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

Abstract

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.

Keywords

• bannayan-rilay-ruvalcaba syndrome
• hamartomatous intestinal polyposis
• lipomas
• lower gastrointestinal bleed
• macrocephaly
• penile lentiginosis