论文部分内容阅读
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。
Objective To summarize the clinical features of children with PD, especially the features of the skin, nervous system, eye and gene and to improve the understanding of the disease. Methods Fifteen cases of pigmented incontinence admitted to Children’s Hospital Affiliated to Capital Institute of Pediatrics from 1994 to 2004 were investigated clinically and followed up. Seven of them received genetic testing. Results All the 15 children had skin involvement. Among the 10 patients with nervous system involvement, 5 had epilepsy in 10 cases, of which 2 cases had hydrocephalus. All of them died, with 6 cases of mental retardation and 6 cases of ocular involvement. 2 cases of optic atrophy, 1 case of congenital cataracts, 1 case of retinal dysplasia and 2 cases of strabismus. NEMOΔ4 ~ 10 deletion was found in 5 cases of NEMO gene in 7 cases. Conclusion Children with PD have significant changes in the skin, severe ocular and nervous system diseases and early diagnosis and treatment.