Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2021; 9(23): 6929-6934
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6929
Sirolimus treatment for neonate with blue rubber bleb nevus syndrome: A case report
Si-Si Yang, Ming Yang, Xiao-Jie Yue, Jin-Fa Tou
Si-Si Yang, Jin-Fa Tou, Department of Neonatal Surgery, The Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Ming Yang, Xiao-Jie Yue, Department of Burn and Plastic Surgery, The Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Author contributions: All authors conceptualized and designed the study; Yang SS and Yang M designed the data collection instruments, collected the data, carried out the initial analyses, and drafted the initial manuscript; Yue XJ and Tou JF coordinated and supervised data collection, and reviewed and revised the manuscript.
Informed consent statement: The study was approved by the Institutional Review Board of the Children’s Hospital, Zhejiang University School of Medicine (approval number 2021-IRB-028). Written informed consent was obtained from the mother of the patient for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jin-Fa Tou, PhD, Chief Doctor, Professor, Department of Neonatal Surgery, The Children’s Hospital, Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou 310000, Zhejiang Province, China. toujinfa@zju.edu.cn
Received: May 6, 2021
Peer-review started: May 6, 2021
First decision: June 6, 2021
Revised: June 7, 2021
Accepted: June 22, 2021
Article in press: June 22, 2021
Published online: August 16, 2021
Processing time: 91 Days and 9.5 Hours
Abstract
BACKGROUND

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.

CASE SUMMARY

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/m2/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.

CONCLUSION

This case highlights the dosing regimen and plasma concentration in neonates, for the current common empiric dose is high.

Keywords: Cutaneous hemangioma; Vascular malformation; Sirolimus; Rapamycin; Blue rubber bleb nevus syndrome; Case report

Core Tip: Sirolimus is considered as a first-line drug in treating patients with blue rubber bleb naevus syndrome currently. We present herein successful, long-term treatment of blue rubber bleb naevus syndrome with sirolimus in an infant with the youngest age reported. This case highlights two aspects: The recommended doses of 0.1 mg/kg/d resulted in a plasma concentration that was far beyond the expected 10-15 ng/mL in neonates, and a high plasma concentration of more than 20 ng/mL is associated with a great improvement in the condition. Thus, the dosing regimen and plasma concentration are special in neonates.