Clinical Presentations

Question 1

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use (clindamycin, ampicillin)

Answer 1

Clostridium difficile infection

• dx: Detection of toxins in stool
• tx: metronidazole

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia

Question 3

Adrenal hemmorhage, adrenal insufficiency, hypotension, DIC

Answer 3

Waterhouse-Friderichsen syndrome (meningococcemia)

-High association w/ N. meningitidis

Question 4

Anaphylaxis following blood transfusion

Answer 4

IgA deficiency

• HSR
• Body has increased IgE which causes the anaphylaxis

Question 5

+ Anterior drawer sign

Answer 5

ACL injury

Question 6

Abdominal pain, ascites, hepatomegaly, nutmeg liver, polycythemia vera

Answer 6

Budd-Chiari Syndrome (posthepatic venous thrombosis)

Question 7

Arachnodactyly, lens dislocation, mitral valve prolapse, aortic dissection, hyperflexible joints, pectus excavatum

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 (in the region of CN VIII)

Answer 10

Neurofibromatosis type 2

Question 11

Bilateral hilar adenopathy, uveitis, hypercalcemia, increased ACE

Answer 11

Sarcoidosis

• African american female
• Noncaseating granulomas mediated by TH1, IL2, IFGamma

Question 12

Black eschar on face of patient with diabetic ketoacidosis

Answer 12

Mucor or Rhizopus fungal infxn

Question 13

Blue sclera

Answer 13

Osteogenesis imperfecta

-Type 1 collagen defect

Question 14

Bluish line on gingiva

Answer 14

Lead poisoning (Burton line)

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 women

Answer 17

SLE

Question 18

Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas

Answer 18

Neurofibromatosis type I

Question 19

Cafe au lait spots, polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Answer 19

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

Question 20

Calf psuedohypertrophy

Answer 20

Muscular dystrophy

-MC Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene

Question 21

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva, MCC of MI in children

Answer 21

Kawasaki disease

-tx: IVIG and aspirin

Question 22

Cherry red spots on macula

Answer 22

Tay-Sachs (ganglioside accumulation)