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

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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.

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Funding

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Department of Pediatrics B, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

    Omer Shlomovitz

  2. Pediatric Neurology Units, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Ramat Gan, Israel

    Bruria Ben-Zeev & Michal Tzadok

  3. Dermatology Department, Pediatric Dermatology Service, Sheba Medical Center, Ramat Gan, Israel

    Shoshana Greenberger

  4. Division of Pediatric Nephrology, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Ramat Gan, Israel

    Oren Pleniceanu & Einat Lahav

  5. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Oren Pleniceanu, Shoshana Greenberger & Sharon Mini

  6. The Institute of Nephrology and Hypertension, Sheba medical center, Ramat Gan, Israel

    Sharon Mini

Authors
  1. Omer Shlomovitz
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  2. Bruria Ben-Zeev
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  3. Oren Pleniceanu
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Correspondence to Omer Shlomovitz.

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Shlomovitz, O., Ben-Zeev, B., Pleniceanu, O. et al. An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies. Childs Nerv Syst 37, 3827–3833 (2021). https://doi.org/10.1007/s00381-021-05348-9

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  • DOI: https://doi.org/10.1007/s00381-021-05348-9

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