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Familial syringomyelia in two siblings: case report
Kenan Koç1, Ihsan Anik, Yonca Anik
1Kocaeli University, Neurosurgery Department, Kocaeli, Turkey.
Turkish Neurosurgery
|December 1, 2007
Summary
Familial syringomyelia, a rare spinal cord condition, was observed in two sisters affecting the thoracic region. This case highlights the potential genetic and environmental factors contributing to this unusual presentation.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Syringomyelia is a rare condition characterized by fluid-filled cavities within the spinal cord.
- While often associated with Chiari malformations, syringomyelia can occur independently.
Observation:
- Two sisters presented with thoracic syringomyelia, confirmed via magnetic resonance imaging (MRI).
- Neither sibling exhibited a Chiari malformation or other congenital abnormalities at the cranio-cervical junction.
- Neurological examinations were normal in both individuals, with small syrinx sizes and mild symptoms.
Findings:
- The first sister had syringomyelia between the T6-T8 vertebral levels.
- The second sister had syringomyelia between the T7-T9 vertebral levels.
- This presentation of familial thoracic syringomyelia without associated malformations is exceptionally rare.
Implications:
- The findings suggest that genetic and environmental factors may play a significant role in the development of familial syringomyelia.
- Further research into the etiology of familial syringomyelia is warranted.
- This case contributes to the understanding of rare neurological conditions and their potential genetic underpinnings.
