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线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)综合征酷似单纯疱疹病毒性脑炎:一例报告。

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report.

作者信息

Zeng Wen-Gao, Liao Wan-Min, Hu Jue, Chen Su-Fen, Wang Zhen

机构信息

Department of Neurology, Changsha Central Hospital, Yuhua District, Changsha, China.

Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Avenue, Wuhan, 430030, China.

出版信息

Radiol Case Rep. 2022 May 8;17(7):2428-2431. doi: 10.1016/j.radcr.2022.04.019. eCollection 2022 Jul.

Abstract

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports. Our case describes a 17-year-old female with no significant previous medical history presenting with an acute onset of fever, headache, and epilepsy, similar to HSE. Computed tomography of the brain showed bilateral basal ganglia calcification. Magnetic resonance imaging demonstrated gyriform restricted diffusion with T2-weighted images prolongation. Further investigation showed elevated blood lactate concentration at rest. Hence, MELAS was suspected and the diagnosis was confirmed by the presence of a nucleotide 3243 A→G mutation in the mitochondrial DNA. The clinical presentation and imaging studies of MELAS are variable and may mimic those of HSE. Infection may have also precipitated MELAS manifestation in this patient. Laboratory features, such as elevated lactate, basal ganglia calcification, and gyriform restricted diffusion may be helpful in identifying patients with MELAS.

摘要

线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)综合征具有单纯疱疹性脑炎(HSE)的特征,这种情况较为罕见,仅有少数病例报告对此进行过描述。我们的病例是一名17岁女性,既往无重大病史,急性起病,出现发热、头痛和癫痫症状,与HSE相似。脑部计算机断层扫描显示双侧基底节钙化。磁共振成像显示脑回样扩散受限,T2加权图像延长。进一步检查显示静息时血乳酸浓度升高。因此,怀疑为MELAS,并通过线粒体DNA中3243A→G核苷酸突变的存在确诊。MELAS的临床表现和影像学研究具有多样性,可能与HSE相似。感染也可能促使该患者出现MELAS表现。实验室检查特征,如乳酸升高、基底节钙化和脑回样扩散受限,可能有助于识别MELAS患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1bbb/9118100/699ebc486585/gr1.jpg

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