The Effect of the Age at Seizure Onset on Seizure Resistance in Tuberosclerosis Patients

Objective: To evaluate the clinical status of epilepsy, which is extremely widespread in tuberosclerosis patients and the findings and characteristics of a paediatric case series. Methods: The study included paediatric patients diagnosed with tuberosclerosis from clinical or genetic examination who were followed up between 2015 and 2022 in the Paediatric Neurology and Paediatric Genetics Clinics of Necmettin Erbakan University Meram Medical Faculty Hospital. A retrospective examination was made of the clinical characteristics of the patients, the electroencepahalography (EEG) reports, and radiological findings (magnetic resonance imaging [MRI], ultrasonography, echocardiography). The patients were separated into two groups of monotherapy and polytherapy according to the number of drugs used, and the groups were compared in respect of the time of onset of epilepsy. The patients were also categorised according to the presence of cortical tuber and subependymal nodule and these groups were compared in respect of the presence of epilepsy. Results: The 27 patients comprised 18 (66.6%) males and 9 (33.4%) females. Complaints on presentation were seizure and skin patches in 25 (92.5%) cases and only skin patches in 2 (7.5%). The most common finding determined on MRI was the combination of subependymal nodule and cortical tuber (51.8%). Autism spectrum disorder was present in 5 (18.5%) patients and mental retardation in 16 (59%). The age at onset of epilepsy was earlier in the polytherapy group [5±4.75 (1-18) months] than in the monotherapy group [8.0±16 (4-36) months] (p=0.032). The rates of presence of cortical tuber and subependymal nodule were similar in respect of the time of onset of epilepsy (p>0.05). Conclusion: The early onset of epilepsy in tubersclerosis patients indicates that it may have a resistant course and there may be a need for polytherapy. There may also be accompanying neuropsychiatric retardation in these patients. The clinical status of epilepsy in tuberosclerosis was found to be similar in the cortical tuber and subependymal nodule groups.