Diffuse Cerebral Degeneration in Infancy (Alpers' Disease)

Abstract

Five cases, in three families, of diffuse progressive degeneration of the brain in children, Alpers'' disease, are reported. Cerebral biopsies had been performed in each case during life. In five cases confirmation was obtained by post-mortem examination (see addendum). Clinically and histologically the cases were similar to previously reported cases except that in two cases there were pathological changes in the livers which were more severe than could reasonably be attributed solely to malnutrition during the latter part of the illness. Biochemically the presence of esterified cholesterol in all cases in the white and in all but one case in the grey matter indicated progressive myelin degeneration. Various possible aetiological and pathogenic mechanisms are considered. Consideration is given to the biochemical and histological findings in the biopsies, which enable the condition to be distinguished from amaurotic family idiocy, metachromatic leucodystrophy and sudanophilic diffuse sclerosis.