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Related Experiment Videos

Familial communicating syringomyelia.

S Giménez-Roldán, C Benito, D Mateo

    Journal of the Neurological Sciences
    |March 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Familial syringomyelia, often linked to Chiari malformation type I, can be detected early through clinical and radiological surveys in relatives. Surgical intervention may improve neurological function in affected individuals.

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    Area of Science:

    • Neurology
    • Genetics
    • Neurosurgery

    Background:

    • Syringomyelia is a condition characterized by a fluid-filled cyst within the spinal cord.
    • Familial cases suggest a potential genetic component.
    • Chiari malformation type I is frequently associated with syringomyelia.

    Purpose of the Study:

    • To investigate the inheritance pattern and clinical presentation of syringomyelia in a family.
    • To evaluate the effectiveness of surgical intervention for familial syringomyelia.
    • To establish guidelines for early detection in at-risk families.

    Main Methods:

    • Clinical and radiological examination of affected individuals and first-degree relatives.
    • Air myelography to diagnose Chiari malformation type I and spinal cord abnormalities.

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  • Surgical intervention (suboccipital decompressive craniotomy and upper cervical laminectomy) in one patient.

    • Main Results:

    • Three family members diagnosed with classical cervical syringomyelia, Chiari malformation type I, and spinal cord collapse.
    • Early detection of syringomyelia in a 7-year-old boy through family screening.
    • One patient showed significant improvement in strength and sensation after surgery.
    • No correlation found between cyst size/tonsillar descent and neurological deficit severity.

    Conclusions:

    • Familial syringomyelia likely follows a dominant inheritance pattern, possibly due to a genetically determined malformation.
    • Progression mechanisms are similar to sporadic syringomyelia, indicating surgical indication.
    • Routine screening of relatives for neurological and radiological signs aids early diagnosis.