Puertas-Martin Verónica, Carreras-Saez Inmaculada, Marana Ana, Ruiz-Falco Rojas M Luz, Cantarin-Extremera Verónica, Calleja-Gero M Lourdes
Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
Rev Neurol. 2014 Jun 16;58(12):529-35.
Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients' quality of life and cognitive level. AIM. To describe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy.
A retrospective review was carried out of the medical records of 30 patients aged under 18 registered in our database, who had been diagnosed with TSC and epilepsy.
The age at onset of epilepsy in the patients with TSC in our series ranged from one month to four years. All of them began with partial crises. Two presented West's syndrome and four others had infantile spasms without hypsarrhythmia. In 19 of the patients, the epilepsy was medication resistant. As regards treatment with antiepileptic drugs, 11 are in monotherapy, 10 in bitherapy, seven in tritherapy and one with four drugs. Two were given ACTH, two carry an implanted vagal nerve stimulator, four receive treatment with everolimus and eight have undergone surgery.
Epilepsy is a very common problem and begins in the early years of life in TSC. There are currently a large number of therapeutic options available, although 63.3% of patients have non-controlled epilepsy and most of them present crises on a daily basis. Poor control of their crises is correlated with mental retardation and autism spectrum disorder. The positive response obtained with other therapeutic possibilities, such as mTOR pathway inhibitors, surgery and vagal nerve stimulator, should be noted.
结节性硬化症（TSC）常伴有难以治疗的癫痫，这影响着这些患者的生活质量和认知水平。目的：描述结节性硬化症合并癫痫患者的流行病学和临床特征以及治疗情况。
对我们数据库中登记的30例18岁以下被诊断为结节性硬化症和癫痫的患者的病历进行回顾性研究。
我们研究系列中结节性硬化症患者癫痫发作的起始年龄为1个月至4岁。所有患者均以部分性发作开始。2例出现韦斯特综合征，另外4例有无节律失调的婴儿痉挛。19例患者的癫痫对药物治疗耐药。在抗癫痫药物治疗方面，11例采用单药治疗，10例采用两药联合治疗，7例采用三药联合治疗，1例采用四种药物治疗。2例接受促肾上腺皮质激素（ACTH）治疗，2例植入了迷走神经刺激器，4例接受依维莫司治疗，8例接受了手术。
癫痫是结节性硬化症患者早年生活中非常常见的问题。目前有大量的治疗选择，尽管有63.3%的患者癫痫未得到控制，且大多数患者每天都有发作。癫痫发作控制不佳与智力发育迟缓及自闭症谱系障碍相关。应注意其他治疗方法如mTOR通路抑制剂、手术和迷走神经刺激器所取得的积极疗效。
