小儿结节性硬化症合并癫癎的随访研究

Follow-up of tuberous sclerosis complex complicated by epilepsy in children

目的调查结节性硬化症(TSC)合并癫癎的治疗转归及癫癎反复发作的高危因素。方法回顾性分析我院66例TSC患儿的资料。结果66例TSC患儿中,随访47例,随访时间为7个月至9.3年,平均4.5±2.6年。患儿现在年龄7.7±4.1岁,癫癎发作类型:40%有婴儿痉挛症,51%有强直性发作,32%有部分性发作,强直-阵挛性发作占6%,多灶性发作、失张力发作、不典型失神发作、抑制性运动发作各占2%。目前使用抗癫癎药1.9±0.86种,中位数1种。26%仍然癫癎发作,70%无发作,4%死亡。手术治疗3例,均在继续用药,随访1.5年以上,无发作。应用非条件logistic回归方法分析,发现起病年龄(RR=1.8,95%CI1.0～3.2,P=0.050)、抗癫癎药的种类(RR=4.8,95%CI1.2～18.6,P=0.024)、强直发作(RR=0.003,95%CI0.0～0.2,P=0.04)、性别(RR=0.016,95%CI0.0～0.5,P=0.017)是癫癎反复发作的高危因素。30例7岁以上儿童57%例可以上普通学校,10%上特殊学校;33%因为智力、言语发育落后不能上学。结论对TSC合并癫癎进行抗癫癎治疗可以达到大部分无发作。癫癎发作起病年龄早、强直发作、需要多种抗癫癎药是癫癎反复发作的高危因素。

Objective To investigate the treatment outconle and risk faetors for intractable seizures in children with tuberous sclerosis complex （TSC） complicated by epilepsy. Methods The medical data of 66 cases of TSC were retrospectively studied. Results Of the 66 children with TSC, 47 cases were available for follow-up. The follow-up period ranged from 7 months to 9.3 years （average 4.5 ±2.6 years）. The patients＇ present average age was （7.7 ±4.1 ） years （median 8 years）. Among the 47 cases, 19 （40%） had infantile spasms, 24 （51%） had tonic seizures, 15 （32%） had partial seizures, and 3 （6%） had tonic-clonic seizures, and additionally, multifocal seizures, atonic seizures, atypical absence seizures and hypomotor seizures each appeared in 1 case （2%） respectively. The average number of antiepileptic drugs used was 1.9 ±0.86 （ median 1 ）. Among the 47 patients, 12 （26%） still had epileptic seizures and 33 （70%） were seizure-free, and 4% were dead. Three cases underwent surgery and continued to receive medication ＇after surgery. The three patients were seizure-free in a 1.5 years follow-up. Among the 30 children over 7 years old, 17 cases （57%） were enrolled in ordinary schools, 3 cases （ 10% ） in special schools and the other 10 cases were off-school for disabilities of intelligence and speech. The non-conditional logistic regression showed that the age of onset （RR = 1.8, 95% CI I. 0- 3.2, P = 0. 050） , administration of multiple antiepileptic drugs （RR = 4.8, 95% CI 1.2-18.6, P = 0. 024 ） , tonic seizures （RR=0.003, 95% CI0.0-0.2, P=0.04） and sex （RR=0.016, 95% Cl0.0-0.5, P=0.017） were risk factors for intractable seizures. Conclusions The majority （70%） of children with TSC complicated by epilepsy can be seizure-free with suitable treatment. The risk factors of poor outcome in seizure control may involve in the early onset age, tonic seizures and the administration for multiple anti-epileptic drugs.