Step 1

Question 1

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Answer 1

C. Diff infection

Question 2

Achilles’ tendon xanthomas

Answer 2

Familial hypercholesterolemia (dec LDL receptor signaling)

Question 3

Adrenal hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friderchsen syndrome (meningococcemia)

Question 4

Anaphylaxis following blood transfusion

Answer 4

IgA deficiency

Question 5

Anterior drawer test +

Answer 5

ACL

Question 6

Arachnodactyly, lens dislocation, aortic dissection, hyper flexible joints

Answer 6

Marfans syndrome ( fibrillin defect)

Question 7

Athlete with polycythemia

Answer 7

Secondary to EPO injection

Question 8

Back pain, fever, night sweats

Answer 8

Pott disease (vertebral TB)

Question 9

Bilateral acoustic shwannomas

Answer 9

Neurofibromatosis 2 (chrom 22)

Question 10

Bilateral hilar adenopathy, uveitis

Answer 10

Sarcoidosis (noncaseating) restrictive long disease. Inc ACE and Calcium

Question 11

Black Eschar on face of patient with diabetic ketoacidosis

Facial pain, frontal lobe abscess

Answer 11

Mucor or Rhizopus fungal infection

Tx: surgical debridment, ampho B

Question 12

Blue sclera

Answer 12

Osteogenesis perfecta
(Type I collagen defect)

Question 13

Bluish line on gingiva

Answer 13

Burton line (lead poisoning)

Question 14

Bone pain, bone enlargement, arthritis

Answer 14

Paget disease of bone (inc. osteoblastic and osteoclastic activity)

Question 15

Bounding pulses, diastolic heart murmur, head bobbing

Answer 15

Aortic regurgitation
(High pitched blowing early diastolic decrescendo)
Due to: aortic root dilatation, bicuspid aortic valve, endocarditis, rheumatic fever. Progress to left heart failure.
Heard best when leaning forward

Question 16

Butterfly rash, Raynaud phenom in young female

Cytopenia

Answer 16

SLE

Question 17

Cafe au lait spots, lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic glioma

Answer 17

Neurofibromatosis type I (chrom 17), pheochromocytomas, optic glioma

Question 18

Cafe au lait spots (unilateral), polyostotic fibrous dyspasia, precocious puberty, multiple endocrine abnormalities

Answer 18

McCune-Albright syndrome (mosaic G protein signaling mutation)

Question 19

Calf pseudohypertrophy

Answer 19

Muscular dystrophy- Duchenne, due to x-linked recessive frameshift mutation of dystrophin gene

Question 20

Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctiva and tongue

Answer 20

Kawasaki disease (treat with IVIG and aspirin)

Question 21

Cherry red spots on macula

Answer 21

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

Question 22

Chest pain on exertion

Answer 22

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

Question 23

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

Answer 23

Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis, 2-12 weeks after acute episode )

Question 24

Chest pain with ST depressions on EKG

Answer 24

Unstable angina (troponin -) or NSTEMI (troponin +)

Question 25

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

Answer 25

Slapped cheek- erythema infectiosum/fifth disease parvovirus B19

Question 26

Chorea, dementia, caudate degeneration

Answer 26

Huntington dz - autosomal dominant (CAG) repeat expansion

Question 27

Chorioretinitis, hydrocephalus, intracranial calcification

Answer 27

Congenital toxoplasmosis

Question 28

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

Answer 28

McArdles dz- skeletal muscle glycogen phosphorylase deficiency

Question 29

Cold intolerance

Answer 29

Hypothyroidism

Question 30

Conjugate horizontal gaze palsy, horizontal diplopia

Answer 30

Internuclear ophthalmoplegia (damage to MLF; unilateral or bilateral)

Question 31

Continuous machine like murmur

Answer 31

PDA- close with idomethacin; open or maintain with PGE analog

Question 32

Abdominal pain, acites, hepatoslepnomegaly

Answer 32

Budd-chiari Syndrome (post hepatic venous thrombosis)