Galactosemia and Its Relation to Laennec's Cirrhosis

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.

Galactosaemia

“…A similar observation was made by Goldstein and Ennis. The liver changes that occur in cases with hepatomegaly were explored by biopsy methods by Bell et al (1950), Townsend et al (1951) and Bray et al (1952). The occurrence of the condition among siblings was noticed by several authors: Bell et at.…”