Internal Medicine

0521779407-08 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 7:47

Galactosemia Gallbladder Cancers 599

■mental retardation, speech abnormalities, ovarian failure may occur

despite therapy, ovarian failure common despite therapy

Prognosis

■Hepatic, renal disease reversible with therapy (usually resolve within

1–2 weeks)

■cataracts reversible if therapy started <3 months of age

■mean IQ 70–90 if treated early, treatment does not guarantee normal

IQ

■speech and language problems occurs frequently

■ataxia, intention tremor may occur in older children, adults despite

therapy

■hypergonadotrophic hypogonadism in most girls >14 years, most

women infertile (normal puberty, fertility in males)

■NB: D/G heterozygotes do not have classic galactosemia, normal

outcomes without developmental, liver, kidney, ophthalmologic

complications

Gallbladder Cancers..................................

SUSAN A. CUMMINGS, MD

history & physical

■adenocarcinoma – 80%

■squamous cell carcinoma, cystadenocarcinoma – 20%

Risk Factors

■chronic cholecystitis

■80% have gallstones

■polyps when greater than 1cm

■porcelain gallbladder (calcification of gallbladder wall)

■carcinogens (rubber and petroleum products)

History

■abdominal pain, jaundice and fever

■weight loss and pruritus

■palpable mass in area of gallbladder

tests

Routine Tests

■elevated alkaline phosphatase and bilirubin but usually not as high

as in

■bile duct or ampullary cancers