53例儿童结节性硬化皮肤及神经系统病变的临床特征分析

目的 总结儿童结节性硬化皮肤和神经系统病变的临床特征,提高早期诊断率。 方法 回顾性分析2010年1月至2014年12月收治的53例诊断明确的结节性硬化患儿的临床资料,总结其皮肤和神经系统病变的临床特征。 结果 大多数结节性硬化患儿在婴幼儿期起病(40/53,75.5%),皮肤损害以面部血管纤维瘤(42/53,79.2%)、色素脱失斑(38/53,71.7%)及咖啡斑(16/53,30.2%)为主。神经系统病变主要有癫痫发作、智力低下、神经影像及脑电图检查异常。51例有癫痫发作,发作形式主要有婴儿痉挛(16/53,30.2%)、全面强直阵挛(18/53,34.0%)、肌阵挛(13/53,24.5%)等,同一患儿可有多种形式的发作。神经影像检查(CT或MRI)以大脑皮质结节(18/53,34.0%)、皮质下结节(13/53,24.5%)、室管膜下结节(50/53,94.3%)为主;多数患者伴有不同程度的EEG异常。 结论 结节性硬化皮肤和神经系统病变的发生率高,多在婴幼儿期发病。

Analysis of cutaneous and neurologic features in 53 cases of children with tuberous sclerosis complex

Objective To investigate the clinical features of cutaneous lesions and nervous system in children with tuberous sclerosis complex (TSC) so as to improve its early diagnosis. Methods We collected and retrospectively analyzed the clinical data of 53 cases of TSC patients, which ever treated in our hospital from Jan 2010 to Dec 2014, and summerized the clinical features of cutaneous lesions and nervous system of these TSC patients. Results Most TSC patients were developed and diagnosed in their infancy (40/53, 75.5%), and the main cutaneous lesions were facial angiofibromas (42/53, 79.2%), hypomelanotic macules (38/53, 71.7%) and coffee spots (16/53, 30.2%). The nervous system manifestions were epilepsy, mental retardation, abnormal findings in CT and/or MRI and EEG. 51 cases experienced epileptic seizures, which included infant spasm (16/53, 30.2%), GTCS (18/53, 34.0%) and myoclonus (13/53, 24.5%), and the epileptic seizures in the same child could be various. The common nervous system findings of TSC patients were cortical tubers (18/53, 34.0%), subcortical tubers (13/53, 24.5%) and subependymal nodules (50/53, 94.3%). A majority of patients had abnormity of EEG. Conclusion Cutaneous lesions and nervous system manifestations are common and complex in TSC children and mostly occur in their infancy.