A case report of transient splenium abnormality in Charcot-Marie-Tooth disease

• Sugie Masayuki

  Department of Neurology, Showa University School of Medicine

• Ishihara Kenji

  Department of Neurology, Showa University School of Medicine

• Simizu Yuki

  Department of Neurology, Showa University School of Medicine

• Oono Hideki

  Department of Neurology, Showa University School of Medicine

• Kawamura Mituru

  Department of Neurology, Showa University School of Medicine

Bibliographic Information

Other Title

• ＭＲＩにて脳梁膨大部に一過性の異常信号をみとめたＣｈａｒｃｏｔ‐Ｍａｒｉｅ‐Ｔｏｏｔｈ病の１例
• MRIにて脳梁膨大部に一過性の異常信号をみとめたCharcot-Marie-Tooth病の1例
• MRI ニテ ノウリョウ ボウダイブ ニ イッカセイ ノ イジョウ シンゴウ オ ミトメタ Charcot Marie Toothビョウ ノ 1レイ

Abstract

We report a patient of Charcot-Marie-Tooth disease (CMT) accompanied by transient splenium abnormality in brain MRI. A 34-year-old man suffered from chronic progressive unsteadiness and sensory disturbance of all limbs. Neurological examination showed muscle weakness and atrophy in the distal extremities with pes cavus, mild sensory disturbance of four extremities and generalized decreased reflexes. The nerve conduction study described the presence of sensory-motor polyneuropathy. We could not investigate his GJB1 gene. However, we suspected that he was X-linked CMT (CMTX), because his electrophysiological findings showed intermediate slowing of MCV, and auditory brain-stem response (ABR) demonstrated central conduction slowing. Brain MRI revealed the abnormal high signal intensity in the splenium of the corpus callosum on T2-weighted image. This lesion diminished two months later without any treatment.<br> Recently, there had been reported transient splenium abnormality in CMTX cases, and there were clinical similarities between the cases of these reports and our case. We considered that the pathophysiology of this case was the disruption of gap junction communications expressed between oligodendrocyte and astrocytes induced by connexin 32 (Cx32) mutations. Furthermore, the transient functional disturbance of astrocytes would be another pathophysiologic mechanism of splenium abnormality.<br>

Journal

• Rinsho Shinkeigaku

  Rinsho Shinkeigaku 48 (5), 359-362, 2008

  Societas Neurologica Japonica

Keywords

• X-linked Charcot-Marie-Tooth disease
• splenium of corpus callosum
• connexin 32

Details

• CRID: 1390001205034759168
• NII Article ID: 130004504508
• NII Article ID: 10021187690
• NII Book ID: AN00253207
• DOI: 10.5692/clinicalneurol.48.359
• ISSN: 18820654
• ISSN: 0009918X
• NDL BIB ID: 9525221
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I9525221
• Web Site: https://search.jamas.or.jp/link/ui/2008235967
• Text Lang: ja
• Data Source:
  • JaLC
  • NDL
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed