Classic Presentations 3

Question 1

Infant with failure to thrive
Hepatosplenomegaly
Neurodenegeration

Answer 1

Neimann Pick disease (genetic sphingomyelinase deficiency)

Question 2

Infant with hypoglycemia
failure to thrive
hepatomegaly

Answer 2

Cori’s disease (debranching enzyme deficiency)

Question 3

Infant with microcephaly
rocker bottom feet
clenched hands and 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

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

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

Bruton’s disease (X-linked agammaglobuliemia)

Question 8

mucosal bleeding and prolonged bleeding time

Answer 8

Glazmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 9

muffled heart sounds, distended neck veins, hypotension

Answer 9

Beck’s triad of cardiac tamponade

Question 10

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

Answer 10

Gardner’s syndrome (subtype of FAP)

Question 11

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 11

Pompe’s disease (lysosomal alpha 1,4 glucosidase deficiency)

Question 12

Neonate with arm paralysis following difficult birth

Answer 12

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: Waiter’s tip”)

Question 13

No lactation postpartum, absent menstruation, cold intolerance

Answer 13

Sheehan’s syndrome (Pituitary infxn)

Question 14

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 14

Multiple sclerosis

SIIN

Question 15

Oscillating slow/fast breathing

Answer 15

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

Question 16

painful blue fingers/toes

hemolytic anemia

Answer 16

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

Question 17

Painful, pale, cold fingers/toes

Answer 17

Paynaud’s phenomenon (vasospasm in extremities)

Question 18

painful, raised red lesions on pad of fingers/toes

Answer 18

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

Question 19

Painless erythematous lesions on palms and soles

Answer 19

Janeway lesions (infxtive endocarditis, septic emboli/microabscess)

Question 20

painless jaundice

Answer 20

cancer of the pancreatic head 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”
– emphysema: centriacinar - smoking
panacinar - alpha-1 antitrypsin deficiency