Mitochondrial encephalomyopathy: six cases report and review of literature

Abstract

The clinical characteristics, imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed. Main clinical symptoms included stroke-like episodes, epileptic seizures, eye muscle involvement, blurred vision or cortical blindness, psychiatric symptoms and hypophrenia. Most patients were accompanied by exercise intolerance and elevated level of serum lactic acid. Multiple cortical or subcortical lesions, which were not in a vascular distribution, were found on MRI scans in 5 cases. Ragged red fibers were found in all patients by using biceps biopsy. The clinical characteristics of mitochondrial encephalomyopathy are complicated and variable. It can be diagnosed in terms of increased level of serum lactic acid, MRI scan and biceps biopsy.

doi: 10.3969/j.issn.1672-6731.2014.07.013