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Asymmetrical polyneuropathy with a stepwise progressive course and well‐demarcated areas of demyelination
Author(s) -
Vital Anne,
Barat Michel,
Lagueny Alain,
Latour Philippe,
Vital Claude
Publication year - 1999
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199908)22:8<1139::aid-mus22>3.0.co;2-x
Subject(s) - medicine , polyneuropathy , peripheral myelin protein 22 , pathology , muscle biopsy , weakness , sural nerve , nerve biopsy , schwann cell , biopsy , anatomy , myelin , peripheral neuropathy , endocrinology , central nervous system , diabetes mellitus
A female patient was 12 years old when she presented with hemiatrophy and muscle weakness on the right side of her body. Then a stepwise worsening occurred, and at 19 years of age sensory symptoms were also noticed, as well as a mild involvement of the left part of her body. The cerebrospinal fluid (CSF) protein level was elevated without cells. The main electrophysiological abnormality was a marked temporal dispersion of the compound muscle action potentials (CMAPs). Motor nerve conduction velocities were moderately reduced. A superficial peroneal nerve biopsy revealed well‐demarcated areas of demyelination with prominent Schwann cell hyperplasia. Neither deletion nor duplication of the PMP22 gene nor mutation of the P0 or connexin 32 genes was found by molecular genetic investigations. Immunotherapy was administered, and over the next 6 years the symptomatology fluctuated. This unusual disorder seems to be a variant of chronic acquired demyelinating polyneuropathy and may be immunologically mediated. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 1139–1145, 1999