Baba Shimpei, Sugawara Yuji, Moriyama Kengo, Inaji Motoki, Maehara Taketoshi, Yamamoto Toshiyuki, Morio Tomohiro
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Brain Dev. 2017 Apr;39(4):341-344. doi: 10.1016/j.braindev.2016.10.007. Epub 2016 Nov 4.
We report the case of on an 8-year-old girl with a cyclin-dependent kinase-like 5 mutation and who underwent vagus nerve stimulation (VNS) therapy for 2years. She had developed epilepsy at the age of 6months and had severe developmental delays. Initially, she had tonic and tonic-clonic seizures; however, around the age of 5years, she also developed epileptic spasms. These seizures were never completely controlled by conventional medical treatments. At the age of 7, after VNS initiation, her seizure frequency markedly reduced, and abnormal electrical activities on her electroencephalography tests strikingly decreased. Moreover, using questionnaires, we confirmed an improvement in her quality of life in the fields of alertness and activity. Although the efficacy of VNS therapy for patients with intractable epilepsy associated with a genetic anomaly has not been fully established, adjunctive VNS therapy may widen the scope of treatment choices available to these patients.
我们报告了一例8岁女孩的病例，她患有细胞周期蛋白依赖性激酶样5突变，接受迷走神经刺激（VNS）治疗2年。她在6个月大时患上癫痫，并有严重的发育迟缓。最初，她有强直和强直阵挛性发作；然而，在5岁左右，她还出现了癫痫性痉挛。这些发作从未被传统药物治疗完全控制。7岁时，开始进行VNS治疗后，她的癫痫发作频率显著降低，脑电图检查中的异常电活动明显减少。此外，通过问卷调查，我们证实她在警觉性和活动方面的生活质量有所改善。尽管VNS治疗对伴有基因异常的难治性癫痫患者的疗效尚未完全确立，但辅助性VNS治疗可能会扩大这些患者可用的治疗选择范围。
