Diffuse ganglioneuromatosis in small intestine associated with neurofibromatosis type 1

Royal Marsden Hospital, London, United Kingdom.
Annals of diagnostic pathology (Impact Factor: 1.12). 03/2009; 13(1):50-4. DOI: 10.1016/j.anndiagpath.2007.06.001
Source: PubMed


Ganglioneuromatosis of the gastrointestinal tract is a rare condition that has an established association with the multiple endocrine neoplasia syndrome, type IIb. Its occurrence in neurofibromatosis, in which the large intestine is usually affected, is much rarer. We report a case of diffuse ganglioneuromatosis of the small bowel, found incidentally during surgery for a malignant peripheral nerve sheath tumor arising in the retroperitoneum in a 32-year-old man with neurofibromatosis type 1, and review previously reported cases.

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    ABSTRACT: We report a case of intra-abdominal plexiform neurofibromatosis, including periportal, mesenteric, and gastrointestinal tract involvement, in a patient with von Recklinghausen’s disease/neurofibromatosis type 1 (NF-1). A 26-year-old man with familial NF-1 was admitted to hospital for further examination of an abnormal hepatic mass along the portal vein. Esophagogastroduodenoscopy revealed antral wall thickening and swelling of the papilla of Vater. Mucosal biopsies taken from the duodenum revealed possible ganglioneuromatosis. Abdominal ultrasonography, contrast-enhanced computed tomography, and magnetic resonance imaging revealed an abnormal periportal mass with serpiginous extension into the liver along the portal vein and the mesentery, which is the typical spread pattern of plexiform neurofibromatosis. A laparotomy and cholecystectomy for gallstones were performed, and this patient was diagnosed as having intra-abdominal plexiform neurofibromatosis. This is the 15th case of intrahepatic periportal plexiform neurofibromatosis and the 16th case of diffuse ganglioneuromatosis associated with NF-1 in the English literature. The imaging findings of the lesion have been followed for 10years; there has been slight growth of the mass, but no malignant transformation has been found. The previously reported cases are reviewed. KeywordsNeurofibromatosis type 1 (von Recklinghausen’s disease)–Intestinal diffuse ganglioneuromatosis–Intrahepatic periportal plexiform neurofibromatosis
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