Clinical Presentations and diagnosis

Question 1

Abdominal pain, ascities, hepatomegaly

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (low LDL receptor signaling)

Question 3

Adrendal hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friderichsen syndrome

Question 4

Anterior drawer sign

Answer 4

ACL injury

Question 5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 5

Marfan syndrome (fibrillin defect)

Question 6

Athlete with polycythemia

Answer 6

secondary to erythropoietin injection; aka blood doping.

Question 7

Back pain, fever, night sweats, weight loss

Answer 7

Potts disease (vertebral TB)

Question 8

Bilateral hilar adenopathy (hilum of LN), uveitis (middle pigmented vascular structures of the eye)

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, enlargement and arthritis

Answer 11

Paget disease (increase in osteoclast activity followed by osteoblast activity)

Question 12

Bounding pulse, diastolic heart murmur, head bobbing

Answer 12

aortic regurgitation

Question 13

Butterfly rash and raynaud in young female

Answer 13

SLE

Question 14

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

Answer 14

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

Question 15

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities.

Answer 15

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