Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Colonic volvulus in children is a rare, but serious and important differential diagnosis in acute abdominal illness. Our patient with Cornelia de Lange's syndrome, was admitted with an acute onset of abdominal pain and in a critical condition. Explorative laparotomy revealed a caecal volvulus with necrosis of the distal ileum, caecum and proximal colon. The syndrome is characterized by typical facial expression, both growth and mental retardation, and various gastrointestinal and cardiac anomalies. Predisposing factors contributing to volvulus in this syndrome are mental retardation and a higher incidence of malrotation and nonfixation of the caecum and ascending colon. The parents of children with Cornelia de Lange's syndrome should therefore be counselled so that they are able to provide essential information in the event of their children experiencing acute illness.
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PMID:[Cecal volvulus as a complication in Cornelia de Lange syndrome. A case report and literature review]. 961 83

Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful.
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PMID:Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome. 2246 36