Schizophrenia in a patient with full mutation of Fragile X gene and intellectual disability: a 'STEP' towards better understanding.

The Fragile X syndrome is the leading hereditary cause of intellectual disability and Autism Spectrum Disorders. There is paucity of information about psychoses in such patients with little follow up. We report a case of schizophrenia in a male patient diagnosed with Fragile X syndrome. The patient has been followed up for a period of 3 years. The diagnostic and management challenges are discussed. This is a unique case of schizophrenia in Fragile X syndrome. We discuss the common molecular pathways to the expression of both schizophrenia and Fragile X syndrome. This is the first case report of schizophrenia in a patient with diagnosis of Fragile X syndrome in Australia.