Rapid Review - Set 03 - Sheet1

Question 1

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration, cherry red spot on macula

Answer 1

Niemann-Pick disease (sphingomyelinase accumulation)

Question 2

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 2

Cori Disease (debranching enzyme deficiency)

Question 3

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

Answer 3

Edwards’ Syndrome (trisomy 18)

Question 4

Jaundice, palpable distended non-tender gallbladder

Answer 4

Courvoisier’s sign (distal obstruction of biliary tree)

Question 5

Large rash with bull’s eye appearance

Answer 5

Lyme disease’s: Borrelia –> Erythema chronicum migrans (Ixodes tick)

Question 6

Lucid interval after traumatic brain injury

Answer 6

Epidural hematoma (middle meningeal artery rupture)

Question 7

Male child, recurrent infections, no mature B cells

Answer 7

X-linked Agammaglobulinema (Bruton’s disease)

Question 8

Mucosal bleeding and prolonged bleeding time

Answer 8

Glanzmann’s Thrombasthenia (defect in platelet aggregation d/t lack of GpIIb/IIIa

Question 9

Muffled heart sounds, distended neck veins, hypotension

Answer 9

Cardiac Tamponade (Beck’s triad)

Question 10

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

Answer 10

Gardner’s Syndrome (subtype of Familial Adenomatous Polyposis)

Question 11

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 11

Pompe’s Disease (lysosomal alpha1,4 glucosidase deficiency)

Question 12

Neonate with arm paralysis following difficult birth

Answer 12

Erb-Duchenne Palsy (C5-C6 Brachial plexus injury of superior trunk; aka “waiter’s tip”)

Question 13

No lactation post-partum, absent menstruation, cold intolerance

Answer 13

Sheehan’s syndrome (pituitary infarction)

Question 14

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

Answer 14

Multiple Sclerosis

Question 15

Oscillating slow/fast breathing

Answer 15

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

Question 16

Painful blue fingers/toes, hemolytic anemia

Answer 16

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

Question 17

Painful, pale, cold fingers/toes

Answer 17

Raynaud’s phenomenon (vasospasm in extremities)

Question 18

Painful, raised red lesions on pad of fingers/toes

Answer 18

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

Question 19

Painless erythematous lesions on palms and soles

Answer 19

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Question 20

Painless jaundice

Answer 20

Pancreatic head cancer obstructing bile duct

Question 21

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

Answer 21

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

Question 22

Pancreatic, pituitary, parathyroid tumors

Answer 22

MEN 1 (autosomal dominant)

Question 23

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

Answer 23

Nephrotic syndrome

Question 24

Pink complexion, dyspnea, hyperventilation

Answer 24

“pink puffer” of emphysema (centriacinar=smoking; panacinar=alpha1-antitrypsin deficiency)