3

Question 1

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 1

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

Question 2

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Answer 2

Edwards syndrome (trisomy 18)

Question 3

Jaundice, palpable distended non-tender gallbladder

Answer 3

Courvoisier sign (distal obstruction of biliary tree)

Question 4

Large rash with bulls-eye appearance

Answer 4

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

Question 5

Lucid interval after traumatic brain injury

Answer 5

Epidural hematoma (middle meningeal artery rupture)

Question 6

Male child, recurrent infections, no mature B cells

Answer 6

Bruton disease (X-linked agammaglobulinemia)

Question 7

Mucosal bleeding and prolonged bleeding time

Answer 7

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 8

Muffled heart sounds, distended neck veins, hypotension

Answer 8

Beck triad of cardiac tamponade

Question 9

Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth

Answer 9

Gardner syndrome (subtype of FAP)

Question 10

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 10

Pompe disease (lysosomal a-1,4-glucosidase deficiency)

Question 11

Neonate with arm paralysis following difficult birth

Answer 11

Erb-Duchenne palsy (superior trunk [C5 to C6] brachial plexus injury: waiters tip)

Question 12

No lactation postpartum, absent menstruation, cold intolerance

Answer 12

Sheehan syndrome (pituitary infarction)

Question 13

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 13

Multiple sclerosis

Question 14

Oscillating slow/fast breathing

Answer 14

Cheyne-Stokes respirations (central apnea in CHF or increase intracranial pressure)

Question 15

Painful blue fingers/toes, hemolytic anemia

Answer 15

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

Question 16

Painful, pale, cold fingers/toes

Answer 16

Raynaud phenomenon (vasospasm in extremities)

Question 17

Painful, raised red lesions on pad of fingers/toes

Answer 17

Osler nodes (infective endocarditis, immune complex deposition)

Question 18

Painless erythematous lesions on palms and soles

Answer 18

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Question 19

Painless jaundice

Answer 19

Cancer of the pancreatic head obstructing bile duct

Question 20

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

Answer 20

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

Question 21

Pancreatic, pituitary, parathyroid tumors

Answer 21

MEN 1 (autosomal dominant)

Question 22

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

Answer 22

Nephrotic syndrome

Question 23

Pink complexion, dyspnea, hyperventilation

Answer 23

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

Question 24

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

Answer 24

Fanconi syndrome (proximal tubular reabsorption defect)