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目的通过对结节性硬化症(Tuberous sclerosis complex,TSC)继发癫痫患者临床特点分析,提高临床医生对该病的认识和诊治水平,改善患者预后。方法 2012年5月-2015年5月收集54例TSC继发癫痫患者的病例资料,并对其一般资料、临床表现、脑电图(EEG)、影像学检查以及治疗预后等相关资料进行回顾性分析及随访,并总结TSC继发癫痫患者的临床特点。结果患者癫痫初发年龄不同,以及是否合并痉挛发作在智能减退上的比较差异有统计学意义(P<0.05),不同性别、有无皮肤损害、发作类型的种数在患者智能减退上的比较差异无统计学意义(P>0.05);不同性别、不同癫痫初发年龄在患者是否伴有痉挛发作上的比较差异有统计学意义(P<0.05),有无家族史、皮肤损害、发作类型的种数在患者是否伴有痉挛发作上的比较差异无统计学意义(P>0.05);不同智能发育情况在用药方案上的比较差异有统计学意义(P<0.05),不同性别、癫痫初发年龄、有无家族史、皮肤损害、是否合并痉挛发作以及发作类型的种数在用药方案选择上的比较差异无统计学意义(P>0.05)。结论癫痫是TSC最常见的神经系统表现,多在婴幼儿期发病,发作类型多样,可合并皮肤损害及智能减退,EEG及头部影像学检查阳性率高,癫痫发作不易控制,需长期随访并及时调整治疗方案。TSC继发癫痫患者的智能水平与癫痫初发年龄、是否合并痉挛发作有关;TSC患者是否伴有痉挛发作与患者性别及癫痫初发年龄有关;TSC继发癫痫患者用药方案与患者智能发育情况有关。
Objective To analyze the clinical features of patients with epilepsy secondary to tuberous sclerosis complex (TSC), and to improve clinicians’ understanding and diagnosis and treatment of the disease and improve their prognosis. Methods From May 2012 to May 2015, 54 cases of TSC with secondary epilepsy were collected and retrospectively reviewed about the general information, clinical manifestations, EEG, imaging examination and treatment prognosis Analysis and follow-up, and summarize the clinical features of patients with secondary epilepsy TSC. Results The onset age of patients with epilepsy was different, and whether there was a significant difference in the patients with combined spastic seizures (P <0.05). The number of patients with different gender, with or without skin lesions, seizure types in patients with mental retardation compared There was no significant difference between the two groups (P> 0.05). There were significant differences in age at onset of onset of epilepsy between different genders and different epilepsy patients with or without spasticity (P <0.05), with or without family history, skin lesions, There was no significant difference in the number of patients with spasmodic seizures (P> 0.05). There was significant difference in the medication regimen between different intelligence development (P <0.05) There was no significant difference in the choice of medication regimen between age of onset, family history, skin lesions, spasms of seizures and seizure types (P> 0.05). Conclusion Epilepsy is the most common neurological manifestation of TSC. It mostly occurs in infants and young children. It has many types of seizures, combined with skin lesions and degenerative diseases. The positive rate of EEG and head imaging is high, the epileptic seizures are not easy to control and need long-term follow-up Timely adjustment of treatment options. TSC secondary epilepsy patients with intelligence and age of onset of epilepsy, whether the merger spasm; TSC patients with spasm or seizure associated with the patient’s gender and age of onset of epilepsy; TSC secondary epilepsy medication program and the patient’s intelligence development .