Tags

Type your tag names separated by a space and hit enter

Congenital central hypoventilation syndrome: a case report.
Adv Neonatal Care. 2011 Jun; 11(3):167-72.AN

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.

Links

Aggregator Full Text

Authors+Show Affiliations

Crowell BA
Medical University of South Carolina, Charleston, SC 29425, USA. crowellb@musc.edu
Bissinger RL
No affiliation info available
Conway-Orgel M
No affiliation info available

MeSH

Diagnosis, DifferentialFemaleHomeodomain ProteinsHumansHypoventilationInfant, NewbornSequence AnalysisSleep Apnea, CentralTracheotomyTranscription FactorsTreatment OutcomeVentilators, Mechanical

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21730909

Citation

Crowell, Bresney A., et al. "Congenital Central Hypoventilation Syndrome: a Case Report." Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses, vol. 11, no. 3, 2011, pp. 167-72.
Crowell BA, Bissinger RL, Conway-Orgel M. Congenital central hypoventilation syndrome: a case report. Adv Neonatal Care. 2011;11(3):167-72.
Crowell, B. A., Bissinger, R. L., & Conway-Orgel, M. (2011). Congenital central hypoventilation syndrome: a case report. Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses, 11(3), 167-72. https://doi.org/10.1097/ANC.0b013e31821cfe26
Crowell BA, Bissinger RL, Conway-Orgel M. Congenital Central Hypoventilation Syndrome: a Case Report. Adv Neonatal Care. 2011;11(3):167-72. PubMed PMID: 21730909.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital central hypoventilation syndrome: a case report. AU - Crowell,Bresney A, AU - Bissinger,Robin L, AU - Conway-Orgel,Margaret, PY - 2011/7/7/entrez PY - 2011/7/7/pubmed PY - 2011/12/28/medline SP - 167 EP - 72 JF - Advances in neonatal care : official journal of the National Association of Neonatal Nurses JO - Adv Neonatal Care VL - 11 IS - 3 N2 - 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. SN - 1536-0911 UR - https://www.unboundmedicine.com/medline/citation/21730909/Congenital_central_hypoventilation_syndrome:_a_case_report_ L2 - https://doi.org/10.1097/ANC.0b013e31821cfe26 DB - PRIME DP - Unbound Medicine ER -