Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Acta Neurol Scand. 2010 May;121(5):328-37. doi: 10.1111/j.1600-0404.2009.01219.x. Epub 2009 Nov 19.
Leukoencephalopathies are a heterogeneous group of severe encephalopathy syndromes with myelin, axonal or vascular pathology, typically with extensive white matter lesions on MRI T2-FSE and/or -FLAIR sequences.
This review is restricted to leukoencephalopathies with onset in adult age and a dominant inheritance. These diseases are generally severe and often lethal and present with an exacerbating or insidiously progressive course.
The focus is on four syndromes with pure leukoencephalopathies, however, leukoencephalopathies with associated clinical features are included.
T2 weighted MR imaging often show features common for leukoencephalopathies, yet shows distinguishing features in transthyretin amyloidosis.
The diagnosis within the group of leukoencephalopathies thus characterized by MRI relies mainly upon clinical and genetic analysis. The differential diagnosis against treatable leukoencephalopathies is increasingly relevant.
脑白质病是一组严重的脑病综合征，具有髓鞘、轴突或血管病理学特征，通常在 MRI T2-FSE 和/或 -FLAIR 序列上有广泛的白质病变。
本综述仅限于成年起病和显性遗传的脑白质病。这些疾病通常较为严重，且往往致命，表现为进行性或隐匿性加重。
重点介绍了四种以单纯脑白质病为特征的综合征，但也包括伴有相关临床特征的脑白质病。
T2 加权磁共振成像常显示出脑白质病的共同特征，但在转甲状腺素蛋白淀粉样变性中显示出了独特的特征。
因此，通过 MRI 对具有上述特征的脑白质病进行诊断主要依赖于临床和遗传学分析。针对可治疗性脑白质病的鉴别诊断越来越重要。
