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线粒体脑肌病是主要累及中枢神经系统和骨骼肌且具有遗传异质性的一组疾病。诊断主要根据肌肉的组织病理学检查、极谱法和分光光度计研究以及线粒体或核DNA基因突变分析。常规T_2加权(T_2W)磁共振成像(MRI)可见不按血管分布的灰质和皮层下白质高信号,白质损害可能与小血管缺血和脱髓鞘有关。作者对1例经活检证实为线粒体脑肌病的患者进行磁共振弥散加权成像、弥散张量成像和质子磁共振波谱(MRS)检查。结果表明弥散加权
Mitochondrial encephalomyopathy is a group of diseases that mainly involve the central nervous system and skeletal muscle and have genetic heterogeneity. Diagnosis is based primarily on muscle histopathology, polarographic and spectrophotometric studies, and analysis of mitochondrial or nuclear DNA mutations. Routine T 2 -weighted (T 2 W) magnetic resonance imaging (MRI) shows that the gray matter and cortical white matter hyperintensities are not distributed according to the blood vessels. The white matter damage may be related to ischemia and demyelination of small blood vessels. The authors performed MRI diffusion-weighted imaging, diffusion tensor imaging, and proton magnetic resonance spectroscopy (MRS) in one of the patients confirmed by biopsy as mitochondrial encephalomyopathy. The results show diffuse weighting