1

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia ( dec LDL receptor signaling)

Question 3

Adrenal hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 4

Anterior drawer sign positive

Answer 4

Anterior cruciate ligament injury

Question 5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 5

Marfan syndrome (fibrillin defect)

Question 6

Athlete with polycythemia

Answer 6

secondary 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 granulomas)

Question 9

Blue sclera

Answer 9

Osteogenesis imperfecta (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 (increased osteoblastic and osteoclastic activity)

Question 12

Bounding pulses, diastolic heart murmur, head bobbing

Answer 12

Aortic regurgitation

Question 13

Butterfly facial rash and Raynaud phenomenon in a young female

Answer 13

Systemic lupus erythematosus

Question 14

Cafe_-au-lait spots, Lisch nodules (iris hamartoma)

Answer 14

Neurofibromatosis type I (+ pheochromocytoma, 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 pseudohypertrophy

Answer 16

Muscular dystrophy (most commonly Duchenne): X-linked recessive 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 (autoimmune-mediated post-MI fibrinous pericarditis, 1 to 2 weeks after acute episode)

Question 20

Child uses arms to stand up from squat

Answer 20

Gowers sign (Duchenne muscular dystrophy)

Question 21

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

Answer 21

Slapped cheeks (erythema infectiosum/fifth disease: Parvovirus B19

Question 22

Chorea, dementia, caudate degeneration

Answer 22

Huntington disease (autosomal dominant CAG repeat expansion)

Question 23

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

Answer 23

McArdle disease (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 [multiple sclerosis], unilateral [stroke])

Question 26

Continuous machine-like heart murmur

Answer 26

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

Question 27

Cutaneous/dermal edema due to connective tissue deposition

Answer 27

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