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背景:线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MELAS)是线粒体脑肌病中最常见的一种临床类型,多种线粒体基因突变均可导致MELAS。目的:探讨1例MELAS患者的临床表现和线粒体基因突变的关系。设计:临床、病理和基因分析对照研究。地点和对象:实验在解放军济南军区总医院神经内科病房、神经病理实验室和神经分子生物学实验室进行。患者,男,13岁,因发作性头痛、呕吐,肢体抽搐1个月于2001-06-04入院,入院后逐渐出现失明和智能减退。血乳酸和丙酮酸水平升高,临床诊断MELAS。干预:对患者行头颅MRI检查、脑活检病理检查和线粒体基因分析。主要观察指标:临床表现特点、MRI病变特征、脑组织病理改变特点以及线粒体基因突变类型。结果:患者不存在能引起MELAS的较常见的突变,但在线粒体3314～3589之间有276bp的碱基缺失。结论:线粒体DNA3314～3589位点之间276bp的碱基缺失可能是能够导致MELAS的一种新的基因突变类型,也是导致患者出现失明、癫痫和痴呆的原因。
BACKGROUND: Mitochondrial encephalomyopathy with hyperlipidemia and stroke-like seizures syndrome (MELAS) is one of the most common clinical forms of mitochondrial encephalomyopathy and a variety of mitochondrial gene mutations lead to MELAS. Objective: To investigate the relationship between clinical manifestations and mitochondrial DNA gene mutations in one case of MELAS. Design: Clinical, Pathological and Genetic Analysis Controlled Study. Location and Subject: The experiment was performed in the Neurology Ward, Neuropathological Laboratory and Neurobiology Laboratory of Jinan Military Region General Hospital. The patient, male, aged 13, was admitted to hospital on 2001-06-04 due to episodic headache, vomiting, and limb twitching. Blindness and diminished intelligence gradually developed after admission. Blood lactate and pyruvate levels increased, the clinical diagnosis of MELAS. Interventions: Head MRI examination of patients, pathological examination of brain biopsy and mitochondrial gene analysis. MAIN OUTCOME MEASURES: Clinical features, MRI features, histopathological changes and types of mitochondrial DNA mutations. RESULTS: There were no more common mutations in MELAS, but there was a 276 bp base deletion between mitochondria 3314-3589. CONCLUSION: A 276bp base deletion between mitochondrial DNA sites 3314-3589 may be a new type of gene mutation that can cause MELAS, which is also responsible for patients’ blindness, epilepsy and dementia.