Blue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy

Blue rubber bleb nevus syndrome (BRBNS), also called Bean syndrome, is a rare disease associated with multiple venous malformations essentially in the skin and the gastrointestinal (GI) tract [1] [2]. It commonly presents with anemia and patients respond to supportive measures, but severe symptoms may be treated by surgical resection, endoscopic sclerotherapy, and laser photocoagulation [3] [4].

We report here a case of BRBNS presenting with GI bleeding in a 9-year-old boy who was first diagnosed at the age of 1, with a venous angioma in the knee. The onset of melena led to a complete exploration of the upper and lower GI tract, and capsule endoscopy, which revealed several typical blue lesions in the stomach ([Fig. 1 a, b]), small bowel ([Fig. 2]), and colon ([Fig. 1 c]).

Fig. 1 Endoscopic view of the angiomas. a Gastric antral lesion. b Gastric pre-pyloric lesion. c Colonic lesion.

Fig. 2 Capsule endoscopic views of angiomas in the small bowel.

Gastric and colonic lesions were first treated with argon plasma coagulation ([Fig. 3]) in the pediatric hospital. The patient was then referred to our unit for double-balloon enteroscopy (EN-580T; Fujifilm, Tokyo, Japan), through which we could identify five pedunculated lesions and four flat friable ones. The progression of the endoscope was difficult owing to the small size of the intestinal loops; however, successful sclerotherapy of the lesions was achieved by injecting aetoxisclerol ([Video 1]). Apart from these angiomas, no further lesions required treatment, according to capsule endoscopy. The patient did not experience any new bleeding after this treatment.

Fig. 3 The lesions after treatment with argon plasma coagulation. a Gastric antral lesion. b Gastric pre-pyloric lesion. c Colonic lesion.

Video 1 Video capsule endoscopy diagnosis and double-balloon endoscopic sclerotherapy of gastrointestinal angiomas.

In conclusion, BRBNS is rare but the diagnosis has to be considerd when typical lesions are seen in different areas. Double-balloon enteroscopy using an adult enteroscope appears to be feasible in children, but progression is probably more difficult in a small-diameter bowel. As previously demonstrated, aetoxisclerol seems to be effective for the treatment of lesions with low risk of perforation.

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• References

• 1 El Bakkaly A, Ettayebi F, Oubeja H. et al. Bean’s syndrome in children: about two cases. Article in French. Pan Afr Med J 2017; 28: 102
• 2 Arena M, Virdis M, Morandi E. et al. Blue rubber bleb nevus syndrome: combined surgical and endoscopic treatment. Endoscopy 2015; 47 (Suppl. 01) E372-E373
• 3 Jin XL, Wang ZH, Xiao XB. et al. Blue rubber bleb nevus syndrome: a case report and literature review. World J Gastroenterol 2014; 20: 17254-17259
• 4 Tang X, Gao J, Yang X. et al. A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: a case report and literature review. Medicine (Baltimore) 2018; 97: e10873