Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease

Abstract

Von Recklinghausen disease (neurofibromatosis type 1-NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy.

Keywords: duodenal neuroendocrine tumour; neurofibromatosis type 1; pancreaticoduodenectomy; persistent vomiting; von Recklinghausen disease.