Classic Presentations III

Question 1

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 1

Alport syndrome (mutation in collagen IV)

Question 2

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 2

Kluber-Bucy syndrome (bilateral amygdala lesion)

Question 3

Hyperreflexia, hypertonia, babinski sign present

Answer 3

UMN damage

Question 4

Hyporefelxia, hypotonia, atrophy, fasciculations

Answer 4

LMN damage

Question 5

Hypoxemia, polycythemia, hypercapnia

Answer 5

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

Question 6

Indurated, ulcerated genital lesion

Answer 6

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 7

Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

Answer 7

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Question 8

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 8

Patau syndrome (Trisomy 13)

Question 9

Infant with hypoglycemia, hepatomegaly

Answer 9

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

Question 10

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

Answer 10

Edwards syndrome (Trisomy 18)

Question 11

Jaundice, palpable distended non-tender gallbladder

Answer 11

Courvoisier sign (distal obstruction of biliary tree)

Question 12

Large rash with bull’s-eye appearance

Answer 12

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

Question 13

Lucid interval after traumatic brain injury

Answer 13

Epidural hematoma (Middle meningeal artery rupture)

Question 14

Male child, recurrent infections, no mature B cells

Answer 14

Bruton disease (X-linked agammaglobulinemia)

Question 15

Mucosal bleeding and prolonged bleeding time

Answer 15

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

Question 16

Muffled heart sounds, distended neck veins, hypotension

Answer 16

Beck triad of cardiac tamponade

Question 17

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

Answer 17

Gardner syndrome (Subtype of FAP)

Question 18

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 18

Pompe disease (Lysosomal alpha-1,4-glucosidase deficiency)

Question 19

Neonate with arm paralysis following difficult birth

Answer 19

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

Question 20

No lactation postpartum, absent menstruation, cold intolerance

Answer 20

Sheehan syndrome (pituitary infarction)

Question 21

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 21

Multiple sclerosis

Question 22

Painful blue fingers/toes, hemolytic anemia

Answer 22

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

Question 23

Painful fingers/toeschangin color from blue to white to red with cold or stress

Answer 23

Raynaud’s phenomenon (vasospasm in extremities)

Question 24

Painful, raised red lesions on pads of fingers/toes

Answer 24

Osler nodes (infective endocarditis, immune complex deposition)