Jian-Ren Liu
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, China.
Neurol India. 2005 Sep;53(3):323-5. doi: 10.4103/0028-3886.16932.
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesions that did not conform to accepted distributions of vascular territories on cranial magnetic resonance imaging (MRI), normal result of cranial magnetic resonance angiography, hyperintensity on diffusion weighted MRI and apparent diffusion coefficient mapping indicating the presence of vasogenic edema in the fresh stroke-like lesion, and mitochondrial DNA analysis helped to exclude the diagnosis of ischemic cerebral infarction which can also be induced by chickenpox.
线粒体肌病、脑病、乳酸酸中毒和卒中样发作综合征(MELAS)是一种罕见的线粒体DNA(mtDNA)先天性疾病。在此,我们报告一例MELAS病例,其第二次卒中样发作由水痘诱发。mtDNA中核苷酸(nt)3243处的点突变支持了该病例中MELAS的诊断。肌病史、头颅磁共振成像(MRI)上不符合公认血管区域分布的病变、头颅磁共振血管造影结果正常、弥散加权MRI上的高信号以及表观扩散系数图表明新鲜卒中样病变中存在血管源性水肿,以及线粒体DNA分析有助于排除也可由水痘诱发的缺血性脑梗死的诊断。