Familial syringomyelia: Incidental or hereditary?

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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Publication Details

Journal
Turkish Journal Of Neurology
Published
2025-03-01
DOI
https://doi.org/10.55697/tnd.2025.228
Primary Topic
Spinal Dysraphism and Malformations
Type
article
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article

Familial syringomyelia: Incidental or hereditary?

Melike Doğan Ünlü, Serpil Demirci
Turkish Journal Of Neurology
Spinal Dysraphism and Malformations
article

Familial syringomyelia: Incidental or hereditary?

Melike Doğan Ünlü, Serpil Demirci
article en

Abstract

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.

Turkish Journal Of NeurologyVol. 31(1)
Süleyman Demirel Üniversitesi (TR), Suleyman Demirel University (KZ)
Openalex Percentile: Top 52%
Spinal Dysraphism and Malformations
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