Familial syringomyelia: the first Japanese case and review of the literature

Clin Neurol Neurosurg. 2002 Dec;105(1):69-71. doi: 10.1016/s0303-8467(02)00091-4.

Abstract

We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Arnold-Chiari Malformation / genetics
  • Arnold-Chiari Malformation / pathology
  • Arnold-Chiari Malformation / surgery
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Syringomyelia / genetics*
  • Syringomyelia / pathology
  • Syringomyelia / surgery