Intra-abdominal plexiform neurofibromatosis including periportal, mesentery, and gastrointestinal tract involvement in neurofibromatosis type 1: case report and review of the literature.

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.