)

40
Q

polyuria, RTA II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

fanconi syndrome (multiple combined dysfunction of the PCT)

41
Q

bluish line on gingiva

A

burton line = lead poisoning

42
Q

periorbital and/or peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

43
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

alport syndrome (type IV collagen mut)

44
Q

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

A

Turner syndrome

45
Q

red, itchy, swollen rash of nipple/areola

A

paget disease (assoc w/ underling DCIS)

46
Q

fibrous plaques in soft tissue of penis w/ abnormal curvature

A

peyronie dz (connective tissue disorder)

47
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis (hyperplasia of mucous glands)

48
Q

pink complexion, dyspnea, hyperventilation

A

emphysema (centriacinar = smoking, panacinar = a1-antitrypsin)

49
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (noncaseating granulomas)