• 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.
Katz DA, Scheinberg L, Horoupian DS, Salen G. Peripheral Neuropathy in Cerebrotendinous Xanthomatosis. Arch Neurol. 1985;42(10):1008–1010. doi:10.1001/archneur.1985.04060090090022
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