Hu Su-Ching, Hung Kun-Long, Chen Hui-Ju, Lee Wang-Tso
Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan.
Department of Pediatrics, Fu-Jen Catholic University Hospital, New Taipei, Taiwan.
Epilepsy Behav Case Rep. 2018 Mar 12;10:32-34. doi: 10.1016/j.ebcr.2018.02.005. eCollection 2018.
A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of gene.
一名15岁男孩有3年的肌阵挛性癫痫发作史。他最初偶尔出现肌阵挛，逐渐发展为进行性共济失调、震颤、精神运动和言语退化。最终，他出现几乎持续的肌阵挛。他接受了丙戊酸钠、左乙拉西坦、氯巴占和苯巴比妥治疗，但无效。生酮饮食也被证明无效。开始使用4毫克/天的吡仑帕奈辅助治疗，并逐渐滴定至10毫克/天。在1个月内实现了肌阵挛性癫痫发作的缓解。在接下来的20个月里，患者的神经和认知功能有一定程度的改善。通过基因检测证实为唾液酸沉积症。
