Hu Lin-Yan, Shi Xiu-Yu, Feng Chen, Wang Jian-Wen, Yang Guan, Lammers Stephen H T, Yang Xiao Fan, Ebrahimi-Fakhari Darius, Zou Li-Ping
Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, China.
Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Eur J Paediatr Neurol. 2015 Mar;19(2):257-61. doi: 10.1016/j.ejpn.2014.12.012. Epub 2014 Dec 23.
To determine the etiology of epilepsy with continuous spikes and waves during slow sleep (CSWS)/electrical status epilepticus during sleep (ESES) in an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus.
MATERIAL & METHODS: A combination of clinical characterization and follow-up, video EEG and laboratory investigations.
We report the case of an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus, who presented with intellectual disability, pharmacotherapy-resistant epilepsy and CSWS/ESES. Although the patient's neuroblastoma had been successfully treated 8 years prior to presentation and an extensive workup did not show a tumor reoccurrence, testing for onconeuronal antibodies was positive for anti-Ma2 and anti-CV2/CRMP5 antibodies. High-dose intravenous methylprednisolone and a taper of oral methylprednisolone were given, leading to a significant clinical improvement. During the taper the patient's condition and EEG manifestations deteriorated again necessitating another cycle of steroid therapy, which lead to a stable improvement. During a 6-month follow-up no CSWS/ESES was seen on EEG and anti-Ma2 and anti-CV2/CRMP5 antibodies remained undetectable.
This case suggests that onconeuronal antibodies may be involved in the pathogenesis of CSWS/ESES.
确定一名患有神经母细胞瘤和眼阵挛-肌阵挛病史的8岁男孩慢波睡眠期持续棘慢波（CSWS）/睡眠期癫痫性电持续状态（ESES）癫痫的病因。
综合临床特征与随访、视频脑电图及实验室检查。
我们报告了一名患有神经母细胞瘤和眼阵挛-肌阵挛病史的8岁男孩的病例，该男孩出现智力残疾、药物治疗耐药性癫痫及CSWS/ESES。尽管患者的神经母细胞瘤在就诊前8年已成功治疗，且全面检查未显示肿瘤复发，但肿瘤相关神经元抗体检测显示抗Ma2和抗CV2/CRMP5抗体呈阳性。给予大剂量静脉注射甲基强的松龙并逐渐减量口服甲基强的松龙，临床症状显著改善。在减量过程中，患者病情及脑电图表现再次恶化，需要再次进行类固醇治疗周期，从而实现稳定改善。在6个月的随访中，脑电图未出现CSWS/ESES，抗Ma2和抗CV2/CRMP5抗体仍未检测到。
该病例提示肿瘤相关神经元抗体可能参与CSWS/ESES的发病机制。
