title: Congenital central hypoventilation syndrome: a case report.
abstract: 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.
authors: Medical University of South Carolina, Charleston, SC 29425, USA. crowellb@musc.edu
authors: Bresney A
authors: BA
authors: Crowell
authors: Robin L
authors: RL
authors: Bissinger
authors: Margaret
authors: M
authors: Conway-Orgel
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000451:nursing / Q000628:therapy; D007231:Infant, Newborn; D017421:Sequence Analysis; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000451:nursing / Q000628:therapy; D014140:Tracheotomy; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome; D012122:Ventilators, Mechanical
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors