1220 Polysomnography in Children with Joubert Syndrome

Abstract Introduction Joubert syndrome is autosomal recessive, clinically and genetically heterogeneous with multiorgan involvement. Classic breathing symptoms include episodes of hyperpnea followed by apnea and periodic breathing. Gas exchange abnormalities include hyperventilation with low CO2s and intermittent desaturations. Purpose of this abstract is to report prolonged survival, describe the PSG findings and treatment modalities in 2 cases. Report of case(s) 8-year-old female with Joubert syndrome, global developmental delay, hydrocephalus, hypotonia, cortical blindness presented for initial evaluation of sleep apnea. PSG revealed primarily central sleep apnea with upper airway resistance with snoring with arousal and few episodes of obstructive and mixed apnea and hypopnea. Gas exchange demonstrated episodic, brief desaturations, associated with central apneas. Repeat PSG at 13 years showed intermittent hyperpnea followed by apnea, low ETCO2s with self-limiting desaturations and periodic breathing. Gas exchange revealed low ETCO2 and desaturations. She was treated with clinical observation. PSG at age 20 year demonstrated intermittent hyperpnea followed by episodes of prolonged central apneas, with low ETCO2s and desaturations, and few obstructive hypopneas. Most central apneas associated with self-limiting desaturations, with significant number associated with oxygen saturation below 90%. Gas exchange demonstrated low ETCO2s and episodic desaturations. Supplemental oxygen was prescribed. 20-month-old female with diagnosed Joubert syndrome, cleft lip, polydactyly, hypotonia, dysphagia, and developmental delay presented for loud snoring and gasping during sleep and apneas while awake. Sibling with Joubert Syndrome and a tracheostomy had died. Presented for a second opinion for tracheostomy due to PSG at OSH demonstrating OSAHS with AHI of 18.2, OAI of 3.9 and CAI of 14.3, minimal hypoxemia, normal ETCO2 and SaO2 nadir was 75%. Repeat sleep study done at our center; AHI of 27.7 and OAI of 0.83. ETCO2 was normal, SpO2 nadir was 75% and minimal hypoxemia. Overall PSG demonstrated primarily central apneas with a few obstructive apneas and hypopneas and minimal O2 desaturations. Subsequently underwent BLPAP titration study and treated with non-invasive modality. Conclusion PSG in Joubert syndrome demonstrated intermittent hyperpnea and prolonged central apneas with low ETCO2's and brief desaturations. All events were predominantly present in REM sleep. Patients did well with low respiratory support and did not require tracheostomy. Support (if any)