[Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis].
The authors report the case of a 22-year old man presenting with cerebrotendinous xanthomatosis who developed peripheral neuropathy. Nerve biopsy showed evidence of demyelination and remyelination, suggesting axonal degeneration. The neurological symptoms improved after treatment with chenodesoxycholic acid.
Ben Hamida
M
M
Institut National de Neurologie, Tunis, Tunisie.
Chabbi
N
N
Ben Hamida
C
C
Mhiri
C
C
Kallel
R
R
D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D005267:Femoral Nerve / Q000473:pathology; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D013710:Tendons / Q000473:pathology; D014973:Xanthomatosis / Q000150:complications / Q000235:genetics*
Neuropathie périphérique dans un cas sporadique de xanthomatose cérébrotendineuse.