南疆首例维吾尔族Bardet-Biedl综合征患儿诊治分析

Clinical analysis of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang

目的调查分析南疆首例维吾尔族Bardet-Biedl综合征患儿的临床特点,总结诊治经验。方法对患儿进行病史采集,体格检查,实验室检查,影像学检查等,请儿科,骨外科,麻醉科,眼科,口腔科,放射科等多学科联合会诊以协助诊断。结果多科会诊后确定患儿存在支气管肺炎,肥胖,智力低下,12,22,32,42切牙缺失,DⅠ乳牙滞留,双手6指畸形,双足6趾畸形,阴茎短小,夜盲,视网膜色素变性,高度近视等问题。结论患儿确诊为Bardet-Biedl综合征,检索中外文文献,南疆地区未见本病的报道。我们首次在南疆地区报道了罕见的Bardet-Biedl综合征患儿。目前该病尚无根治方法,主要给以对症治疗,提高其生活质量。

Objective To investigate the clinical characteristics of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang,and summarize the experiences on diagnosis and therapy. Methods The data on medical history,physical examination,laboratory examination and imaging examination were collected.Department of pediatrics,orthopedics,anesthesiol-ogy,ophthalmology,stomatology and radiology all took part in the consultation. Results After multi-discipline consultation, the child was proved to be suffered with bronchopneumonia,obesity,mental retardation,absence of 1 2,22,32,42 incisors,DⅠdeciduous tooth retention,Polydactyly （six fingers）of both hands and feet,microcaulia,night blindness,retinitis pigmento-sa,and high myopia. Conclusion Based on the history and clinical presentation,the child was diagnosed with Bardet-Biedl syndrome.After retrieving literature database in English and Chinese,we found out that there is no report on Bardet-Biedl syn-drome in southern Xinjiang previously.Thus,we report the first Uyghur case of Bardet-Biedl syndrome in this area.Nowadays, there is no method to cure this disease totally,and symptomatic treatment could improve the patient＇s living condition partially.