Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis.

  title={Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis.},
  author={Zohar Argov and Dov Soffer and S Eisenberg and Yvonne Zimmerman},
  journal={Annals of neurology},
  volume={20 1},
Three siblings with chemically proved cerebrotendinous xanthomatosis presented with typical neurological manifestations of dementia and spinocerebellar disorder. Electrodiagnostic tests revealed demyelinating neuropathy in all three. Sural nerve biopsies showed loss of myelinated large fibers, marked Schwann cell proliferation, and onion bulb formation. Teased-fiber preparations confirmed the occurrence of segmental demyelination and remyelination. We suggest that demyelinating neuropathy is… CONTINUE READING