Clinical, pathological and dynamic imaging findings of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Abstract

Objective To investigate the clinical, pathological and dynamic imaging characteristics of patients with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes (MELAS). Methods A retrospective analysis was performed on the clinical,pathological and dynamic imaging data of 10 patients with MELAS confirmed by muscle biopsy. Results The clinical manifestations included headache,seizures,nausea,vomiting,nystagrnus and visual disturbances.CT showed less lesions,and MRI could clearly show multiple lesions which mainly located in the temporal,parietal,occipital cortex and sub-cortex,having multifocal,asymmetric,migratory characterstics and not following the distribution of blood vessels.MRA showed no significant stenosis,and the lesion showed hyperperfusion and vasogenic edema,and Lae peak was visible.Muscle biopsy showed ragged red fiber optical microscope (RRF) and strongly SDH-reactive vessel (SSV),and electron microscope showed increased mitochondria number, and abnormal size and shape. Conclusion MELAS has certain clinical and imaging characteristics; by combining the muscle biopsy,we can diagnose the disease early and make differential diagnosis. Key words: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode; Imaging; Pathological feature