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

Abstract

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