Document Detail

Congenital central hypoventilation syndrome: a case report.
MedLine Citation:
PMID:  21730909     Owner:  NLM     Status:  In-Data-Review    
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.
Bresney A Crowell; Robin L Bissinger; Margaret Conway-Orgel
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in neonatal care : official journal of the National Association of Neonatal Nurses     Volume:  11     ISSN:  1536-0911     ISO Abbreviation:  Adv Neonatal Care     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-07-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101125644     Medline TA:  Adv Neonatal Care     Country:  United States    
Other Details:
Languages:  eng     Pagination:  167-72     Citation Subset:  IM    
Medical University of South Carolina, Charleston.
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