Abstract
Neurofibromatosis type 1 is an autosomal dominant genetic disorder with an estimated birth incidence of 1 in 3000-4000. The major diagnostic criterion includes multiple cutaneous neurofibromas, axillary or inguinal freckling, and café au lait spots. Gastrointestinal neoplasms have a reported occurrence of 2-25% of which neurofibromas are the most frequently diagnosed benign neoplasm. Periampullary tumors in patients with neurofibromatosis are usually carcinoids and very rarely adenocarcinoma. We report a case of 40-year old woman with neurofibromatosis type 1 who presented with epigastric pain and jaundice. She was diagnosed to have ampullary tumor after investigations, and she underwent pancreaticoduodenectomy. The resected specimen histologically showed adenocarcinoma of the ampulla.
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