SciELO - Scientific Electronic Library Online

 
vol.10 número1Adenocarcinoma mucinoso de pelvis renal. Presentación de un casoCaracterísticas morfométricas del timo fetal índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


MediSur

versión On-line ISSN 1727-897X

Resumen

PADRóN GONZALEZ, Julio; PEREZ MEJIAS, Ramón; PADRóN FERNANDEZ, Lidys  y  PADRóN FERNANDEZ, Leydis. Rett Syndrome. A Case Presentation. Medisur [online]. 2012, vol.10, n.1, pp.69-71. ISSN 1727-897X.

Rett syndrome is a neurological disorder of genetic basis. It affects almost exclusively girls and women being the estimated incidence of this disease in the general population of one case per 10,000 women. In its classical type it is of one in every 15. 000 births. Its diagnosis is descriptive, based on a set of signs and symptoms, but not etiologic. Treatment is symptomatic and supportive. Rett syndrome is frequently misdiagnosed as autism or cerebral palsy. It should be suspected in female patients, diagnosed with child cerebral palsy or idiomatic mental retardation, supported by internationally established criteria. The case of an 11 years old girl visited at her home and attended by doctors of the Barrio Adentro mission in the Bolivarian Republic of Venezuela is presented. The patient was normal until about two years old when she began presenting impairment of psychomotor skills, social and behavioral disorders with infantile autism traits, seizures and considerable mental retardation.

Palabras clave : Rett syndrome; case reports; Venezuela.

        · resumen en Español     · texto en Español     · Español ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons