Intestinal neurofibromatosis and small-bowel adenocarcinoma: A single case study: Original article
European Journal of Cancer Care (Impact Factor: 1.56). 03/2009; 18(5):466 - 469. DOI: 10.1111/j.1365-2354.2007.00888.x
Objective: Patients with Von Recklinghausen's disease (neurofibromatosis type 1) are at increased risk of developing various tumours. However, the coexistence of neurofibromatosis with small-bowel adenocarcinoma is exceedingly rare. We present an uncommon case of neurofibromatosis type 1, involving the small bowel in a 73-year-old man, who was admitted to our department with signs of acute abdomen. At laparotomy, multiple mesenteric and intramural nodules were seen in the distal ileum. These nodules obstructed ileal lumen, while the intestine wall was perforated in one point. A wide resection of the affected ileum together with all visible nodules in the adjacent mesentery was performed. Histology revealed neurofibromatosis type 1 with malignant transformation to small-bowel adenocarcinoma. The patient had no additional therapy. In a follow-up of 2 years, the patient is very well and there was no recurrence of the disease. We suggest that adenocarcinoma of small bowel should be considered in the evaluation of acute abdominal pain in neurofibromatosis patients.
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ABSTRACT: Intestinal ganglioneuromatosis is included in the syndrome of non-hereditary hamartomatous polyposis. It is a rare disorder of the enteric nervous system, characterized by a diffuse hyperplasia of the neural plexus of the intestinal wall. Usually it manifests in the form of constipation or diarrhea associated with abdominal distension and pain. It is often associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2b and may be one of its first manifestations. More rarely it can present in a sporadic and isolated form. Although regarded as a benign lesion, it can be associated with neoplastic degeneration of the intestinal epithelium. In the present case we describe a diffuse intestinal ganglioneuromatosis of small bowel associated with carcinomas, very rarely described in literature.
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