title: Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.
abstract: Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients.
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Horesh
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Ron
authors.initials: R
authors.lastname: Pery
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Imri
authors.initials: I
authors.lastname: Amiel
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Chaya
authors.initials: C
authors.lastname: Shwaartz
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Chen
authors.initials: C
authors.lastname: Speter
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Larisa
authors.initials: L
authors.lastname: Guranda
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Mordechai
authors.initials: M
authors.lastname: Gutman
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel), Tel-Hashomer, Ramat Gan, Israel.
authors.forename: Aviad
authors.initials: A
authors.lastname: Hoffman
mesh_terms: D002675:Child, Preschool; D012809:Colon, Sigmoid / Q000473:pathology; D004108:Dilatation, Pathologic; D006801:Humans; D007415:Intestinal Obstruction / Q000150:complications* / Q000000981:diagnostic imaging; D045822:Intestinal Volvulus / Q000150:complications* / Q000000981:diagnostic imaging; D007421:Intestine, Small / Q000473:pathology; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D055815:Young Adult; D017085:alpha-Thalassemia / Q000150:complications* / Q000000981:diagnostic imaging
keywords: ATR-X syndrome; emergency surgery; intestinal volvulus