Abstract
Tuberous sclerosis (Pringle-Burneville disease) is a polysystemic genetic disease and occurs in the population with a frequency of 1:50000. Objective of the study. To study neuropsychic status and dynamics of tuberous sclerosis development in children. Material and Methods. Have been examined 33 children aged from 1 to 14 years, who were observed in the neurological pediatric department of the University Clinic ("Aksay") of Asfendiyarov KazNMU. All children had apigmented spots and coffee-milk stains on the torso and extremities, not protruding above the skin level. All children showed characteristic neuroimaging changes in the brain by magnetic resonance imaging (MRI) and computed tomography (CT) - areas of dyshinesia cortically and subcortically, i.e. tubercles. As well as changes in internal organs (hamartoma variants). All children underwent a complete laboratory examination (general blood count, standard biochemical parameters), electroencephalography of the brain (EEG), as well as ultrasound examination of internal organs. Results and conclusions. As a result of our study, it was revealed that the main symptom confirming the diagnosis of tuberous sclerosis is the presence of tubers (95-100% of patients). Moreover, there is a topographical relationship between tubers detected during MRI examination and the presence of foci on the EEG. Thus, a particular manifestation of the disease in patients is symptomatic epilepsy with onset in the first months of life (96% of patients). Keywords: tuberous sclerosis, epilepsy, children, hamartomas, pigmented spots, cortical dysgenesis, tubers.