Epidemiological, clinical, radiological and genetic findings in pediatric patients diagnosed with tuberous sclerosis

Aim: Tuberous sclerosis is a genetic neurocutaneous disease characterized by multisystem involvement, inherited as an autosomal dominant trait or caused by sporadic mutations. The aim of this study is to evaluate the epidemiological, clinical, radiological and genetic findings of pediatric patients followed up with the diagnosis of tuberous sclerosis, to examine the clinical reflections of variations in patients and to investigate the effects of all these on prognosis. Materials and Methods: For the study, ethics committee approval was received from the Çukurova University Faculty of Medicine Non-Interventional Clinical Research Ethics Committee with the date 08.12.2023 and decision number 17. This study included 41 patients under the age of 18 who were admitted to the Department of Child Health and Diseases-Child Neurology Department of Çukurova University Faculty of Medicine between 1996 and 2025 and diagnosed with tuberous sclerosis according to the diagnostic criteria revised by Northrup et al. in 2012. Results: Forty one patients were included in the study. The mean age onset of symptoms was 5,9±5,8 months, and the median was 5 months. 58,5% of the patients were female (n=24) and 41,5% were male (n=17). The presence of tubers in the temporal lobe in the first neuroimaging of the patients was found to be statistically significant in terms of the presence of epilepsy (p=0,048). The presence of tubers in the temporal lobe in the first neuroimaging (p=0,039) and in the temporal, frontal and occipital lobes in the last neuroimaging (p=0,018, p=0,039, p=0,018 respectively) were significant between the groups with and without refractory epilepsy. The age of epilepsy onset was lower in the TSC2 group compared to TSC1 (p=0,016). The number of tubers in the first and last neuroimaging and the number of subependymal nodules in the first neuroimaging were higher in the TSC2 group (p=0,043, p=0,038, p=0,027 respectively). Patients with normal intelligence were found to be more numerous in the TSC1 group (p=0,035). Conclusion: Earlier symptom onset, more widespread cerebral involvement, cognitive and developmental problems, more severe and widespread organ involvement, and increased frequency and severity of epilepsy have been observed in TSC2 mutations. In addition, neurological signs and symptoms as well as other system involvements reveal the importance of early diagnosis, comprehensive evaluation and genetic tests in tuberous sclerosis and the necessity of developing a multidisciplinary strategy in clinical follow-up.