ISSN:
1432-1459
Keywords:
Cerebrotendinous xanothomatosis
;
Chenodeoxycholic acid
;
Peripheral neuropathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary A 30-year-old patient with cerebrotendinous xanothomatosis was studied over a 6-year period. The clinical manifestations were cataracts, intellectual deterioration, ataxia, palatal and pharyngeal myoclonus, corticospinal tract damage and an electrophysiologically demonstrated sensorimotor peripheral neuropathy. Peripheral motor and sensory nerve conduction velocity was slowed. Sural nerve biopsy revealed reduced densities of both myelinated and unmyelinated axons and teased fibres showed evidence of axonal regeneration and some remyelination. The loss of myelinated nerve fibres particularly affected those of larger diameter, thus contributing to the slowing of nerve conduction. Chenodeoxycholic acid treatment for two separate periods of 10 and 6 months each increased nerve conduction velocity. This electrophysiological improvement was not matched by detectable clinical neurological improvement.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00314598
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