Case 8 -

Diffuse ganglioneuromatosis with plexiform neurofibromas Claude Cuvelier

Case History: This is the case of a 30 year old man with a diffuse thickened mesocolon and a malrotation of a small intestinal loop. Macroscopic features showed a small intestinal segment of 53 cm with diffusely thickened wall over 44 cm. On opening the small bowel, multiple firm, swollen polyps causing narrowing of the lumen were found. Frozen section request: malignant? Case 8 - Slide 1 Click to view with ImageScope Click to view with a Web-Based Viewer Ganglioneuromas can occur in the small intestine and colon in three forms: solitary, polypoid and diffuse ganglioneuromatosis. The diffuse form can be associated with type-1 neurofibromatosis (NF-1) or von Recklinghausen's disease and multiple endocrine neoplasie (MEN) type IIB (Shekitka et al. 1994; Smith et al. 1999). The present patient appeared to have von Recklinghausen's disease but no characteristics of MENIIB. The macroscopic appearances include a poorly demarcated diffuse and nodular submucosal or transmural thickening by irregular lesions causing luminal stricture. The diagnosis can be made by identifying ganglion cells surrounded by enteroglial spindle cells with undulating nucleus and minimal cytoplasm (Chambonnière et al. 2003; Shekitka et al. 1994). In the presented case plexiform neurofibromas originating from the mesenteric nerves also occur. These are characteristic stromal tumours in von Recklinghausen's disease and may even be considered as pathognomonic for this disease. The combination of diffuse ganglioneuromatosis and plexiform neurofibromas has been reported but is very rare (Hirata et al. 1996). Gastrointestinal involvement in cases of NF-1 occurs in approximately 25% of patients and can present in four forms (Fuller and Williams. 1991): 1) stromal tumours, 2) neuronal hyperplasia and ganglioneuromatosis, 3) duodenal and periampullar endocrine tumours and 4) other neoplasms in the GI tract like small intestinal and pancreatic adenocarcinoma, cholangiocarcinoma. References Chambonnière ML, Porcheron J, Scoazec JY, Audigier JC, Mosnier JF. La ganglioneuromatose intestinale diagnostiquée chez l'adulte (full text in English on http://www.e2med.com/gcbe ). Gastroenterol Clin Biol 2003; 27: 219-24. Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathol. 1991; 19: 1-11. Hirata K, Kitahara K, Momosaka Y, Kouho H, Nagata N, Hashimoto H, Itoh H. Diffuse ganglioneuromatosis with plexiform neurofibromas limited to the gastrointestinal tract involving a large segment of small intestine. J Gastroenterol 1996; 31: 263-7. Shekitka KM, Sobin LH. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol 1994; 18: 250-7. Smith VV, Eng C, Milla PJ. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment. Gut 1999; 45: 143-6.