Digestive Diseases and Sciences

, Volume 62, Issue 9, pp 2293–2297 | Cite as

Say What? Bannayan–Riley–Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception

  • William Kethman
  • Aarti Rao
  • Kelly Devereaux
  • Etienne Ouellet
  • Cindy KinEmail author
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...


Papillary Thyroid Carcinoma Intussusception Lead Point Video Capsule Endoscopy Distal Small Bowel 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Guan J, Zhao Q, Mao W. Nuclear PTEN interferes with binding of Ku70 at double-strand breaks through post-translational poly(ADP-ribosyl)ation. Biochim Biophys Acta Mol Cell Res. 2016;1863:3106–3115. doi: 10.1016/j.bbamcr.2016.10.003.CrossRefGoogle Scholar
  2. 2.
    Ngeow J, Eng C. PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol. Methods. 2015;77–78:11–19. doi: 10.1016/j.ymeth.2014.10.011.CrossRefPubMedGoogle Scholar
  3. 3.
    Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003;22:183–198. doi: 10.1002/humu.10257.CrossRefPubMedGoogle Scholar
  4. 4.
    Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child. 2009;94:553–554. doi: 10.1136/adc.2008.155663.CrossRefPubMedGoogle Scholar
  5. 5.
    Balik AA, Ozturk G, Aydinli B, et al. Intussusception in adults. Acta Chir Belg. 2006;106:409–412.CrossRefPubMedGoogle Scholar
  6. 6.
    Barussaud M, Regenet N, Briennon X, et al. Clinical spectrum and surgical approach of adult intussusceptions: a multicentric study. Int J Colorectal Dis. 2006;21:834–839. doi: 10.1007/s00384-005-0789-3.CrossRefPubMedGoogle Scholar
  7. 7.
    Nuño-Guzmán CM, Arróniz-Jáuregui J, Espejo I, et al. Adult intussusception secondary to an ileum hamartoma. World J Gastrointest Oncol. 2011;3:103–106. doi: 10.4251/wjgo.v3.i6.103.CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Pitiakoudis M, Romanidis K, Giatromanolaki A, et al. Single-incision assisted laparoscopic surgery (SILS) in the treatment of an intussusception induced by a solitary hamartomatous polyp: a case report and review of the literature. J Med Case Rep. 2015;9:125. doi: 10.1186/s13256-015-0606-8.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Marinis A, Yiallourou A, Samanides L, et al. Intussusception of the bowel in adults: a review. World J Gastroenterol. 2009;15:407–411.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Schulz H-J, Schmidt H. Intraoperative enteroscopy. Gastrointest Endosc Clin N Am. 2009;19:371–379. doi: 10.1016/j.giec.2009.04.011.CrossRefPubMedGoogle Scholar
  11. 11.
    Akerman PA, Cantero D. Spiral enteroscopy and push enteroscopy. Gastrointest Endosc Clin N Am. 2009;19:357–369. doi: 10.1016/j.giec.2009.04.001.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • William Kethman
    • 1
  • Aarti Rao
    • 2
  • Kelly Devereaux
    • 3
  • Etienne Ouellet
    • 4
  • Cindy Kin
    • 1
    Email author
  1. 1.Department of SurgeryStanford University Medical CenterStanfordUSA
  2. 2.Department of GastroenterologyStanford University Medical CenterStanfordUSA
  3. 3.Department of PathologyStanford University Medical CenterStanfordUSA
  4. 4.Department of RadiologyStanford University Medical CenterStanfordUSA

Personalised recommendations