Tuberous sclerosis:pathogenetic mechanisms and epilepsy treatment

Background. Tuberous sclerosis is a rare multisystem genetic disorder belonging to the group of phakomatoses. It is characterized by the formation of benign tumors (hamartomas) in various organs, including the brain, skin, kidneys, heart, lungs, eyes, and by neurological syndromes, among which epileptic seizures and neuropsychiatric disorders are the most common. Neurological syndromes of tuberous sclerosis are the most severe, as they are associated with high morbidity and mortality, particularly in children. In most cases, the disease presents with convulsive syndrome during the frst year of life. These seizures are usually difcult to treat and do not respond to most anti convulsant drugs. This resistant form of epilepsy is frequently accompanied by neurodevelopmental disorders – developmental delays, intellectual disabilities, autism spectrum disorders, and attention defcit hyperactivity disorder. Accurate diagnosis and awareness of this disease are essential for diferential diag nosis, medical monitoring, and appropriate treatment. Purpose – еarly detection and timely, adequate treatment of this pathology are crucial for preventing irreversible damage and improving prognosis and patient’s quality of life. This work aims to raise awareness among neurologists, ophthalmologists, dermatologists, and cardiologists, as specialists who most often encounter this syndrome in clinical practice, since tuberous sclerosis and epilepsy associated with this disease require prompt and aggressive treatment. Materials and Methods. A comprehensive review of the current scientifc literature was conducted, including original studies, meta-analyses, review articles, and randomized trials available in PubMed, ScienceDirect, and Oxford Academic. Results. Successful diagnosis and treatment of epilepsy associated with tuberous sclerosis require a deep understanding of its pathogenesis and etiology. Early diagnosis and correctly selected treatment strategy are crucial in ensuring quality of life with the least number of complications. Vigabatrin is considered the most efective frst-line medication, providing seizure control in the majority of cases. In pharmacoresistant forms, combination therapy with mTOR inhibitors (everolimus, sirolimus) is recommended. In severe cases, surgical interventions, particularly resection procedures and laser interstitial thermal therapy, have demonstrated signifcant efcacy. Therefore, comprehensive approach involving detailed medical history, high-quality physical examination, and additional diagnostic methods (brain MRI, EEG, and genetic testing) is important. Conclusions. Despite numerous studies, increasing physician awareness, and progress in diagnostics and treatment, epilepsy management in tuberous sclerosis remains challenging and requires a multidisciplinary approach. Current therapeutic strategies – including anticonvulsants, mTOR inhibitors, and surgical methods – show promise but require optimization, improved accessibility, and an individualized approach that considers each patient's genetic and clinical characteristics.