Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature

Nir Horesh*, Ron Pery, Imri Amiel, Chaya Shwaartz, Chen Speter, Larisa Guranda, Mordechai Gutman, Aviad Hoffman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2777-2779
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2015


  • ATR-X syndrome
  • Emergency surgery
  • Intestinal volvulus


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