Liu Lu, Wang Liyuan, Hu Fan
Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Key Laboratory of Birth Defect and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Front Pediatr. 2025 Jan 10;12:1488466. doi: 10.3389/fped.2024.1488466. eCollection 2024.
Blue rubber bleb nevus syndrome (BRBNS) is a rare venous malformation disorder. Currently, there is no standard therapy for this disease. However, lauromacrogol, a sclerosant extensively utilized in the management of vascular malformations, has been applied in the treatment of BRBNS. Research on the combined therapy of sirolimus and lauromacrogol for the treatment of BRBNS remains limited.
Here, we report the case of a 12-year-old girl diagnosed with BRBNS. The patient presented with chronic anemia and skin "hemangioma." The examinations showed severe anemia, along with decreased serum iron and ferritin levels. Magnetic resonance imaging showed abnormal nodular lesions in various parts of the intestine. The patient was treated with a combination of endoscopic sclerotherapy using lauromacrogol and oral sirolimus. After 1 year of treatment, the patient showed no signs of anemia or gastrointestinal tract bleeding.
BRBNS is a rare disorder that is often misdiagnosed, especially by inexperienced pediatricians. The combination of oral sirolimus with endoscopic lauromacrogol has demonstrated efficacy in reducing lesion size and elevating hemoglobin levels.
蓝色橡皮疱痣综合征（BRBNS）是一种罕见的静脉畸形疾病。目前，针对该疾病尚无标准治疗方法。然而，聚桂醇作为一种广泛用于治疗血管畸形的硬化剂，已被应用于BRBNS的治疗。西罗莫司与聚桂醇联合治疗BRBNS的研究仍然有限。
在此，我们报告一例12岁诊断为BRBNS的女孩病例。该患者表现为慢性贫血和皮肤“血管瘤”。检查显示严重贫血，血清铁和铁蛋白水平降低。磁共振成像显示肠道各部位有异常结节性病变。该患者接受了聚桂醇内镜硬化治疗与口服西罗莫司联合治疗。治疗1年后，患者无贫血或胃肠道出血迹象。
BRBNS是一种罕见疾病，常被误诊，尤其是被经验不足的儿科医生误诊。口服西罗莫司与内镜下聚桂醇联合使用已证明在减小病变大小和提高血红蛋白水平方面有效。
