Ampullary carcinoid and neurofibromatosis: case report and review of the literature.

A 49-year-old woman is reported with an ampullary carcinoid and von Recklinghausen's neurofibromatosis, presenting with melaena. On upper GI-endoscopy a tumour of the ampulla of Vater was seen. Histochemical examination revealed a carcinoid tumour. A review of the literature shows that patients with von Recklinghausen's neurofibromatosis are at increased risk for developing tumours of neuroectodermal origin, with the ampulla of Vater as predilection site. Therefore, early diagnostic evaluation, primarily by gastroduodenoscopy, for malignancies in patients with von Recklinghausen's neurofibromatosis and abdominal discomfort is recommended. Surgical removal is the only therapy so far evaluated.