Chromatin-negative Klinefelter's syndrome with focal megalencephaly

Autor: Geri Lyn Luprecht, Khang-Cheng Ho, Hongyung Choi
Rok vydání: 2009
Předmět:
Zdroj: Acta Neurologica Scandinavica. 62:357-367
ISSN: 1600-0404
0001-6314
Popis: 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.
Databáze: OpenAIRE