Gorlin-Goltz Syndrome: A Rare Case Report.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder with a high degree of penetrance and variable expressivity. It is a rare phakomatosis characterized by multiple odontogenic keratocysts (OKCs), bifid ribs, and other abnormalities. The incidence of the GGS is estimated at 1 in 57,000-1 in 256,000 in the general population. The OKC is frequently the presenting manifestation of this syndrome. We report a case of a 25-year-old male patient, presenting with a swelling in the right side of the face which was diagnosed as GGS by correlating the clinical findings, histological findings, and evaluating the various tools of imaging. In the case of GGS, it is of great importance to make an early diagnosis since the severity of complications such as maxillofacial deformities related to the jaw cysts can be avoided.

Extracolonic abnormalities discovered incidentally at CT colonography in a male population.

PURPOSE: To evaluate prospectively the prevalence of incidental extracolonic findings at computed tomographic (CT) colonography and to estimate the cost of their imaging work-up in male patients with high and those with average risk of colorectal cancer. MATERIALS AND METHODS: This study was approved by the institutional review board, and informed consent was obtained from all patients. The study was compliant with requirements of the Health Insurance Portability and Accountability Act. CT colonography was performed in 500 men (mean age, 62.5 years). Of these patients, 194 (38.8%) were at average risk for colorectal cancer and presented for routine screening. The other 306 (61.2%) were at high risk for colorectal cancer. Extracolonic findings were recorded and categorized as either clinically important or clinically unimportant. Clinically important findings were defined as those that necessitated further diagnostic studies or medical or surgical follow-up. The cost of additional imaging required to further characterize important lesions was estimated. Chart review was performed (mean length of follow-up, 3.6 years) to determine whether any important findings were missed at CT colonography. The Fisher exact test was used to determine whether there was a difference between the percentages of average- and high-risk patients with extracolonic findings. RESULTS: Of the 500 patients in the study, 315 (63.0%) had extracolonic findings, and 45 (9.0%) had clinically important extracolonic findings. Of the 596 extracolonic findings identified, 50 (8.4%) were thought to be clinically important. The mean additional cost to work up important findings was $28.12 per CT colonographic examination. There were no significant differences between average-risk and high-risk patients in the percentages of extracolonic findings (P = .25) or clinically important extracolonic findings (P = .11). CONCLUSION: A substantial number of both average- and high-risk patients undergoing CT colonography will be found to have clinically important extracolonic findings. There was no increased morbidity or mortality associated with the additional evaluation of extracolonic findings. The cost of evaluating these lesions is low, given the potential for positive effects on patient care.

Comparison of supine and prone scanning separately and in combination at CT colonography.

PURPOSE: To compare colonic distention, adequacy of colonic preparation, and colorectal polyp detection as assessed with supine and prone scanning separately and in combination at computed tomographic (CT) colonography. MATERIALS AND METHODS: CT colonography and colonoscopy were performed in 182 patients. Distention and preparation of eight colonic segments were rated separately on a scale of 1-4 (1, segment completely distended or no residual material; 4, segment collapsed or large amounts of residual material). The distention, preparation, and polyp detection data were compared with regard to each position alone and then in combination. CT findings were correlated with colonoscopic findings. RESULTS: The percentage of colonic segments with grade 1 distention and preparation was 93.7% (1,364 of 1,456) and 66.6% (969 of 1,456), respectively, with combined scanning; 86.4% (1,258 of 1,456) and 52.1% (759 of 1,456), respectively, with supine scanning alone; and 85.6% (1,246 of 1,456) and 57.1% (831 of 1,456), respectively, with prone scanning alone. The sensitivity for detection of colorectal polyps 10 mm or larger, 5.0-9.9 mm, and smaller than 5 mm and polyps of all sizes was 92.7%, 79.8%, 60.3%, and 69.9%, respectively, with combined scanning. Sensitivity was 58.5%, 47.2%, 36.3%, and 42.1%, respectively, with supine scanning and 51.2%, 41.6%, 30.2%, and 36.3%, respectively, with prone scanning. The improved sensitivities for use of combined versus individual scanning positions were highly significant (P <.001) for polyps in all size categories. CONCLUSION: Colonic distention and preparation at CT colonography were significantly improved by using supine and prone scanning in combination, and results correlated directly with improved sensitivity of polyp detection.