摘要
目的探讨结节性硬化症(TSC)神经系统损害的临床特点。方法回顾性分析35例TSC患儿的临床资料。结果本组患者中,智力低下23例,其中轻度智力障碍13例(37.1%),中-重度智力障碍10例(28.6%);癫痫发作33例(94.3%);孤独症样表现10例(28.6%)。脑电图检查均异常,主要表现为慢波增多、癫痫样放电,多为全导出现,两侧波幅明显不对称。CT检查均发现大小不等的钙化灶或高密度影;MRI主要表现为脑内多个大小不等的片状及结节状短T1、T2异常信号;Flair呈高信号。经抗癫痫治疗,癫痫发作控制18例。癫痫发作没有控制的患儿中-重度智力障碍率(46.7%)及合并孤独症表现的比率(44.4%)显著高于癫痫发作控制良好的患儿(16.7%,11.7%)(均P<0.01)。随访结束时,智商与随访前差异无统计学意义;5例患儿的脑电图恢复正常,14例好转。结论 TSC的神经系统损害以癫痫发作和智力障碍为主,部分伴孤独症行为。经治疗和年龄增长部分患儿的癫痫可得到控制,但智力无明显改善。
Objective To investigate the clinical features of tuberous sclerosis complex （TSC） with nervous system injury. Methods The clinical data of 35 TSC children were analyzed retrospectively. Results In this group, there were mental retardation in 23 cases, including 13 cases （37. 1% ） with mild mental retardation, 10 cases （28.6%） with moderate and severe mental retardation; seizure in 33 cases （94.3%） ; autism-like performance in 10 cases （28.6%）. EEG were abnormal in all of them. The main manifestations were slow wave increased, epileptic discharge. Most of them was full-wire, and the amplitude for bilateral sides was significant un-symmetried. CT was showed that there were unequal calcification foci or high density shadow; MRI was showed that there were unequal patchy or nodular short T1 , T2, and high signal on Flair. After antiepileptic therapy, the seizure was controlled in 18 cases. The rates of moderate and severe mental retardation in whose seizure uncontrolled and combined with autism behavior （44.4%） in cases with seizure poorly controlled were significantly higher than those in cases with seizure controlled （16.7%, 11. 7% ） （all P 〈0. 01 ）. End of the follow-up, average IQ in this group was no significance chang, the EEG was recovered normal in 5 cases, improved in 14 cases. Conclusions The main clinical manifestations of the damage in nervous system of TSC are seizures and mental retardation, and part of them has autism behavior. After treating and with age growing, the seizure can be controlled in part of TSC patients, but mental retardation can not be significantly improved.
出处
《临床神经病学杂志》
CAS
北大核心
2012年第4期247-249,共3页
Journal of Clinical Neurology
关键词
结节性硬化症
癫痫
智力障碍
孤独症
tuberous sclerosis
epilepsy
mental retardation
autism
