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Diagnostic Considerations On Melas Syndrome

机译：Melas综合征的诊断注意事项

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MELAS syndrome is a mitochondrial disease which precise clinical features and complementary test useful to diagnosis are still controversial. It may mimic Herpes Simplex Encephalitis. Elevated lactic acid levels in blood, neuroimaging, EEG, muscle biopsy, and molecular genetics are helpful in the diagnosis but the absence of findings does not reject a MELAS syndrome such as it happens in the case reported. Introduction MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes) is a mitochondrial disease described by Pavlakis in 1984 and related to a mitochondrial DNA mutation. We regard that MELAS syndrome is still insufficiently known and are frequently misdiagnosed. The lack of standardized criteria poses difficulties in evaluating diagnostic methodologies. Some considerations in the matter are expounded in this article and previously we present a quite representative case. Case Report A 38-year-old right-handed man presented with fever, headache, confusion, partial seizures with secondary generalisation and a right parieto-temporal syndrome consisting on left hemiparesis with hypoesthesia, left homonymous hemianopia, prosopagnosia, topographical disorientation and sensorineural deafness of acute onset. Antiviral treatment with acyclovir was initially set. Hearing difficulty and familiar history of deafness and diabetes mellitus show up among his antecedents. Computed tomography revealed a low-density area, which did not correlate with the vascular supply, in the parietal lobe. Cerebrospinal fluid was normal. Brain Magnetic Resonance showed cortical and subcortical hyperintensities located unilaterally in the right parietal and temporo-occipital lobes and diffuse atrophy of the cerebellar cortex (Figures 1 and 2.). On an ictal record, high amplitude, rhythmic sharp waves were observed at right parieto-temporo-occipital region with a high amplitude slow waves background. Lactic acid in blood was not elevated. Muscle biopsy and neuropathological study with cytochrome-c oxidase (COX) and trichrome stain was normal. Mitochondrial DNA analysis detected an A3243G mutation. His mother, two sisters and a brother were also genetically studied and the mutation was detected in all of them but the proportion of A3243G mtDNA in blood was very variable (5-87%) being the mother initially informed as negative even.
机译：MELAS综合征是一种线粒体疾病，其确切的临床特征和对诊断有用的补充测试仍存在争议。它可能模仿单纯疱疹性脑炎。血液，神经影像学，脑电图，肌肉活检和分子遗传学中乳酸水平升高有助于诊断，但缺乏发现并不能拒绝MELAS综合征，例如在所报道的病例中。引言MELAS综合征（线粒体肌病，脑病，乳酸性酸中毒和中风样发作）是帕夫拉基斯（Pavlakis）于1984年描述的线粒体疾病，与线粒体DNA突变有关。我们认为，MELAS综合征尚不充分了解，并经常被误诊。缺乏标准化的标准给评估诊断方法带来了困难。本文阐述了有关此问题的一些考虑因素，并且先前我们提出了一个非常有代表性的案例。病例报告一名38岁的惯用右手男子出现发烧，头痛，精神错乱，部分发作并继发全身性疾病，并伴有左半身轻瘫，感觉不足，左同名偏盲，视力减退，地形障碍和感觉神经性耳聋急性发作。最初设定了用阿昔洛韦的抗病毒治疗。听力障碍和耳聋和糖尿病的熟悉病史出现在他的前辈中。计算机体层摄影术显示顶叶中的低密度区域与血管供应无关。脑脊液正常。脑磁共振显示皮质和皮质下高信号单侧位于右顶叶和颞枕叶和小脑皮质弥散性萎缩（图1和2）。在一张记录记录中，在右侧顶颞枕区域观察到高振幅，有节奏的尖锐波，并具有高振幅慢波背景。血液中的乳酸没有升高。用细胞色素c氧化酶（COX）和三色染色的肌肉活检和神经病理学研究正常。线粒体DNA分析检测到A3243G突变。他的母亲，两个姐妹和一个兄弟也都进行了基因研究，并且全部检测出该突变，但血液中A3243G mtDNA的比例变化很大（5-87％），母亲最初被告知甚至是阴性。

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