Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
复制标题
DOI：
10.1093/brain/awq257
复制
发表时间：
2010-10-01
期刊：
影响因子：
14.5
通讯作者：
van der Knaap, Marjo S.
中科院分区：
文献类型：
--
作者：
Steenweg, Marjan E.;Vanderver, Adeline;van der Knaap, Marjo S.
在越来越多的具有共同临床特征的遗传疾病的背景下观察到髓鞘退化。本研究的目的是确定磁共振成像模式识别在区分不同的低髓鞘疾病中的可能作用，从而促进诊断过程。本回顾性研究仅包括已知原因的髓鞘退化患者。本组共纳入112例Pelizaeus-Merzbacher病、先天性白内障、促性腺功能减退和下颌缺损、Pelizaeus-Merzbacher样病、婴儿GM1和GM2神经节脂质沉积症、Salla病和聚焦沉着症患者。脑部扫描使用标准评分表进行评分；评分者对诊断结果一无所知。采用聚类分析对患者进行分组。发现了10组具有相似磁共振成像异常的患者。最重要的鉴别项目是早期小脑萎缩、T-2加权图像上白质信号的均匀性、基底节区信号强度异常、脑桥信号异常和深部白质额外的T-2病变。8个集群分别主要代表一种疾病（即Pelizaeus-Merzbacher病、先天性白内障的髓鞘发育低下、促性腺功能低下和下颌发育低下、婴儿GM1和GM2神经节脂质沉积症、Pelizaeus-Merzbacher样疾病和聚焦沉着症）；只有两个群集包含多种疾病。Pelizaeus-Merzbacher-like病分为两类，Salla病没有聚集。这项研究表明，它是可能的分离患者的已知原因的低髓鞘疾病在集群基于磁共振成像异常单独。在大多数Pelizaeus-Merzbacher病、先天性白内障的髓鞘发育低下、促性腺功能低下和牙髓发育低下、Pelizaeus-Merzbacher样病、婴儿GM1和GM2神经节脂质沉积症和聚焦病的病例中，影像学表现可为诊断提供线索。
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in this retrospective study. A total of 112 patients with Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, Salla disease and fucosidosis were included. The brain scans were rated using a standard scoring list; the raters were blinded to the diagnoses. Grouping of the patients was based on cluster analysis. Ten clusters of patients with similar magnetic resonance imaging abnormalities were identified. The most important discriminating items were early cerebellar atrophy, homogeneity of the white matter signal on T-2-weighted images, abnormal signal intensity of the basal ganglia, signal abnormalities in the pons and additional T-2 lesions in the deep white matter. Eight clusters each represented mainly a single disorder (i.e. Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, infantile GM1 and GM2 gangliosidosis, Pelizaeus-Merzbacher-like disease and fucosidosis); only two clusters contained multiple diseases. Pelizaeus-Merzbacher-like disease was divided between two clusters and Salla disease did not cluster at all. This study shows that it is possible to separate patients with hypomyelination disorders of known cause in clusters based on magnetic resonance imaging abnormalities alone. In most cases of Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis and fucosidosis, the imaging pattern gives clues for the diagnosis.