Angiographic demonstration of gastrointestinal neurofibromas in von Recklinghausen's disease

Abstract

Two cases of intestinal neurofibromas which were demonstrated during mesenteric arteriography are described. In 1 patient, tumors located in the jejunum and distal ileum were the apparent source of gastrointestinal bleeding. In another case, a neurofibroma of the proximal jejunum was an incidental finding during evaluation for severe pancreatitis and bleeding from esophageal varices.

Gastrointestinal involvement in neurofibromatosis: Angiographic presentation

“…Since neurofibromas may grow extraluminally and are hypervascular, they may be easily mistaken for leiomyomas and leiomyosarcomas [6]. To our knowledge there is only 1 previous report of 2 cases showing the angiography of neurofibromas [4]. However, besides the tumor blush and mass effect on the bowel wall, angiography may also show dense venous return and multiple lesions, as in our case (Fig.…”

“…1). Angiography probably remains the best imaging modality for detecting such rare tumors [4][5][6]. Since neurofibromas may grow extraluminally and are hypervascular, they may be easily mistaken for leiomyomas and leiomyosarcomas [6].…”

“…Since there are only 2 previously published cases of GI neurofibromas detected by angiography [4], we report the findings of another such case. tern followed by early and dense venous return) in the proximal jejunum a few centimeters from the ligament of Treitz.…”

“…as 25% of patients with von Recklinghausen's disease. Identification of these tumors is important because they may bleed massively and sarcomatous degeneration may occur in 15% of patients [4]. Hemorrhage and obstruction due to intussusception are the principal clinical manifestations of gastrointestinal involvement in neurofibromatosis [3].…”

Life-threatening gastrointestinal bleeding in a case of neurofibromatosis 1 and gastrointestinal stromal tumour managed with surgical intervention as a case report

“…In 1983, I Vujic, RD Sbrocchi, et al demonstrated angiographically that there can be neurofibromas in the gastro-intestinal tract from the jejunum to the distal ileum. 1 Though clinical characteristics were described long back in the form of skin neurofibromas, café au lait spots, leish nodules and axillary freckles, called ‘probands’ were defined later. Genetic studies were also done much later, and today neurofibromatosis 1 is diagnosed by the presence of 1 proband and a heterozygous NF1 pathogenic variant.…”