NEURORADIOLOGICAL FINDINGS IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfuncti on during infancy, cerebellar ataxia and atrophy, polyneuropathy, grow th retardation, stroke-like episodes, and the appearance of carbohydra te-deficient fractions of multiple glycoproteins in the serum. The neu roradiological findings have been known as features of olivopontocereb ellar atrophy. However, whether the abnormalities in the cerebellum an d brain stem progress after birth is not known. We have carried out se rial CT and MRI on three Japanese patients with this syndrome at diffe rent ages, A small cerebellum, with peculiar enlargement of the cister na magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemis pheres seem to progress throughout early childhood.