Atypical Rett syndrome diagnosis by molecular testing

AbstractRett syndrome is a neurodevelopmental disorder that leads to regression in language and motor skills. In most cases, it is caused by genetic mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett Syndrome occurs almost exclusively in girls and may be easily misdiagnosed, because its spectrum of clinical characteristics is overlapping with characteristics of other disorders such as autism, ataxic cerebral palsy, atypical Angelman's syndrome, spinocerebellar degeneration, etc. A 16-year-old girl with behavior within the autistic spectrum disorder, moderate to severe intellectual delay and subtle dysmorphic features enrolled in the Shafallah Center for children with special needs, School Unit 1. She is shy, with no sustained eye contact and has secondary seizures. She can use her hands in eating, drinking, painting in the class and she can hold a pencil between the index finger and thumb to do lines and circles, her history shows no regression. The clinical characteristics are closer to the...