1233 Mitochondrial Myopathy Making It Hard To Sleep! OSA management in Mitochondrial Myopathy with a variant in SNAPC4 and PURA genes

Abstract

Abstract Introduction No standard of care exists for management of sleep disorders/sleep disordered breathing (SDB) and Mitochondrial myopathies. Our case report describes our experience with this condition in a pediatric patient. Report of Case A ten-year-old middle eastern male with PMH of Mitochondrial myopathy was referred to Sleep Medicine by ENT with reported snoring, witnessed apneic spells and daytime fatigue. Flexible Video Laryngoscopy did not reveal tonsillar or adenoid hypertrophy so it was postulated that his OSA was a result of his craniofacial abnormalities and global hypotonia. Genetic workup showed Mitochondrial complex II & III deficiency from a variant in SNAPC4 gene and PURA gene leading to failure to thrive, severe developmental delay, generalized muscle weakness, bradycardia requiring pacemaker, global hypotonia requiring nocturnal oxygen for chronic respiratory failure and G-tube placement due to difficulty with feedings. Diagnostic PSG showed severe OSA with AHI of 11.3, RDI 11.8, REM AHI 56.0, REM RDI 56, and minimum oxygen saturation 85%. Subsequent PAP titration led to initiation of BIPAP therapy with settings of Auto-BiPAP EPAP min 5, IPAP max 20; PSmin 4; PSmax 6 cm H2O and continuation of nocturnal home oxygen. Sleep fragmentation improved to an arousal index of 3.1 with BIPAP. The patient and caregiver presented to the Sleep Medicine clinic 1 month after the PAP titration study with objective report showing >4 hours use >70% of the time and subjective satisfaction with BIPAP therapy with improvement in snoring and apnea. Conclusion Mitochondrial disorders lead to a deficiency of ATP affecting all organ systems and is most recognizable in the form of neuromuscular impairments. Neuromuscular impairments can translate into SDB issues such as OSA. Patients with genetic conditions such as mitochondrial myopathy should be routinely screened and evaluated for SDB and treated if warranted to significantly improve morbidity, mortality and quality of life.