蓝色橡皮疱痣综合征1例并文献复习  

Blue rubber bleb nevus syndrome:A case report and literature review

作　　者：袁丹丹 解燕 梁琪[1] YUAN Dandan;XIE Yan;LIANG Qi(Department of Radiology,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院放射科,长沙410013

出　　处：《中南大学学报(医学版)》2024年第10期1706-1710,共5页Journal of Central South University :Medical Science

基　　金：湖南省自然科学基金(2023JJ30828);中南大学学位与研究生教育教学改革项目(2024JGB105)。

摘　　要：蓝色橡皮疱痣综合征(blue rubber bleb nevus syndrome,BRBNS)是一种罕见的先天性临床综合征,主要特征是皮肤、胃肠道、肝脏及肺部等多器官内的静脉畸形。中南大学湘雅三医院2022年6月收治1例罕见的BRBNS患者,患者因腹胀、既往反复便血入院,腹部影像学检查示肝脏及肠道内血管性病变,结肠镜检查显示多发蓝色血管瘤,行对症治疗及西罗莫司治疗后患者症状缓解。BRBNS病例罕见,本报告有助于加深对BRBNS临床表现及诊断的认识。Blue rubber bleb nevus syndrome(BRBNS)is a rare congenital clinical syndrome characterized by venous malformations in multiple organs,including the skin,gastrointestinal tract,liver,and lungs.In June 2022,Third Xiangya Hospital of Central South University admitted a rare case of BRBNS.The patient was hospitalized due to abdominal distension and a history of recurrent hematochezia.Abdominal imaging revealed vascular lesions in the liver and intestines,while colonoscopy demonstrated multiple blue vascular tumors.After symptomatic treatment and sirolimus therapy,the patient’s symptoms were alleviated.Given the rarity of BRBNS cases,this report helps deepen the understanding of the clinical manifestations and diagnosis of BRBNS.

关 键 词：蓝色橡皮疱痣综合征 血管畸形 腹胀 便血 结肠镜检查 

分 类 号：R73[医药卫生—肿瘤]