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.
Highlights
In German mythology, there is a story of a water nymph named Ondine, who falls in love with a mortal
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
Summary
In German mythology, there is a story of a water nymph named Ondine, who falls in love with a mortal. The myth of “Ondine’s curse” has made its way into modern medicine by way of a disorder called congenital central hypoventilation syndrome (CCHS) This disorder, caused by a mutation in the PHOX2B gene, is characterized by the failure of the autonomic control of respiration. After discussing options with the family and patient, she had a tracheostomy placed and was discharged on invasive mechanical ventilation only during the night time and at times of rest She had improvement in lab values following tracheostomy placement, as venous blood gas revealed pH of 7.40, pCO2 of 43 mmHg (5.7 kPa), and HCO3 of 26.4 mEq/L (26.4 mmol/L). At home with tracheostomy ventilation at night time, she has done remarkably well with significant improvement in mental status and excessive daytime tiredness Her end-tidal carbon dioxide has been maintained between 35 to 45 mmHg (4.7 to 5.9 kPa) with normalization of her acid-base balance. She has returned full-time to school and has accelerated to the top 25% of her class within eight months of treatment
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
