Rizzi Marina, Spanghero Sara, Fontana Alberto, Obersnù Fulvio, Ginanneschi Ugo
Dipartimento Universitario Clinico di Scienze Chirurgiche Generali, Anestesiologiche e Medicina Intensiva, Unità Clinica Operativa di Chirurgia Generale, Università degli Studi di Trieste, Ospedale di Cattinara, Strada di Fiume, 447, 34149 Trieste.
Chir Ital. 2003 Mar-Apr;55(2):261-5.
We report the case of a patient with von Recklinghausen's disease, who was admitted with a diagnosis of acute abdomen due to small bowel neurofibromatosis. The patient was submitted to an abdominal CT scan that showed a homogeneous round lesion, with a regular margin, probably belonging to the small bowel and with the appearance of a benign lesion that probably caused an intestinal intussusception. The patient was submitted to a surgical procedure that mainly consisted in multiple small bowel resections. The histopathological examination confirmed the benign nature of the lesions. About one third of patients affected by von Recklinghausen's disease present involvement of the bowel, but only 5% of them are symptomatic. The intestinal tumours are usually neurofibromas and are mainly localized in the jejunum. However, there have also been reports of stromal, nervous and endocrine tumours and even other tumours not belonging to these categories, including adenocarcinoma. The overall incidence of intestinal malignancy in patients with von Reckilnghausen's disease is about 10%. The surgical operation, as well as the histopathological and immunochemical examination of the intestinal lesions are of crucial importance for the treatment of the complications of intestinal neurofibromatosis and for the treatment and diagnosis of malignancy.