P-202 YI Turcotʼs Syndrome in a Patient Affected with Crohnʼs Disease

Abstract

Turcot's syndrome and Crohn's disease are not known to have common genetic, etiologic or pathogenic connection, however, both are associated with marked increased risk for developing colorectal cancer and, although uncommon, small bowel cancer. We present a pediatric patient diagnosed with both Crohn's Disease and Turcot's syndrome. This case is rare and challenging since surgical options must be considered and immunosuppressants/immunomodulators have potential to increase cancer risks. This open discussions about the potential association between Turcot's syndrome and Crohn's disease, as well as recommendations on surveillance programs. We present the case of a 13-year-old girl, with family history of Familial Adenomatous Polyposis (FAP), diagnosed with both Crohn's Disease and Turcot's syndrome. Endoscopic procedures, brain imaging and mutational analysis of the APC and MUTYH gene sequence were performed. The patient was diagnosed with Crohn's disease based on colonic biopsies that revealed active colitis with a poorly formed granuloma and adjacent inflammatory exudate. Immunosuppressant and biologic therapy were started. She later developed headache, dysarthria and right-sided hemiparesis, 10 months after her initial diagnosis. Brain MRI showed large posterior fossa tumor with obstructive hydrocephalous, and biopsy was consistent with medulloblastoma. On a surveillance upper endoscopy and colonoscopy, multiple sessile polyps were noted in the duodenum and colon, which had histologic evidence of tubular adenoma. In the setting of the brain tumor with APC germline mutation, the patient had clinical characteristic of Turcot's syndrome. The diagnosis of both Crohn's Disease and Turcot's syndrome in the same patient complicates the surgical approach and it raises concerns regarding the potential increase cancer risks of common treatment options for Crohn's disease. A pediatric patient with both Turcot's syndrome and Crohn's Disease is a rare occurrence and both independently increase the risk of colorectal cancer. The management is particularly challenging since surgical options must be considered and immunosuppressants/immunomodulators have potential to increase cancer risks. It is unclear whether a stricter surveillance program is warranted. Further studies are necessary to determine the potential association between Turcot's syndrome and Crohn's disease and to identify the optimal management for these patients.