蓝色橡皮疱痣综合征合并室间隔缺损:1例报告

摘要

.The co-occurrence of blue rubber bleb nevus syndrome (BRBNS) and ventricular septal defects is rare.Here we present a case of BRBNS in a 15-year-old boy who was born with multiple cavernous hemangiomas and a ventricular septal defect.Examinations revealed the presence of hemangioma lesions in the subcutaneous and mucosal tissues as well as in the cerebrum,nasopharynx,tongue,esophagus,gastric body,sigmoid colon and adrenal gland.Combined imaging modalities played an important role in the diagnosis of hemangioma lesions.%蓝色橡皮疱痣综合征合并室间隔缺损在临床上非常罕见.我们报道1例15岁患者,该患者以多发海绵状血管瘤为主要表现,同时合并室间隔缺损.多种影像学检查表明,大量的海绵状血管瘤病灶位于皮下组织和口腔粘膜组织,同时在患者大脑、鼻咽部、舌头、食道、胃、乙状结肠和肾上腺均发现血管瘤病灶.多种影像诊断技术的联合应用对病灶的发现具有重要意义.