GIST of the small bowel in neurofibromatosis terrain as a source of massive bleeding

Summary

Neurofibromatosis type I (Morbus Von Recklinghausen) is an autosomal dominant disorder. The major diagnostic criteria include multiple cutaneous neurofibromas, café au lait spots, that are rarely found in the gastrointestinal tract. 5–25% of these lesions, however, may develop into gastrointestinal stromal tumours. We report the case of a 69-year-old woman with Von Recklinghausen disease. She was admitted due to gastrointestinal bleeding. During surgery we found, among multiple neurofibromatic intestinal lesions, macroscopically different bleeding tumours. They were completely removed. Histological examination revealed gastrointestinal stromal tumour.

Using an immunohistological assay, we examined stored specimens from previous operations on the same patient: one anal polyp removed a year ago and tumours removed 32 years ago and regarded as polyps then were re-classified as gastrointestinal stromal tumours.

In the discussion, the authors address the issue of which examination of the intestine would be appropriate to find out the source of bleeding in the small intestine and how to distinguish intestinal stromal tumours in the terrrain of intestinal neurofibromatosis. Another issue addressed is a screening examination in patients with skin forms of Recklinghausen’s disease.

To successfully manage intestinal bleeding, close cooperation among the surgeon, the endoscopist and the radiologist is indispensable. In order to quickly establish the right diagnosis and subsequently target treatment promptly, it is very helpful to know the patient’s exact personal medical history and also the possible complications of chronic diseases.

Key words:
neurofibromatosis – stromal – tumour – bleeding – intestinal tract