Neuroimaging of lipid storage disorders

摘要: Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation various cell types, including central nervous system, because deficiency variety enzymes. Over time, excessive can cause permanent cellular and tissue damage. The brain particularly sensitive to contents system must occupy uniform volume, any increases fluids or deposits will lead pressure changes interference with normal neurological function. In addition primary lysosomal diseases include mucolipidoses (in amounts lipids carbohydrates stored cells tissues) mucopolysaccharidoses abnormal glycosylated proteins cannot be broken down enzyme deficiency). Neurological dysfunction manifestation these conditions due substrate deposition well. This review explore modalities neuroimaging that may have particular relevance study disorder their impact on elucidating aspects First, techniques reviewed. Next, neuropathology few selected reviewed use define disease characteristics discussed further detail. Examples studies using text.