Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86
Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86
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DOI：
10.1007/s00381-013-2185-6
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发表时间：
2014-02-01
影响因子：
1.4
通讯作者：
Kumandas, Sefer
中科院分区：
文献类型：
--
作者：
Canpolat, Mehmet;Per, Huseyin;Kumandas, Sefer
结节性硬化症(TSC)是一种遗传性疾病，其特征是在各种器官系统形成错构瘤。我们想分享我们86名患者的经验和雷帕霉素治疗7名儿童TSC的结果。86名TSC儿童纳入了这项回顾性研究。本文详细介绍了7例口服雷帕霉素的患儿的临床特点，最常见的用药主诉是惊厥77例(89.5%)。皮肤色素减退、皮脂腺瘤、顽固性癫痫、心内包块、肾血管平滑肌脂肪瘤和West综合征的发生率分别为96.5%、54.7%、41.9%、31.4%、20.9%和15.1%。脑室管膜下结节最常见，其次为皮质结节和室管膜下巨细胞星形细胞瘤(n=75，87.2%；n=71，82.6%；n=8，9.3%)。在雷帕霉素治疗的7例患儿中，6例儿童面部皮脂腺瘤的皮损均有不同程度的消退。5例难治性癫痫患者在治疗前6个月内惊厥次数减少，后6个月所有患者惊厥完全控制。这是首次研究表明雷帕霉素是一种有效的控制癫痫的药物，没有任何明显的副作用。雷帕霉素在治疗6个月后似乎有效，我们建议在成功治疗癫痫后逐渐减少剂量。
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC.Eighty-six children with TSC were enrolled into this retrospective study. The clinical features of seven children treated with oral rapamycin were presented in detail.The most common complaint of administration was convulsion in 77 children (89.5 %). Hypopigmented skin lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and West syndrome were detected (n = 83, 96.5 %; n = 47, 54.7 %; n = 36, 41.9 %; n = 27, 31.4 %; n = 18, 20.9 %; and n = 13, 15.1 %, respectively). Subependymal nodules were the most frequent finding in cranial imaging followed by cortical tubers and subependymal giant cell astrocytomas (n = 75, 87.2 %; n = 71, 82.6 %; and n = 8, 9.3 %, respectively). Of the seven patients treated with rapamycin, the lesions of six children with facial adenoma sebaceum showed regression in various degrees. The frequency of convulsions decreased in five patients with resistant epilepsy within the first 6 months of the treatment, and complete control of convulsion for all patients was achieved in the second 6 months.This is the first study that showed that rapamycin is an effective agent for controlling epilepsy without any significant side effect in children with TSC. Rapamycin seems to be effective after 6 months of therapy, and we recommend tapering the dosage after successful management of epilepsy.