Intestinal neurofibromatosis and small‐bowel adenocarcinoma: a single case study
ABSTRACT 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.
- Histopathology 03/2011; 58(5):799-801. · 3.30 Impact Factor
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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.GE Jornal Português de Gastrenterologia. 03/2013; 20(2):83–88.
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ABSTRACT: Gastrointestinal manifestations occur in up to 25% of patients with neurofibromatosis type 1. This paper reports all published cases of acute intestinal obstruction due to neurofibromatosis type 1 and identifies mechanisms of obstruction, the nature of the tumour and outcome. A systematic review of the literature on acute intestinal obstruction due to neurofibromatosis type 1 was performed, by a search of the major electronic databases. All relevant references were reviewed for possible inclusion. All references of the relevant articles were screened for any further articles that were missed in the initial search. From 1972 to 2013, 25 articles reporting 25 patients with von Recklinghausen's disease who underwent laparotomy for acute intestinal obstruction were identified. Three further patients were operated on in our institution. The mean age was 44.2 years and male/female ratio 15/13.The mechanism of obstruction was intrinsic obstruction (16), extrinsic obstruction (8) and intussusception (4). Histology was reported to show neurofibroma (19), gastrointestinal stromal tumour (5), and adenocarcinoma (4). Among patients (17) whose outcome was mentioned, ten were asymptomatic after a mean follow-up of 1.5 years. Acute bowel obstruction is a rare manifestation in neurofibromatosis type 1. Surgery is often necessary to treat the complication and to determine the exact nature of the tumour and the prognosis. This article is protected by copyright. All rights reserved.Colorectal Disease 04/2014; · 2.02 Impact Factor