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Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Author

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  • Marta Ditmer

    (Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland)

  • Szymon Turkiewicz

    (Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland)

  • Agata Gabryelska

    (Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland)

  • Marcin Sochal

    (Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland)

  • Piotr Białasiewicz

    (Department of Sleep Medicine and Metabolic Disorders, Medical University of Lodz, 92-215 Lodz, Poland)

Abstract

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

Suggested Citation

  • Marta Ditmer & Szymon Turkiewicz & Agata Gabryelska & Marcin Sochal & Piotr Białasiewicz, 2021. "Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis," IJERPH, MDPI, vol. 18(24), pages 1-13, December.
    • Handle: RePEc:gam:jijerp:v:18:y:2021:i:24:p:13402-:d:706565
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    References listed on IDEAS

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    1. Alexandre Pattyn & Xavier Morin & Harold Cremer & Christo Goridis & Jean-FranÇois Brunet, 1999. "The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives," Nature, Nature, vol. 399(6734), pages 366-370, May.
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    Keywords

    CCHS; diagnosis; late-onset;
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