Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 May 22;13(5):e15164.
doi: 10.7759/cureus.15164.

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

Emily R Ribeiro  1 , Floyd Livingston  2 , Madelyn Kahana  3 , Robert Smith  3
Affiliations
Case Reports

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

Emily R Ribeiro et al. Cureus. .

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.

Keywords: central congenital hypoventilation; hypoventilation; late onset congenital central hypoventilation syndrome; phox2b; tracheostomy.

PubMed Disclaimer

Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Chest X-ray of the patient on admission showing bilateral perihilar opacities (arrows)
See this image and copyright information in PMC

References

    1. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. Matera I, Bachetti T, Puppo F, et al. J Med Genet. 2004;41:373–380. - PMC - PubMed
    1. The genetics of congenital central hypoventilation syndrome: clinical implications. Bishara J, Keens TG, Perez IA. Appl Clin Genet. 2018;11:135–144. - PMC - PubMed
    1. Congenital central hypoventilation syndrome. Ramanantsoa N, Gallego J. Respir Physiol Neurobiol. 2013;189:272–279. - PubMed
    1. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. Am J Respir Crit Care Med. 2010;181:626–644. - PubMed
    1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Amiel J, Laudier B, Attié-Bitach T, et al. Nat Genet. 2003;33:459–461. - PubMed

Publication types

LinkOut - more resources