Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86

被引:35
作者
Canpolat, Mehmet [1 ]
Per, Huseyin [1 ]
Gumus, Hakan [1 ]
Yikilmaz, Ali [2 ]
Unal, Ekrem [3 ]
Patiroglu, Turkan [3 ]
Cinar, Levent [4 ]
Kurtsoy, Ali [5 ]
Kumandas, Sefer [1 ]
机构
[1] Erciyes Univ, Fac Med, Dept Pediat, Div Pediat Neurol, TR-38039 Kayseri, Turkey
[2] Erciyes Univ, Fac Med, Dept Radiol, Div Pediat Neurol, TR-38039 Kayseri, Turkey
[3] Erciyes Univ, Fac Med, Dept Pediat, Div Pediat Hematol & Oncol, TR-38039 Kayseri, Turkey
[4] Kayseri Educ & Res Hosp, Dermatol Clin, Kayseri, Turkey
[5] Erciyes Univ, Fac Med, Dept Neurosurg, TR-38039 Kayseri, Turkey
关键词
Children; Epilepsy; Rapamycin; Tuberous sclerosis complex; GIANT-CELL ASTROCYTOMA; MAMMALIAN TARGET; SIGNALING PATHWAY; PHARMACOLOGICAL INHIBITION; CONSENSUS CONFERENCE; INFANTILE SPASMS; NATURAL-HISTORY; MTOR PATHWAY; MOUSE MODEL; VIGABATRIN;
D O I
10.1007/s00381-013-2185-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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收藏
页码:227 / 240
页数:14
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