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• Vol.58 No.8
• CLINICA NEUROL, 58: 479−484, 2018
• Vol.58 No.8 contents

Case Report

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

Chisato Shimizu, M.D.¹⁾, Hiroo Kasahara, M.D.¹⁾, Natsumi Furuta, M.D., Ph.D.¹⁾, Makoto Shibata, M.D.¹⁾²⁾, Kazuaki Nagashima, M.D., Ph.D.¹⁾, Akihiro Hashiguchi, M.D., Ph.D.³⁾, Hiroshi Takashima, M.D., Ph.D.³⁾ and Yoshio Ikeda, M.D., Ph.D.¹⁾

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

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.
Full Text of this Article in Japanese PDF (531K)

(CLINICA NEUROL, 58: 479−484, 2018)
key words: Charcot-Marie-Tooth disease, GJB1, X-linked dominant, transient central nervous system lesion

(Received: 20-Dec-17)