Early Initial Diagnosis of Gardner Syndrome in a 12-Year-Old Boy.docVIP

Advances in Computed Tomography, 2013, 2, 1-3 /10.4236/act.2013.21001 Published Online March 2013 (/journal/act) Early Initial Diagnosis of Gardner Syndrome in a 12-Year-Old Boy Erich Bryan, Peter Kalina Mayo Clinic, Rochester, USA Email: bryan.erich@ Received December 6, 2012; revised January 6, 2013; accepted January 16, 2013 ABSTRACT A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma. A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clinically suspected region at the left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gard- ner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis. Keywords: Gardner Syndrome; Osteoma 1. Introduction Gardner Syndrome is a rare variant of Familial Adeno- matous Polyposis (FAP) caused by a gene mutation on chromosome 5 [1]. Gardner syndrome is defined as a triad of intestinal polyps and extraintestinal manifesta- tions including osteomas and tumors of the skin and soft tissue. Incidence of Gardner syndrome is between 1 in 4000 and 1 in 12,000 [2]. A hereditary form of colonic polyposis was described by Cripps in 1863. Gardner syndrome was ultimately defined by Gardner in 1950 who later recognized the dental and skeletal abnormali- ties of the disease [2]. The diagnosis portends significant morbidity. Ninety percent of patients with Gardner Syn- drome will have intestinal polyps which, in turn, have a