Syndromic Manifestation of Tuberous Sclerosis: A Case Series

Introduction: Epilepsy is a common neurological feature of tuberous sclerosis complex (TSC), seen in 62 to 93% of patients. Seizure onset typically occurs within the first year of life, often presenting initially as focal seizures, which may precede, coexist with, or evolve into infantile spasms. About two-thirds of patients develop treatment-resistant epilepsy with associated intellectual disability and TSC-associated neuropsychiatric disorders (TAND).

Case Series: We report 10 cases of epilepsy in TSC. The median age of seizure onset was 13.5 months (range: 3 months to 11 years); 50% had seizures within the first year. Focal seizures were seen in 60%, epileptic spasms in 50%, and generalized seizures in 50%. Focal seizures and spasms coexisted in 40% of cases; spasms preceded focal seizures in 20%, while focal seizures preceded spasms in 20%. Developmental delay or intellectual disability was present in 80%. MRI revealed cortical tubers and subependymal nodules in 70%. Two patients received cannabidiol; one had a 50% seizure reduction, and the other became seizure-free after 2 months.

Conclusion: Epilepsy in TSC is heterogeneous, presenting as West syndrome, Lennox-Gastaut syndrome, or focal epilepsy syndromes.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
24 October 2025