Shiraishi Hideaki, Egawa Kiyoshi, Ito Tomoshiro, Kawano Osamu, Asahina Naoko, Kohsaka Shinobu
Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Epilepsy Behav Case Rep. 2017 May 26;8:44-46. doi: 10.1016/j.ebcr.2017.05.004. eCollection 2017.
We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic-clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fragmented clonic seizures. The patient recovered his intellectual abilities and began to walk again with assistance. We suggest that PER be considered as one of the key drugs used to treat patients with DRPLA.
我们对一名患有齿状核红核苍白球路易体萎缩症（DRPLA）的13岁卧床男性患者给予了吡仑帕奈（PER）。DRPLA的诊断基于该基因中存在CAG三核苷酸重复序列。该患者经历持续性肌阵挛发作以及每周一次的全身强直阵挛发作（GTCs）。PER停止了患者的肌阵挛发作，并将GTCs减少为片段性阵挛发作。患者恢复了智力，并在辅助下重新开始行走。我们建议将PER视为治疗DRPLA患者的关键药物之一。
