Ehlers-Danlos综合征患儿运动障碍与遗传和病理特征的初步探讨  

Clinical, Genetic and Pathological Studies of Movement Developmental Disorders in Children with Ehlers-Danlos Syndrome

作　　者：韩春锡[1] 江贤萍[1] 周琳瑛[2] 刘文晴[1] 廖建湘[1] 

机构地区：[1]深圳市儿童医院儿科研究所,518026 [2]福建医科大学基础医学院病理学系电镜室,350004

出　　处：《中国临床神经科学》2013年第3期331-335,352,共6页Chinese Journal of Clinical Neurosciences

基　　金：深圳市儿童重症疾病诊断实验室研究项目(编号:20128661)

摘　　要：目的探讨Ehlers-Danlos综合征的运动发育障碍、遗传、皮肤-骨骼肌病理特征。方法对1例经典型Ehlers-Danlos综合征患儿的病史、临床表现、基因检测、病理特征和随访2年结果进行回顾性分析。结果 Ehlers-Danlos综合征患儿表现为皮肤弹力增加,关节伸展过度,四肢肌张力减低,运动发育明显延迟。然而,随着年龄的增加,运动状态逐渐得到改善。皮肤病理改变为真皮层变薄,胶原纤维数量减少、排列疏松、紊乱,弹力纤维数量增多并呈颗粒状纤维断裂改变;电镜见胶原纤维大小不等;COL5A1基因的22号内含子发生剪切突变c.2133+1G.>A。结论早期诊断Ehlers-Danlos综合征和保护关节功能对患儿的运动发育非常重要。Aim To investigate the clinical, genetic and pathological teatures syndrome. Methods A classic case of Ehlers-Danlos syndrome was analyzed retrosepctively by clinical, genetic and pathological features and follow-up for two years. Results The patient showed increased skin elasticity, joint hyperextension, limbs, reduced muscle tension, significantly delayed motor development milestones. However, with the increase of age, motion state was improved. Skin biopsy showed dermal attenuation, the number of collagen fibrils dropping with chaotic array. Special staining demonstrated the increase and rupture of elastic fibers. Electron microscopy showed heterogeneity in size of the collagen fibers. The COL5A 1 gene intron shear mutation c.2 133＋1G〉A. Conclusion Early diagnosis of the Ehlers-Danlos syndrome and protection of joint function are important for children＇s motor development.

关 键 词：Ehlers—Danlos综合征 皮肤弹性过度 关节伸展过度 运动发育障碍 基因突变 病理 

分 类 号：R729[医药卫生—儿科]