Dlouhy Brian J, Miller Brandon, Jeong Anna, Bertrand Mary E, Limbrick David D, Smyth Matthew D
Department of Neurosurgery, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, 63130, USA.
Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Childs Nerv Syst. 2016 Sep;32(9):1703-8. doi: 10.1007/s00381-016-3201-4. Epub 2016 Jul 27.
Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is a rare genetic disorder that results in severe childhood-onset epilepsy. Children with DS initially present with seizures in the first year of life that are often associated with fevers. With age, multiple seizure types develop. There are few reports and no guidelines regarding palliative surgical treatment for DS. Therefore, we reviewed our surgical experience with DS.
We conducted a retrospective review of all patients with genetically confirmed DS who underwent either vagal nerve stimulator (VNS) implantation or corpus callosotomy (CC) from May 2001 to April 2014 at our institution. All inpatient and outpatient relevant documentation were reviewed. Demographic information, genetic mutation, operation performed, and preoperative and postoperative seizure frequency were recorded. Inclusion criteria required greater than one-year postoperative follow-up.
Seven children with DS were assessed. Six patients were treated with VNS and one patient was treated with CC. In one child, VNS was followed by CC as a secondary procedure. Therefore, in total, eight surgeries were performed on seven patients during the study period. At least 1 year elapsed from presentation to our hospital and surgery for all patients. Average time after the first seizure to VNS was 4.1 years, and the average time after the first seizure to CC was 7.6 years. The mean age of patients undergoing VNS implantation was 4.3 years, and the mean age for patients undergoing CC was eight. Average follow-up for all seven patients was 6.6 years. Seizures were decreased in five of the six patients with VNS and decreased in the two patients after CC. Four of the six patients who had VNS implanted had a greater than 50 % reduction in seizure frequency, and one of the six patients who had VNS implanted had a less than 50 % reduction in seizure frequency. One patient did not respond effectively to the VNS and had very limited change in seizure frequency. Both patients who had a CC had a greater than 50 % reduction in seizure frequency.
Both VNS and CC in patients with DS can be effective at reducing seizure frequency. Patients with DS may benefit from earlier and more aggressive surgical intervention. Studies using larger patient cohorts will help clarify the role that surgery may play in the multidisciplinary approach to controlling seizures in DS. Further studies will help determine the appropriate timing of and type of surgical intervention.
德雷维特综合征（DS），也称为婴儿严重肌阵挛性癫痫（SMEI），是一种罕见的遗传性疾病，可导致严重的儿童期癫痫发作。DS患儿最初在生命的第一年出现癫痫发作，通常与发热有关。随着年龄的增长，会出现多种癫痫发作类型。关于DS的姑息性手术治疗的报道很少，也没有相关指南。因此，我们回顾了我们对DS的手术经验。
我们对2001年5月至2014年4月在我院接受迷走神经刺激器（VNS）植入或胼胝体切开术（CC）的所有基因确诊为DS的患者进行了回顾性研究。查阅了所有住院和门诊的相关病历。记录人口统计学信息、基因突变、所进行的手术以及术前和术后的癫痫发作频率。纳入标准要求术后随访时间超过一年。
评估了7例DS患儿。6例患者接受了VNS治疗，1例患者接受了CC治疗。在1例患儿中，VNS之后又进行了CC作为二次手术。因此，在研究期间，7例患者共进行了8次手术。所有患者从到我院就诊至手术至少间隔1年。首次发作至VNS的平均时间为4.1年，首次发作至CC的平均时间为7.6年。接受VNS植入的患者平均年龄为4.3岁，接受CC的患者平均年龄为8岁。所有7例患者的平均随访时间为6.6年。6例接受VNS治疗的患者中有5例癫痫发作减少，CC术后的2例患者癫痫发作也减少。6例接受VNS植入的患者中有4例癫痫发作频率降低超过50%，6例接受VNS植入的患者中有1例癫痫发作频率降低不到50%。1例患者对VNS反应不佳，癫痫发作频率变化非常有限。2例接受CC治疗的患者癫痫发作频率均降低超过50%。
DS患者的VNS和CC都能有效降低癫痫发作频率。DS患者可能从更早、更积极的手术干预中获益。使用更大患者队列的研究将有助于阐明手术在DS癫痫发作控制的多学科方法中可能发挥的作用。进一步的研究将有助于确定手术干预的合适时机和类型。
