Classic Presentations 4

Question 1

Muffled heart sounds, distended neck veins, hypotension?

Answer 1

Beck’s triad of cardiac tamponade

Question 2

Multiple colon polyps, osteomas/soft tisue tumors, impacted/supernumerary teeth?

Answer 2

Gardner’s syndrome (subtype of FAP)

Question 3

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance?

Answer 3

Pompe’s dz (lysosomal a-1,4-glucosidase deficiency)

Question 4

Neonate with arm paralysis following difficult birth?

Answer 4

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

Question 5

No lactation postpartum, absent menstruation, cold intolerance?

Answer 5

Sheehan’s syndrome (pituitary infarction)

Question 6

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia?

Answer 6

Multiple sclerosis

Question 7

Oscillating slow/fast breathing?

Answer 7

Cheyne-Stokes respirations (central apnea in CHF or increased ICP)

Question 8

Painful blue fingers/toes, hemolytic anemia?

Answer 8

Cold agglutinin dz (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

Question 9

Painful, pale, cold fingers/toes?

Answer 9

Raynaud’s (vasospasm in extremities)

Question 10

Painful, raised red lesions on pad of fingers/toes?

Answer 10

Osler’s node (infective endocarditis, immune complex deposition)

Question 11

Painless erythematous lesions on palms and soles?

Answer 11

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Question 12

Painless jaundice?

Answer 12

Cancer of the pancreatic head obstructing bile duct

Question 13

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria?

Answer 13

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

Question 14

Pancreatic, pituitary, parathyroid tumors?

Answer 14

MEN 1 (autosomal dominant)

Question 15

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia?

Answer 15

Nephrotic syndrome

Question 16

Pink complexion, dyspnea, hyperventilation?

Answer 16

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])

Question 17

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets?

Answer 17

Fanconi’s syndrome (proximal tubular reabsorption defect)

Question 18

Positive anterior “drawer sign”?

Answer 18

Anterior cruciate ligament injury

Question 19

Pruritic, purple, polygonal planar papules and plaques (6 P’s)?

Answer 19

Lichen planus

Question 20

Ptosis, miosis, anhidrosis?

Answer 20

Horner’s syndrome (SNS chain lesions)