1035 Joubert Syndrome and severe central sleep apnea treated with noninvasive ventilation: A case report

Abstract Introduction Joubert syndrome is an autosomal recessive heterogenous ciliopathy characterized by cerebellar vermis hypoplasia resulting in ataxia, hypotonia, developmental delay, neonatal respiratory dysregulation, and abnormal eye movements. It is typically accompanied by the pathognomonic “molar tooth sign” on brain MRI. Primary central sleep apnea has been described in case reports about this condition, however given the rarity of this disease, there are very few studies conducted on these patients. Our goal is to share our treatment approaches for the sleep disturbances seen in these patients. Report of case(s) A 6-year-old female from Kuwait with a history of Joubert syndrome and global development delay presented at UCMC for evaluation of sleep issues. During the history taking, patient’s mother reported that the patient was born with acute respiratory failure shortly and required CPAP therapy in the NICU. She later developed tachypnea and cyanosis during feedings, which prompted further evaluation. A subsequent brain MRI demonstrated a molar tooth sign consistent with Joubert Syndrome. Patient required supplemental oxygenation due to nocturnal desaturations found on pulse oximetry. Due to persistent apneas and chokings during sleep, the patient underwent a repeat diagnostic polysomnogram with an electroencephalogram at our institution demonstrating severe central sleep apnea most predominant during NREM sleep. An extended montage of the EEG did not show any epileptiform discharge. This was followed by a mask de-sensitization and an inpatient PAP titration study during which BPAP therapy ST mode with a backup rate of 8 breath/minute successfully treated the patient’s primary central sleep apnea. Patient also underwent a multidisciplinary consultation with PM&R, speech therapy and ophthalmology due to her ataxia, speech delay, and need to assess for retinal dystrophy, respectively. Conclusion Sleep disordered breathing in the neonatal period is an early presentation in Joubert syndrome with central sleep apnea being the primary sleep disordered breathing. Fortunately, the clinical course of sleep disordered breathing does improve with treatment overtime, as in our case. Treatment options include conservative treatment, oxygen supplementation or PAP therapy. In our case, BPAP with ST mode was the most effective modality despite the need for mask desensitization and initial hesitation with using a PAP device. Support (if any)