Kalra V, Gulati S, Pandey R M, Menon S
Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Brain Dev. 2001 Nov;23(7):593-602. doi: 10.1016/s0387-7604(01)00288-1.
Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic modalities and their influence on spasm frequency, long-term development and final seizure status were compared. The two primary outcome variables analyzed included final seizure status and developmental outcome. Of the 94 infantile epileptic encephalopathies, West syndrome was the commonest (55.3%), of which two thirds were symptomatic. Etiological factors were prenatal in 66.6% and perinatal in 33.3%. The initial response to ACTH was good in 54.5% with subsequent relapse in 27.8% and for prednisolone was 52.9 and 44.4%, respectively, compared to 25.3% spasms control with conventional antiepileptic drugs. Disease category of infantile epileptic encephalopathies evolved in 4, i.e. early myoclonic encephalopathy to West syndrome 1, early infantile epileptic encephalopathy to West syndrome 1, West syndrome to Lennox-Gastaut syndrome 2. Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. Final seizure outcome was poor in children with delayed development at onset (adjusted odds ratio [OR]=4), delay in diagnosis >12 months (OR=2.27) and in children with Lennox-Gastaut syndrome (OR=4.75). ACTH/prednisolone and antiepileptic treatment versus antiepileptics alone showed a good final seizure response in 36.6% versus 20%. Development on follow up was delayed in children with initial psychomotor retardation (OR=23.4) and abnormal electroencephalogram (OR=7.46). Perinatal factors constituted one third of symptomatic West syndrome. The use of ACTH/corticosteroids resulted in good initial spasm control though final seizure outcome and development were unaffected. Prednisolone had similar response to ACTH in spasm control but higher subsequent relapse rate. Vigabatrin was useful though often unaffordable. The identification of a neurometabolic etiology, though uncommon, has significant therapy implications. Delay in diagnosis was common and negatively influenced final seizure outcome.
对一家三级医院儿科神经科门诊登记病例中占3.5%的婴儿癫痫性脑病患儿进行了回顾性分析。从病例记录中检索数据，并对癫痫发作症状学、产前和围产期损伤、发育状况及相关检查进行分析。比较了各种治疗方式及其对痉挛频率、长期发育和最终癫痫发作状态的影响。分析的两个主要结局变量包括最终癫痫发作状态和发育结局。在94例婴儿癫痫性脑病中，韦斯特综合征最为常见（55.3%），其中三分之二为症状性。病因方面，66.6%为产前因素，33.3%为围产期因素。促肾上腺皮质激素（ACTH）初始反应良好的比例为54.5%，随后复发率为27.8%；泼尼松龙初始反应良好的比例分别为52.9%和44.4%，而传统抗癫痫药物控制痉挛的比例为25.3%。4例婴儿癫痫性脑病的疾病类型发生了演变，即早期肌阵挛性脑病演变为韦斯特综合征1型、早期婴儿癫痫性脑病演变为韦斯特综合征1型、韦斯特综合征演变为伦诺克斯-加斯东综合征2型。88.2%的患儿存在精神运动发育迟缓，16.1%在痉挛发作开始时发育正常。小头畸形与发育延迟有关，但不影响最终癫痫发作结局。痉挛发作开始时发育延迟的患儿（调整优势比[OR]=4）、诊断延迟>12个月的患儿（OR=2.27）以及患有伦诺克斯-加斯东综合征的患儿（OR=4.75）最终癫痫发作结局较差。ACTH/泼尼松龙联合抗癫痫治疗与单纯抗癫痫治疗相比，最终癫痫发作反应良好的比例分别为36.6%和20%。初始精神运动发育迟缓的患儿（OR=23.4）和脑电图异常的患儿（OR=7.46）随访时发育延迟。围产期因素占症状性韦斯特综合征的三分之一。使用ACTH/皮质类固醇虽能良好控制初始痉挛，但最终癫痫发作结局和发育情况未受影响。泼尼松龙在痉挛控制方面对ACTH的反应相似，但后续复发率较高。氨己烯酸虽有效但往往费用高昂。神经代谢病因的识别虽不常见，但具有重要的治疗意义。诊断延迟很常见，且对最终癫痫发作结局有负面影响。
