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Aicardi syndrome--a case report.

J H Wang, C D Roan, K P Chang

    Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed
    |February 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

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    Aicardi syndrome, a rare genetic disorder, presents with infantile spasms and developmental delays. This report details a classic case in a female infant, highlighting key diagnostic features.

    Area of Science:

    • Neurology
    • Genetics
    • Ophthalmology

    Background:

    • Aicardi syndrome is a rare neurodevelopmental disorder first described in 1965.
    • It primarily affects females and is characterized by infantile spasms, corpus callosum defects, and chorioretinopathy.
    • The etiology remains unknown, but an X-linked mutation with male lethality is suspected.

    Observation:

    • This report presents a case of a 43-day-old female infant with Aicardi syndrome.
    • The infant exhibited classic features including flexion spasms and microphthalmia.
    • Characteristic electroencephalogram (EEG) findings and lacunar chorioretinopathy were observed.

    Findings:

    • The patient displayed key diagnostic markers of Aicardi syndrome.
    • Confirmed dysgenesis of the corpus callosum and characteristic lacunar chorioretinopathy were noted.

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  • The case aligns with the typical presentation of Aicardi syndrome in female infants.

    • Implications:

    • This case contributes to the understanding of Aicardi syndrome's clinical spectrum.
    • Early diagnosis and recognition of classic features are crucial for management.
    • Further research into the genetic basis of Aicardi syndrome is warranted.