학술논문
遗传性弥漫性白质脑病合并轴索球样变的临床与影像学研究 / Retrospective Study on Clinical and Radiological Characteristics of Hereditary Diffuse Leukoencephalopathy with Spheroids
Document Type
Academic Journal
Source
中国医学计算机成像杂志 / Chinese Computed Medical Imaging. 29(6):599-602
Subject
Language
Chinese
ISSN
1006-5741
Abstract
目的:探讨遗传性弥漫性白质脑病合并轴索球样变(HDLS)的临床表现和MRI特征.方法:回顾性分析14例就诊于瑞金医院的HDLS患者的临床和影像学资料.结果:14例HDLS患者,平均发病年龄(38.43±6.80)岁,最常见的临床症状是进行性认知功能减退.异常MRI表现主要有侧脑室周围的白质病变、胼胝体萎缩和弥散加权成像(DWI)显示弥散受限.结论:HDLS临床表现多样,容易误诊,侧脑室周围脑白质变性、胼胝体萎缩和病变脑白质内DWI高信号提示HDLS的可能,有助于早期诊断.
Purpose:To investigate the clinical symptoms and imaging characteristics of hereditary diffuse leukoencephalopathy with spheroids(HDLS).Methods:The clinical and imaging data of 14 patients with HDLS treated in Ruijin Hospital were retrospectively analyzed.Results:The mean age of onset was(38.43±6.80)years in 14 patients with HDLS,and the most common clinical symptom was progressive cognitive hypoacusis.The main abnormal MRI findings were white matter lesions around the lateral ventricles,atrophy of the corpus callosum and diffusion restriction on DWI.Conclusion:HDLS has a diverse clinical presentation and is easily misdiagnosed.High intensity DWI signal in the white matter of the diseased brain,atrophy of the corpus callosum,and degeneration of the white matter around the lateral ventricle suggests the possibility of HDLS and might be helpful for the early diagnosis of HDLS.
Purpose:To investigate the clinical symptoms and imaging characteristics of hereditary diffuse leukoencephalopathy with spheroids(HDLS).Methods:The clinical and imaging data of 14 patients with HDLS treated in Ruijin Hospital were retrospectively analyzed.Results:The mean age of onset was(38.43±6.80)years in 14 patients with HDLS,and the most common clinical symptom was progressive cognitive hypoacusis.The main abnormal MRI findings were white matter lesions around the lateral ventricles,atrophy of the corpus callosum and diffusion restriction on DWI.Conclusion:HDLS has a diverse clinical presentation and is easily misdiagnosed.High intensity DWI signal in the white matter of the diseased brain,atrophy of the corpus callosum,and degeneration of the white matter around the lateral ventricle suggests the possibility of HDLS and might be helpful for the early diagnosis of HDLS.