Rapid Review - Set 01 - Sheet1

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-Chiari syndrome (post-hepatic venous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 3

Adrenal hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friedrichsen syndrome (meningococcemia)

Question 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 4

Marfan’s syndrome (fibrillin defect)

Question 5

Athlete with polycythemia

Answer 5

Secondary to EPO injection

Question 6

Back pain, fever, night sweats, weight loss

Answer 6

Pott’s Disease (vertebral tuberculosis)

Question 7

Bilateral hilar adenopathy, uveitis

Answer 7

Sarcoidosis (Non-caseating granulomas)

Question 8

Blue sclera

Answer 8

Osteogenesis Imperfecta (type I collagen defect)

Question 9

Bluish line on gingiva

Answer 9

Burton’s line (lead poisoning)

Question 10

Bone pain, bone enlargement, arthritis

Answer 10

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

Question 11

Bounding pulses, diastolic heart murmur, head bobbing

Answer 11

Aortic regurgitation

Question 12

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

Answer 12

Systemic Lupus Erythematosus

Question 13

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

Answer 13

Neurofibromatosis Type I (+ 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 (most commonly Duchenne’s: X-linked recessive deletion of dystrophin gene

Question 16

“Cherry-red spot” on macula

Answer 16

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

Question 17

Chest pain on exertion

Answer 17

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

Question 18

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

Answer 18

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

Question 19

Child uses arms to stand up from squat

Answer 19

Gower’s 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 disease: parvo b19)

Question 21

Chorea, dementia, caudate degeneration

Answer 21

Huntington’s disease (autosomal dominant CAG repeat expansion)

Question 22

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

Answer 22

McArdle’s 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 “machinery” heart murmur

Answer 25

Patent Ductus Arteriosus (close with Indomethacin; open or maintain with Misoprostol/PGE1)

Question 26

Cutaneous/dermal edema due to connective tissue deposition

Answer 26

Myxedema (caused by hypothyroidism, Graves’ disease [pretibilal])