Familial Leucodystrophy

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Abstract
The clinical, histological, and biochemical features are described for 4 small children in 2 families suffering from progressive physical and mental deterioration after a few months of normal development. Their clinical features, which were remarkably similar, were in keeping with a diagnosis of meta-chromatic leucodystrophy but included megacolon associated with attacks of abdominal distension. Metachromatic deposits were present in 2 of the brains but their nature was not characteristic of metachromatic leucodystrophy. Chemical evidence favoring the diagnosis of metachromatic leucodystrophy was found in the 2 patients in 1 family but not in a patient from the other family. It was suggested that the first group of patients belong to a group of disorders that includes metachromatic leucodystrophy, in which the common factor is an inborn disturbance of myelin metabolism. Chemical and other differences between the brains in different families are assumed to be due to specific biochemical defects affecting different stages in the metabolism of myelin.