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  • Title: Epigastric pain in a patient with neurofibromatosis type 1.
    Author: Leung VK, Lee SW, Yuen NW, Kung NN, Loke TK.
    Journal: Hong Kong Med J; 2005 Jun; 11(3):213-5. PubMed ID: 15951589.
    Abstract:
    Patients with neurofibromatosis type 1 are at increased risk of developing carcinoid tumours of the duodenum, particularly in the ampulla of Vater. Aggressive surgery with pancreatoduodenectomy is recommended for all ampullary carcinoid tumours because of their propensity to metastasise. We report a case of a 43-year-old woman with neurofibromatosis type 1, who presented with recurrent epigastric pain for 15 months. Evaluation using magnetic resonance cholangiopancreatography and side-viewing duodenoscopy revealed a submucosal tumour at the ampulla of Vater causing pancreatobiliary ductal obstruction and dilation. The ampullary tumour was overlooked initially by forward-viewing endoscopy. The patient subsequently underwent pancreatoduodenectomy. Histological examination of the surgically resected specimen confirmed the presence of a carcinoid tumour, with metastasis to peri-pancreatic lymph nodes. She remained asymptomatic 10 months after surgery.
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