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(年龄10个月到14岁)的MRI表现.方法20例由肌肉活检及实验室检查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T1WI低、T2WI高信号,8例有不同程度的脑萎缩.18例患儿主要为灰质受累,其中10例为只有深部灰质病变;4例为深部灰质和大脑皮质同时受累.4例为深部灰质病变合并脑梗塞而同时累及灰质和白质.2例主要为白质受累,表现侧脑室后角旁白质异常信号.结论儿童线粒体脑肌病的MRI表现是多样性的.当儿童脑MRI表现为灰质(尤其是深部灰质)异常信号、灰质萎缩、不典型梗塞、不典型白质病变且合并临床难以解释的神经、肌肉等多系统的症状时,应考虑到线粒体肌病的可能.

Mitochondrial Encephalomyopathy in Children:MRI Appearances

Objective To study MR findings in 20 children aged from 10 months to 14 years with mitochondrial encephalomyopathy.Methods MRI evaluations were done in 20 children with mitochondrial encephalomyopathy proved by muscle biopsy and biochemical laboratory examinations.Results Brain parenchymal lesions in all cases were low signal intensity on T 1-weighted and high signal intensity on T 2-weighted images.Brain atrophy was showed in different degrees in 8 children.18 patients had involvement of gray matter,10 had only the deep gray matter involved and 4 cases had both the deep gray matter and the cerebral cortex involved simultaneously.4 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 MRI findings in mitochondrial encephalomyopathy are varied when gray matter especially deep gray matter involved,brain atrophy,untypical infarction and involvement of peripheral white matter are showed on MR,and associated with a variety of neuromuscular symptoms in children mitochondrial encephalomyopathy should be consider.