We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281.1(ARX_v001):c.1448 + 1 G > A, chrX: 25025227 C > T (GRCh37). To our knowledge, this mutation has not been reported previously.

我们报告了一名 7 岁男孩因Aristaless 相关同源框( ARX ) 基因的新突变引起的婴儿痉挛症。他从婴儿早期就在脑电图上显示出婴儿痉挛症和高度节律失常。脑部MRI除胼胝体轻度发育不全外，未发现脑部严重畸形。两次促肾上腺皮质激素（ACTH）治疗未能控制癫痫发作，因每日出现顽固性强直阵挛性癫痫发作，需要生酮饮食治疗和多种抗癫痫药物治疗。外显子组测序鉴定出ARX基因中的半合子突变，NG_008281.1(ARX_v001):c.1448 + 1 G > A，chrX：25025227 C > T (GRCh37)。据我们所知，这种突变以前没有报道过。