NEUROANATOMY OF RETT-SYNDROME - A VOLUMETRIC IMAGING STUDY
NEUROANATOMY OF RETT-SYNDROME - A VOLUMETRIC IMAGING STUDY
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DOI：
10.1002/ana.410340220
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发表时间：
1993-08-01
影响因子：
11.2
通讯作者：
MOSER, H
中科院分区：
文献类型：
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作者：
REISS, AL;FARUQUE, F;MOSER, H
瑞特综合征是一种病因不明的儿科神经系统疾病，其特征为年幼女童出现严重的神经发育衰退、获得性小头畸形、痴呆、运动异常、自闭症行为以及癫痫发作。在这项研究中，采用定量神经影像学技术对11名瑞特综合征女性患者以及15名年龄和性别匹配的对照受试者的神经解剖结构进行了体内研究。与对照受试者相比，发现瑞特综合征患者的脑容量显著减少；有证据表明灰质的减少程度大于白质；皮质灰质存在区域差异，额叶区域减少最为明显；尾状核和中脑体积减小，即使考虑到大脑整体尺寸的普遍缩小也是如此。此外，在这组瑞特综合征女童样本中没有持续退行性过程的证据。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影像学研究。特别是，对表现出临床综合征早期迹象的幼儿进行系列纵向扫描的研究，有望帮助阐明导致瑞特综合征使人衰弱的临床表现的神经病理学途径。
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.