CEREBELLAR HYPOPLASIA IN CHILDREN WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

We describe seven children with the carbohydrate-deficient glycoprotei n syndrome, an autosomal recessive inborn error of protein glycosylati on characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuroradiological investigat ions revealed cerebellar hypoplasia in all seven children. Two childre n also developed supratentorial atrophy following episodes of neurolog ical deterioration.