Features of clinical manifestations, diagnosis and therapy of tuberous sclerosis in children

Tuberous sclerosis is a genetic disease from the group of phacomatoses characterized by lesions of the skin, nervous system and internal organs associated with impaired proliferation, migration and
differentiation of neuroglia cells. In tuberous sclerosis, various organs are often affected, and the treatment of newly diagnosed cases of tuberous sclerosis is typically multidisciplinary, creating a challenge for the comprehensive clinical management of patients with tuberous sclerosis. Traditionally, therapy for tuberous sclerosis has primarily consisted of surgical treatment and symptomatic supportive care. However, in recent years, the concept of precision medicine has been proposed, and increasing attention is being given to molecular targeted therapy. The article describes a rare case of a genetically determined polysystem disease – Tuberous sclerosis (Bourneville-Pringle disease). Accurate diagnosis of tuberous sclerosis is of fundamental importance, therefore, the article details modern epidemiological data, genetic and clinical criteria for the diagnosis of the disease and treatment. On the example of the medical history of a patient with tuberous sclerosis, the features of the course of the clinical case are analyzed.

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