RT期刊文章SR电子T1POLG1表现在童年摩根富林明神经学神经学乔FD Lippincott 首页Williams &威尔金斯SP 811 OP 815 10.1212 / WNL。0 b013e31820e7b25 VO 76 A1是9 p Isohanni A1 A.H. Hakonen A1 l .欧元A1 i Paetau A1 t Linnankivi A1大肠Liukkonen A1 t Wallden A1 l . Luostarinen A1 l . Valanne A1。Paetau A1 j .有所A1 t . Lonnqvist A1。Suomalainen A1 h . Pihko年2011 UL http://n.ne首页urology.org/content/76/9/811.abstract AB目的:线粒体DNA聚合酶γ(POLG1)突变的孩子常常表现为Alpers综合症,而在成人中,一个常见的表现是线粒体隐性共济失调综合征(米拉)和严重的癫痫。因为一些米拉已经出现共济失调或癫痫患者在童年,我们寻找POLG1突变在儿童的神经系统表现。方法:我们在136年调查POLG1孩子,所有临床怀疑患有线粒体疾病,与一个或多个以下:共济失调,轴突神经病变,严重的癫痫没有已知的癫痫综合征,癫痫性脑病,encephalohepatopathy或神经病理证实Alpers综合症。结果:7例POLG1突变,他们都患有难治性癫痫严重的脑病。暴露在丙戊酸钠钠后四个病人已经死了。脑部核磁共振成像显示parieto-occipital或丘脑hyperintense病变,白质异常和萎缩。肌肉组织学和线粒体生物化学的结果是正常的。 Conclusions: POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal. POLG1 analysis should precede valproate therapy in pediatric patients with a typical phenotype. However, POLG1 is not a common cause of isolated epilepsy or ataxia in childhood.