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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

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Abstract

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). We here describe a 25-year-old woman with severe central hypoventilation triggered by analgesics. Genetic analysis confirmed the diagnosis of adult-onset CCHS caused by a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene. She was treated with nocturnal non-invasive ventilation. We reviewed the literature and found 21 genetically confirmed adult-onset CCHS cases. Because of the risk of deleterious respiratory complications, adult-onset CCHS is an important differential diagnosis in patients with central hypoventilation.

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Authors and Affiliations

  1. Department of Neurology, Ghent University Hospital, C.-Heymanslaan 10, 9000, Ghent, Belgium

    Antoon Meylemans

  2. Department of Intensive Care Medicine, Ghent University Hospital, Ghent, Belgium

    Pieter Depuydt

  3. Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Elfride De Baere & Bart Dermaut

  4. Centre for Sleep Disorders, Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium

    Katrien Hertegonne

  5. Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium

    Eric Derom

  6. Department of Neurology, Ghent University Hospital, Ghent, Belgium

    Dimitri Hemelsoet

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Contributions

AM contributed to the design, literature search and writing of the initial manuscript. DH helped shape the search and supervise the project. All authors provided critical feedback and gave suggestions for writing. AM wrote the final manuscript with support from DH. All authors were involved in the clinical diagnosis and/or treatment of the present case.

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Correspondence to Antoon Meylemans.

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Meylemans, A., Depuydt, P., De Baere, E. et al. Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. Acta Neurol Belg 121, 23–35 (2021). https://doi.org/10.1007/s13760-020-01363-w

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  • DOI: https://doi.org/10.1007/s13760-020-01363-w

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