title: A case of spontaneous intestinal perforation in osteogenesis imperfecta.
abstract: A 51-year-old male with known osteogenesis imperfecta (OI) (type 1) presented with symptoms and signs of infective endocarditis. Transthoracic echocardiography showed chordal rupture and free mitral regurgitation, resulting in an emergency mitral valve repair. The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bowel perforation requiring two laparatomies for a colonic resection and loop ileostomy formation. Histology of the excised tissue demonstrated absent musculature with no evidence of ischemia. Spontaneous non-ischemic bowel perforation as a complication of osteogenesis imperfecta is to date unreported. Our case highlights the need for a high index of suspicion of non-ischemic bowel perforation in patients with connective tissue disorders.
  
  
  BACKGROUND
  Osteogenesis imperfecta; Bowel perforation; Collagen; Non-ischemic; Connective tissue disorders; Pathogenesis; Collagen vascular disorder; Acute abdomen.
authors.affiliation: Royal Brompton Hospital, London, UK.
authors.forename: Katherine
authors.initials: K
authors.lastname: Wheatley
authors.forename: Ee Ling
authors.initials: EL
authors.lastname: Heng
authors.forename: Mary
authors.initials: M
authors.lastname: Sheppard
authors.forename: Hank
authors.initials: H
authors.lastname: Schneider
authors.forename: Neil
authors.initials: N
authors.lastname: Moat
authors.forename: Jeremy
authors.initials: J
authors.lastname: Cordingley
authors.forename: Sundeep
authors.initials: S
authors.lastname: Kaul