Clinical Reviews
Rett syndrome: what do us Primary Care pediatricians should know? A case report
Authors:
Navarro Quesada FJa, Gracia Alfonso MAb, Camino León Rc, Espejo Comino Dd, Pedraza Martínez Ce
Reference of this article.:
Navarro Quesada FJ, Gracia Alfonso MA, Camino León R, Espejo Comino D, Pedraza Martínez C. Síndrome de Rett: ¿qué debemos saber los pediatras de Atención primaria? A propósito de un caso. Rev Pediatr Aten Primaria. 2007;9:455-74.
Published in Internet: 30/09/2007
Abstract:
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.Keywords: Mental deficiency. Autism. Rett syndrome. Stereotypic movements of the.
El contenido íntegro del artículo estará disponible en formato web próximamente. Mientras tanto puede descargarlo en formato Acrobat Reader (PDF).
Comments
This article has no comments yet.