1214 A Case of Mixed Obstructive and Central Sleep Apnea in Jacobsen Syndrome

Abstract Introduction Jacobsen syndrome is a rare genetic disorder due to variable deletion lengths on chromosome 11q. The estimated prevalence is only 1/100,000 births in the U.S. Clinical features are multi-system with characteristic facial features, growth and motor retardation, neurocognitive disability, cytopenias, and possible malformations in the CNS, heart, kidneys, and skeleton. Little information is available regarding their sleep and respiratory features. Report of case(s) A 3 month old girl with a history of Jacobsen syndrome presented to an outside sleep lab due to oxygen desaturations on overnight pulse oximetry. She was diagnosed prenatally due to intrauterine growth retardation. Whole genome sequencing revealed a 15.6 megabase deletion of 11q23.3q25. On polysomnography, she was found to have severe mixed obstructive and central sleep apnea (obstructive AHI 13.4 events/hour, central AHI 8.6 events/hour). She was treated with up to ½ Lpm of O2 via nasal cannula during sleep. CT imaging of the head and MRI of the brain and spine were obtained. These demonstrated absent olfactory nerves, pituitary interruption syndrome, periventricular white matter hypomyelination, lacunar skull, brachycephaly, mild congenital cervical spinal stenosis, and a “split atlas” with incomplete anterior and posterior arches of the C1 vertebra. There was no Chiari malformation and no radiographic abnormalities of the spinal cord. At 6 months of age she was started and maintained on levothyroxine and hydrocortisone for central hypothyroidism and adrenal insufficiency. Repeat polysomnogram at 15 months of age showed an obstructive AHI of 3.2 events/hour, and a central AHI of 5.6 events/hour. While most central apneas were brief (mean duration of 10.4 seconds), there were prolonged central apneas lasting as long as 20.9 seconds. Due to oxygen desaturations to the 70’s and 80’s following central apneas, oxygen supplementation in sleep was continued. Conclusion Multiple features of Jacobsen syndrome (e.g. hypotonia, craniofacial and skeletal abnormalities) increase risk for obstructive and central sleep apnea. We present a girl with Jacobsen syndrome demonstrating both obstructive and central sleep apnea from infancy into toddlerhood. This report highlights the importance of screening for sleep disordered breathing in patients with Jacobsen syndrome, and the need for further research on sleep disturbances in this population. Support (if any)