Aicardi syndrome in a 47 XXY male - A variable developmental phenotype?

Jayakara Shetty (Lead / Corresponding author), Jenny Fraser, David Goudie, Martin Kirkpatrick

    Research output: Contribution to journalArticlepeer-review

    8 Citations (Scopus)

    Abstract

    Background
    Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability.

    Case report
    We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.
    Original languageEnglish
    Pages (from-to)529-531
    Number of pages3
    JournalEuropean Journal of Paediatric Neurology
    Volume18
    Issue number4
    Early online date12 Mar 2014
    DOIs
    Publication statusPublished - 2014

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