Unusual Cause of Gastrointestinal Bleeding in a Patient with Turner Syndrome.

Turner syndrome is an exclusively female genetic disease caused by complete or partial absence of the second X chromosome. It is classically characterized by congenital lymphedema, short stature, and gonadal dysgenesis. In addition, the syndrome is associated with several other abnormalities. One of them is gastrointestinal bleeding, which is frequently associated with inflammatory bowel disease, but it can also be caused by vascular lesions such as hemangioma, vascular ectasia, and telangiectasia. We report the case of a patient with Turner syndrome with an episode of gastrointestinal bleeding, outlining our pathway for the investigation and treatment of this condition.

Diagnóstico de tumor estromal gastrointestinal – GIST através de enteroscopia com duplo-balão: relato de caso / Diagnosis of gastrointestinal stromal tumor – GIST by double ballon enteroscopy: case report

O diagnóstico de tumores estromais gastrointestinais (GIST) de jejuno é raro, pois eles são, na maioria das vezes, localizados no estômago. Podem cursar de forma assintomática, ser encontrados acidentalmente (massa abdominal durante investigação com tomografia computadorizada) ou como etiologia de sangramento digestivo obscuro. O diagnóstico e tratamento de doenças localizadas no intestino delgado é um desafio à prática médica. Atualmente dispomos de um novo instrumento desenvolvido para este fim, o enteroscópio de duplo-balão (EDB), que está disponível no nosso meio. A indicação mais freqüente deste exame é na investigação de sangramento obscuro, cujos diagnóstico e tratamento podem ser realizados em várias ocasiões. Este artigo relata um caso de sangramento digestivo obscuro cuja etiologia foi GIST de jejuno, diagnosticado por enteroscopia utilizando o EDB

Gastrointestinal stromal tumors (GIST) of small bowel are infrequent and diagnosis could be troublesome. The majority of these uncommon tumors are located in stomach. GIST might be asymptomatic but usually present with non-specific gastrointestinal symptoms such as abdominal mass, pain, bleeding, anorexia and bowel obstruction. Double Balloon Enteroscopy is an endoscopic technique for visualization of the small bowel. It allows for visualization of the entire small bowel, for the application of therapeutics, for the sampling or biopsying of small bowel mucosa and for the resection of polyps of the small bowel. This article relates a GIST case of jejunum in which the Double Balloon Enteroscopy is the technique used to diagnose this disease by investigation of obscure gastrointestinal bleeding