A 40-year-old male presented to the ER with generalized tonic-clonic seizure. This was his first episode and he gave history of intermittent bloody stools for the past 5 months. MRI scan of the head was done. Colonoscopy was also done. CECT abdomen was also done. What is the most common inheritance of the above condition: –
Correct Answer: Autosomal dominant
Description: This is a case of Turcot's syndrome. 1st image shows the classical butterfly appearance of glioblastoma multiforme. Colonoscopy and CT images show multiple colonic polyps - suggestive of FAP. Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. May be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2). The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. Autosomal dominant inheritance pattern.
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