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Congenital Central Hypoventilation Syndrome: A Case Report

Crowell, Bresney A. MSN, RN, NNP; Bissinger, Robin L. PhD, APRN, NNP-BC; Conway-Orgel, Margaret MSN, NNP-BC

Section Editor(s): King, Cheryl

doi: 10.1097/ANC.0b013e31821cfe26
Case of the Month

Congenital central hypoventilation syndrome (CCHS) is a relatively rare, life-threatening, and lifelong multisystem disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep. Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. This article reports a case of CCHS in a 38-week-gestation infant who presented on day of life 2 with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis was confirmed by a PHOX2B sequence analysis. A tracheotomy was performed and the infant was discharged home on a home ventilator with outpatient follow-up. The clinical presentation of CCHS, as well as diagnosis and treatment strategies, is reviewed.

Medical University of South Carolina, Charleston.

Correspondence: Bresney A. Crowell, MSN, RN, NNP, Medical University of South Carolina, 171 Ashley Ave, Charleston, SC 29425 (crowellb@musc.edu).

© 2011 National Association of Neonatal Nurses