Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease
Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease
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DOI：
10.1212/01.wnl.0000049469.29011.e9
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发表时间：
2003-03-11
期刊：
影响因子：
9.9
通讯作者：
Hanefeld, F
中科院分区：
文献类型：
--
作者：
Brockmann, K;Dechent, P;Hanefeld, F
背景：Krabbe病(GLD)是一种常染色体隐性遗传性溶酶体病，影响中枢和外周神经系统。作者进行了磁共振波谱研究，以确定GLD患者体内脑组织的代谢变化及其区域差异。方法：对7例经生化证实的GLD患者，其中4例为婴儿型，2例为幼年型，1例为成人亚型，应用标准化脑区质子磁共振波谱定量分析其脑代谢产物浓度的异常。结果：在婴儿期GLD中，病变白质中肌醇和含胆碱化合物的显著升高反映了脱髓鞘和胶质细胞的增殖。伴随的N-乙酰天冬氨酸的降低表明神经轴突的丢失。灰质显示出类似的变化，尽管变化要温和得多。在幼年型GLD，MRS显示脑白质有星形细胞增多症和轻微的神经轴突损伤。在1例成人GLD患者中，病变脑白质的MRS结果接近正常。MRS资料与GLD的病理组织学特征一致。结论：质子磁共振波谱为无创评估GLD的代谢紊乱和脑损害程度提供了有力的工具。
Background: Krabbe disease (globoid cell leukodystrophy [GLD]) is an autosomal recessive lysosomal disorder affecting the central and peripheral nervous system. The authors performed MRS to characterize metabolic alterations and their regional variation in brain tissue in GLD in vivo. Methods: Abnormalities of cerebral metabolite concentrations were assessed in seven patients with biochemically proven GLD-four with infantile, two with juvenile, and one with adult subtype-using quantitative localized proton MRS of standardized brain regions. Results: In infantile GLD, pronounced elevation of both myo-inositol and choline-containing compounds in affected white matter reflected demyelination and glial proliferation. The accompanying decrease of N-acetylaspartate pointed to neuroaxonal loss. Gray matter showed similar, albeit much milder alterations. In juvenile GLD, MRS indicated astrocytosis with minor neuroaxonal damage in white matter. In a patient with adult GLD, results of MRS of affected white matter were close to normal. MRS data are in agreement with histopathologic features of GLD. Conclusions: Proton MRS provides a powerful tool for assessing metabolic disturbances and the extent of brain damage noninvasively in GLD.