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An analysis of the clinical and imaging features of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Somatosensory & Motor Research ( IF 0.9 ) Pub Date : 2020-01-30 , DOI: 10.1080/08990220.2020.1720636
Hao Chen 1 , Qian Hu 1 , Hafiz Khuram Raza 1, 2 , Thitsavanh Chansysouphanthong 2 , Sandeep Singh 2 , Pabitra Rai 2 , Guiyun Cui 1 , Zuohui Zhang 1 , Xinchun Ye 1 , Chuanying Xu 1 , Yonghai Liu 1 , Haiyang Jiang 3
Affiliation  

Objective: To investigate the clinical features and imaging characteristics of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Seventeen patients with MELAS diagnosed in the Affiliated Hospital of Xuzhou Medical University from July 2014 to August 2018 were enrolled in this study and their clinical manifestations, imaging and histopathological features were retrospectively analysed. We also discussed and summarised the related literature.Results: All of the 12 patients had seizures; stroke-like episodes in 12 cases; audio-visual impairment in 12 cases; headache in six cases; dysplasia in four cases; mental retardation in three cases; ataxia in two cases. On cranial magnetic resonance (MR) scans, the most common manifestations were in temporal-occipital-parietal lobe, cortical or subcortical areas as well as frontal lobe, thalamus, and basal ganglia showing long or equal T1 signals, long T2 signals, and hyperintense or iso-intense diffusion-weighted imaging (DWI) signals accompanied by ventricular enlargement and brain atrophy. MR spectroscopy showed that lactic acid peaks could be found in lesion sites, normal brain tissues, and cerebrospinal fluid. Muscle biopsy and genetic testing are the gold standard for diagnosing MELAS, muscle biopsy revealed COX-negative muscle fibres and SDH-stained red ragged fibres (RRF) under the sarcolemma. Mutations of mtDNA A3243G locus were common on gene testing. Improvement of mitochondrial function was observed after symptomatic and supportive treatment.Conclusion: MELAS should be considered for patients with epileptic seizures, headache, stroke-like episodes, extraocular palsy, cognitive decline and other clinical manifestations with the lesion located in the temporal-occipital-parietal lobe regardless of the distribution of blood vessels, and further examinations including muscle biopsy and gene testing should be performed to confirm the diagnosis.

中文翻译:

线粒体脑病、乳酸性酸中毒和中风样发作 (MELAS) 的临床和影像学特征分析。

目的:探讨线粒体脑病、乳酸性酸中毒和卒中样发作(MELAS)的临床特征和影像学特点。方法:2014年7月至2018年8月徐州医科大学附属医院确诊的17例MELAS患者。本研究及其临床表现、影像学和组织病理学特征进行了回顾性分析。我们还对相关文献进行了讨论和总结。结果:12例患者均出现癫痫发作;卒中样发作12例;视听障碍12例;头痛六例;四例发育不良;三种情况下智力低下;共济失调分两种情况。在头颅磁共振 (MR) 扫描中,最常见的表现是颞-枕-顶叶,皮质或皮质下区域以及额叶、丘脑和基底神经节显示长或相等的 T1 信号、长 T2 信号和高强度或等强度弥散加权成像 (DWI) 信号,伴有心室扩大和脑萎缩。磁共振波谱显示在病变部位、正常脑组织和脑脊液中可以发现乳酸峰。肌肉活检和基因检测是诊断 MELAS 的金标准,肌肉活检显示 COX 阴性肌纤维和 SDH 染色的肌膜下红色参差不齐的纤维 (RRF)。mtDNA A3243G 基因座的突变在基因检测中很常见。对症支持治疗后线粒体功能改善。结论:癫痫发作、头痛、脑卒中样发作、
更新日期:2020-04-23
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