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01-02-2021 | Review article

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Authors: Antoon Meylemans, Pieter Depuydt, Elfride De Baere, Katrien Hertegonne, Eric Derom, Bart Dermaut, Dimitri Hemelsoet

Published in: Acta Neurologica Belgica | Issue 1/2021

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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Title: Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation
Authors: Antoon Meylemans
Pieter Depuydt
Elfride De Baere
Katrien Hertegonne
Eric Derom
Bart Dermaut
Dimitri Hemelsoet
Publication date: 01-02-2021
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 1/2021
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-020-01363-w

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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Abstract

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