Familial syringomyelia: case report and review of the literature

Ital J Neurol Sci. 1993 Dec;14(9):637-9. doi: 10.1007/BF02339249.

Abstract

We report a case of familial syringomyelia consisting of two sisters, one of whom had syringomyelia and Chiari type I malformation and the other, who had died 5 years earlier, had syringomyelia and Klippel-Feil syndrome. Although syringomyelia is uncommon and familial cases rare, they continue to be reported from time to time. Review of the literature certainly suggests that genetic factors play a part in the etiopathogenesis of syringomyelia related to abnormalities of the hindbrain structures, although the number of cases is too small for the exact nature of transmission be established.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arnold-Chiari Malformation / complications
  • Electromyography
  • Female
  • Humans
  • Klippel-Feil Syndrome / complications
  • Magnetic Resonance Imaging
  • Myelography
  • Syringomyelia / complications
  • Syringomyelia / diagnosis
  • Syringomyelia / genetics*