30例结节性硬化症患儿临床特征分析

Clinical characteristics of 30 children with tuberous sclerosis

目的分析并总结结节性硬化症(Tuberous sclerosis,TSC)伴癫痫发作患儿临床及视频脑电图(VEEG)特征。方法收集郑州儿童医院2016年1月—2019年5月收治的符合2012年修订的TSC诊断标准的30例TSC患儿的临床资料,其中伴癫痫发作患儿29例。对其皮肤病变、影像学、癫痫发作及长程VEEG特征进行回顾性分析。结果30例患儿,平均年龄(2.88±2.64)岁,男12例,女18例,其中1例腰酸为首发症状,29例以癫痫为首发症状,癫痫发生率较高,且起病年龄多在1岁以内;TSC可对认知造成不同程度的影响;色素脱失或牛奶咖啡斑是低龄儿童最常见的皮肤改变;TSC伴婴儿痉挛症发生率高;<10岁儿童除神经系统病变外可伴有其他器官的病变(1例),但其他器官病变发生率相对较低。TSC伴癫痫发作患儿大多伴EEG异常放电。结论TSC伴癫痫发作临床特点具有多样性,早期诊断是关键。

Objective To analyze and summarize the clinical and video EEG(VEEG)characteristics of tuberous sclerosis(TSC)with epilepsy.Methods Clinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan.2016 to May 2019 in Zhengzhou Children’s Hospital were collected,including 29 children with epileptic seizures.The characteristics of skin lesions,imaging,seizures and long-term VEEG were analyzed retrospectively.Results The mean age was(2.88±2.64),12 males and 18 females,1 case of lumbar acid as the first symptom,29 cases with epilepsy as the first symptom,the incidence of epilepsy is high,and the onset age is less than 1 year old;TSC can cause different degrees of cognitive impact;depigmentation or milk coffee spots are the most common skin changes in young children;TSC with infantile spasm has a high incidence;children younger than 10 years old may have lesions of other organs except nervous system lesions.However,the incidence of other organ lesions was relatively low.Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.Conclusion The clinical characteristics of TSC with epileptic seizures are various,and early diagnosis is of great significance.