Case Report: Combination of sirolimus and endoscopic lauromacrogol sclerotherapy in the management of blue rubber bleb nevus syndrome with gastric tract bleeding

Lu Liu; Liyuan Wang; Fan Hu

doi:10.3389/fped.2024.1488466

Case Report: Combination of sirolimus and endoscopic lauromacrogol sclerotherapy in the management of blue rubber bleb nevus syndrome with gastric tract bleeding

Front Pediatr. 2025 Jan 10:12:1488466. doi: 10.3389/fped.2024.1488466. eCollection 2024.

Authors

Lu Liu^#^{1

2}, Liyuan Wang^#^{2

3}, Fan Hu^{1

2}

Affiliations

¹ Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
² Key Laboratory of Birth Defect and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
³ Department of Pediatric Ganstroenterology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

^# Contributed equally.

Abstract

Background: 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.

Case summary: 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.

Conclusion: 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.

Keywords: blue rubber bleb nevus syndrome; endoscopy; lauromacrogol; sclerotherapy; sirolimus; venous malformation.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The study was supported by the Research and Development Project of Sichuan Provincial Science and Technology Department (2022FYS0026) and the Natural Science Project of Sichuan Provincial Science and Technology Department (24NSFSC8042).