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Case Reports
Journal Article
Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome.
American Journal of Medical Genetics 1997 December 32
Individuals with Prader-Willi syndrome (PWS) have excessive appetite with the ability to consume large quantities of food. Absence of vomiting and a high pain threshold are considered manifestations of the disorder. We present 6 patients with PWS with acute dramatic gastric distention. In 3 young adult women with vomiting and apparent gastroenteritis, clinical course progressed rapidly to massive gastric dilatation with subsequent gastric necrosis. One individual died of overwhelming sepsis and disseminated intravascular coagulation. In 2 children, gastric dilatation resolved spontaneously. Gastrectomy specimens--in 2 cases subtotal and distal, in the other with accompanying partial duodenectomy and pancreatectomy--showed similar changes. All cases demonstrated signs of ischaemic gastroenteritis. All specimens showed diffuse mucosal infarction with multifocal transmural necrosis. Vascular dilatation and small bifrin thrombi were apparent within the infarcted areas. These 6 women with PWS had acute idiopathic gastric dilatation. It is possible that a predisposition to acute gastric dilatation may be related to abnormal gastric homeostasis on a genetic basis. Understanding the mechanisms responsible for this event could increase the understanding of gastrointestinal and appetite regulation in individuals with PWS.
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