Ng Yi Shiau, van Ruiten Henriette, Lai H Ming, Scott Rebecca, Ramesh Venkateswaran, Horridge Karen, Taylor Robert W, Turnbull Doug M, Gorman Gráinne S, McFarland Robert, Baker Mark R
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle United Kingdom.
Department of Paediatric Neurology Royal Victoria Infirmary Newcastle upon Tyne United Kingdom.
Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar.
Focal status epilepticus in -related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr mutation, the most common pathogenic variant identified in the Caucasian population. We applied transcranial direct current stimulation (tDCS; 2 mA; 20 min) daily as an adjunctive therapy because her focal seizures failed to respond to five antiepileptic drugs at maximal doses. The electrical and clinical seizures stopped after 3 days of tDCS. The second course of tDCS was administered for 14 days when the focal seizures re-emerged a month later. The patient tolerated the procedure well. Following 4 months of hospitalization and prolonged community rehabilitation, our patient has now returned to full-time education with support, and there is no report of cognitive deficit. We have demonstrated the safety and efficacy of tDCS in treating refractory focal motor seizures caused by mitochondrial disease.
与线粒体疾病相关的局灶性癫痫持续状态对包括全身麻醉在内的药物治疗具有高度耐药性。我们报告了一名既往健康的青少年患者的治疗挑战，该患者出现了由纯合子p.Ala467Thr突变导致的新发部分性癫痫持续状态和代谢性中风，这是在白种人群中发现的最常见的致病变异。由于她的局灶性癫痫发作对五种最大剂量的抗癫痫药物均无反应，我们每天应用经颅直流电刺激（tDCS；2 mA；20分钟）作为辅助治疗。tDCS治疗3天后，电发作和临床发作停止。一个月后局灶性癫痫发作再次出现时，进行了第二个疗程的tDCS治疗，为期14天。患者对该治疗耐受良好。经过4个月的住院治疗和长期的社区康复，我们的患者现在在支持下已恢复全日制教育，且没有认知缺陷的报告。我们已经证明了tDCS在治疗线粒体疾病引起的难治性局灶性运动性癫痫发作方面的安全性和有效性。
