ɫ��ʧ��֢15���ٴ��о�

目的总结色素失禁症患儿临床特征,特别是皮肤、神经系统、眼部、基因改变的特点,提高对该病的认识。方法对1994~2004年首都儿科研究所附属儿童医院收治的色素失禁症患儿15例进行临床多方面检查分析,并进行追踪随访,其中7例患儿接受基因检测。结果15例患儿均有皮肤受累;神经系统受累10例:10例中发生癫5例,其中合并脑积水2例,均死亡,表现有智力发育落后6例;眼部受累6例:视神经萎缩2例,先天白内障1例,视网膜发育不良1例,斜视2例;接受基因检测的7例中5例的NEMO基因的共有序列NEMOΔ4~10缺失。结论色素失禁症患儿皮肤改变显著,眼部及神经系统病变严重,应得到早期诊断治疗。

Clinical study of 15 cases of incontinentia pigmenti

??To summarize the manifestations of incontinentia pigmenti??especially the characteristics in skin,nerve system,eyes and gene mutations.MethodsFifteen cases of incontinentia pigmenti in our hospital from 1994 to 2004 were enrolled in this study.Their clinical characteristics were studied in several aspects,and some of the cases were followed up for several years.The genes of 7 cases were analyzed in this study.ResultsThe dermatological manifestations were present in all the 15 cases of incontinentia pigmenti.Ten cases had neurological involvement.Of the 10 cases whose nerve system involved,5 suffered from epilepsy,2 of them were complicated with hydrocephalus and dead in infant,and 6 of the 10 cases had mental retardation.There were 6 of 15 cases present with different eye defects:2 with optic nerve atrophy,1 with congenital cataract,1 with retinal dystrophy,and 2 with strabismus.5 of the 7 studied cases had NEMO??4~10 gene segment deletion in their NEMO gene.ConclusionThe dermatological manifestations are prominent in incontinentia pigmenti,and the involvement in nerve system and eyes is severe.It should be diagnosed and managed properly soon after birth.