Megalencephaly and chromosomal anomaly

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Abstract
Summary A 6-year-old mentally retarded boy died after cardiac surgery for Fallot's tetralogy. The brain was of enormous size, weighing 2230 g and showing widespread polymicrogyria and dysdifferentiation to regular large pyramidal neurons without increased DNA content. Nuclear Barr bodies indicated a XXY-chromosomal (Klinefelter) syndrome, which has not been previously reported in megalencephaly. True megalencephaly (excluding the symptomatic forms) should remain a pathological diagnosis and restricted to cases with an abnormally high brain weight in addition to morphological alterations. There is evidence for a genetic base in many cases of megalencephaly, and chromosomal studies may yield more information in this respect.

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