Obstructive Sleep Apnea in Jacobsen Syndrome

Abstract

Purpose: Many congenital disorders are associated with an elevated risk of obstructive sleep apnea due to craniofacial abnormalities, hypotonia, and obesity. We describe a male with an 11q deletion (Jacobsen syndrome) with obstructive sleep apnea. Report of Case: The patient was diagnosed with severe obstructive sleep apnea, but was unable to adhere to positive airway pressure therapy due to mask discomfort. Discussion: Obstructive sleep apnea is common in many congenital disorders. Implications for cognitive functioning, as well as the potential for cognitive improvements following treatment are discussed. Screening polysomnography may be indicated in patients with Jacobsen syndrome given their high likelihood of obstructive sleep apnea.