Classic Presentations 1

Question 1

Abdominal pain, ascites, hepatomegaly?

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

Achilles tendon xanthoma?

Answer 2

Familial hypercholesterolemia (low LDL receptor signaling)

Question 3

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints?

Answer 3

Marfan’s (fibrillin defect)

Question 4

Athlete with polycythemia?

Answer 4

Secondary to EPO injection

Question 5

Back pain, fever, night sweats, weight loss?

Answer 5

Pott’s dz (vertebral TB)

Question 6

Bilateral hilar adenopathy, uveitis?

Answer 6

Sarcoidosis (noncaseating granulomas)

Question 7

Blue sclera?

Answer 7

Osteogenesis imperfecta (type I collagen defect)

Question 8

Bluish line on gingiva?

Answer 8

Burton’s line (lead poisoning)

Question 9

Bone pain, bone enlargement, arthritis?

Answer 9

Paget’s (increase in osteblast and osteoclast activity)

Question 10

Bounding pulses, diastolic heart murmur, head bobbing?

Answer 10

Aortic regurg

Question 11

“Butterfly” facial rash and Raynaud’s in a young female?

Answer 11

SLE

Question 12

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

Answer 12

NF type I (+ pheochromocytoma, optic gliomas)

Question 13

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty; multiple endocrine abnormalities?

Answer 13

McCune Albright (mosaic G-protein signaling mutation)

Question 14

Calf pseudohypertrophy?

Answer 14

DMD (X-linked recessive deletion of dystrophin gene)

Question 15

Cherry red spot on macula?

Answer 15

Tay-Sachs (ganglioside accumulation) or Nieman Pick (sphingomyelin accumulation), central retinal artery occlusion

Question 16

Chest pain on exertion?

Answer 16

Angina (moderate: with moderate exertion; unstable: with minimal exertion)

Question 17

Chest pain, pericardial effusion/friction rub, persistent fever following MI?

Answer 17

Dressler’s (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Question 18

Child uses arms to stand up from squat?

Answer 18

Gower’s sign (DMD)

Question 19

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

Answer 19

“Slapped cheeks” (erythema infectiosum/fifth dz: parvovirus B19)

Question 20

Chorea, dementia, caudate degeneration?

Answer 20

Huntington’s (autosomal dominant CAG repeat expansion)