1039 The Progression of Sleep-Related Breathing Disorders in a Patient with Joubert syndrome

Abstract Introduction Joubert syndrome (JS) is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Among potential health challenges that children with congenital central nervous system including JS, may face, sleep concerns are frequent include sleep-related breathing disorders (SRBDs). Report case(s) A 17-month-old female JS was referred to pediatric pulmonary clinic due disrupted fragmented sleep. She had nocturnal awakenings, snoring, mouth breathing, witnessed apneas. There no family history SRBDs. Physical exam notable for high-arched palate, diffuse intermittent periods tachypnea followed apneas, even when awake. Her polysomnography (PSG) demonstrated an apnea-hypopnea index (AHI) 27.1/hour, obstructive (oAHI) 18/hr apnea (CAI) 9.1/hr nadir oxygen saturation (SpO2) 87%. An attempt made initiate supplemental oxygen; however, patient did not tolerate cannula. At time, neither adenoid nor tonsillar hypertrophy were noted surgical intervention indicated. The repeat PSG one year later AHI 9.1/hour, oAHI 4.7/hr CAI 4.4/hr SpO2 84%. this she demonstrate enlarged adenoids tonsils underwent adenotonsillectomy some clinical improvement in snoring. mother continued pauses post operative 12.8/hour, 1.4/hr 11.4/hr 79%. worsening episodic apneas decision initiation assist device regulate ventilation. Due patient’s age, intensive therapy desensitization required allow her positive airway pressure therapy. Conclusion Patients at high risk complex SRBDs as part their presentation. It therefore important carefully monitor character sleep-disordered offering appropriate treatments where note added young patients who often require deliberate interventions proceed successful treatment. Support (if any)