Abstract

AVINA FIERRO, Jorge Arturo  and  HERNANDEZ AVINA, Daniel Alejandro. Síndrome de Rett: microcefalia con retardo mental y autismo. Reporte de un caso. Arch. Pediatr. Urug. [online]. 2007, vol.78, n.3, pp.228-230. ISSN 1688-1249.

Summary Rett syndrome is a severe neurodevelopment disorder which affects exclusively women. It is considered a dominant disease linked to the X chromosome; it is due to mutations in the MECP2 gene which encodes the methyl-CpG binding 2 protein. This patient had a normal development until 18 months of age, then a deterioration of her psychomotor skills with ataxia and loss of purposeful use of the hands began; the behavioral and social areas were also affected with autism and progression to profound mental retardation. The syndrome is misdiagnosed often as autism or cerebral palsy and has no specific treatment.

Keywords : RETT SYNDROME; MICROCEPHALY; MENTAL RETARDATION; AUTISTIC DISORDER.

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