S1794 Gardner's Syndrome and Familial Adenomatous Polyposis: Unusual Presentation With Eye Pain

INTRODUCTION: Gardner's syndrome is a rare disorder characterized by multiorgan neoplasia including colorectal lesions, mesenchymal tumors, and osteomas. We present a case of Gardner's syndrome in a young woman who presented with an abdominal wall mass and eye pain. CASE DESCRIPTION/METHODS: A 38-year-old Hispanic female presented with a progressively increasing abdominal wall mass over one year. She complained of swelling and pain to the left eye for 2 weeks. Physical examination showed a firm left abdominal wall mass and left eye ptosis. Her labs revealed iron deficiency anemia. CT abdomen demonstrated a 14 cm mass in the left abdomen, a 4 cm mass in the right anterior abdominal wall, and multiple 1–2 cm hypodense lesions in the liver (Figure 1). She underwent biopsies of the abdominal wall mass and one of the liver lesions. MRI of the left orbit showed a 3 cm enhancing soft tissue mass in the left supraorbital area invading the orbital wall (Figure 2). Pathology of the abdominal wall mass revealed desmoid fibromatosis. Pathology of the liver lesion revealed metastatic adenocarcinoma of gastrointestinal primary. She subsequently underwent upper and lower endoscopy. EGD showed innumerable polyps throughout the stomach and a periampullary mass. Colonoscopy demonstrated large separated masses in the rectum and sigmoid colon (Figure 3). Pathology revealed gastric adenomas, a periampullary adenoma, and invasive adenocarcinoma of the rectum. The diagnosis of Gardner's syndrome was made, with colorectal cancer metastatic to the liver and left orbit. She was started on systemic chemotherapy. However, she presented one month later with dyspnea and poikilothermia of both legs. She was found to have new vertebral metastases causing spinal cord compression. Her condition continued to deteriorate despite chemotherapy. She passed away 3 months after the diagnosis. DISCUSSION: Gardner's syndrome is a subgroup of familial adenomatous polyposis caused by the APC gene mutation. The syndrome may present with a variety of manifestations including osteomas, desmoid tumors, intestinal polyposis and hypertrophy of retinal pigment epithelium. Our patient presented with metastatic colorectal cancer with limited treatment options. In Gardner’s syndrome if adenomatous polyps are detected early, total proctocolectomy can prevent the progression to colorectal cancer. Treatment of desmoid tumor includes surgical resection in symptomatic patients and systemic therapy including tamoxifen, sulindac or celecoxib.Figure 1.: CT scan of the abdomen demonstrated (A) a large lobulated 14.2 × 7.9 × 10.9 cm in the left anterior abdominal wall mass (an arrow) and a 3.6 × 2.6 × 4.0 cm mass in the right anterior abdominal wall (not shown in this picture) and (B) hypodense lesions in the right hepatic lobe the liver measuring 2.8 × 2.5 cm and in the left hepatic lobe measuring 1.3 × 1.5 cm (arrow heads).Figure 2.: MRI of the orbits showed a T1 and T2 hypointense mildly enhancing mass (arrows), measured 2.5 × 3.0 × 1.5 cm, in the left supraorbital extraconal soft tissues with destructive changes of the superior orbital wall extending intracranially.Figure 3.: Colonoscopy showed ulcerated masses in the rectum and sigmoid colon (A). Upper endoscopy showed innumerable sessile polyps throughout the stomach (B) and a periampullary mass in the duodenum (C).