Reyes VJM, González GB, Hernández PMA

Language: Spanish
References: 10
Page: 417-421
PDF size: 186.58 Kb.

ABSTRACT

Introduction: Gardner syndrome is a phenotypic variant of familial adenomatous polyposis that consists of a typical triad: multiple craniofacial osteomas, cutaneous tumors and intestinal polyposis. Case report: the case of a 15-year-old female patient is reported. She underwent an early investigation of familial adenomatous polyposis. The physical examination showed two tumor-like lesions: the first in the right mandibular arch and the second in the anterior side of the right tibia. A colonoscopy was conducted and several polyps were sent for histological study, which concluded they were tubular adenomatous polyps. The final diagnosis of Gardner syndrome was reached, a rare disease in pediatric patients, which is diagnosed in adults after 30 years of age, but with well established colon neoplasia. Conclusions: a rapid diagnosis and rapid intervention can improve the quality of life and even avoid the appearance of very aggressive neoplasms in the digestive tract, which is the natural history in this genetic disease.

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