Classic Presentations

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd Chiari syndrome (posthepatic venous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 3

Adrenal Hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friedrechsen syndrome (meningococcemia)

Question 4

Anterior “drawer sign” +

Answer 4

ACL injury

Question 5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 5

Marfans (fibrillin defect)

Question 6

Athlete with polycythemia

Answer 6

2ndary to erythropoietin injection

Question 7

Back pain, fever, night sweats, weight loss

Answer 7

Pott Disease (vertebral TB)

Question 8

Bilateral hilar adenopathy, uveitis

Answer 8

Sarcoidosis (noncaseating granuloma)

Question 9

Blue sclera

Answer 9

OI (type I collagen defect)

Question 10

Bluish line on gingiva

Answer 10

Burton line (lead poisoning)

Question 11

Bone pain, bone enlargement, arthritis

Answer 11

Paget disease of bone (increase osteoblastic and osteoclastic activity)

Question 12

Bounding pulses, diastolic heart murmur, head bobbing

Answer 12

Aortic regurg

Question 13

“Butterfly” facial rash and Raynaud phenomenon in a young female

Answer 13

SLE

Question 14

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

Answer 14

Neurofibromatosis Type I (+pheocrhomocytome, optic gliomas)

Question 15

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

Answer 15

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

Question 16

Calf psuedoypertrophy

Answer 16

Muscular Dystrophy (Duchenne): XLR deletion of dystrophin gene

Question 17

“Cherry red spots” on macula

Answer 17

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

Question 18

Chest pain on exertion

Answer 18

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

Question 19

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

Answer 19

Dressler Syndrome (AI mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)

Question 20

Child uses arms to stand up from squat

Answer 20

Gowers sign (DMD)

Question 21

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

Answer 21

Slapped cheeks, roseola (erythema infectious/fifth disease: parvo B19)

Question 22

Chorea, dementia, caudate degeneration

Answer 22

Huntington Dz (AD CAG repeat expansion)

Question 23

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

Answer 23

McArdle dz (muscle glycogen phosphorylase deficiency)

Question 24

Cold intolerance

Answer 24

Hypothyroidism

Question 25

Conjugate lateral gaze palsy, horizontal diplopia

Answer 25

Internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])

Question 26

Continuous machine like murmur

Answer 26

PDA (close with indomethacin; open or maintain with misoprostol)

Question 27

Cuntaneous/dermal edema due to connective tissue deposition

Answer 27

Myxedema (caused by hypothyroidism, graves dz [pretibial])