Neurol. praxi. 2026;27(4):295-302 | DOI: 10.36290/neu.2026.050

Tuberous sclerosis complex - neurological aspects, diagnosis and modern treatment

MUDr. Jan Kubek¹, MUDr. Eva Březinová, Ph.D.², MUDr. Edita Marvanová², MUDr. Marta Pažourková³, doc. MUDr. Irena Doležalová, Ph.D.¹

¹ Centrum pro epilepsie Brno, člen ERN-EpiCARE, I. neurologická klinika, Fakultní nemocnice u sv. Anny a Lékařské fakulty Masarykovy univerzity, Brno

² I. dermatovenerologická klinika FN u sv. Anny a Lékařské fakulty Masarykovy univerzity, Brno

³ Klinika zobrazovacích metod, Fakultní nemocnice u sv. Anny a Lékařské fakulty Masarykovy univerzity, Brno

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder caused by mutations in the TSC1 and TSC2 genes. The disease is characterized by the formation of hamartomatous lesions in various organs, particularly the central nervous system, skin, kidneys, heart, and lungs. Neurological manifestations may represent a major determinant of morbidity and long-term prognosis. The most common neurological manifestation is epilepsy, which occurs in up to 80-90% of patients and is frequently drug-resistant, with a risk of status epilepticus and SUDEP (sudden unexpected death in epilepsy). Neurodevelopmental disorders, autism spectrum disorders, behavioral problems, intellectual disability, psychiatric disorders, learning difficulties, and cognitive impairment also represent important components of the clinical phenotype and are collectively referred to as TAND (TSC-associated neuropsychiatric disorders). In recent years, significant advances have been made in both the diagnosis and treatment of TSC, particularly due to an improved understanding of the role of the mTOR (mechanistic/mammalian target of rapamycin) signaling pathway and the introduction of mTOR inhibitors into clinical practice. This article summarizes current knowledge on the neurological manifestations of TSC, diagnostic criteria, treatment options, and recommended surveillance.

Keywords: tuberous sclerosis complex, epilepsy, TAND, mTOR, everolimus, SEGA.

Received: July 8, 2026; Revised: August 27, 2026; Accepted: August 31, 2026; Published: October 2, 2026  Show citation