Say What? Bannayan–Riley–Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception
Stanford Multidisciplinary Seminars
Case Presentation and Evolution
A 24-year old male with a history of Bannayan–Riley–Ruvalcaba syndrome (BRRS) and a confirmed phosphatase and tensin homolog deleted on chromosome 10 (PTEN) was evaluated in the emergency department with a 3-day history of lower gastrointestinal bleeding, lightheadedness, and hematocrit of 36.9%, without nausea, hematemesis, or abdominal pain. His medical and surgical history was also significant for bilateral tapered ureteral re-implantation and diverticulectomy for bilateral primary obstructed megaureters, a well-differentiated pT1b pN1a papillary thyroid carcinoma resected at age 18, right palmar arteriovenous hemangioma requiring resection at age 20, and numerous subcutaneous lipomata, the largest of which was 19 × 23 cm, requiring resection. He was admitted to the hospital, evaluated by the gastroenterology service, and underwent upper and lower endoscopies. Numerous polyps and blood in the colon and distal small bowel were identified, but no clear...
KeywordsPapillary Thyroid Carcinoma Intussusception Lead Point Video Capsule Endoscopy Distal Small Bowel
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