伴癫痫发作的结节性硬化症患儿临床与脑电图特征分析

Clinical features and electroencephalogram characteristics of tuberous sclerosis complex in children with epilepsy

目的 探讨伴有癫痫发作的结节硬化症(Tuberous sclerosis complex,TSC)患儿的临床、影像及脑电图(EEG)特征.方法 回顾分析2013年1月-2015年10月江西省儿童医院收治合并癫痫发作的TSC住院患儿的临床病历资料,整理和分析其临床和EEG特征.结果 26例患儿21例有皮肤病变,占80.77%,色素脱落斑10例,咖啡牛奶斑7例,颜面部纤维瘤4例,各年龄组比较,差异无统计学意义.8例(30.77%)癫痫发作表现为痉挛发作,其中3例病初有部分性发作;10例(38.46%)表现为复杂部分性发作;5例(19.23%)为部分泛化全面发作;2例(7.69%)为强直-阵挛发作;1例(3.85%)为Lennox-Gastaut综合征.痉挛发作组较其他发作组癫痫发作年龄小(t=2.143,P =0.042).EEG监测发现7例(26.92%)呈高度失律背景活动,11例(42.31%)为局灶放电,5例为多灶放电,2例背景活动慢,1例基本正常;头颅影像学发现侧脑室下结节最为多见,共25例,占96.15%.结论 TSC患儿临床表现和癫痫发作形式多样,具有一定年龄依赖性,加强对不同年龄TSC临床特征和相关风险因素认识有助于早期诊断.

Objective To probe the clinical features and the characteristics of radiography and electroencephalogram(EEG)of tuberous sclerosis complex(TSC)in children with epilepsy.Methods The clinical data of the TSC cases with epilepsy were collected from inpatients in Jiangxi Children’s Hospital from Jan.2013 to Oct.2015.Results Among the 26 cascs,21 cases(21/26,80.77%)involved abnormalities of the skin.Of these patients,there were 10 cases with hypomelanotic macules,7 cases with cafe au lait spots and 4 cases with facial angiofibromas.There were no significant difference among the different age groups.In addition,there were 8 cases(8/26,30.77%)with spasm seizures,of whom 3 cases had partial seizure,10 cases(10/26,38.46%)with complex partial seizure,5 cases(5/26,19.23%)with secondary generalized seizure,2 cases(2/26,7.69%)with tonic-clonic seizure and one case with Lennox-Gastaut syndrom(1/26,3.85%).The average onset age of the epileptic spasms group were younger than those of the other epilepsy groups(1=2.143,P=0.042).EEG monitoring demonstrated hypsarrhythmia in 7 cases(7/26,26.92%)in the interictal EEG,focal epileptic discharges in 11 cases(11/26,42.31%),multifocal discharges in 5 cases,the slow background activity in 2 cases and the normal EEC in one case.Cranial imaging demonstrated subependymal nodules(SEN)in 25 cases(25/26,96.15%)was the most common.Conclusion The elinical manifestations and seizure types of TSC in children,especially in infants and young children,were diverse and age-dependent.It was very important to improve understanding of the clinical features and related risks of TSC at various ages,which was helpful to diagnose TSC early.