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Megalencephaly and chromosomal anomaly

H Budka

    Acta Neuropathologica
    |September 15, 1978
    PubMed
    Summary

    This study reports a rare case of Klinefelter syndrome (XXY) associated with true megalencephaly, a condition of abnormally large brain size. This finding highlights the potential genetic underpinnings of megalencephaly.

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    Area of Science:

    • Neuropathology
    • Clinical Genetics

    Background:

    • Megalencephaly, characterized by an abnormally large brain, is a complex condition with various potential causes.
    • True megalencephaly is a pathological diagnosis requiring significantly increased brain weight and morphological alterations.

    Observation:

    • A 6-year-old boy with Fallot's tetralogy presented with an exceptionally large brain (2230g) post-cardiac surgery.
    • The brain exhibited widespread polymicrogyria and neuronal dysdifferentiation without increased DNA content.

    Findings:

    • Nuclear Barr bodies confirmed an XXY chromosomal complement, indicative of Klinefelter syndrome.
    • This represents the first reported instance of Klinefelter syndrome associated with true megalencephaly.

    Implications:

    • The findings suggest a potential genetic etiology for some cases of true megalencephaly.
    • Further chromosomal studies are warranted to elucidate the genetic basis of megalencephaly.

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