Rieger Deborah, Auerbach Sarah, Robinson Paul, Gropman Andrea
Department of Pediatrics, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, District of Columbia, USA.
Dev Disabil Res Rev. 2013;17(3):269-82. doi: 10.1002/ddrr.1120.
Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function. In addition to primary lipid storage diseases, lysosomal storage diseases include the mucolipidoses (in which excessive amounts of lipids and carbohydrates are stored in the cells and tissues) and the mucopolysaccharidoses (in which abnormal glycosylated proteins cannot be broken down because of enzyme deficiency). Neurological dysfunction can be a manifestation of these conditions due to substrate deposition as well. This review will explore the modalities of neuroimaging that may have particular relevance to the study of the lipid storage disorder and their impact on elucidating aspects of brain function. First, the techniques will be reviewed. Next, the neuropathology of a few selected lipid storage disorders will be reviewed and the use of neuroimaging to define disease characteristics discussed in further detail. Examples of studies using these techniques will be discussed in the text.
脂质贮积病，也称为脂代谢障碍，是一组遗传性代谢紊乱疾病，由于多种酶的缺乏，各种细胞类型（包括中枢神经系统）中会出现脂质蓄积。随着时间的推移，过量贮积会导致永久性细胞和组织损伤。大脑对脂质贮积特别敏感，因为中枢神经系统的内容物必须占据均匀的体积，任何液体或沉积物的增加都会导致压力变化并干扰正常神经功能。除了原发性脂质贮积病外，溶酶体贮积病还包括粘脂贮积病（细胞和组织中贮存过量脂质和碳水化合物）和粘多糖贮积病（由于酶缺乏，异常糖基化蛋白无法分解）。神经功能障碍也可能是这些疾病由于底物沉积而产生的一种表现。本综述将探讨可能与脂质贮积病研究特别相关的神经影像学方法及其对阐明脑功能方面的影响。首先，将对这些技术进行综述。接下来，将综述一些选定的脂质贮积病的神经病理学，并更详细地讨论使用神经影像学来定义疾病特征。文中将讨论使用这些技术的研究实例。
