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Case report of two family members with syringomyelia highlights genetic predisposition and trauma history's role in disease development.
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.
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Demirci et al. (2025) studied this question.
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