Published online Mar 16, 2021. doi: 10.4253/wjge.v13.i3.90
Peer-review started: November 4, 2020
First decision: December 18, 2020
Revised: January 1, 2021
Accepted: January 28, 2021
Article in press: January 28, 2021
Published online: March 16, 2021
Processing time: 125 Days and 0.7 Hours
Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disease, difficult to diagnose and choose a treatment method, especially in young children. There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients, in general. The literature on BRBNS cases is limited and presents various therapeutic approaches.
We present here a case of BRBNS involving a 4-year-old female, whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam. Skin lesions, typical for BRBNS, appeared on the 8th d of the child’s life and their number increased over the next several months. The child also experienced episodes of critical decrease in hemoglobin level (by as much as 52 g/L) for several years, requiring iron supplementation and several blood transfusions. Video capsule endoscopy revealed numerous vascular formations in the small bowel. The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis. Single-balloon enteroscopy was used to perform sclerotherapy, with aethoxysklerol foam. A positive effect was observed within 19 mo of follow-up. We continue to monitor the patient’s hemoglobin level, every 2 wk, and it has remained satisfactory (> 120 g/L).
Endoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children.
Core Tip: In blue rubber bleb nevus syndrome (BRBNS), vascular malformations can affect any organ in the body but skin and gastrointestinal tract are the most frequent. Skin venous malformations have been observed in patients with BRBNS since childhood, with number and size of lesions increasing through time. Gastrointestinal lesions also occur at an early age and provoke gastrointestinal bleeding, leading to anemia. Treatment of the clinical manifestations of BRBNS can be carried out by endoscopic, pharmacological or surgical approaches. We present here a BRBNS case in a young child, treated by sclerotherapy with aethoxysklerol foam applied during single-balloon enteroscopy.