蓝橡胶水泡痣综合征:儿童慢性胃肠道出血的罕见原因

S. Saxena, Himanshu Batra, V. Taneja
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摘要

蓝橡胶水泡痣综合征(BRBNS)是一种罕见的先天性疾病,表现为皮肤,软组织和胃肠道的多灶静脉畸形。在这里,我们报告一个10岁的女孩,她表现为复发性下消化道出血和腹痛,需要反复输血2年。对比计算机断层扫描显示肝脏多发海绵状血管瘤,食管、胃十二指肠镜和结肠镜显示从食管到大肠多发血管瘤。分子病理学证实为BRBNS。她接受了内窥镜氩等离子凝固治疗,恢复正常。尽管文献中描述了多种治疗BRBNS的方法,但包括手术切除在内的现有治疗方法的疗效尚未得到很好的证实。
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Blue rubber bleb nevus syndrome: A rare cause of chronic gastro intestinal bleed in children
Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Here, we report a case of a 10-year-old girl who presented with recurrent lower GI bleeding and abdominal pain requiring repeated blood transfusion for 2 years. A contrast computed tomography showed multiple cavernous haemangiomas in the liver, oesophagogastroduodenoscopy and colonoscopy showed multiple hemangiomas from esophagus to large bowel. Her molecular pathology confirmed BRBNS. She underwent endoscopic argon plasma coagulation with uneventful recovery. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.
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