Cerebrotendinous xanthomatosis

Two Jewish patients of a family of North African origin presented with progressive difficulty in maintaining balance and with dementia. They had cataracts and since the age of 10 had had enlargement of the Achilles tendons. They had elevated cholestine levels, but normal cholesterol and total lipids. The EEG revealed mild nonspecific abnormalities. They were recognized as cases of the syndrome of cerebrotendinous xanthomatosis, a lipid storage disease. Among members of the same family a possible subclinical case was found. The mode of inheritance was consistent with an autosomal recessive trait.