Classic Presentations 3

Question 1

Fibrous plaques in soft tissue of penis?

Answer 1

Peyronie’s dz (CT disorder)

Question 2

Gout, mental retardation, self-mutilating behavior in a boy?

Answer 2

Lesch-Nyhan (HGPRT deficiency, X-linked recessive)

Question 3

Green-yellow rings around peripheral cornea?

Answer 3

Kayser-Fleischer rings (copper accumulation from Wilson’s dz)

Question 4

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands?

Answer 4

Peutz-Jeghers (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

Question 5

HSM, osteoporosis, neurologic sxs?

Answer 5

Gaucher’s dz (glucocerebrosidase deficiency)

Question 6

Hereditary nephritis, sensorineural hearing loss, cataracts?

Answer 6

Alport syndrome (mutation in alpha chain of collagen type IV)

Question 7

Hyperphagia, hypersexuality, hyperorality, hyperdocility?

Answer 7

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 8

Hyperreflexia, hypertonia, Babinski sign present?

Answer 8

UMN damage

Question 9

Hyporeflexia, hypotonia, atrophy, fasciculations?

Answer 9

LMN damage

Question 10

Hypoxemia, polycythemia, hypercapnia?

Answer 10

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

Question 11

Indurated, ulcerated genital lesion?

Answer 11

Nonpainful: chancre (primary syphilis, Treponema pallidum); Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 12

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

Answer 12

Patau’s syndrome (trisomy 13)

Question 13

Infant with failure to thrive, HSM, and neurodegeneration?

Answer 13

Niemann-Pick (genetic sphingomyelin accumulation)

Question 14

Infant with hypoglycemia, failure to thrive, and hepatomegaly?

Answer 14

Cori’s dz (a-1,6-glucosidase debranching EZ)

Question 15

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

Answer 15

Edward’s syndrome (trisomy 18)

Question 16

Jaundice, palpable distended non-tender gallbladder?

Answer 16

Courvoisier’s sign (distal obstruction of biliary tree)

Question 17

LArge rash with bull’s eye appearance?

Answer 17

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

Question 18

Lucid interval after traumatic brain injury?

Answer 18

Epidural hematoma (MMA rupture)

Question 19

Male child, recurrent infections, no mature B cells?

Answer 19

Bruton’s dz (X-linked agammaglobulinemia)

Question 20

Mucosal bleeding and prolonged bleeding time?

Answer 20

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