Evaluation of childhood neurocutaneous disease cases with clinical, radiologic and follow-up findings

Objective: The aim of this study was to evaluate the clinical, radiological and systemic findings of pediatric cases diagnosed with Neurofibromatosis Type 1 (NF1) and Tuberous Sclerosis Complex (TSC). Materials and Methods: Data of 145 patients diagnosed with NF1 and 53 patients diagnosed with TSC who were followed up at the Inonu University Faculty of Medicine, Pediatric Neurology Clinic between 2010 and 2024 were retrospectively examined from hospital records. Results: The mean age at diagnosis of 145 patients with NF1 was 75.2 ± 56.7 months (mean: 75.24 months). Of the patients, 74 (51.0%) were female, 71 (49.0%) were male, and 68 (46.9%) had a family history. Epilepsy was detected in 13 (9.0%) of the patients diagnosed with NF1. Hyperintense lesions were observed in 107 (73.8%) of the brain MRI. No statistically significant difference was found in the comparison of epilepsy, psychiatric findings, EEG and MRI findings according to the age groups of the patients (p>0.05). However, the development of psychiatric comorbidities was higher in male patients and was found to be significant (p=0.047). Similarly, hyperintense lesions were detected more in males and were observed to be statistically significant (p=0.034). However, no statistically significant difference was found between genders in terms of epilepsy development (p>0.05). The mean age at diagnosis of 53 patients with TSC was 37.4 ± 47.3 months (mean: 37.4 months). Nineteen (35.8%) of the patients were female, 34 (64.2%) were male, and 12 (22.6%) had a family history. Epilepsy was observed in 41 (77.4%) patients diagnosed with TSC. According to the age groups of TSC patients, hyperintense lesions in MRI were seen more frequently in children under 2 years of age and in the adolescent age group, and this difference was found to be statistically significant (p=0.041). However, no significant difference was found in the comparison of epilepsy, psychiatric results and EEG findings in terms of age groups and gender (p>0.05). Conclusion: Our study data show that differences in certain clinical and radiological findings may be observed depending on age and gender. This supports the importance of personalized approaches in patient follow-up. Keywords: Neurocutaneous diseases, Neurofibromatosis Type 1, Tuberous sclerosis, clinical findings, radiological findings, childhood.