Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination
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DOI：
10.1016/j.braindev.2011.05.008
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发表时间：
2012-03-01
影响因子：
1.7
通讯作者：
Sumazaki, Ryo
中科院分区：
文献类型：
--
作者：
Tanaka, Ryuta;Iwasaki, Nobuaki;Sumazaki, Ryo
背景：18 q综合征是一种表现出中枢神经系统引起的各种症状的染色体疾病。脑磁共振成像（MRI）的病人，这种综合征通常表现出异常的白色物质的强度。这被广泛认为是由于髓鞘形成受损，因为这种综合征涉及18 q23中髓鞘碱性蛋白（MBP）基因的缺失。然而，由于早期死亡的情况并不常见，尸体解剖也很少，因此这一假说尚未得到实际病理学的证实。患者：1例患有18号环状染色体综合征的6岁男孩，通过MBP基因的遗传分析、脑MRI和尸体解剖进行了检查。T2加权MRI显示整个大脑白色物质弥漫性高信号。病理学检查示脑内白色物质呈均匀的Kluver-Barrera染色和MBP免疫组化染色。少突胶质细胞的蛋白脂质蛋白和铁蛋白，但没有MBP的免疫反应。电子显微镜下显示轴突群包裹在紧密的髓鞘中，具有明显的主要致密线。Holzer和免疫组化染色的胶质细胞酸性蛋白表现出广泛的染色的白色的问题和胶质filaments.Conclusions的数量增加：这项病理研究表明，在这种疾病，大脑髓鞘，相反，建立这种疾病的假设。18 q综合征的MRI信号异常可归因于神经胶质增生，而不是髓鞘形成障碍。(C)2011年日本儿童神经病学学会。Elsevier B. V.出版，保留所有权利。
Background: 18q-Syndrome is a chromosomal disorder exhibiting various symptoms arising from the central nervous system. Brain magnetic resonance imaging (MRI) of patients with this syndrome usually demonstrates abnormal white matter intensities. This is widely believed to be due to impaired myelin formation because this syndrome involves the deletion of the myelin basic protein (MBP) gene in 18q23. However, this hypothesis has not been confirmed by actual pathology because early death is unusual and autopsy rarely performed.Patient: A 6-year-old boy with ring chromosome 18 syndrome was examined by genetic analysis for the MBP gene, brain MRI, and autopsy.Results: Haploinsufficiency of the MBP gene was confirmed. T-2-weighted MRI revealed diffuse high intensities throughout the cerebral white matter. Pathological examination showed the cerebral white matter to be uniformly stained by Kluver-Barrera and MBP immunohistochemical staining. Oligodendrocytes were immunoreactive for proteolipid protein and ferritin but not MBP. Electron microscopy revealed clusters of axons wrapped in compact myelin sheaths with distinct major dense lines. Holzer and immunohistochemical staining for glial fibrillary acidic protein showed extensive staining of the white matter and an increased number of glial filaments.Conclusions: This pathological study demonstrated that in this disorder, the brain was well myelinated, contrary to established hypotheses about this disorder. The MRI signal abnormalities in 18q-syndrome could be attributed to gliosis and not to dysmyelination. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.