Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder caused by germline mutations in the phosphatase and tensin homolog (PTEN) gene. Clinical manifestations arise early during childhood and include multiple lipomas, hamartomatous intestinal polyps, macrocephaly, developmental delay, and autism spectrum disorder among others. The case describes a 24-year-old female with a recent diagnosis of BRRS who presented for evaluation of burning epigastric pain for the previous six months. The esophagogastroduodenoscopy (EGD) and colonoscopy revealed an erosive gastric mucosa as well as numerous polyps throughout the gastrointestinal tract. Histopathologic examination confirmed gastric Helicobacter pylori infection and different histologic types of polyps.

Keywords: bannayan-riley-ruvalcaba syndrome; colonoscopy; cowden syndrome; gastroenterology and endoscopy; general gastroenterology; hamartomatous polyp; polyposis; pten gene mutation.