Internal Medicine

0521779407-09 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:13

Homocystinuria Hookworm 725

Routine

■genetic counseling

■regular ophthalmology, orthopedics evaluations (as needed on an

individual basis)

■psychiatric evaluation if needed

complications and prognosis

Complications

■dietary non-compliance results in increased complications

■osteoporosis in 50% by age 20 years

■ectopia lentis nearly universal by age 40 years

■mental retardation common, but more severe in vitamin B6-

unresponsive patients

■psychiatric abnormalities in >50%

■cerebrovascular disease in 1/3 of patients (surgery is especially asso-

ciated with thromboembolism – increase IV hydration pre- and post-

operatively)

Prognosis

■progressive disease in patients with severe B6-unresponsive patients

■better prognosis in vitamin B6-responsive patients (IQ 82 in patients

diagnosed after infancy)

■early treated patients detected by newborn screening may result

in good outcome (median IQ 100 v. 58 in patients diagnosed after

infancy)

■vascular complications rare with therapy

Hookworm.........................................

J. GORDON FRIERSON, MD

history & physical

History

■Life cycle: Eggs of either Ancylostoma duodenale or Necatur amer-

icanus are passed in stool, hatch in soil. Larvae penetrate skin of

human, pass in circulation to lungs, cross to alveolae, migrate up

respiratory tract, and are swallowed. Upon reaching the intestine,

they attach with teeth to upper small intestine, feed on blood, and

mate, and new eggs are laid. Eggs appear 5 weeks after larvae pene-

trate skin.