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

dec. LDL receptor signaling

Question 3

Adrenal hemorrhage
Hypotension
DIC

Answer 3

Waterhouse-Friderichsen syndrome

meningococcemia

Question 4

Anterior “drawer sign” (+)

Answer 4

Anterior cruciate ligament

Question 5

Arachnodactyly
Lens dislocation
Aortic dissection Hyperflexible joints

Answer 5

Marfan syndrome

fibrillin defect

Question 6

Athlete with polycythemia

Answer 6

2º 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

inc. osteoblastic and osteoclastic activity

Question 12

Bounding pulses
Diastolic heart murmur
Head bobbing

Answer 12

Aortic regurgitation

Question 13

“Butterfly” facial rash

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 glioma

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

(MC: Duchenne): X-linked recessive deletion of dystrophin gene

Question 17

“Cherry red spots” on macula

Answer 17

Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingommyelin 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 ff. MI

Answer 19

Dressler syndrome

autoimmune 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

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
Myalgia
Fatigue
Painful cramps
Myoglobinuria

Answer 23

McArdle disease

muscular 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" murmur

Answer 26

Patent ductus arteriosus | 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]