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[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

Authors
  • Shimizu, Chisato1
  • Kasahara, Hiroo1
  • Furuta, Natsumi1
  • Shibata, Makoto1, 2
  • Nagashima, Kazuaki1
  • Hashiguchi, Akihiro3
  • Takashima, Hiroshi3
  • Ikeda, Yoshio1
  • 1 Department of Neurology, Gunma University Graduate School of Medicine.
  • 2 Department of Neurology, National Hospital Organization Takasaki General Medical Center.
  • 3 Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences.
Type
Published Article
Journal
Rinsho shinkeigaku = Clinical neurology
Publication Date
Aug 31, 2018
Volume
58
Issue
8
Pages
479–484
Identifiers
DOI: 10.5692/clinicalneurol.cn-001130
PMID: 30068806
Source
Medline
Keywords
Language
Japanese
License
Unknown

Abstract

A 23-year-old man experienced numbness in the perioral region and right arm, and right leg weakness on the second day after drinking a large amount of alcohol during foreign travel. His symptoms disappeared but then reappeared repetitively. Cerebral MRI performed on the third day after onset showed multiple white matter lesions; however, these lesions disappeared 26 days after onset. Neurological examination and nerve conduction studies revealed demyelinating polyneuropathy. Genetic testing for Charcot-Marie-Tooth disease, X-linked dominant 1 (CMTX1) due to GJB1 mutation was conducted based on the symptoms of transient central nervous system lesions and polyneuropathy exhibited by the patient and his mother. As a result, a c.530T>C (p.V177A) substitution in exon 2 of GJB1 was identified. CMTX1 patients should be advised to avoid excessive drinking because this could induce central nervous system lesions.

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