Rett syndrome: what do us Primary Care pediatricians should know? A case report
Reference of this article: Navarro Quesada FJ, Gracia Alfonso MA, Camino León R, Espejo Comino D, Pedraza Martínez C. Rett syndrome: what do us Primary Care pediatricians should know? A case report. Rev Pediatr Aten Primaria. 2007;9:455-74.
Published in Internet: 30-09-2007
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
Keywords● Autism ● Mental deficiency ● Rett syndrome ● Stereotypic movements of the