Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus

Michał Sobstyl; Paweł Jezierski; Magdalena Konopko; Angelika Stapińska-Syniec

doi:10.1016/j.ebr.2023.100637

Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus

Epilepsy Behav Rep. 2023 Dec 1:25:100637. doi: 10.1016/j.ebr.2023.100637. eCollection 2024.

Authors

Michał Sobstyl¹, Paweł Jezierski², Magdalena Konopko², Angelika Stapińska-Syniec¹

Affiliations

¹ Department of Neurosurgery, Institute of Psychiatry and Neurology, Sobieskiego 9 Street 02-957, Warsaw, Poland.
² 1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, Poland.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes TSC1 or TSC2. TSC is characterized by the formation of multiple tumors in various organs. The most common neurological manifestation of the disorder is epilepsy present in 79-90% of cases. At least one-third of TSC patients develop drug-resistant epilepsy (DRE) which remains a great challenge for clinicians. Neuromodulation is an option in cases of multifocal epilepsy, epilepsy originating in eloquent areas, or the inability to identify the ictal onset zone. Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) may be used in the treatment of multifocal DRE. Here, we present a case of a patient with multifocal DRE caused by TSC, who was treated with ANT-DBS. A follow-up period of eight months showed that the patient's multifocal DRE was successfully treated by ANT-DBS.

Keywords: Anterior nucleus of the thalamus; Deep brain stimulation; Multifocal drug-resistant epilepsy; Tuberous sclerosis complex.

Publication types

Case Reports