852 Severe Central Sleep Apnea in a Patient with Cornelia de Lange Syndrome

Abstract

Abstract Introduction Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with characteristic facial dysmorphisms, upper airway structural abnormalities, and varying degrees of intellectual and neurologic deficits. Affected patients can have many sleep problems including chronic insomnia and obstructive sleep apnea; however, there is no literature indicating central sleep apnea as a common sleep disorder in this patient population. We describe a patient with CdLS with an unusual presentation of both severe obstructive and central sleep apnea. Report of case(s) The patient is a 12-year-old female with CdLS, global developmental delay, repaired bilateral cleft-palate, and oropharyngeal dysphagia. She was referred for diagnostic polysomnography for evaluation of snoring. Physical examination findings were significant for distinctive features of the head and face including microcephaly, micrognathia, and synophrys. Neurologically, the patient was non-verbal and wheelchair bound. Pre-evaluation screening indicated no concerns from the caregiver regarding problems with sleep initiation, maintenance, or daytime symptoms. Polysomnography (PSG) at age 7 years revealed severe obstructive and central sleep apnea with an apnea-hypopnea index (AHI) of 78.2/hr. The majority of these were central events (68.44/hr). There were no epileptiform foci recorded. Bilevel Positive Airway Pressure (BPAP) in Spontaneous/Timed (S/T) mode was titrated during the study which resolved all central events. Magnetic resonance imaging of the brain was obtained indicating mild hypoplasia of the corpus callosum. Since the initial PSG, 5 additional routine studies were conducted and progressive worsening of central sleep apnea was noted with the highest recorded AHI of 108.8/hr (central events: 81.4/hr). Apneic events were fairly managed with BPAP in ST mode. Conclusion Sleep-disordered breathing in CdLS is an increasingly diagnosed entity. While previous literature indicates airway obstruction as a common cause for sleep apnea in children with CdLS, our case suggests that clinicians should consider central causes of sleep apnea in these patients. Given the sub-clinical progression of sleep apnea in this case study, routine follow up PSGs should be considered. Further research is necessary to increase knowledge of the incidence and management of central sleep apnea in children with CdLS. Support (if any):