Gardner Syndrome

A 24-year-old man presented with a palpable mass in the deep superonasal quadrant of the left orbit which had been present for one year. He had no visual complaints, yet noted multiple hard masses at the right and left mandibular angles. The patient had history of a similar mass in his right orbit which had prompted surgical intervention 2 years earlier. Histopathological evaluation of the right orbital mass had revealed an osteoma. Ophthalmologic examination disclosed best corrected visual acuity of 20/20 in both eyes, no color vision impairment and briskly reactive pupils with no relative afferent pupillary defect. Intraocular pressure (IOP), slit lamp biomicroscopy and fundus examination were unremarkable and no proptosis or extraocular muscle restriction was noted. An immobile, smooth surfaced lesion in the deep superonasal quadrant of the left orbit was palpable on external examination (Fig. 1). Similar lesions were noted at the right and left mandibular angles (Fig. 2). Computed tomography (CT) displayed well-circumscribed masses with bone density consistent with osteomas in the right orbital region adjacent to the optic canal, and within the ethmoidal air cells, bilaterally (Fig. 3). Hyperdensity was observed in the left mandible on skull x-ray consistent with an osteoma (Fig. 4). A visual field test was performed to rule out defects caused by compressive optic neuropathy, which revealed to be normal (Fig. 5). The patient had a significant family history; his mother had died due to an unknown gastrointestinal problem at the age of 40. The presence of multiple osteomas and a suspicious family history raised a presumptive diagnosis of Gardner syndrome. Regarding long-term abdominal discomfort, epigastric pain and dyspepsia, gastroesophagoscopy was performed which detected multiple large sessile polyps in the fundus and cardia of the stomach, and some small polyps in the prepyloric area (Fig. 6). With an initial impression of familial adenamatous polyposis (FAP) and Gardner syndrome, the patient underwent colonoscopic examination which likewise revealed multiple sessile polyps in the cecum and ascending colon. Biopsy results showed tubular adenomas with low grade dysplasia. FAP was further confirmed by genetic analysis and the patient underwent total colectomy considering the high risk of colorectal cancer. Figure 2. Hard immobile mass at the left mandibular angle. Figure 1. Deep superonasal orbital mass on the left side.