A case report of pediatric Gardner syndrome and literature review.

Abstract

This case report discusses the diagnosis and treatment of a 14-year-8-month-old male patient genetically diagnosed with Gardner syndrome (GS), systematically reviewing the disease's epidemiology, clinical manifestations, imaging advances, and management strategies. The patient presented with a post-influenza A chest wall mass and had prior resections of abdominal/scalp masses. Colonoscopy revealed > 20 adenomatous polyps. Imaging demonstrated multiple craniofacial osteomas and epidermoid cysts. Genetic testing identified a pathogenic APC gene mutation (NM_000038.6:c.4669_4670del (p.Ile1557*) heterozygous variant). GS, a familial adenomatous polyposis (FAP) subtype, has an estimated pediatric incidence of 1/8000-1/14,000. Its classic triad comprises colorectal polyps, osteomas, and soft tissue tumors. Recent studies indicate earlier malignant transformation of duodenal polyps in children versus adults, with desmoid tumor incidence reaching 10-20%. In imaging, low-dose CT, panoramic radiography, and contrast-enhanced MRI can improve early detection of bone lesions and soft tissue tumors. Genetic testing (APC/MUTYH) is the pediatric screening gold standard. Optimized chemoprevention (sulindac/celecoxib) and endoscopic monitoring have significantly improved prognoses. This case highlights the urgency of multidisciplinary management and genetic counseling for pediatric GS.