A Case of Neurofibromatosis Type 1 with Multiple Rectal Carcinoids

Takashi Yamaguchi, Sachiko Minamiguchi*, Toshio Yamato, Natsue Uehiro, Hiroaki Hata, Satoshi Ogiso, Tetsushi Otani, Nobuyuki Tsuchiya and Kinya Koizumi

Department of Surgery and Department of Pathology*, National Hospital Organization Kyoto Medical Center

A 43-year-old woman with neurofibromatosis type 1 (NF1) reporting hematochezia was found in colonoscopy to have a few small submucosal nodules in the lower rectum, confirmed from a locally resected specimen to be carcinoid tumor. Abdominal computed tomography (CT) showing a 3 cm mass in the rectal posterior wall and a 3.5 cm mass in the ileocolic mesentery, necessitated low anterior rectum resection and ileocolic tumor excision. Histological diagnosis showed both tumors to be plexiform neurofibromas. Ten carcinoids 1 to 6 mm in diameter were found in the resected rectum with lymph-node metastasis. In patients with NF1, neurofibromas may be present in the abdominal cavity. Carcinoid tumors may arise in the periampullary area but rarely in the rectum. We present a case with NF1 accompanying abdominal plexiform neurofibromas and multiple rectal carcinoids.

Key words
neurofibromatosis type1, carcinoid, rectum

Reprint requests
Takashi Yamaguchi Department of Surgery, National Hospital Organization Kyoto Medical Center
1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto, 612-8555 JAPAN

Accepted
June 18, 2009

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