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Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report
U Aravindan1, R Ganesan2, M Thamarai Kannan3
1Department of SGE, TMCH, Thanjavur, India.
The Indian Journal of Surgery
|July 6, 2018
Summary
Blue rubber bleb nevus syndrome (BRBNS) involves venous malformations in skin and organs, often affecting the GI tract. This case highlights surgical resection for severe rectal bleeding and anemia unresponsive to sclerotherapy.
Area of Science:
- Vascular Malformations
- Gastroenterology
- Rare Diseases
Background:
- Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations and hemangiomas.
- These lesions commonly affect the skin and gastrointestinal tract (GIT), with the small bowel being the most frequent site.
- While often causing slow, chronic blood loss, BRBNS can lead to severe complications like rupture and intussusception.
Purpose of the Study:
- To present a case of BRBNS in a pediatric patient with significant gastrointestinal involvement, specifically the large bowel.
- To discuss the diagnostic and therapeutic challenges in managing BRBNS presenting with rectal bleeding and iron deficiency anemia.
- To evaluate the efficacy of different treatment modalities, including endoscopic sclerotherapy and surgical resection.
Main Methods:
- A case report of a 13-year-old girl with BRBNS involving the large bowel.
- Initial treatment with endoscopic sclerotherapy for bleeding per rectum.
- Subsequent surgical resection due to lack of response to endoscopic therapy.
Main Results:
- The patient presented with bleeding per rectum and iron deficiency anemia secondary to BRBNS.
- Endoscopic sclerotherapy provided no relief from the gastrointestinal bleeding.
- Surgical resection was ultimately required to manage the severe symptoms and complications.
Conclusions:
- BRBNS can present with severe gastrointestinal bleeding, particularly in the large bowel, leading to anemia.
- While supportive care and endoscopic treatments are initial options, surgical intervention may be necessary for refractory cases.
- This case underscores the importance of considering surgical resection for significant BRBNS-related gastrointestinal hemorrhage.
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