目的

探讨线粒体 DNA 缺失所致线粒体脑肌病(ME)的临床诊断学特征。

方法

回顾性分析湖南省脑科医院2018 年8 月收治的1 例因线粒体DNA 多重缺失所致脑白质病变患者的诊疗过程,检索相关文献,总结其临床表现、影像特点及基因突变情况。

结果

本例患者表现反复头痛、抽搐等症状,2015 至2018 年,多次头颅MRI 示多发皮质下脑白质病变,且部位变化,并在一段时间内完全恢复。 骨骼肌细胞核基因及线粒体基因组检测,发现3 种线粒体DNA 缺失位点,分别为m.5786_13923,m.7851_13614,m.8166_15656,诊断为线粒体DNA 多重缺失引起的ME。

结论

痫性发作可为ME 早期症状,皮层或白质出现各个部位病变时,需考虑ME 可能。对疑似患者应及时行血或肌肉基因检测等检查,以减少漏诊、误诊。

Objective

To investigate the clinical diagnostic features of mitochondrial encephalomyopathy(ME) caused by deletions in mitochondrial DNA(mtDNA).

Methods

The 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.

Results

The 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.

Conclusions

Seizures 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.