Epilepsy treatment and seizure prognosis in neurocutaneous diseases

Objective: The aim of this study was to evaluate the presence of epilepsy, its treatment, seizure prognosis, and factors influencing these aspects in patients with neurocutaneous disorders, specifically tuberous sclerosis (TSC), neurofibromatosis type 1 (NF1), and Sturge Weber Syndrome (SWS). Materials and Methods: A total of 52 patients diagnosed with NF1, SWS, and TSC and followed up at the Department of Neurology, Faculty of Medicine, Cukurova University, between 1990 and 2021, were included in this study. Demographic data such as gender, age, educational level, family history of epilepsy, clinical findings including seizure frequency, antiepileptic drug use, age of seizure onset, seizure type, as well as laboratory findings including electroencephalography (EEG) and cranial magnetic resonance imaging (MRI) were evaluated retrospectively with the approval of the Cukurova University Faculty of Medicine Ethics Committee. Results: Of the 52 patients included in the study, 27 (51.9%) had NF1, 23 (44.2%) had TSC, and 2 (3.8%) had SWS. The age of seizure onset was determined to be 16.4±12.5 years in NF1, 5.78±8.6 years in TSC, and 6.00±7.1 years in SWS. Seizure presence was detected in 33 (63.5%) of the patients, with an average seizure frequency of 8.33±7.9. Antiepileptic drug use was observed in 48 (92.3%) patients, with an average number of antiepileptic drugs used being 1.81±0.9. The most commonly used drugs were carbamazepine in 24 (50.0%) patients, valproic acid in 23 (47.9%), and levetiracetam in 18 (37.5%). Seizure types included focal onset bilateral tonic-clonic seizures in 36 (69.2%) patients, focal motor seizures with preserved awareness in 12 (23.1%), and generalized onset motor and non-motor types in 8 (15.4%). EEG findings revealed normal results in 8 (15.4%) patients, diffuse slow waves in 9 (17.3%), focal slow waves in 16 (30.8%), and focal epileptic features in 19 (36.5%). Among the patients, 7 (13.5%) had normal cranial MRI findings, while 45 (86.5%) had abnormal findings. Mental retardation was present in 15 (28.8%) patients. Upon analyzing the average number of seizures per year in 48 medicated patients, those using a single drug experienced an average of 3.92±3.8 seizures per year, while those using two drugs experienced 12.6±8.3 seizures per year, and those using more than three drugs experienced an average of 10.5±8.5 seizures per year. Conclusion: Neurocutaneous disorders require a multidisciplinary approach for accurate diagnosis and treatment, which is critical for seizure prognosis and cognitive outcomes. Further studies encompassing more detailed and extensive patient data are warranted to provide further insights into these conditions. Keywords: Epilepsy, Neurocutaneous disorders, Neurofibromatosis type 1, Sturge-Weber Syndrome, Tuberous sclerosis