Chen Liang-Chun, Yeung Chun-Yan, Chang Chen-Wang, Lee Hung-Chang, Chan Wai-Tao, Jiang Chuen-Bin, Chang Szu-Wen
Department of Pediatrics, Taipei Hospital, Ministry of Health and Welfare, New Taipei City 242, Taiwan.
Department of Medicine, MacKay Medical College, New Taipei City 252, Taiwan.
Children (Basel). 2022 Dec 20;10(1):3. doi: 10.3390/children10010003.
Refractory anemia is not uncommon in pediatric patients, and anemia caused by gastrointestinal tract bleeding should always be kept in mind. Aside from infection or intestinal malrotation related bleeding, vascular malformation should also be considered. Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multiple venous malformations. Lack of experience in pediatric BRBNS might lead to delayed diagnosis or misdiagnosis. Herein, we report a case of an eleven-year-old boy with recurrent pallor appearance and weakness diagnosed with BRBNS. After a thorough examination, he was treated with endoscopic polypectomy, and further iron supplements and folic acid. He is now under regular follow-up at our outpatient department. No complication is noted for six months. BRBNS is a rare venous malformation syndrome that mostly involves skin and the gastrointestinal tract. Multidisciplinary approach should be arranged for diagnosis and management. Up to date, no consensus for BRBNS treatment has been reached. Management usually depends on clinical symptoms and severity of damage of involved organs. The options of treatment include conservative, medical, endoscopic, and surgical management.
难治性贫血在儿科患者中并不罕见,应始终牢记由胃肠道出血引起的贫血。除了感染或与肠旋转不良相关的出血外,血管畸形也应予以考虑。蓝色橡皮疱痣综合征(BRBNS)是一种罕见的血管疾病,由多个静脉畸形组成。儿科BRBNS经验不足可能导致诊断延迟或误诊。在此,我们报告一例11岁男孩,反复出现面色苍白和虚弱,诊断为BRBNS。经过全面检查后,他接受了内镜下息肉切除术,并进一步补充铁剂和叶酸。他现在在我们门诊部定期随访。六个月来未发现并发症。BRBNS是一种罕见的静脉畸形综合征,主要累及皮肤和胃肠道。应安排多学科方法进行诊断和管理。迄今为止,尚未就BRBNS的治疗达成共识。治疗通常取决于临床症状和受累器官的损伤严重程度。治疗选择包括保守治疗、药物治疗、内镜治疗和手术治疗。