脑室旁结节状灰质异位合并或未合并其他病理学类型癫痫患儿的外科治疗策略

Surgical treatment strategies of periventricular nodular heterotopia for children with epilepsy combined with or without other pathologic types

目的探讨脑室旁结节状灰质异位(PNH)合并或未合并其他病理学类型癫痫患儿的外科治疗策略及效果.方法回顾性分析2017年10月至2023年9月首都医科大学附属北京儿童医院功能神经外科收治的以癫痫发作为表现并行外科治疗的9例PNH患儿的临床资料.术前影像学检查5例患儿合并局灶性皮质发育不良(FCD),1例合并巨脑回畸形和脑裂畸形.所有患儿术前均先经无创性检查评估,明确致痫灶后直接行外科手术治疗;部分致痫起源难以确认时行立体脑电图(SEEG)电极置入,并行射频热凝(RFTC)毁损,根据SEEG及RFTC结果决定进一步外科治疗方案.采用门诊或电话随访的方式对患儿进行随访,通过Engel分级标准评估癫痫发作的控制效果.结果9例患儿的手术均顺利完成.4例患儿直接行外科手术治疗,其中2例合并FCD的患儿行开颅手术切除FCD致痫灶,1例存在明显基因异常并以癫痫性脑病为主要表现的患儿行迷走神经电刺激术,1例合并巨脑回畸形和脑裂畸形患儿行大脑半球离断术.其余5例患儿行SEEG电极置入,其中2例仅对PNH行RFTC,3例合并FCD的患儿RFTC毁损PNH后行FCD致痫灶切除.5例合并FCD的患儿,术后经病理学证实均为FCDⅡ型.所有患儿术后均未见与手术相关的并发症发生.9例患儿均获得临床随访,随访时间[M(Q_(1),Q_(3))]为20(14,29)个月,末次随访显示,7例患儿的预后良好,Engel分级均为Ⅰ级;2例预后不良,Engel分级Ⅱ级1例(仅对PNH行RFTC的患儿),Ⅲ级1例(行大脑半球离断术的患儿).结论PNH合并或未合并其他癫痫病理学类型时,应根据其病理学类型进行个体化治疗.尤其当合并FCD时,切除FCD均可获得良好预后.

Objective To investigate the surgical strategies and outcome of periventricular nodular heterotopia(PNH)for children with epilepsy combined with or without other pathologic types.Methods The clinical data of 9 PNH patients who received surgical treatment from October 2017 to September 2023 in the Department of Functional Neurosurgery,Beijing Children's Hospital,Capital Medical University were retrospectively analyzed.Neuroimaging data showed that 5 of the 9 patients also had focal cortical dysplasia(FCD)and 1 had megalencephaly and schizencephaly.All patients underwent non-invasive examination during pre-operation evaluation.After identifying the epileptogenic lesion,surgical treatment was directly performed.Stereo-electroencephalography(SEEG)was performed in those patients whose epileptogenic zone was unable to localize,at the same time,radiofrequency thermocoagulation(RFTC)was performed.And the following surgical treatment was determined according to the SEEG and RFTC results.Patients were followed up by outpatient visits or telephone interview.The Engel grading system was used to evaluate the results of seizure control.Results All 9 patients underwent surgical treatment,4 of whom underwent surgical resection,including 2 FCD patients underwent lesion resection directly.One patient with obvious genetic abnormalities and epileptic encephalopathy underwent vagus nerve stimulation.One child with megalencephaly and schizencephaly underwent hemispherotomy.The remaining 5 children underwent SEEG electrode implantation.Among them,2 patients only underwent RFTC for PNH,and 3 children with FCD underwent RFTC of PNH followed by epileptogenic zonectomy.Five children with FCD were all confirmed to be FCD typeⅡby pathology after surgery.There were no surgery-related complications in any of the children.All 9 children received clinical follow-up,and the follow-up time M(Q_(1),Q_(3))was 20(14,29)months.The last follow-up showed that 7 children had a good outcome,all were Engel gradeⅠ.There were 2 cases with poor outcome,including 1 case of Engel gradeⅡ(the child underwent RFTC only for PNH)and 1 case of Engel gradeⅢ(the child underwent hemispherotomy).Conclusions When PNH is combined with or without other pathological types of epilepsy,individualized treatment should be carried out according to the pathological type.Especially when combined with FCD,excision of FCD can obtain a good outcome.