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首页> 外文期刊>Journal of Clinical Medicine Research >Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction
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Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction

机译：区分线粒体脑病与老年人中风发作与脑梗死之间的重要性

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The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed. Considering this background, MELAS with the onset of stroke-like episodes should be considered an important differential diagnosis for elderly patients with cerebral infarction, although it might have been overlooked until now. A 68-year-old Japanese female developed convulsive seizures and was admitted to Hospital of International University of Health and Welfare for epilepsy. She had been hospitalized twice in the previous year for cerebral infarction and seizures. She experienced sensorineural hearing loss at a young age. Thus, although she was elderly, we suspected MELAS and detected elevations of pyruvic and lactic acid. A genetic test revealed a point mutation in the mtDNA (m.3243A>G) that led to a definitive diagnosis of MELAS. To date, MELAS has been regarded as a disease of the relatively young. The incidence of patients with cerebral infarction and diabetes mellitus is expected to greatly increase. Thus, we should evaluate cerebral infarction in the elderly with caution to prevent missed diagnoses of MELAS.J Clin Med Res. 2017;9(9):812-819doi: https://doi.org/10.14740/jocmr3122w
机译：在患有乳酸性酸中毒和中风样发作（MELAS）的线粒体脑病（ME）中，最常见的引起线粒体DNA（mtDNA）突变的基因是m.3243A> G。将来，预计脑梗塞和糖尿病患者的发病率将大大增加。此外，估计所有糖尿病患者中约有2％存在典型的糖尿病A3243G突变，这表明患有线粒体疾病的潜在疾病人群比以前认为的要多，而且老年人中可能有很多病例被误诊了。考虑到这一背景，尽管中风至今仍被人们所忽视，但具有中风样发作的MELAS仍被认为是老年脑梗死患者的重要鉴别诊断。一名68岁的日本女性出现惊厥性癫痫发作，并被国际卫生与福利大学医院收治为癫痫病。去年，她因脑梗塞和癫痫发作住院了两次。她在年轻时经历了感音神经性听力丧失。因此，尽管她很老，但我们怀疑是MELAS并发现丙酮酸和乳酸升高。一项基因检测显示，mtDNA中存在点突变（m.3243A> G），可以对MELAS进行明确诊断。迄今为止，MELAS被认为是相对年轻的疾病。预计脑梗塞和糖尿病患者的发病率将大大增加。因此，我们应谨慎评估老年人的脑梗死，以防止漏诊诊断MELAS。 2017; 9（9）：812-819doi：https://doi.org/10.14740/jocmr3122w

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