Shehata Hatem S, AbdelGhaffar Hadeer Mahmoud, Nasreldin Mohammed, Elmazny Alaa, Abdelalim Ahmed, Sabbah Asmaa, Shalaby Nevin M
Department of Neurology, Cairo University, Giza.
Department of Paediatrics, Fayoum University, Fayoum.
Ther Clin Risk Manag. 2017 Jun 30;13:779-785. doi: 10.2147/TCRM.S138576. eCollection 2017.
Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients.
To study the clinical characteristics and outcomes of SE in TSC patients.
This observational, prospective study was carried out on 36 Egyptian children with definite TSC. Clinical history, general and neurological examination and psychometric evaluation by standard questionnaires were used to explore characteristics of epileptic manifestations and clinical patterns of SE. All included patients were required to have long-term video electroencephalograms (EEGs) and brain MRI performed.
A total of 32 attacks of SE were recorded in 21 patients (58.3%) in our cohort during a follow-up period of 2.8±1.1 years; of those patients, 15 had convulsive status, 7 had non-convulsive SE, 6 had refractory/super-refractory SE and 14 patients had a history of infantile spasms (epileptic spasms). The duration of status ranged from 40 to 150 min (mean ± standard deviation: 90±15). Fourteen patients with SE had severe mental retardation, 9 had autistic spectrum disorder and 22 had severe epileptogenic EEG findings. Patients with SE had higher tuber numbers (mean: 9.6), 5 patients had subependymal giant cell astrocytomas and 2 patients had their SE after receiving everolimus.
The incidence of SE in our patient sample is high (>50%); severe mental retardation, autistic features, history of infantile spasm (epileptic spasms) and high tuber burden are risk factors for developing SE.
难治性癫痫是结节性硬化症（TSC）患者的常见临床表现，可能并发许多危及生命的情况，如癫痫持续状态（SE）。然而，很少有报告提及这些患者中SE的发作形式和症状学。
研究TSC患者中SE的临床特征和转归。
对36例确诊为TSC的埃及儿童进行了这项观察性前瞻性研究。通过标准问卷进行临床病史、全身及神经系统检查和心理测评，以探究癫痫表现的特征和SE的临床模式。所有纳入患者均需进行长期视频脑电图（EEG）检查和脑部MRI检查。
在2.8±1.1年的随访期内，我们的队列中有21例患者（58.3%）共记录到32次SE发作；其中，15例为惊厥性癫痫持续状态，7例为非惊厥性SE，6例为难治性/超难治性SE，14例患者有婴儿痉挛症（癫痫性痉挛）病史。癫痫持续状态的持续时间为40至150分钟（平均±标准差：90±15）。14例SE患者有严重智力障碍，9例有自闭症谱系障碍，22例有严重的致痫性EEG表现。SE患者的结节数量较多（平均：9.6），5例有室管膜下巨细胞星形细胞瘤，2例在接受依维莫司治疗后发生SE。
我们患者样本中SE的发生率较高（>50%）；严重智力障碍、自闭症特征、婴儿痉挛症（癫痫性痉挛）病史和高结节负荷是发生SE的危险因素。
