Reiss A L, Faruque F, Naidu S, Abrams M, Beaty T, Bryan R N, Moser H
Kennedy Kreiger Institute, Baltimore, MD 21205.
Ann Neurol. 1993 Aug;34(2):227-34. doi: 10.1002/ana.410340220.
Rett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age- and gender-matched control subjects was investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.
雷特综合征是一种病因不明的儿科神经疾病，其特征为严重的神经发育衰退、后天性小头畸形、痴呆、运动异常、自闭症行为以及幼儿期癫痫发作。在本研究中，采用定量神经成像技术对11名患有雷特综合征的女性和15名年龄及性别匹配的对照受试者进行了活体神经解剖学研究。与对照受试者相比，发现雷特综合征患者的脑容量显著减少；灰质损失比白质更大；皮质灰质存在区域差异，额叶区域减少最为明显；即使考虑到大脑整体大小的减小，尾状核和中脑的体积也有所减小。此外，在这个患有雷特综合征的女孩样本中，没有证据表明存在持续的退行性过程。这些数据与神经病理学研究结果的一致性表明，需要对患有这种疾病的儿童继续进行定量神经成像研究。特别是，对表现出该临床综合征早期迹象的幼儿进行系列纵向扫描的研究，有望帮助阐明导致雷特综合征使人衰弱的临床表现的神经病理途径。
