Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.
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PMID:Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. 1510 76

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Most predominant region involved in the GIT is small bowel. However, vascular lesions can occur anywhere from oral mucosa to anal canal. GIT bleed is relatively slow, resulting in minor, chronic and occult blood loss. The syndrome in the GIT may also present with severe complications such as rupture, volvulus, intussusceptions and even death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of GIT lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy such as iron supplementation and blood transfusion. Surgical resection, endoscopic sclerosis and laser photocoagulation have been proposed for more significant haemorrhage and severe complications. Here, we present a case of BRBNS in a 13-year-old girl involving the GIT especially the large bowel, presenting with the complaints of bleeding per rectum and iron deficiency anaemia. Initially, endoscopic sclerotherapy was performed, but to no response. Hence, proceeded with surgical resection.
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PMID:Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. 2997 59