Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction.
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction.
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DOI：
10.14740/jocmr3122w
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发表时间：
2017-09
期刊：
影响因子：
--
通讯作者：
Kato H
中科院分区：
文献类型：
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作者：
Tetsuka S;Tagawa A;Ogawa T;Otsuka M;Hashimoto R;Kato H
伴有乳酸性酸中毒和中风样发作 (MELAS) 的线粒体脑肌病 (ME) 中最常见的致病线粒体 DNA (mtDNA) 突变是 m.3243A>G。未来，脑梗塞和糖尿病患者的发病率预计将大幅增加。此外，估计约2%的糖尿病患者存在糖尿病典型的A3243G突变，这表明线粒体疾病的潜在患病人群比之前想象的要多，而且老年人中可能有很多被误诊的病例。考虑到这一背景，MELAS伴中风样发作应被视为老年脑梗死患者的重要鉴别诊断，尽管迄今为止它可能被忽视。一名68岁日本女性出现抽搐，因癫痫入院国际保健福祉大学医院。去年她曾因脑梗塞和癫痫发作两次住院。她年轻时就经历了感音神经性听力损失。因此，尽管她年事已高，我们还是怀疑患有 MELAS，并检测到丙酮酸和乳酸升高。基因测试显示 mtDNA 中存在点突变 (m.3243A>G)，从而导致 MELAS 的明确诊断。迄今为止，MELAS 一直被认为是一种相对年轻的疾病。脑梗塞和糖尿病患者的发病率预计将大幅增加。因此，应谨慎评估老年人脑梗死，防止MELAS漏诊。
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.