Case Report
Copyright ©2007 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Jul 28, 2007; 13(28): 3900-3903
Published online Jul 28, 2007. doi: 10.3748/wjg.v13.i28.3900
Gardner's syndrome: Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report
Dubravko Smud, Goran Augustin, Tihomir Kekez, Emil Kinda, Mate Majerovic, Zeljko Jelincic
Dubravko Smud, Goran Augustin, Tihomir Kekez, Emil Kinda, Mate Majerovic, Zeljko Jelincic, Department of Surgery, Division of Abdominal Surgery, Clinical Hospital Center Zagreb, Zagreb, Croatia
Author contributions: All authors contributed equally to the work.
Correspondence to: Goran Augustin, Clinical Hospital Center Zagreb, Department of Surgery, Division of Abdominal Surgery, Kispaticeva 12, Zagreb 10000, Croatia. augustin.goran@gmail.com
Telephone: +385-1-6196030 Fax: +385-1-2421845
Received: February 23, 2007
Revised: March 15, 2007
Accepted: March 21, 2007
Published online: July 28, 2007
Abstract

We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner's syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative procto-colectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum (Dukes C stage). We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.

Keywords: Gardner’s syndrome; Familial adenomatous polyposis; Restorative proctocolectomy; Ileal pouch anal anastomosis; Cranial osteoma