Shinde A, Nakano S, Taguchi Y, Kagawa D, Akiguchi I
Department of Internal Medicine, Shimada Municipal Hospital.
Rinsho Shinkeigaku. 2000 Jun;40(6):561-5.
A patient of MELAS is reported. A 28-year-old woman was admitted to Shimada Municipal Hospital because of nausea, vomiting, and right homonymous hemianopsia. She had past history of dizziness and convulsion. A brain magnetic resonance imaging showed an ischemic lesion in the left occipital lobe, which disappeared in the follow-up study. Laboratory examination indicated elevated lactate and pyruvate levels in both blood and cerebrospinal fluid. The muscle biopsy demonstrated ragged-red fibers and strongly SDH-reactive blood vessels. PCR-RFLP analysis of DNA extracted from her muscle and blood as well as her mother's blood revealed a T to C mutation at nucleophile position of 3271 in mitochondrial DNA. She was diagnosed as having MELAS and discharged. One year after the first admission, she re-visited our hospital because of three days' duration of fatigability and generalized muscle pain after alcohol intake. She had severe lactic acidosis, rhabdomyolysis and acute renal failure. Despite a continuous hemodialysis and other intensive efforts, the patient died 20 hours later. Alcohol intake has been reported to induce rhabdomyolysis in myopathy with mitochondrial DNA deletions. The course of this patient suggests that alcohol intake can be an aggravating factor also in MELAS.
报告了1例线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患者。一名28岁女性因恶心、呕吐及右侧同向性偏盲入住岛田市立医院。她既往有头晕和惊厥病史。脑部磁共振成像显示左枕叶有缺血性病变，该病变在随访研究中消失。实验室检查表明血液和脑脊液中的乳酸和丙酮酸水平升高。肌肉活检显示有破碎红纤维和琥珀酸脱氢酶（SDH）强反应性血管。对从她的肌肉、血液以及她母亲的血液中提取的DNA进行聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析，发现在线粒体DNA的3271位亲核位置存在T到C突变。她被诊断为患有MELAS并出院。首次入院一年后，她因饮酒后出现3天的疲劳和全身肌肉疼痛再次就诊于我院。她出现了严重的乳酸酸中毒、横纹肌溶解和急性肾衰竭。尽管进行了持续血液透析及其他积极治疗，患者在20小时后死亡。据报道，饮酒可在伴有线粒体DNA缺失的肌病中诱发横纹肌溶解。该患者的病程提示，饮酒在MELAS中也可能是一个加重因素。
