Turcot症候群の1例

Turcot Syndrome, Report of a Case

　大腸ポリポージスと脳腫瘍（Glioma）を合併する疾患は1959年Turcotらにより報告されて以来Turcot症候群と呼ばれ，家族性大腸腺腫症やGardner症候群と共に遺伝性大腸ポリポージスとして知られている．われわれは診断の過程に問題のあった本症候群の1例を経験したので報告する．

　A 11-year-old girl was admitted to our hospital with complaint of anal bleeding. She had had transanal polypectomy for rectal polyp one year previously. Histology of the polyp was adenoma. After the polypectomy rectal bleeding persisted. Her parents and sister were in good health, but her aunt had been operated on for sigmoid colon cancer six years ago when she was aged 21.

　Barium enema examination disclosed seven colonic polyps, scattered in the transverse, descending and sigmoid colon, being 1 to 4 cm in size. There were café-au-lait spots on the chest, shoulder and extremities. Hemangioma was also present on the face.

　Total colonoscopy was performed under general anesthesia. Eight polyps were removed by cautery snare and two small polyps were treated by hotbiopsy. Histological study disclosed a sessile invasive cancer, 15 mm in diameter, of the sigmoid colon, and four focal cancers. The other polyps were adenomas. Because of the presence of invasive cancer further surgical intervention was attempted. At laparotomy advanced cancer of the cecum was found, the tumor was not well demonstrated on the barium enema examination. She had undergone right hemicolectomy. Postoperative course was uneventful. Soon after discharge from our hospital she complained of headache, nausea, vomitting and left hemiplegia.

　Computer tomography of the head disclosed a large tumor of right frontal lobe. Craniotomy was per-formed but the tumor was not resectable.

　Histological study of the brain tumor showed astrocytoma.

　At this stage she was diagnosed to have Turcot syndrome for the first time. She died two months after craniotomy.

　Autopsy revealed that she died of malignant astrocytoma and nine adenomas were still present in the remaining colon.

　In her family pedigree study her grandmothers were half sister and recessive inheritance of her disease was suggested.