图形敏感性癫痫的临床及脑电图特征

Clinical and electroencephalogram characteristics of pattern-sensitive epilepsy

目的探讨图形敏感性癫痫(PSE)的临床及脑电图特征。方法回顾性病例总结。收集2015年1月至2023年9月来自北京大学人民医院4例PSE患儿的病例资料,对患儿临床、脑电图(EEG)、治疗和预后进行回顾性分析。结果4例中女3例;2例起病前有发育落后。4例中3例存在自发性发作,其中病例1监测到痉挛发作及强直发作,病例3监测到不典型失神发作、肌阵挛发作、全面强直-阵挛发作,病例4监测到眼睑肌阵挛发作;4例均为图形诱发的反射性癫痫发作,其中3例EEG监测到图形诱发的发作且伴有光敏感性。3例图形诱发的发作中,1例诱发了肌阵挛发作,1例诱发了眼睑肌阵挛发作,1例诱发了肌阵挛发作和局灶继发双侧强直-阵挛发作2种发作类型。4例中2例诊断为癫痫综合征,分别为Lennox-Gastaut综合征及眼睑肌阵挛癫痫。4例均有发作间期放电,其中广泛性放电2例,多灶性放电与广泛性放电共存1例,前头部放电1例。4例中3例完善了家系全外显子基因及拷贝数变异检测,其中1例为2号染色体MBD5基因c.73T>C(p.W25R)新发杂合变异。3例进行了抗癫痫发作药物(ASM)治疗,1例因发作为诱发性发作,未服用ASM,随访5~10年后4例癫痫发作均未控制。结论PSE女性患儿较多见,可与发育落后、智力障碍等共患病共存。PSE患儿EEG多为广泛性放电,自发性癫痫发作与诱发性癫痫发作共存,且以全面性发作类型为主。ASM治疗对PSE患儿的反射性癫痫发作较难控制。

Objective To investigate the clinical and electroencephalogram(EEG)characteristics of pattern-sensitive epilepsy(PSE).Methods This retrospective case summary study enrolled 4 pediatric patients with PSE treated at the Peking University People′s Hospital from January 2015 to September 2023.The clinical data,EEG findings,treatments,and prognosis were retrospectively analyzed.Results Among the 4 patients,3 were female,and 2 had developmental delays before the onset of the disease.Spontaneous seizures occurred in 3 cases,including spasticity and tonic seizures in case 1,atypical absence seizures,myoclonic seizures,and general tonic-clonic seizures in case 3,and eyelid myoclonic seizures in case 4.All 4 cases exhibited pattern-induced reflex seizures,and pattern-induced seizures with photosensitivity were monitored by EEG in 3 cases.Of the 3 cases,1 had myoclonic seizures,1 had eyelid myoclonic seizures,and 1 had both myoclonic seizures and focal to bilateral tonic-clonic seizures.Two out of the 4 patients were diagnosed with epilepsy syndromes:Lennox-Gastaut syndrome and epilepsy with eyelid myoclonia.All 4 patients had interictal discharges,including 2 cases of generalized discharges,1 case of multifocal discharges combined with generalized discharges,and 1 case of anterior head discharges.Three cases underwent the detection of whole exon gene and copy number variation,and 1 case showed a novel heterozygous mutation c.73T>C(p.W25R)in the MBD5 gene on chromosome 2.Three patients were treated with antiseizure medication(ASM),while 1 did not receive ASM treatment because the seizures were all induced.However,none of the 4 had seizures under control after 5 to 10 years of follow-up.Conclusions PSE is more common in female children and may co-occur with developmental delays and intellectual disabilities.In PSE children,the EEG shows mostly generalized discharges,spontaneous seizures,induced seizures,and predominantly generalized seizures coexist.Reflex seizures in PSE patients are more difficult to control with ASM treatment.