Familial syringomyelia: Incidental or hereditary?

Turkish Journal of Neurology, vol.31, no.1, pp.80-86, 2025 (ESCI)

Syringomyelia is a rare disease of the spinal cord, and its familial occurrence is even rarer. Both genetic and environmental factors

appear to be involved in familial syringomyelia. Herein, we presented a 51-year-old father and his 18-year-old son with clinically

and radiologically proven syringomyelia without Chiari malformation type 1. Both had a trauma history, which could render them

prone to the development of syringomyelia; however, the presence of another affected individual in the family history suggests

that genetic predisposition plays a more important role in the pathogenesis of this condition. Only one previous report of familial

syringomyelia originated from Türkiye, with ours being the second.