title: 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 10 years; there has been slight growth of the mass, but no malignant transformation has been found. The previously reported cases are reviewed.
authors.affiliation: Department of Gastroenterology and Internal Medicine, Kakogawa West City Hospital, 384-1 Hiratsu, Yoneda-cho, Kakogawa, Hyogo, 675-8611, Japan. tf_fujisawa@tcct.zaq.ne.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujisawa
authors.affiliation: Department of Gastroenterology and Internal Medicine, Kakogawa West City Hospital, 384-1 Hiratsu, Yoneda-cho, Kakogawa, Hyogo, 675-8611, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Takata
authors.affiliation: Department of Gastroenterology, Nippon Steel Hirohata Hospital, Himeji, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Ouchi
authors.affiliation: Department of Gastroenterology, Nippon Steel Hirohata Hospital, Himeji, Japan.
authors.forename: Shigemitsu
authors.initials: S
authors.lastname: Ueyama
authors.affiliation: Department of Surgery, Kakogawa West City Hospital, Kakogawa, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Nakajima
authors.affiliation: Department of Surgery, Kakogawa West City Hospital, Kakogawa, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Mitsutsuji
authors.affiliation: Department of Surgery, Kakogawa West City Hospital, Kakogawa, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kawamura
authors.affiliation: Department of Medicine of Oncology, Kobe University Hospital, Kobe, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Toyoda
authors.affiliation: Department of Pathology, Kakogawa West City Hospital, Kakogawa, Japan.
authors.forename: Akiji
authors.initials: A
authors.lastname: Okamura
keywords: Intestinal diffuse ganglioneuromatosis; Intrahepatic periportal plexiform neurofibromatosis; Neurofibromatosis type 1 (von Recklinghausen’s disease)