Rett syndrome: what do us Primary Care pediatricians should know? A case report

Abstract Rett syndrome (RS) is a neurodegenerative disease with characteristic clinical signs. It is a very rare genetic disease affecting almost exclusively females. It is associated with mutations of the MECP2 gene (methyl-CpG binding protein gene) located in the long branch of the X chromosome (Xq28). RS causes a slow progressive disability affecting all the organs in the body with loss of quality of life for the patient and the family. Treatment is supportive. We describe a case of a 15 year old female with classical RS together with a literature review about the syndrome, diagnosis, therapeutics and family support available. First opinion pediatricians should include RS in the list of differential diagnoses when presented with a young female patient with abnormal psychomotor development, loss of normal use of the hands with stereotypic movements and autistic behaviour. Key words: Rett syndrome, Mental retardation, Autism, Stereotypic movements of the hands, MECP2.