0997 Severe mixed sleep apnea in a patient with epilepsy and gene mutation EEFIA2

Abstract

Abstract Introduction EEFIA2 gene mutation has been linked with epilepsy and intellectual disability. There have been case series and case reports in the past that have linked the gene mutation with both epilepsy and possible phenotypes of broad nasal bridge and tented upper lip. In previous cases, there has been no description of work up of sleep disordered breathing. Here, we present a case of sleep apnea in a patient with intractable epilepsy and gene mutation. Report of case(s) Patient is a toddler-aged female with epilepsy. She was diagnosed with infantile epileptic encephalopathy with a pathogenic mutation in EEF1A2 gene with intractable generalized myoclonic epilepsy, hypotonia, and developmental delay. She has been on several seizure medications in an effort to obtain seizure control. With medications she has been undergoing side effects of swallowing difficulties and increased sedation. During her neurology epilepsy follow up, she was noted to have frequent nighttime awakenings. She was scheduled to have a combined polysomnography and 24-hour electroencephalogram. Polysomnography performed which showed evidence of severe mixed central and obstructive sleep apnea-hypopnea syndrome with AHI of 100/h, CAI 42/H, OAHI - 57/h, and REM AHI of 106/h. Video Electroencephalogram performed at the same time and showed multiple atonic and myoclonic seizures with multifocal discharges. Patient was evaluated by otolaryngology and was not a candidate for surgical interventions. She was titrated on bilevel positive airway pressure during a split titration sleep study. Conclusion Genetic mutations and their phenotypes are becoming more widely addressed and researched. In this case we present a rare genetic mutation EEFIA2 which has presented as intellectual disability, hypotonia, and intractable epilepsy in this patient. Given some daytime somnolence and nighttime awakenings, a polysomnography was pursued and showed severe obstructive sleep apnea. In cases where phenotypes are not widely known, it is important to screen for sleep disorders. Support (if any)