儿童线粒体脑肌病的MRI表现

目的:回顾性研究20例线粒体脑肌病患儿的MRI表现.方法:20例证实为线粒体脑肌病的患儿,脑内均有MRI阳性表现,研究其MRI表现的类型,结果:20例患儿脑内病灶均表现为T1低,T2高信号,8例有不同程度的脑萎缩,18例主要为灰质受累,其中4例同时螺及灰质和白质,2例主要为白质受累,结论:儿童线粒体脑肌病的MRI表现是多样性的,当MRI表现为灰质异常信号,脑萎缩,不典型梗塞或白质病变且合并临床难以解释的多系统症状时,应考虑到该病的可能.

Mitochondrial Encephalomyopathy in Children: MRI Appearance

Objective We retrospectively studied 20 children with mitochondrial encephalomyopathy whose MRI examinations demonstrated abnormalities. Methods MRI evaluations were done in 20 children with confirmed mitochondrial encephalomyopathy proved by muscle biopsy and biochemical laboratory examinations. Results Different patterns of brain parenchymal lesions were demonstrated, all lesions gave low signal on T1 weighted and high signal on T2 weighted images, in addition to brain atrophy of different degrees in 8 children. 18 patients had involvement of gray matter, 4 of the patients showed deep gray matter abnormalities and cerebral infarction with involvement of cortex and subcortical white matter. 2 patients had exclusively involvement of white matter, which were nonspecific white matter changes of the trigonal area. Conclusion Mitochondrial encephalomyopathy has a wide range of MRI findings. Although no one set of findings is diagnostic of the disease, the combination of gray matter especially deep gray matter involvement, brain atrophy, untypical infarction and involvement of peripheral white matter should suggest the diagnosis, especially when associated with a variety of neuromuscular symptoms. [