Un caso de síndrome de Rett

Abstract

A case of classic Rett syndrome is reported in a 5 year-old girl. The diagnosis was difficult in the initial phase due to the variation the clinic symptoms in the different phase of the illness. Between 6 and 18 months of age the diagnosis given was hypotimia syndrome, infantile cerebral paralysis. Between 2 and 3 ½ years of age the diagnosis was autism, progressive encephalopathy, mixed retard of cognitive and psychomotor development. At 4 years of age the illness arrived to its third phase and there was no more regression of the illness. The girl was clinically stabilized, the autistic features diminished, and we were able to make an approach to the clinical diagnosis of the classic Rett syndrome, according Baden-Baden. This is an interesting pathology due to its low frequency, for being practically unknown to the health professionals, and due to the great diversity of clinical symptoms through the different phases of the evolution of the illness, necessary to have the diagnosis of the syndrome and in this way to be able to offer the appropriate treatment