Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report
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- Shimizu Chisato
- Department of Neurology, Gunma University Graduate School of Medicine
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- Kasahara Hiroo
- Department of Neurology, Gunma University Graduate School of Medicine
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- Furuta Natsumi
- Department of Neurology, Gunma University Graduate School of Medicine
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- Shibata Makoto
- Department of Neurology, Gunma University Graduate School of Medicine Department of Neurology, National Hospital Organization Takasaki General Medical Center
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- Nagashima Kazuaki
- Department of Neurology, Gunma University Graduate School of Medicine
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- Hashiguchi Akihiro
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
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- Takashima Hiroshi
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
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- Ikeda Yoshio
- Department of Neurology, Gunma University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 多量飲酒を契機に一過性の中枢神経病変を呈したCharcot-Marie-Tooth病の1例
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Description
<p>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.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 58 (8), 479-484, 2018
Societas Neurologica Japonica