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Related Experiment Videos

Aicardi's syndrome. A clinicopathologic study.

R G McMahon, R A Bell, G R Moore

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |February 1, 1984
    PubMed
    Summary
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    Aicardi syndrome, a rare genetic disorder, presents with brain abnormalities like polymicrogyria and corpus callosum agenesis. Ocular defects include atypical colobomas and retinal pigment epithelium changes, offering insights into pathogenesis.

    Area of Science:

    • Neurology
    • Ophthalmology
    • Genetics

    Background:

    • Aicardi syndrome is a rare genetic disorder affecting primarily females.
    • Characterized by specific neurological and ocular abnormalities.
    • Early diagnosis and understanding of pathogenesis are crucial.

    Observation:

    • A 9-week-old female infant presented with classic Aicardi syndrome features.
    • Autopsy at 21 months revealed polymicrogyria and agenesis of the corpus callosum.
    • Histopathology showed ocular defects including atypical colobomas and retinal pigment epithelium abnormalities.

    Findings:

    • The brain exhibited polymicrogyria and agenesis of the corpus callosum.
    • Ocular findings included bilateral atypical colobomatous defects.

    Related Experiment Videos

  • Specific retinal pigment epithelium changes and ectatic scleral channels were noted in the left eye.

    • Implications:

    • This case provides detailed neuropathological and ophthalmological findings in Aicardi syndrome.
    • Understanding these defects aids in discussing the syndrome's pathogenesis.
    • Further research can improve diagnostic and therapeutic strategies for Aicardi syndrome.