Budka H
Acta Neuropathol. 1978 Sep 15;43(3):263-6. doi: 10.1007/BF00691589.
A 6-year-old mentally retarded boy died after cardiac surgery for Fallot's tetralogy. The brain was of enormous size, weighing 2230 grams 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
一名6岁智力发育迟缓男孩在法洛四联症心脏手术后死亡。其大脑体积巨大，重达2230克，表现为广泛的多小脑回以及向规则的大型锥体神经元分化异常，且DNA含量未增加。核巴氏小体提示XXY染色体（克兰费尔特）综合征，此前在巨脑症中尚未有过报道。真性巨脑症（不包括症状性类型）应始终作为一种病理诊断，且仅限于除形态学改变外脑重量异常增高的病例。有证据表明许多巨脑症病例存在遗传基础，染色体研究在这方面可能会提供更多信息
