De- and remyelination and onion bulb in cerebrotendinous xanthomatosis

In a case of cerebrotendinous xanthomatosis (CTX), confirmed biochemically and histologically quantitative histological studies of the biopsies sural nerve revealed significantly higher incidence of de- and remyelination and onion bulb than in controls. The density of total myelinated fibers fell within the range of controls, although the density of large myelinated fibers seemed to be slightly decreased. It was suggested that the preferential involvement of the myelin sheath and Schwann cell may exist in CTX.