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Abstracts: CLINICAL VIGNETTES/CASE REPORTS - SMALL INTESTINE/UNCLASSIFIED

Unusual Case of Obscure Overt Gastrointestinal Bleeding Diagnosed with Spirus Enteroscopy in Patient with Tuberous Sclerosis

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Rkaine, Soukayna MD; Nawras, Ali MD

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American Journal of Gastroenterology: October 2010 - Volume 105 - Issue - p S236
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Purpose: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign neoplasms of the skin and internal organs. It involves the neurological system in most cases, in addition to the skin, the kidneys and the lungs. The Involvement of gastrointestinal system is uncommon and not well described in literature. This involvement varies from benign angiomyolipomas, neuroendocrine tumors, hamartomas polyps and stromal tumors to invasive rectal adenocarcinoma. Here we report a patient known to have TSC, presented with recurrent obscure overt gastrointestinal bleeding due to a large Jejunal submucosal undifferentiated tumor diagnosed by Spirus enteroscope. A 39- year- old Caucasian female, known to have TSC with multi-organ involvement including kidney, lung and liver, presented to our hospital with a complaint of melena for three days. She denied any abdominal pain, nausea, vomiting hematemesis or hematochezia. On physical examination, she had normal vital signs. The abdomen was soft, nontender with positive bowel sounds. Her blood test revealed hemoglobin of 6.7 g/dl. Prior to this episode the patient had recurrent episodes of obscure overt GI bleeding in the form of melena over the course of one year. She had two previous upper endoscopies revealing multiple small polyps in the stomach and duodenum. None of the polyps had stigmata of bleeding. She also had two negative colonoscopies. The patient was admitted to the hospital, received blood transfusion and underwent upper gastrointestinal endoscopy which revealed again multiple small non bleeding sessile polyps in the stomach and duodenum. The colonoscopy was unremarkable. Capsule endoscopy was done and revealed fresh blood in the jejunum without identifying the source. Enteroscopy was then performed using spirus enteroscope, which showed large submucosal, umbilicated and ulcerated mass at the proximal jejunum. The mass was biopsied and the biopsy was unremarkable. Surgical resection of the mass was performed. The gross pathology revealed well circumscribed submucosal gray-white mass. The immunostains were negative. The pathological diagnosis of the mass was reported as undifferentiated malignant neoplasm. Up to date (three months post surgical resection) the patient had no further episodes of GI bleeding and her Hemoglobin level stayed normal. To our knowledge, our patient is the first reported patient with TSC and large undifferentiated malignant neoplasm of the jejunum causing significant recurrent obscure overt GI bleeding and the first to be diagnosed by using Spirus enteroscope and then successfully treated surgically.

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