Clinical Neurophysiology Fellow New-York Presbyterian Weill Cornell Medical Center New York, New York
Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with substantial phenotypic variability. Children with TSC are at high risk of epilepsy and often present with seizures within the first two years of life. TSC may be diagnosed, or suspected, in utero or at birth due to the presence of characteristic features (e.g., cardiac rhabdomyoma). Current guidelines recommend that pediatric patients with TSC should have a baseline electroencephalogram (EEG), but the timing is not specified. Seizures in neonates are frequently without an accompanying clinical correlate, suggesting the potential for unrecognized active epilepsy in babies with TSC. Here, we describe a series of neonates with TSC monitored with long-term video-EEG found to have recurrent subclinical seizures. Methods: We retrospectively analyzed the medical records, video-EEG recordings, and genetic results of an international series of infants who were diagnosed in the NICU with TSC by clinical or genetic criteria. Infants were included if neurology was consulted and EEG showed subclinical seizures. Results: A total of six neonates with clinically-diagnosed TSC and subclinical seizures on screening EEG were identified. All six patients were diagnosed prenatally with cardiac rhabdomyomas prompting work-up for TSC. All patients had MR imaging in the neonatal period that demonstrated cortical tubers and/or subependymal nodules. Tuberous sclerosis testing revealed a pathogenic variant in the TSC2 gene in four infants and a mutation in TSC1 in one infant. Variants in the TSC2 gene included, deletion (1), frameshift (1), stop-gain (1) and splice site (1). Conclusions: This is the first case series to describe neonates with TSC studied with continuous video-EEG in the early neonatal period, and found to have subclinical seizures. Our results argue for long-term monitoring in neonates with suspected or confirmed TSC, given the risk for unrecognized active epilepsy. Funding: Please list any funding that was received in support of this abstract.: The author(s) received no specific funding for this work. Click here to view image/table
