1154 Life Threatening Obstructive Sleep Apnea in a Patient with Joubert Syndrome and Pierre Robin Sequence

Abstract Introduction Joubert syndrome is a recessive, multisystem genetic disorder classically resulting in cerebellar and brainstem malformations recognizable as the “Molar Tooth Sign” on magnetic resonance imaging (MRI). Respiratory complications in these patients include disordered control of breathing, hypoventilation, central sleep apnea and hyperpnea. Obstructive sleep apnea and Pierra Robin syndrome have also been reported, however the use of mandibular distraction in the population has not been well described. Report of case(s) Here we present a 17-month-old male who was diagnosed with Joubert syndrome at 2 months of age after MRI imaging demonstrated the “Molar Tooth Sign” and whole exome sequencing identified a CEP41 mutation. He was also found to have micrognathia, retrognathia and glossoptosis consistent with Pierre Robin sequence. Polysomnography (PSG) in the prone position (as patient did not tolerate the supine position) demonstrated an obstructive apnea hypopnea index (oAHI) of 19.3. Based on this study, mandibular distraction was performed. Following this procedure, the patient was weaned to room air. His respiratory status later worsened, with frequent apneas requiring bilevel positive pressure support (BPAP). A titration PSG was performed, but no acceptable BPAP setting was found. Tracheostomy was discussed, and ultimately the family declined. The patient improved on BPAP with intermittent breaks with low flow nasal oxygen when awake. On follow up, the patient’s respiratory status improved and he was tolerating BPAP therapy with sleep without issue. However, during a respiratory illness the patient unfortunately passed away. Conclusion Respiratory and sleep-related complications are frequent in patients with Joubert syndrome. This case emphasizes the importance of the recognition and treatment of these complications and points to the need for further research of this population. This case is also unusual as the use of mandibular distraction in patients with Joubert syndrome is not frequently described. Support (if any) Bachmann-Gagescu, Ruxandra, et al. "Healthcare recommendations for Joubert syndrome." American journal of medical genetics Part A 182.1 (2020): 229-249.