Classic Presentations

Question 0

Achilles’ tendon xanthoma

Answer 0

Familial Hypercholesterolemia (deficient LDL Receptor signaling)

Question 1

Abdominal pain, Ascites, Hepatomegaly

Answer 1

Budd-Chiari syndrome (post-hepatic venous thrombosis)

Question 2

Adrenal hemorrhage, hypotension and DIC

Answer 2

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 3

Anterior “drawer sign” (+)

Answer 3

Anterior cruciate ligament injury

Question 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 4

Marfan syndrome (fibrillin defect)

Question 5

Athlete with polycythemia

Answer 5

Secondary to erythropoietin injection

Question 6

Back pain, fever, night sweats, weight loss

Answer 6

Paget disease (vertebral TB)

Question 7

Bilateral hilar adenopathy, and, Uveitis

Answer 7

Sarcoidosis (noncaseating granulomas)

Question 8

Blue sclera

Answer 8

Osteogenesis Imperfecta (type 1 collage defect)

Question 9

Bluish line on gingiva

Answer 9

Burton line (lead poisoning)

Question 10

Bone pain, bone enlargement, and arthritis

Answer 10

Paget disease of bone (increased osteoblast & osteoclast activity)

Question 11

Bounding pulses, diastolic heart murmur, head bobbing

Answer 11

Aortic regurgitation

Question 12

Malar (“butterfly”) facial rash and Raynaud phenomenon in a young female

Answer 12

Systemic lupus erythematosus

Question 13

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

Answer 13

Neurofibromatosis type 1 (+ pheochromocytoma, optic gliomas)

Question 14

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

Answer 14

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Question 15

Calf pseudohypertrophy

Answer 15

Muscular dystrophy (m/c = Duchenne): XLR deletion of dystrophin gene)

Question 16

“Cherry-red spots” on macula

Answer 16

Tay-Sachs (ganglioside accumulation),
Niemann-Pick (sphingomyelin accumulation),
Central retinal artery occlusion

Question 17

Chest pain on exertion

Answer 17

Angina-

Stable angina = chest pain w. Moderate exertion.

Unstable angina = chest pain w. minimal exertion

Question 18

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

Answer 18

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)

Question 19

Child uses arms to stand up from squat

Answer 19

Gowers sign (Duchenne muscular dystrophy)

Question 20

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

Answer 20

“Slapped cheeks” (erythema infectiosum/fifth dis: pavovirus B19)

Question 21

Chorea, dementia, and caudate degeneration

Answer 21

Huntington disease (autosomal dominant CAG repeat expansion)

Question 22

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

Answer 22

McArdle disease (muscle glycogen phosphorylase deficiency)

Question 23

Cold intolerance

Answer 23

Hypothyroidism

Question 24

Conjugate lateral gaze palsy, horizontal diplopia

Answer 24

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

Question 25

Continuous “machine-like” heart murmur

Answer 25

PDA (close with Indomethacin; open with Misoprostol)

Question 26

Cutaneous/dermal edema due to CT deposition

Answer 26

Myxedema (caused by hypothyroidism, Gravis disease [pretibial])