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Gardner Syndrome Case Study

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SUMMARY

A 64 year old male who presented with bleeding per rectum and altered bowel habits of 6 month duration was found to have numerous polyps in the colon with colonoscopy. He also had two osteomas on the forehead and several epidermal cysts in the scrotal skin. His brother had a history suggestive of a similar disease. The patient underwent total proctocolectomy and ileal pouch – anal anastomosis.

Pathological examination of the resected specimen revealed a moderately differentiated adenocarcinoma in addition to numerous polyps which were villous, tubulo-villous and tubular adenomata with low grade dysplasia. There were oligocryptal and flat adenomata as well.
The patient was diagnosed to have colonic adenocarcinoma complicating Gardner
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Gardner and his colleague.1 This syndrome is characterized by presence of numerous intestinal polyposis (more than hundred) as well as gastric and duodenal polyposis and is associated with extraintestinal manifestations of bone and soft-tissue such as osteomas, desmoid fibromatosis, lipomas and epidermal cysts.2

Gardner syndrome is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and is caused by truncating mutations of the APC gene, which is a tumour suppressor gene. This gene has been localized to a small region on the long arm of chromosome 5 (5q21-22), and this region is referred to as the adenomatous polyposis coli locus. 11

Diagnostic criteria that are established by World Health Organization for FAP include,
1. Hundred or more colorectal
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The most effective method for demonstrating mutated APC gene in relatives of patients with FAP syndrome is genetic testing.15
CASE REPORT

History A 64-year-old previously apparently healthy male presented with fresh painless bleeding per rectum which was mixed with stools and intermittent in nature. It was associated with altered bowel habits characterized by increased frequency with a sense of incomplete evacuation, loss of appetite and loss of weight for the last 6 months. He did not have abdominal pain, vomiting or melena.

The patient had hypertension and the past surgical history was unremarkable.

His family history revealed that his brother had a similar disease and had undergone a bowel surgery in his fifties. No other immediate family members had a history of malignancy or features of bowel disease.

He was an ex-smoker and has consumed alcohol in the past. He used to be a farmer, now living in a temple.
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