Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association
Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association
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DOI：
10.1177/197140091102400206
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发表时间：
2011-04-01
影响因子：
1.2
通讯作者：
Castillo, M.
中科院分区：
文献类型：
--
作者：
Vidal, A.;Castillo, M.
A3243 G突变与几种线粒体疾病相关，MELAS综合征是最常见的。多小脑回是一组广泛的由于皮质组织异常而引起的皮质发育畸形。MELAS/A3243 G突变和多小脑回症之间的关联是非常罕见的;在18年的关于A3243 G突变和相关疾病的研究中，只有一例报告。我们描述了一名女性患者证实MELAS/A3243 G突变，发育迟缓和轻度左侧轻偏瘫，其中MRI显示广泛的双侧多微脑回。这两种疾病的协会和他们可能的关系进行了讨论。
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.