Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

herencia ligada al cromosoma X

 

Síndrome de Rett Revisión de la literatura y presentación de seis casos en el Hospital Pediátrico Dr. Roberto Gilbert E.

Rett syndrome is one of the most common causes of mental retardation in females. It is an X linked dominant inherited disorder characterized by regression of language and motor milestones, acquired microcephaly, severe mental retardation and loss of purposeful use of hands. Its hallmark is a repetitive “hand-washing” movement. In the majority of cases, defects on genes MECP2 and CDKL5 have been identified. On the following report we present our first experience involving Rett Syndrome patients, analyzing their main clinical and electroencephalographic features, progression of disease and its treatment. We also make an update of genetics and treatment options. We believe that this study will provide the necessary tools to make an early diagnosis in our environment, reach the most accurate treatment and the appropriate genetic counseling for the families.

 

Leer artículo completo

 
 
Licencia Creative Commons
Salvo que se estipule lo contrario el contenido de la Revista Ecuatoriana de Neurología está bajo una Licencia Creative Commons Atribución-NoComercial-SinDerivadas 4.0 Internacional.