Diffusion-weighted MR imaging in leukodystrophies

摘要: Leukodystrophies are genetically determined metabolic diseases, in which the underlying biochemical abnormality interferes with normal build-up and/or maintenance of myelin, leads to hypo- (or arrested) myelination, or dysmyelination resultant demyelination. Although conventional magnetic resonance imaging has significantly contributed recent progress diagnostic work-up these diffusion-weighted potential further improve our understanding pathological processes and their dynamics through assessment abnormal diffusion properties cerebral white matter. Evaluation ADC map images allows detection major abnormalities identification various edema types, so-called myelin is particularly relevant leukodystrophies. Depending on nature histopathological changes, stage progression gradient patterns may be seen Absent low-grade found mucopolysaccharidoses, GM gangliosidoses, Zellweger disease, adrenomyeloneuropathy, L-2-hydroxyglutaric aciduria, non-ketotic hyperglycinemia, classical phenylketonuria, Van der Knaap disease vanishing matter, medium grade metachromatic leukodystrophy, X-linked adrenoleukodystrophy HMG coenzyme lyase deficiency high Krabbe Canavan hyperhomocystinemias, maple syrup urine leukodystrophy brainstem spinal cord involvement lactate.