Vidal A, Castillo M
Department of Radiology, Hernán Henríquez Aravena Hospital; Temuco, IX Región, Chile -
Neuroradiol J. 2011 May 15;24(2):199-201. doi: 10.1177/197140091102400206. Epub 2011 May 11.
A3243G mutation is associated with several mitochondrial disorders, MELAS syndrome being the most common. Polymicrogyrias constitute an extensive group of malformations of cortical development due to abnormal cortical organization. The association between MELAS/A3243G mutation and polymicrogyria is extremely rare; in 18 years of investigation regarding A3243G mutation and related disorders only one case has been reported. We describe a female patient with proven MELAS/A3243G mutation, developmental delay and mild left hemiparesis in whom MRI showed extensive bilateral polymicrogyria. The association of these two disorders and their possible relation are discussed.
A3243G突变与多种线粒体疾病相关，其中最常见的是线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征。多小脑回是由于皮质组织异常导致的一大类皮质发育畸形。MELAS/A3243G突变与多小脑回之间的关联极为罕见；在对A3243G突变及相关疾病进行的18年研究中，仅报告过1例。我们描述了1例经证实存在MELAS/A3243G突变、发育迟缓且有轻度左侧偏瘫的女性患者，其MRI显示双侧广泛存在多小脑回。本文对这两种疾病的关联及其可能的关系进行了讨论。
