Classic Presentations 1

Question 1

Abdominal pain, ascites, hepatomegaly (Diagnosis/Disease)

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use (Diagnosis/Disease)

Answer 2

Clostridium difficile infection

Question 3

Achilles tendon xanthoma (Diagnosis/Disease)

Answer 3

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 4

Adrenal hemorrhage, hypotension, DIC (Diagnosis/Disease)

Answer 4

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 5

Anaphylaxis following blood transfusion (Diagnosis/Disease)

Answer 5

IgA deficiency

Question 6

Anterior “drawer sign” positive (Diagnosis/Disease)

Answer 6

Anterior cruciate ligament injury

Question 7

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints (Diagnosis/Disease)

Answer 7

Marfan syndrome (fibrillin defect)

Question 8

Athlete with polycythemia (Diagnosis/Disease)

Answer 8

Secondary to erythropoieten injection

Question 9

Back pain, fever, night sweats

Answer 9

Pott Disease (vertebral TB)

Question 10

Bilateral acoustic schwannomas

Answer 10

Neurofibromatosis type 2

Question 11

Bilateral hilar adenopathy, uveitis

Answer 11

Sarcoidosis (noncaseating granulomas)

Question 12

Black eschar on face of patient with diabetic ketoacidosis

Answer 12

Mucor or Rhizopus fungal infection

Question 13

Blue sclera

Answer 13

Osteogenesis imperfecta (type 1 collagen defect)

Question 14

Bluish line on gingiva

Answer 14

Burton line (lead poisoning)

Question 15

Bone pain, bone enlargement, arthritis

Answer 15

Paget disease of bone (increased osteoblastic and osteoclastic activity)

Question 16

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Answer 16

Aortic regurgitation

Question 17

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

Answer 17

Systemic lupus erythematosus

Question 18

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Answer 18

Neurofibromatosis type 1

Question 19

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

Answer 19

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

Question 20

Calf pseudohypertrophy

Answer 20

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

Question 21

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

Answer 21

Kawasaki disease (treat with IVIG and aspirin)

Question 22

“Cherry red spots” on macula

Answer 22

Tay-sachs disease (ganglioside accumulation) or Niemann-Pick disease (sphingomyelin accumulation) or central retinal artery occlusion

Question 23

Chest pain on exertion

Answer 23

Angina (stable: with moderate exertion; unstable with minimal exertion or at rest)

Question 24

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

Answer 24

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

Question 25

Chest pain with ST depression on EKG

Answer 25

Unstable angina (neg for troponins) or NSTEMI (pos for troponins)

Question 26

Child uses arms to stand up from squat

Answer 26

Duchenne muscular dystrophy (Gower’s sign)

Question 27

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

Answer 27

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

Question 28

Chorea, dementia, caudate degeneration

Answer 28

Huntington disease (autosomal dominant CAG repeat expansion)

Question 29

Chorioretinitis, hydrocephalus, intracranial calcifications

Answer 29

Congenital Toxoplasmosis

Question 30

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

Answer 30

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)