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Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis
Author(s) -
Argov Z.,
Soffer D.,
Eisenberg S.,
Zimmerman Y.
Publication year - 1986
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410200115
Subject(s) - cerebrotendinous xanthomatosis , remyelination , medicine , peripheral neuropathy , sural nerve , multiple sclerosis , pathology , diabetes mellitus , endocrinology , immunology , central nervous system , myelin , cholesterol
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 part of the neurological spectrum of cere‐brotendinous xanthomatosis and should be considered in the differential diagnosis of a recessively inherited motor and sensory neuropathy.