Abstract Introduction Tuberous sclerosis is a genetic disorder characterized by multi-system involvement, including pulmonary and neurological involvement. OSA is a significant co-morbidity often underdiagnosed, and its timely evaluation and management can lead to improved outcomes. Report of case(s) The patient is a 45-year-old with a history of HTN, seizure disorder, and recently diagnosed with OSA. While he was in elementary school, the patient was diagnosed with tuberous sclerosis on testing, with a mother and brother who also suffered from the same condition. At the time, he suffered from seizures with the last seizure occurring in middle school and is currently being followed by Neurology for seizure prevention and migraine management associated with the condition. An MRI of the brain with contrast was performed in 2022 showing stable calcified subependymal nodules suggesting likely cortical tubers consistent with the disease process. He is not currently being followed by Pulmonology for any related lung conditions. In 2023, he was seen in our Sleep clinic with complaints of frequent night awakenings, snoring, witness apnea events, and daytime sleepiness. A polysomnogram was performed and confirmed the presence of moderate OSA with an AHI of 20.4 events per hour. He was initiated on Continuous Positive Airway pressure (CPAP) therapy at that time and has shown significant improvement in his sleep quality on therapy despite suboptimal usage; as well as an improvement in his blood pressure and overall quality of life. Conclusion Sleep disorders are highly prevalent in TSC, affecting 59.3% of the pediatric population and 46% of adults. Patient with Tuberous sclerosis and OSA demonstrated improvement in his overall health with PAP therapy without significant barriers or complications given his underlying genetic condition. Early detection and treatment of sleep disorders may ameliorate behavior and attention difficulties; and active surveillance is recommended to reduce disease burden and improve outcomes. Support (if any)
Azubuko-Udah et al. (Fri,) studied this question.