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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Acta Neurol Belg. 2021 Feb; 121(1):23-35.AN

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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Publisher Full Text (DOI)

Authors+Show Affiliations

Meylemans A
Department of Neurology, Ghent University Hospital, C.-Heymanslaan 10, 9000, Ghent, Belgium. antoonmeylemans@gmail.com.
Depuydt P
Department of Intensive Care Medicine, Ghent University Hospital, Ghent, Belgium.
De Baere E
Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hertegonne K
Centre for Sleep Disorders, Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Derom E
Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Dermaut B
Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hemelsoet D
Department of Neurology, Ghent University Hospital, Ghent, Belgium.

MeSH

AdultAge of OnsetFemaleHomeodomain ProteinsHumansHypoventilationMutationSleep Apnea, CentralTranscription Factors

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

32335870

Citation

Meylemans, Antoon, et al. "Adult-onset Congenital Central Hypoventilation Syndrome Due to PHOX2B Mutation." Acta Neurologica Belgica, vol. 121, no. 1, 2021, pp. 23-35.
Meylemans A, Depuydt P, De Baere E, et al. Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. Acta Neurol Belg. 2021;121(1):23-35.
Meylemans, A., Depuydt, P., De Baere, E., Hertegonne, K., Derom, E., Dermaut, B., & Hemelsoet, D. (2021). Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. Acta Neurologica Belgica, 121(1), 23-35. https://doi.org/10.1007/s13760-020-01363-w
Meylemans A, et al. Adult-onset Congenital Central Hypoventilation Syndrome Due to PHOX2B Mutation. Acta Neurol Belg. 2021;121(1):23-35. PubMed PMID: 32335870.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. AU - Meylemans,Antoon, AU - Depuydt,Pieter, AU - De Baere,Elfride, AU - Hertegonne,Katrien, AU - Derom,Eric, AU - Dermaut,Bart, AU - Hemelsoet,Dimitri, Y1 - 2020/04/25/ PY - 2020/03/03/received PY - 2020/04/16/accepted PY - 2020/4/27/pubmed PY - 2021/11/3/medline PY - 2020/4/27/entrez KW - Autonomic KW - Central congenital hypoventilation syndrome KW - Hirschsprung disease KW - Neural crest tumours KW - PHOX2B KW - Polyalanine repeat expansion mutation SP - 23 EP - 35 JF - Acta neurologica Belgica JO - Acta Neurol Belg VL - 121 IS - 1 N2 - 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. SN - 2240-2993 UR - https://www.unboundmedicine.com/medline/citation/32335870/Adult_onset_congenital_central_hypoventilation_syndrome_due_to_PHOX2B_mutation_ DB - PRIME DP - Unbound Medicine ER -