Peripheral neuropathy in cerebrotendinous xanthomatosis
D. A. Katz, L. Scheinberg, D. S. Horoupian and G. Salen
We performed a sural nerve biopsy in a patient with cerebrotendinous
xanthomatosis (CTX) because of electrophysiologic evidence of peripheral
neuropathy. The sections showed a striking loss of myelinated axons, the
distribution of which suggested a compressive and/or ischemic process.
Biochemical analysis disclosed large amounts of cholestanol, a cholesterol
derivative that characteristically accumulates in CTX. However, the
biochemical abnormality was not associated with any obvious structural
alterations in the myelin lamellae or with abnormal storage material in
Schwann's cells.
