Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 11, Pages 2777-2779Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37252
Keywords
ATR-X syndrome; intestinal volvulus; emergency surgery
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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. (c) 2015 Wiley Periodicals, Inc.
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