Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

We describe seven Dutch patients from six families with a slowly progressiv e, mainly spinal cord syndrome that remained for many years the sole expres sion of cerebrotendinous xanthomatosis (CTX), MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-m ortem examination of one of the patients showed extensive myelin loss in th ese columns. An array of genotypes was found in these patients. We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic m yelopathy'.