Background: The incidence of neuroendocrine tumors (NET) and of gastrointestinal stromal tumors (GIST) is 0.5 and 1 - 2 in 100,000; the prevalence of neurofibromatosis is 1 in 3000 live births in Western countries.
Case report: A 43-year-old white woman with a six-month history of meleana, paleness, vertigo and fatigue was not referred to any gastrointestinal doctor for diagnostic work-up. Finally, she collapsed and was admitted to hospital because of an acute gastrointestinal bleeding. Endoscopically the source of bleeding could not be localized while blood in the duodenum and proximal jejunum was demonstrable. The source of bleeding could not be identified by endoscopy, CT scan or angiography. The patient developed a fulminant gastrointestinal hemorrhage with hemoglobin levels below 3.5 g %. An emergency laparotomy and pylorus-preventing Whipple operation was performed. Pathological studies showed a GIST with 3.5 cm diameter of the proximal jejunum which was the source of bleeding. Coincidentally a neuroendocrine carcinoma of the duodenum was found.
Conclusion: This case is the first presentation of the coincidence of a neuroendocrine carcinoma of the duodenum with a jejunal bleeding gastrointestinal stromal tumor in neurofibromatosis type1 which led to hemorrhagic shock. In neurofibromatosis -- even if non-symptomatic -- the increased incidence of tumor needs to be considered.