BLUE RUBBER BLEB NEVUS SYNDROME IN A 7-YEAR-OLD CHILD TREATED WITH LOOP LIGATION FACILITATED BY DOUBLE-BALLOON ENTEROSCOPY

Introduction:

Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare systemic vascular disorder characterised by multiple cutaneous and gastrointestinal venous malformations. Patients present with fatigue, iron deficiency anaemia (IDA) and occult or overt gastrointestinal (GI) bleeding. Patients are usually treated with conservative management including iron supplementation and blood transfusions. However, endoscopic (argon plasma coagulation, sclerotherapy, polypectomy, band ligation etc), radiological and surgical approaches are preferred for severe cases.

Aims and Methods:

A 7-year-old female patient with iron deficiency anaemia and multiple cutaneous lesions was diagnosed with BRBNS at a local hospital. The patient was referred to our institution for further management due to blood transfusions dependence and PR bleeding. A small bowel capsule endoscopy (SBCE) revealed two vascular lesions in the small bowel.

Results:

An anterograde double-balloon enteroscopy (DBE) was the performed under general anaesthesia. Two 20 mm vascular lesions were identified in the gastric body. A loop ligating device (Olympus, Tokyo, Japan) was applied around the base of each lesion then tightened and completely detached. No further vascular malformations were found in the duodenum, jejunum and proximal ileum. Although the number of units of blood transfusion decreased over the next 6 months a follow-up retrograde DBE was performed due to persistent anaemia. Six lesions were identified in the transverse colon (2), caecum (1) and distal ileum (3). Ligation loop was used for 2 colonic lesions while two ileac rubber blub lesions were treated with both ligation loop and metallic clips. Since the 2 remaining lesions were flat and floppy, loop ligation was not technically feasible. No immediate and post procedural complications (including delayed bleeding) occurred.

Conclusion:

DBE facilitated loop ligation appears to be a safe and minimally invasive option in patients affected by BRBNS reducing the blood transfusion dependence.