A rare case of Turcot syndrome

Abstract

Turcot’s syndrome is a rare genetic disorder clinically characterised by concomitant occurrence of primary brain tumour and colorectal polyposis. It is commonly seen in association with two other syndromes, namely, hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). It is characterized by an increased risk for early onset of other tumours including of endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, brain and ovary. We report the rare occurrence of Turcot syndrome in a 13-year-old girl who presented with focal seizure.

Keywords

• Adenomatous Polyposis Coli gene
• familial adenomatous polyposis
• hereditary nonpolyposis colorectal cancer
• mismatch repair gene
• Turcot syndrome