Work

Radiological Recognition of Gardner's Syndrome: A Case of Desmoid Tumor, Osteomas, and Colonic Polyposis

Year: 2025

Type: article

Abstract: Gardner's syndrome (GS) is a rare autosomal dominant familial polyposis syndrome characterized by a combination of gastrointestinal and extracolonic manifestations, which include multiple colonic polyps, osteomas, and soft tissue tumors such as desmoid tumors. We report a rare case of a 24-year-old woman who presented with abdominal pain and a palpable abdominal mass. Imaging revealed a mesenteric desmoid tumor, multiple osteomas in the skull and paranasal sinuses, and supernumerary incisors, raising suspicion of GS. Virtual computed tomography colonoscopy and endoscopy showed extensive colonic and duodenal polyposis, and histopathology confirmed adenomatous polyps with dysplasia. The patient underwent surgical resection of the jejunal desmoid tumor and a total proctocolectomy with ileoanal pouch anastomosis. This case highlights the pivotal role of multimodality imaging in the early recognition of GS and its extracolonic manifestations, enabling timely diagnosis and management.

Source: Journal of Gastrointestinal and Abdominal Radiology

DOI: 10.1055/s-0045-1813674

Authors: Ashwini Umredkar, Smarth D. Manhas, Avinash Dhok, Prashant Sawarkar

Institution: All India Institute of Medical Sciences, Nagpur

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416931235