Аутизам и туберозна склероза

Abstract

Autism is a frequent manifestation of tuberous sclerosis being reported in up to 60% of the patients. Tuberous sclerosis is developmental disorder of neurogenesis and neuronal migration. Symptoms of CNS involvement are prominent. Brain abnormalities underlying this neurological and behavioral phenotype include areas of focal cortical dysplasia, subependymal nodules, and cortical and subcortical tubers. The authors show case of tuberous sclerosis in 4 and half age girl where next symptoms dominate: epilepsy in early childhood, severe mental retardation and autistic behavior. The diagnostic of the problem is made with clinical-psychological examination (EEG and CT). The authors suggest that early diagnosis of autistic behavior in tuberous sclerosis is very important for making in time adequate programme for educative-behavioral and general reeducative activities and for consultation the parents.