Abstracts

Rationale: Epilepsy is the most common symptom presenting in patients with tuberous sclerosis complex (TSC) mainly in the first year of life. Intractable, early onset of seizures appears to be associated with an increased risk of intellectual disability and the early identification and prompt seizure control seems to be of great importance. This study aimed to describe the incidence and treatment outcome of epilepsy and related clinical factors in prenatally diagnosed TSC patients. Methods: Between 1995 and 2017 in Asan Medical Center Children’s hospital, 51 patients prenatally diagnosed with TSC were analyzed. Twelve patients were excluded because of incomplete data or short term follow-up less than a year. Medical records were assessed for treatment and outcome of epilepsy, electroencephalogram (EEG), brain Magnetic Resonance Imaging (MRI), genetic analysis and neurodevelopmental status. Results: All 39 patients (26 male) were diagnosed as TSC due to cardiac rhabdomyoma detected by prenatal sonography. With median follow-up of 4.4 years (range 1.3–17), 29 patients (74.4%) developed epilepsy and the mean age at seizure onset was 6 months (range, 0.13 to 32 months). Infantile spasms was observed in 22 patients (75.9%) and 21 of whom (95.5%) received vigabatrin as the first treatment and achieved subsequent seizure freedom. In patients with focal epilepsy (N = 23), oxcarbazepine (N = 7) and clobazam (N = 7) were used most frequently. Non-pharmacologic treatment including vagus nerve stimulation (N = 1), ketogenic diet (N = 1) and corpus callosotomy (N = 1) was performed. At final evaluation, sixteen patients (53.3%) are seizure-free for longer than 12 months. Seizure remission was not associated with early seizure onset, the presence of cortical tubers, and TSC 1/2 mutation. The patient with epilepsy were more likely to have poor neurodevelopmental outcome (p = 0.003). Conclusions: This study showed the high incidence of early onset epilepsy in children with prenatally diagnosed TSC and associated poor neurodevelopmental outcomes. All infants prenatally diagnosed with TSC should be closely monitored with EEG follow-up for early diagnosis and treatments of epilepsy. Funding: None