失神持续状态癫痫1例并文献复习

Absence status epilepsy:a case report and literature review

目的提高临床医师对失神持续状态癫痫(ASE)的认识。方法分析首都医科大学附属北京天坛医院癫痫科2022年11月20日收住院的1例ASE患者的发作期临床表现、发作间期及发作期脑电图特点,并结合文献进行回顾性分析,对该病发病机制、临床及脑电图特点、鉴别诊断、诊治经验进行总结。结果本例患者女性,38岁,18岁起病,临床主要表现为反复出现较长时间的意识水平下降,间有全面强直阵挛发作,长程视频脑电图示发作间期可见广泛性棘慢波、慢波散发,发作期可见持续性或接近持续性2.5~3.0 Hz广泛性棘慢波放电,实验室、影像学检查正常,诊断为ASE。共检索到7篇英文文献报道的符合ASE诊断的病例17例,加上本文病例共18例。ASE是特发性全面性癫痫的一种特定亚型,男女比例1∶1,16/18于青年-中年起病,平均发病年龄为25.3岁,失神持续状态发作是其具有代表性或主要的发作类型,15/18合并不频繁的全面强直阵挛发作,无独立肌阵挛发作,其脑电图发作间期多为正常背景下3.0 Hz左右广泛性或不完全广泛性棘慢或多棘慢波,可有非定位性局灶性放电,发作期为≥2.5 Hz(2~4 Hz为主)的持续性或接近持续性、节律性或非节律性广泛性棘或多棘慢放电,主要需与晚发的新发ASE、伴幻影失神的成人特发性全面性癫痫进行鉴别,首选药物为丙戊酸钠、拉莫三嗪,药物选择正确,预后较好。结论ASE临床罕见,其发病机制尚不十分明确,极易被误诊为非痫性发作或局灶性发作。对于起病较晚,有不频繁全面强直阵挛发作且临床符合特发性全面性癫痫的患者,出现长时间意识、反应能力和行为变化时,需警惕ASE,及时完善长程视频脑电监测以避免误诊和误治。

Objective To improve the knowledge of clinicians about absence status epilepsy(ASE).Methods The ictal clinical manifestations,the interictal and ictal phase electroencephalogram(EEG)characteristics of 1 patient with ASE in the Department of Epilepsy,Beijing Tiantan Hospital,Capital Medical University on November 20,2022 were analyzed,and the pathogenesis,clinical and EEG characteristics,differential diagnosis,treatment experience of ASE were summarized by retrospective analysis combined with previous literature review.Results The patient was a 38-year female,with onset age of 18 years.The main clinical manifestations were repeated prolonged decline of consciousness with generalized tonic-clonic seizures.The long-range video EEG showed generalized spike-slow wave and slow wave sporadic in the interictal period,and continuous or sub-continuous 2.5-3.0 Hz generalized spike-slow wave discharge in the ictal period,and the laboratory and imaging findings were normal.A total of 17 patients consistent with ASE diagnosis were reported in 7 English literatures,and there were totally 18 cases(including this patient)analyzed in this paper.ASE is a specific subtype of idiopathic generalized epilepsy(IGE).The ratio of male to female was 1∶1.The onset age of 16/18 patients was in youth to middle age,and the average onset age was 25.3 years.Absence status epilepticus was the representative or main seizure type,and 15/18 patients presented with infrequent generalized tonic-clonic seizures,no independent myoclonic seizures were found.The interictal EEG showed generalized or incomplete generalized spike-wave or poly spike-wave discharges around 3.0 Hz under normal background,and may have focal non-localizing discharges.The ictal EEG presented as continuous or sub-continuous rhythmical or non-rhythmical≥2.5 Hz(mainly 2-4 Hz)generalized spike or poly spike-wave discharges.ASE mainly needed to be distinguished from de novo late-onset absence status epilepticus,adult IGE with phantom absences.The first choice of drugs included valproate sodium and lamotrigine.The correct drug selection resulted in better prognosis.Conclusions ASE is clinically rare.By far,its pathogenesis is not well understood.ASE can easily be misdiagnosed as non-epileptic or focal seizure.For patients with late onset,infrequent generalized tonic-clonic seizures who are clinically consistent with IGE,ASE is necessary to be vigilant when there are long-term changes in consciousness,response ability and behavior.Long-term video EEG monitoring should be perfected in time to avoid misdiagnosis and mistreatment.