An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.

Abstract

AIM:

We aimed to describe the experience of a large single-center cohort for the clinical, radiological, and genetic characteristics, as well as to determine the efficacy of different anti-epileptic strategies in children and adults with tuberous sclerosis complex (TSC).

METHODS:

We carried out a historical cohort study on 91 TSC patients treated in a single center between 2008 and 2018.

RESULTS:

Our cohort comprised 46 males and 45 females, with a median age of 15.6 years at the last follow-up. Mean follow-up time was 2.5 ± 0.75-5.5 years (range 0-9.5 years). Of those tested, a disease-causing mutation was identified in 90% of patients, 53% in TSC2, and 37% in TSC1. Epilepsy prevalence was similar among TSC1 and TSC2 mutated patients. The most common radiological finding were cortical tubers in 95% of patients, while subependymal giant cell astrocytoma (SEGA) were detected in 36% of patients. Notably, infantile spasms (IS) were diagnosed in 29%, with SEGA representing the only finding significantly different in prevalence between those with and without IS (62% vs. 28%, respectively, p = 0.009). Lastly, we did not find any difference in efficacy between three anti-epileptic treatments: Vagus nerve stimulation (VNS), CBD-based products, and the ketogenic diet, all showing approximately 30%-40% response rates.

SIGNIFICANCE:

Altogether, we provide a comprehensive description of our experience in treating TSC, which could serve to expand current knowledge of the disease and its treatments.

• Authors: Omer Shlomovitz, Bruria Ben-Zeev, Oren Pleniceanu, Shoshana Greenberger, Einat Lahav, Sharon Mini, Michal Tzadok
• Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (Childs Nerv Syst) Vol. 37 Issue 12 Pg. 3827-3833 (12 2021) ISSN: 1433-0350 [Electronic] Germany
• PMID: 34491422 (Publication Type: Journal Article)
• Copyright: © 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Chemical References

• Anticonvulsants

Topics

• Adolescent
• Anticonvulsants (therapeutic use)
• Astrocytoma
• Cohort Studies
• Epilepsy (epidemiology, etiology, therapy)
• Female
• Humans
• Male
• Tuberous Sclerosis (diagnostic imaging, epidemiology, therapy)