PDF(Pubmed)
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,乳酸性酸中毒,和中风样发作（MELAS）综合征表现为单纯疱疹性脑炎（HSE）的特征，这是罕见的，仅在少数病例报告中进行了描述。我们的病例描述了一名17岁的女性，没有明显的既往病史，表现为急性发烧。头痛,癫痫,类似于HSE。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，随着T2加权图像的延长，回旋状扩散受限。进一步的研究显示在休息时血乳酸浓度升高。因此，怀疑MELAS，并通过线粒体DNA中核苷酸3243A→G突变的存在证实了诊断。MELAS的临床表现和影像学研究是可变的，可以模仿HSE。感染也可能在该患者中沉淀MELAS表现。实验室特点,如乳酸升高，基底节钙化,和回旋型限制扩散可能有助于识别MELAS患者。
