Yang Si-Si, Yang Ming, Yue Xiao-Jie, Tou Jin-Fa
Department of Neonatal Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China.
Department of Burn and Plastic Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China.
World J Clin Cases. 2021 Aug 16;9(23):6929-6934. doi: 10.12998/wjcc.v9.i23.6929.
Blue rubber bleb naevus syndrome (BRBNS) is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract. Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia. The successful management of BRBNS with sirolimus had been reported in many institutions, due to its impact on signaling pathways of angiogenesis. However, the experience in treatment of neonates with BRBNS was limited.
A 38-day-old premature female infant born with multiple skin lesions, presented to our center complaining of severe anemia and hematochezia. Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver. She was diagnosed as having BRBNS based on typical clinical and examination findings. The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate. A review of BRBNS case reports found that patients had been successfully treated with sirolimus. Then the patient was treated with sirolimus at an average dose of 0.95 mg/m/d with a target drug level of 10-15 ng/mL. During 28 mo of treatment, the lesion was reduced, hemoglobin returned to normal, and there were no adverse drug reactions.
This case highlights the dosing regimen and plasma concentration in neonates, for the current common empiric dose is high.
蓝色橡皮疱痣综合征（BRBNS）是一种罕见疾病，通常表现为皮肤和胃肠道的多发静脉畸形。位于胃肠道的病变常导致慢性胃肠道出血和严重贫血。由于西罗莫司对血管生成信号通路有影响，许多机构已报道其成功用于治疗BRBNS。然而，新生儿BRBNS的治疗经验有限。
一名38日龄早产女婴出生时即有多处皮肤病变，因严重贫血和便血就诊于我院。实验室检查显示血红蛋白为5.3 g/dL，腹部增强CT显示肝脏右叶有多个低密度占位性病变。根据典型的临床和检查结果，她被诊断为BRBNS。该患者接受了两次输血及止血药物治疗，但贫血症状难以缓解。查阅BRBNS病例报告发现，患者已成功接受西罗莫司治疗。随后该患者接受西罗莫司治疗，平均剂量为0.95 mg/m/d，目标药物水平为10 - 15 ng/mL。在28个月的治疗期间，病变缩小，血红蛋白恢复正常，且未出现药物不良反应。
该病例突出了新生儿的给药方案和血药浓度，因为目前常用的经验性剂量较高。
