进食诱发反射性癫痫患儿的临床及脑电图特征分析(附3例报告)

Clinical and electroencephalographic features of children with eating-induced reflex epilepsy:A report of three cases

目的探讨进食诱发反射性癫痫患儿的临床及脑电图(EEG)特征。方法回顾性分析2014—2024年于我院儿科就诊的3例进食诱发反射性癫痫患儿的临床特征、EEG结果、治疗方法以及预后情况。结果3例患儿中2例为男性。2例起病前发育正常,1例起病前诊断为智力障碍。患儿颅脑MRI检查结果均正常,其中2例完善了家系全外显子基因检测及拷贝数变异检测,结果均为阴性。病例1起病为局灶性发作,后期出现局灶继发双侧强直-阵挛发作;EEG监测到发作间期为双侧Rolandic区放电,但未监测到进食诱发发作。病例2为清醒期局灶性癫痫性痉挛,睡眠期全面性肌阵挛发作;EEG监测到发作间期为多灶性放电及广泛性放电共存,饮水诱发3次成串右侧为主广泛性多位相慢波伴癫痫性痉挛,以及睡眠期数次自发的全面性肌阵挛发作。病例3为局灶性癫痫性痉挛和全面性强直发作共存;EEG监测到发作间期为多灶性放电及广泛性放电共存,进食诱发1次成串左侧后颅部为主的多位相慢波伴癫痫性痉挛。3例患儿均应用了2种以上抗癫痫发作药物(ASMs)未控制癫痫发作,且起病后均有不同程度智力障碍。结论进食诱发反射性癫痫男性患儿略多见,发病后伴随智力障碍;该病自发性发作与诱发性发作常共存,癫痫性痉挛为较常见的诱发发作类型,发作间期EEG可表现为局灶性放电、广泛性放电或两者共存;ASMs对该病疗效较差。

Objective To investigate the clinical and electroencephalographic(EEG)features of children with eating-induced reflex epilepsy.Methods A retrospective analysis was performed for the clinical features,EEG findings,treatment,and prognosis of three children with eating-induced reflex epilepsy who attended Department of Pediatrics in our hospital from 2014 to 2024.Results There were two boys among the three children.Two children had normal intellectual development before the onset of the disease,while one was diagnosed with intellectual disability.All three children had normal cranial MRI results,and whole-exome genetic testing and copy number variation testing were performed for two children and their families,which yielded negative results.In case 1,the child had focal seizures and later developed into focal secondary bilateral tonic-clonic seizures,and EEG monitoring showed bilateral Rolandic discharges in the interictal period,but without eating-induced seizures.In case 2,the child had focal epileptic spasms during wakefulness and generalized myoclonic seizures during sleep,and EEG monitoring showed the coexistence of multifocal discharges and generalized discharges in the interictal period,drinking water induced three clusters of predominantly right-sided generalized multiphase slow waves with epileptic spasms,as well as several spontaneous generalized myo-clonic seizures during sleep.In case 3,the child had coexistence of focal epileptic spasms and generalized tonic seizures,and EEG monitoring showed the coexistence of multifocal discharges and generalized discharges,eating induced a cluster of predominantly left posterior multiphase slow waves with epileptic spasms.All three children received more than two anti-seizure medications(ASMs)and failed to achieve the control of seizures,and they presented with varying degrees of intellectual disability after disease onset.Conclusion Eating-induced reflex epilepsy is slightly more common in boys and is often accompanied by intellectual disability after disease onset.The coexistence of spontaneous seizures and induced seizures is often observed in this disease,with epileptic spasms being the more common type of eating-induced seizures.EEG manifestations in the interictal period include focal discharges,generalized discharges,or the coexistence of both types of discharges.ASMs have a poor therapeutic effect on this disease.