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.
Copyright © 2021, Ribeiro et al.