Classic Presentations Flashcards

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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

dec. LDL receptor signaling

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3
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen syndrome

meningococcemia

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4
Q

Anterior “drawer sign” (+)

A

Anterior cruciate ligament

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5
Q

Arachnodactyly
Lens dislocation
Aortic dissection Hyperflexible joints

A

Marfan syndrome

fibrillin defect

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6
Q

Athlete with polycythemia

A

2º to erythropoietin injection

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7
Q

Back pain
Fever
Night sweats
Weight loss

A

Pott disease

vertebral TB

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8
Q

Bilateral hilar adenopathy

Uveitis

A

Sarcoidosis

noncaseating granulomas

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9
Q

Blue sclera

A

Osteogenesis imperfecta

type I collagen defect

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10
Q

Bluish line on gingiva

A

Burton line

lead poisoning

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11
Q

Bone pain
Bone enlargement
Arthritis

A

Paget disease of bone

inc. osteoblastic and osteoclastic activity

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12
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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13
Q

“Butterfly” facial rash

Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

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14
Q
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
A

Neurofibromatosis type I

+ pheochromocytoma, optic glioma

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15
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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16
Q

Calf pseudohypertrophy

A

Muscular dystrophy

(MC: Duchenne): X-linked recessive deletion of dystrophin gene

17
Q

“Cherry red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingommyelin accumulation)
Central retinal artery occlusion

18
Q

Chest pain on exertion

A

Angina

stable: with moderate exertion; unstable: with minimal exertion

19
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever ff. MI

A

Dressler syndrome

autoimmune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode

20
Q

Child uses arms to stand up from squat

A

Gowers sign

Duchenne muscular dystrophy

21
Q

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

A

“Slapped cheeks”

erythema infectiosum/fifth disease: Parvovirus B19

22
Q

Chorea
Dementia
Caudate degeneration

A

Huntington disease

autosomal dominant CAG repeat expansion

23
Q
Chronic exercise intolerance
Myalgia
Fatigue
Painful cramps
Myoglobinuria
A

McArdle disease

muscular glycogen phosphorylase deficiency

24
Q

Cold intolerance

A

Hypothyroidism

25
Q

Conjugate lateral gaze palsy

Horizontal diplopia

A

Internuclear ophthalmoplegia

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

26
Q

Continuous “machine-like” murmur

A

Patent ductus arteriosus

close with indomethacin; open or maintain with misoprostol

27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema

caused by hypothyroidism, Graves disease [pretibial]