Bannayan-Rilay-Ruvalcaba syndrome presenting with recurrent lower gastrointestinal bleed: A Case Report and a review of the literature

Bannayan-Rilay-Ruvalcaba syndrome (BRRS) is a rare congenital disorder, characterized by macrocephaly, hamartomas, lipomas, and genital lentiginosis with or without PTEN gene mutations. We report a case of BRRS in a 12-year-old male child with recurrent bleeding per rectum with hamartomatous intestinal polyposis involving whole colon and few polyps in stomach and first part of duodenum; small subcutaneous lipomas over left lumber area. In addition patient had macrocephaly, cutaneous hyperpigmentation with lentiginosis, and pigmented freckles on the external genitalia. Bleeding polyps were removed with snare polypectomy. Patient was put on iron supplements and is on regular follow-up

Diagnostic role of capsule endoscopy in patients of obscure gastrointestinal bleeding after negative CT enterography

Background and Objectives: Computed tomographic enterography (CT-EG) has emerged a useful tool for the evaluation of small bowel in patients of obscure gastrointestinal bleeding (OGIB). However, CT-EG may be negative in about 50-60% of patients. We aimed to see the efficacy of capsule endoscopy (CE) in patients of OGIB, who had initial negative CT-EG. Materials and Methods: All consecutive patients of OGIB after initial hemodynamic stabilization were subjected to CT-EG. Those having negative CT-EG were further evaluated with CE. Results: Fifty-five patients of OGIB with mean standard deviation age, 52.7 (19.0), range 18-75 years, women 31/55 (56.4%) were subjected to CT-EG. Nine (17.6%) patients had positive findings on CT-EG, which included mass lesions in six, thickened wall of distal ileal loops, narrowing, and wall enhancement in two and jejunal wall thickening with wall hyperenhancement in one patient. Forty-two patients had negative CT-EG of which 25 underwent CE for further evaluation. CE detected positive findings in 11 of 25 (48%) patients which included vascular malformations in three, ulcers in seven, and fresh blood without identifiable source in one. The diagnostic yield of CE in overt OGIB was more compared to occult OGIB ((7/14, 50%) vs (4/11, 36.4%) P = 0.2) and was higher if performed within 2 weeks of active gastrointestinal (GI) bleed (P = 0.08). Conclusions: In conclusion, CE is an additional tool in the evaluation of obscure GI bleed, especially mucosal lesions which can be missed by CT-EG