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Sneddon's syndrome.

I A Scott, R S Boyle

    Australian and New Zealand Journal of Medicine
    |December 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Sneddon's syndrome, a rare condition causing livedo reticularis and stroke, was diagnosed in a young woman. The case highlights the importance of recognizing this syndrome and its genetic links.

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    Area of Science:

    • Neurology
    • Dermatology
    • Genetics

    Background:

    • Sneddon's syndrome is a rare, non-inflammatory occlusive hydrocephalus characterized by the association of livedo reticularis with recurrent ischemic stroke.
    • The syndrome's exact pathogenesis remains unclear, but genetic factors are suspected, particularly given its familial occurrence.

    Observation:

    • A 24-year-old woman presented with generalized livedo reticularis and progressive intellectual decline.
    • Cerebral imaging revealed multifocal cerebral infarction, and angiography demonstrated occlusive cerebrovascular disease, including an arteriovenous malformation and moya-moya type anastomoses.
    • The patient's older brother exhibited similar symptoms, including the characteristic skin condition and diagnosed cerebrovascular disease, suggesting a hereditary component.

    Findings:

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  • The clinical presentation and diagnostic findings in this case are consistent with Sneddon's syndrome.
  • The identification of occlusive cerebrovascular disease, arteriovenous malformation, and moya-moya patterns in the cerebral angiography supports the diagnosis.
  • The familial occurrence strongly suggests a genetic basis for Sneddon's syndrome.

    • Implications:

    • This case underscores the importance of considering Sneddon's syndrome in young patients presenting with livedo reticularis and neurological deficits.
    • Further research into the genetic underpinnings and natural history of Sneddon's syndrome is warranted.
    • Early diagnosis and management may be crucial for improving outcomes in patients with this rare condition.