Classic Presentations I

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd Chiari syndrome (posthepatic venous thrombosis)

Question 2

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Answer 2

C. diff infection

Question 3

Achilles tendon xanthoma

Answer 3

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 4

Adrenal hemorrhage, hypotension, DIC

Answer 4

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 5

Anaphylaxis following blood transfusion

Answer 5

IgA deficiency

Question 6

Anterior drawer sign positive

Answer 6

ACL injury

Question 7

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 7

Marfan syndrome (fibrillin defect)

Question 8

Athlete with polycythemia

Answer 8

Secondary to erythropoietin 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 I 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, diastolic heart murmur, head bobbing

Answer 16

Aortic regurgitation

Question 17

Butterfly facial rash and Raynaud phenomenon in a young female

Answer 17

SLE

Question 18

CICLOPSS
Café-au-lait spots, Intellectual disability,
Cutaneous neurofibromas, Lisch
nodules (pigmented iris hamartomas),
Optic gliomas, Pheochromocytomas,
Seizures/focal neurologic Signs (often
from meningioma), bone lesions (eg,
sphenoid dysplasia).

Answer 18

Neurofibromatosis Type 1

Question 19

Calf pseudohypertrophy

Answer 19

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

Question 20

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

Answer 20

Kawasaki disease (treat with IVIG and aspirin)

Question 21

Chest pain on exertion

Answer 21

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

Question 22

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

Answer 22

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

Question 23

Chest pain with ST depressions on EKG

Answer 23

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

Question 24

Child uses arms to stand up from squat

Answer 24

Gowers sign (Duchenne muscular dystrophy)

Question 25

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

Answer 25

“Slapped cheeks” (erythema infectiosum/fifth disease: Parvovirus B19)

Question 26

Chorea, dementia, caudate degenration

Answer 26

Huntington disease (autosomal dominant CAG repeat expansion)

Question 27

Chorioretinitis, hydrocephalus, intracranial calcifications

Answer 27

Congenital toxoplasmosis