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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Acta neurologica Belgica - 1 Feb 2021

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

Abstract excerpt

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...

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PMID: 32335870
DOI: 10.1007/s13760-020-01363-w

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