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Familial syringomyelia.

N A Busis, F H Hochberg

    Journal of Neurology, Neurosurgery, and Psychiatry
    |September 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Syringobulbia and syringomyelia are rare spinal cord conditions. This case study details a woman diagnosed with both, and her sister with syringomyelia, highlighting diagnostic confirmation.

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    Area of Science:

    • Neurology
    • Neurosurgery
    • Genetics

    Background:

    • Syringomyelia is a rare condition characterized by a fluid-filled cyst within the spinal cord.
    • Syringobulbia involves a similar cyst extending into the brainstem.
    • Familial occurrence suggests a potential genetic component in some cases.

    Observation:

    • A case series describing two sisters with spinal cord conditions.
    • The first sister presented with both syringobulbia and syringomyelia.
    • The second sister was diagnosed with syringomyelia.

    Findings:

    • Radiological and surgical confirmation of syringobulbia and syringomyelia in the first sister.
    • No other significant abnormalities of the craniocervical junction were identified in the affected sister.

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  • The diagnosis in the second sister was also confirmed.

    • Implications:

    • Understanding the presentation and diagnosis of syringobulbia and syringomyelia.
    • Further investigation into potential genetic factors for familial cases.
    • Importance of comprehensive radiological and surgical evaluation for accurate diagnosis.