Choi H, Ho K C, Luprecht G L
Acta Neurol Scand. 1980 Dec;62(6):357-67. doi: 10.1111/j.1600-0404.1980.tb03048.x.
At autopsy, 72-year-old white male with chromatin-negative Klinefelter's syndrome, mental retardation, psychotic behavior, and carcinoma of the lung was noted to have right unilateral focal cerebral and cerebellar megalencephaly with broad gyri, a cytoarchitectually abnormal cortex, and thickened cerebral vessels. Literature about the neuropathology of Klinefelter's syndrome and several cases of other chromosome aberrations (XYY and XO syndromes) are reviewed. These neuropathological changes are thought to be related to clinical manifestation.
尸检发现,一名72岁患有染色质阴性克兰费尔特综合征、智力发育迟缓、精神病行为和肺癌的白人男性,右侧单侧局灶性大脑和小脑巨脑症,脑回增宽,皮质细胞结构异常,脑血管增厚。本文回顾了关于克兰费尔特综合征神经病理学的文献以及其他几种染色体畸变(XYY和XO综合征)的病例。这些神经病理学变化被认为与临床表现有关。