Hung Pi-Lien, Huang Li-Tung, Kwan Shang-Yeong, Chang Kai-Ping, Chen Hsin-Hung, Lee Yi-Yen, Fan Hueng-Chuen, Chen Chien
Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung.
Department of Neurology, Taipei Veterans General Hospital and Department of Neurology, School of Medicine, National Yang-Ming University, Taipei.
Epileptic Disord. 2017 Mar 1;19(1):76-81. doi: 10.1684/epd.2017.0899.
We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack. The ictal vomiting ceased following management with oxcarbazepine, high-dose phenobarbital, and a ketogenic diet. The unique seizure type and rare ictal EEG findings are the first reported in a child with chromosome 22q11.2 deletion syndrome. This case highlights that ictus emeticus without detectable epileptic discharge on EEG is one potential epileptic presentation in this genetic syndrome. [Published with video sequence on www.epilepticdisorders.com].
我们报告了一例患有22q11.2染色体缺失综合征且伴有呕吐性癫痫发作的患者的病例研究，并对相关文献进行了综述。该患者3个月大时出现全身性强直阵挛发作，经钙剂治疗后癫痫发作最终缓解。随后，他在睡眠中出现剧烈呕吐，伴有眼神呆滞和腿部屈曲。视频脑电图记录显示，背景活动从正常睡眠时的有组织反应性转变为左侧颞叶δ活动，在呕吐发作期间双侧同步。使用奥卡西平、高剂量苯巴比妥和生酮饮食治疗后，发作性呕吐停止。这种独特的癫痫发作类型和罕见的发作期脑电图表现首次在一名患有22q11.2染色体缺失综合征的儿童中报道。该病例突出表明，脑电图上无可检测到的癫痫放电的呕吐性癫痫是这种遗传综合征中一种潜在的癫痫表现形式。[本文配有视频序列，发表于www.epilepticdisorders.com]
