1028 Congenital Central Hypoventilation in a patient with MCEP2 duplication syndrome

Abstract Introduction Congenital central hypoventilation (CCHS) is a rare disorder due to impairment of autonomic nervous system clinically defined by significantly reduced or abolished ventilatory response hypercapnia and hypoxemia in the absence pulmonary, neuromuscular, cardiac disease. There limited knowledge on associated respiratory manifestations sleep-disordered breathing children with MECP2 duplication syndrome. Although nocturnal are currently not well recognized these children, we present case patient mutation congenital Report case(s) 24-week-old male born full-term via c-section presented recurrent problems, laryngeal cleft, dysphagia, snoring apneic episodes. Previous genetic work up showed chromosome 15q11.2 microdeletion. Past medical history was significant for neonatal ICU stay distress immediately following birth. Tonsils 1+ exam. PSG profound sleep apnea (CAI 300/h) average episodes lasted 7 seconds very periodic (88%) mild obstructive apnea. Mild also seen SpO2 low 90s without any hypercapnia. Bradypnea resp rate 10-20/m seen. PHOX2B gene testing negative. Genetic SNP array His development delayed, at age 20 months, including cognitive, speech motor function which he therapy. Tracheostomy recommended, however family preferred continue non-invasive ventilation while awaiting diaphragmatic pacing. Conclusion Respiratory syndrome patients common, important impact even possible fatal outcome. cited as an symptom there have been several reports CCHS this. should be considered MCEP2 timely diagnosis. Different treatment modalities (ENT surgery, CPAP NIV) can applied successfully treat conditions Support (if any)