摘要： 儿童线粒体病最常累及中枢神经系统，CT、MRI和磁共振波谱（MRS）等影像学检查常可见基底节区病变、白质脑病、脑卒中样改变、小脑或大脑萎缩、钙化和乳酸峰等特征性改变；此外，部分或某些临床少见的线粒体综合征也具有典型的神经影像学改变，对于疾病的诊断与鉴别诊断、理解中枢神经系统受累的病理生理学机制等具有重要提示意义。本文从线粒体病常见的神经影像学改变、部分线粒体综合征的神经影像学特征等角度进行阐述，从神经影像学角度助力线粒体病的早期诊断与治疗。

关键词: 线粒体疾病, 磁共振成像, 儿童, 综述

Abstract: Mitochondrial disease (MD) in children most often involve the central nervous system. CT, MRI and magnetic resonance spectroscopy (MRS) often show basal ganglia lesions, white matter encephalopathy, stroke-like changes, cerebellum or brain atrophy, calcification, lactic acid (Lac) peak and other characteristic imaging changes. Some clinically rare mitochondrial syndrome also have typical neuroimaging changes, which have important implications for the diagnosis and antidiastole of diseases and understanding of the pathophysiological mechanism of central nervous system involvement. In this study, common neuroimaging changes of MD and the neuroimaging characteristics of some mitochondrial syndrome were described to help the early diagnosis and treatment of MD from the perspective of neuroimaging.

Key words: Mitochondrial diseases, Magnetic resonance imaging, Child, Review