Okazaki Tetsuya, Saito Yoshiaki, Hiraiwa Rika, Saitoh Shinji, Kai Masachika, Adachi Kaori, Nishimura Yoko, Nanba Eiji, Maegaki Yoshihiro
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Division of Clinical Genetics, Tottori University Hospital, Yonago.
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago.
Epileptic Disord. 2017 Sep 1;19(3):339-344. doi: 10.1684/epd.2017.0922.
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds. Ictal EEG showed rhythmic, generalized slow or spike-and-wave complex activity with posterior predominance. Moderate psychomotor developmental delay and unsteady gait were also noted. Neuroimaging results were normal. Seizures were refractory to carbamazepine and levetiracetam but were reduced in frequency by ethosuximide and lamotrigine administration. Genetic analysis identified a c.3583-6 G>A mutation in the SYNGAP1 gene. SYNGAP1 gene analysis should be considered for intellectually disabled patients with early-onset drug resistant eyelid twitching and photosensitivity. Further clinical research on SYNGAP1 function may be necessary to treat epilepsy of this aetiology. [Published with video sequence on www.epilepticdisorders.com].
SYNGAP1基因突变与通常耐药的癫痫有关，癫痫发作类型包括眼睑肌阵挛。然而，包括发作期视频脑电图在内的详细描述尚未见报道。我们报告一例4岁男孩，其在1岁5个月时出现反复发作的癫痫性眼睑抽搐。发作频率逐渐增加至每天50多次，表现为眼球向上偏斜、动作停止、意识丧失以及持续5秒的眼睑抽搐。发作期脑电图显示节律性、广泛性慢波或棘慢复合波活动，以后头部为主。还注意到中度精神运动发育迟缓及步态不稳。神经影像学检查结果正常。卡马西平和左乙拉西坦治疗无效，但乙琥胺和拉莫三嗪给药后发作频率降低。基因分析确定SYNGAP1基因存在c.3583-6 G>A突变。对于有早发性耐药性眼睑抽搐和光敏性的智障患者，应考虑进行SYNGAP1基因分析。可能需要对SYNGAP1功能进行进一步的临床研究以治疗这种病因的癫痫。[在www.epilepticdisorders.com上发布了视频序列]
