NSRG-07. TURCOT SYNDROME: A SYNCHRONOUS CLINICAL PRESENTATION OF MEDULLOBLASTOMA AND LOWER RECTAL TUMOR

Abstract INTRODUCTION Turcot syndrome (TS) is a rare hereditary disorder with genetic susceptibility to cancer which is characterized by the occurrence of colorectal and central nervous system (CNS) tumors. CLINICAL CASE Here we report the case of a 16-year-old patient who was operated for medulloblastoma with simple operative follow-up after radio and chemotherapy. Two years later, she was admitted, in a state of cachexia, for abdominal pain and rectorrhagia. The explorations found an infected lower rectal tumor. The patient underwent an urgent surgery. Immediate consequences were marked by the installation of a severe septic shock causing the patient’s death. CONCLUSION Turcot syndrome is a rare but quite serious disease characterized by clinical polymorphism and often late diagnosis. It must be searched in front of evocative personal or family history. Molecular genetic allows early selection of subjects at risk and access to early stages treatment.