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Altered Mental Status and Respiratory Failure in an 11-Year-Old Female.

Authors :
Ribeiro ER
Livingston F
Kahana M
Smith R
Source :
Cureus [Cureus] 2021 May 22; Vol. 13 (5), pp. e15164. Date of Electronic Publication: 2021 May 22.
Publication Year :
2021

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder that results in profound hypoventilation that is most prominent during periods of sleep. Caused by a genetic mutation in the PHOX2B gene, CCHS typically presents in the newborn period with symptoms of hypoventilation. However, there is a subset of patients with the same genetic mutation who present much later in life, which is termed late-onset congenital central hypoventilation syndrome (LO-CCHS). The reason for its late presentation is unclear but is often dramatic. Given its rarity, the diagnosis can be difficult to establish but can be accomplished by using a systematic approach. Here, we present a case of LO-CCHS in an 11-year-old female who presented with respiratory failure and altered mental status.<br />Competing Interests: The authors have declared that no competing interests exist.<br /> (Copyright © 2021, Ribeiro et al.)

Details

Language :
English
ISSN :
2168-8184
Volume :
13
Issue :
5
Database :
MEDLINE
Journal :
Cureus
Publication Type :
Report
Accession number :
34168928
Full Text :
https://doi.org/10.7759/cureus.15164