0500 Sleep Disordered Breathing in Children with Sanjad-Sakati Syndrome

Abstract Introduction Sanjad-Sakati syndrome (SSS) is a rare, autosomal-recessive disorder with an estimated incidence of 1: 600,000 live births. 1 It has been primarily described in patients of Arab descent and manifests with extreme growth and developmental delays, hypoparathyroidism, scoliosis, risk for hypoglycemia, restrictive lung disease (RLD), and craniofacial abnormalities (infantile facies, depressed nasal bridge, micrognathia).1,2 RLD and low pulmonary reserve place affected children at high risk for sleep disordered breathing (SDB). To date, there are no reports of the pattern of SDB in these children. Methods We describe 2 female siblings with SSS who underwent polysomnogram (PSG) to evaluate for SDB. Results Patient one was 14 years old at time of PSG; she had severe short stature and RLD and presented with daytime fatigue and oxygen desaturation. She had baseline tachypnea and small oral and chest cavities. PSG demonstrated central sleep apnea (CSA) cAHI of 3.4/hr and REM dominant hypoventilation (CO2 52 - 67 torr), with 55% of total sleep time (TST) spent with CO2 50 torr. She was treated with BiPAP of 20/6 cw, with back up rate (BUR) 20/min to stabilize hypoventilation. Patient two had a similar clinical presentation; PSG at 19 years of age demonstrated severe REM-dominant CSA (cAHI 10.9/hr, REM cAHI 63.4/hr) with recurrent oxygen desaturations to a nadir of 67% and sleep hypoventilation (CO2 52-60 torr), 63% of TST was spent with CO2 50 torr. She was treated with BIPAP 19/5 with BUR 20/min. Conclusion Children with SSS are at high risk of SDB which is typically characterized by sleep hypoventilation that is worse in REM sleep, with severe REM hypoxemia and frequent CSA. They also tend to have poor sleep patterns, predominantly due to RLD and respiratory control dysfunction. Hence children with SSS should be screened for SDB and early treatment with bi-level positive pressure ventilation is recommended. In addition, these children are at high risk to study in sleep labs as they are at risk for seizures, rapid desaturations and/or hypoglycemia (due to low physiological reserve) and hence should be studied in the in-patient setting. Support (if any) Included 2 references 1. doi:10.7759/cureus.8770 2. doi:10.3390/children9040448