Omer Shlomovitz1, Bruria Ben-Zeev2, Oren Pleniceanu3,4, Shoshana Greenberger5,4, Einat Lahav3, Sharon Mini4,6, Michal Tzadok2. 1. Department of Pediatrics B, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. shlomo.shlomovitz@gmail.com. 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. 3. 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. 4. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 5. Dermatology Department, Pediatric Dermatology Service, Sheba Medical Center, Ramat Gan, Israel. 6. The Institute of Nephrology and Hypertension, Sheba medical center, Ramat Gan, Israel.
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.
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: John R W Yates; Cathy Maclean; J Nicholas P Higgins; Ayla Humphrey; Kate le Maréchal; Michelle Clifford; Iris Carcani-Rathwell; Julian R Sampson; Patrick F Bolton Journal: Arch Dis Child Date: 2011-08-03 Impact factor: 3.791
Authors: Alexander J Valvezan; Molly C McNamara; Spencer K Miller; Margaret E Torrence; John M Asara; Elizabeth P Henske; Brendan D Manning Journal: JCI Insight Date: 2020-04-09