Altered Mental Status and Respiratory Failure in an 11-Year-Old Female.
| Autor: | Ribeiro ER; Pediatrics, Nemours Children's Hospital, Orlando, USA., Livingston F; Pulmonology, Nemours Children's Hospital, Orlando, USA., Kahana M; Pediatric Critical Care Medicine, Nemours Children's Hospital, Orlando, USA., Smith R; Pediatric Critical Care Medicine, Nemours Children's Hospital, Orlando, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 May 22; Vol. 13 (5), pp. e15164. Date of Electronic Publication: 2021 May 22. |
| DOI: | 10.7759/cureus.15164 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Ribeiro et al.) |
| Databáze: | MEDLINE |
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