[Rett syndrome. Review of the literature and presentation of 2 clinical cases].
In this paper we report the cases of two girls affected by a progressive encephalopathy. Both stories are similar. After a normal development in the first year of life, neurological regression occurred since the beginning of the second year. This progressive syndrome led within a few months to a loss of any verbal acquisition, loss of purposeful use of the hands, dementia, autism. Other neurological alterations occurred in the following years: piramidal signs at lower limbs, generalized and partial seizures, ataxia, gait apraxia. All laboratory findings were normal in both girls. The EEG was abnormal in both patients and the patterns were quite the same in following records of both girls. The disease occurred in our patients is quite certainly the same described by Rett for the first time in 1966.
D001927:Brain Diseases / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D009069:Movement Disorders / Q000175:diagnosis*; D013577:Syndrome
Sindrome di Rett. Revisione della letteratura e presentazione di due casi clinici.