Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases.

Abstract

Five additional cases of galactosemia are added to the steadily increasing number of reports in the literature. A follow-up note is included regarding a sixth case in a patient now 18 years of age, previously reported from this hospital. Two of these cases developed cirrhosis of the liver in a manner suggesting that galactosemia per se was the cause. Histologic examination of the liver in both cases confirmed the anatomic diagnosis. A 10 year follow-up on Mason and Turner's reported Case 7 demonstrates that the illness is chronic but that with advancing years, demonstrable evidence of somatic damage is lacking. Mental retardation is a common complication of the disorder in the present investigators' experience. Cirrhosis of the liver accompanying galactosemia appears to be reversible, so far as can be determined.