Neuroimaging characteristics of mitochondrial disease in children

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.

doi：10.3969/j.issn.1672⁃6731.2022.12.015