Okumura Akihisa, Arai Eisuke, Kitamura Yuri, Abe Shinpei, Ikeno Mitsuru, Fujimaki Takuro, Yamamoto Toshiyuki, Shimizu Toshiaki
Department of Pediatrics, Aichi Medical University, Japan; Department of Pediatrics, Juntendo University, Faculty of Medicine, Japan.
Department of Ophthalmology, Juntendo University, Faculty of Medicine, Japan.
Brain Dev. 2015 Nov;37(10):978-82. doi: 10.1016/j.braindev.2015.04.004. Epub 2015 May 2.
Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.
诺里病是一种X连锁隐性疾病，其特征为先天性失明。尽管在一些诺里病患者中观察到癫痫发作，但对此现象了解甚少。在此，我们报告诺里病患者兄弟姐妹中癫痫的表现，以增加我们对这种情况下癫痫的认识。三名患有先天性失明的兄弟在基因分析显示NDP基因第2外显子缺失后被诊断为诺里病。大哥从11岁起就患有癫痫发作，且他的癫痫发作对抗癫痫药物耐药。尽管二哥没有癫痫发作，但最小的弟弟从8岁起就经历过癫痫发作。他的癫痫发作通过拉莫三嗪和左乙拉西坦得到控制。脑电图（EEG）显示所有三名兄弟枕叶均有癫痫样放电。对这些患者的研究将增加我们对诺里病患者癫痫的认识。
