Abstract：ObjectiveTo investigate the clinical diagnostic features of mitochondrial encephalomyopathy（ME） caused by deletions in mitochondrial DNA（mtDNA）. MethodsThe diagnosis and treatment process of a patient with leukoencephalopathy caused by multiple deletions in mtDNA, admitted to Hunan Brain Hospital in August 2018 was retrospectively analyzed. Relevant literature was reviewed, and the patient′s clinical manifestations, imaging characteristics and gene mutation were summarized. ResultsThe patient in this case presented with recurrent headaches and seizures. From 2015 to 2018, multiple MRI scans of the brain indicated the presence of multifocal subcortical white matter lesions, with varying locations, and complete recovery occurred over a period of time. Genetic testing of skeletal muscle cell nuclei and mitochondrial genomes revealed three mtDNA deletion sites: m.5786_13923, m.7851_13614, and m.8616_15656. The diagnosis was that mtDNA multiple deletions lead to ME. ConclusionsSeizures can be a common clinical manifestation of ME. When multiple lesions are present in the cortex or white matter, ME should be considered. For suspected cases, timely blood or muscle gene testing should be conducted to reduce the risk of missed or misdiagnosed cases.
陈俊 涂鄂文 王照. 线粒体DNA多重缺失所致线粒体脑肌病的诊断学特征并文献复习[J]. 中华诊断学电子杂志, 2025, 13(1): 59-64.
Chen Jun, Tu E-wen, Wang Zhao.. Diagnostic characteristics of mitochondrial encephalomyopathy caused by multiple deletions of mitochondrial DNA and literature review. zhzdx, 2025, 13(1): 59-64.
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