Department of Neurology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
School of International Education, Xuzhou Medical University, Xuzhou, Jiangsu, China.
Somatosens Mot Res. 2020 Mar;37(1):45-49. doi: 10.1080/08990220.2020.1720636. Epub 2020 Jan 30.
To investigate the clinical features and imaging characteristics of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 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. 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. 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.
探讨线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）的临床特征和影像学特征。
回顾性分析 2014 年 7 月至 2018 年 8 月徐州医科大学附属医院收治的 17 例 MELAS 患者的临床表现、影像学和组织病理学特征，并对相关文献进行讨论和总结。
所有 12 例患者均有癫痫发作；12 例有卒中样发作；12 例有视听障碍；6 例有头痛；4 例有发育不良；3 例有智力障碍；2 例有共济失调。头颅磁共振成像（MRI）扫描最常见的表现为颞顶枕叶、皮质或皮质下区以及额叶、丘脑和基底节区呈长 T1 或等 T1 信号，长 T2 信号，弥散加权成像（DWI）高信号或等信号，伴脑室扩大和脑萎缩。磁共振波谱显示病变部位、正常脑组织和脑脊液中均可出现乳酸峰。肌肉活检和基因检测是诊断 MELAS 的金标准，肌肉活检显示细胞膜下 COX 阴性肌纤维和 SDH 染色红色杂乱纤维（RRF）。基因检测常见 mtDNA A3243G 位点突变。症状和支持治疗后观察到线粒体功能改善。对于有癫痫发作、头痛、卒中样发作、眼外肌麻痹、认知能力下降等临床表现且病变位于颞顶枕叶的患者，无论血管分布如何，均应考虑 MELAS，并进行肌肉活检和基因检测等进一步检查以明确诊断。
