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

摘要:

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% CI 1.0～3.2, P=0.050）、抗癫癎药的种类(RR=4.8, 95% CI 1.2～18.6, P=0.024)、强直发作(RR=0.003, 95% CI 0.0～0.2, P=0.04)、性别(RR=0.016, 95% CI 0.0～0.5, 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。［中国当代儿科杂志，2009，11（12）：996-998］

Abstract:

OBJECTIVE: To investigate the treatment outcome and risk factors 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 1.0- 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% CI 0.0- 0.2, P=0.04) and sex (RR=0.016, 95% CI 0.0-0.5, 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.［Chin J Contemp Pediatr, 2009, 11 (12):996-998］