Congenital central hypoventilation syndrome and carbon dioxide sensitivity

Thomas Rossor; Aung Soe; Ravindra Bhat; Anne Greenough

doi:10.1007/s00431-014-2432-1

Congenital central hypoventilation syndrome and carbon dioxide sensitivity

Thomas Rossor, Aung Soe, Ravindra Bhat, Anne Greenough^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS; indeed, he subsequently demonstrated to have the 20/31 genotype. This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge.

Conclusion: CO2 sensitivity status may assist in determining the severity of the CCHS.

Original language	English
Pages (from-to)	1727-1730
Number of pages	4
Journal	European Journal of Pediatrics
Volume	173
Issue number	12
DOIs	https://doi.org/10.1007/s00431-014-2432-1
Publication status	Published - Dec 2014

Keywords

Congenital central hypoventilation syndrome
Autonomic nervous system
Chemoreceptor
Ventilation
AUTOMATIC-CONTROL
PHOX2B GENE
CHEMOSENSITIVITY
VENTILATION
MUTATIONS
FAILURE

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title = "Congenital central hypoventilation syndrome and carbon dioxide sensitivity",

abstract = "Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS; indeed, he subsequently demonstrated to have the 20/31 genotype. This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge.Conclusion: CO2 sensitivity status may assist in determining the severity of the CCHS.",

keywords = "Congenital central hypoventilation syndrome, Autonomic nervous system, Chemoreceptor, Ventilation, AUTOMATIC-CONTROL, PHOX2B GENE, CHEMOSENSITIVITY, VENTILATION, MUTATIONS, FAILURE",

author = "Thomas Rossor and Aung Soe and Ravindra Bhat and Anne Greenough",

year = "2014",

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doi = "10.1007/s00431-014-2432-1",

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TY - JOUR

T1 - Congenital central hypoventilation syndrome and carbon dioxide sensitivity

AU - Rossor, Thomas

AU - Soe, Aung

AU - Bhat, Ravindra

AU - Greenough, Anne

PY - 2014/12

Y1 - 2014/12

N2 - Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS; indeed, he subsequently demonstrated to have the 20/31 genotype. This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge.Conclusion: CO2 sensitivity status may assist in determining the severity of the CCHS.

AB - Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS; indeed, he subsequently demonstrated to have the 20/31 genotype. This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge.Conclusion: CO2 sensitivity status may assist in determining the severity of the CCHS.

KW - Congenital central hypoventilation syndrome

KW - Autonomic nervous system

KW - Chemoreceptor

KW - Ventilation

KW - AUTOMATIC-CONTROL

KW - PHOX2B GENE

KW - CHEMOSENSITIVITY

KW - VENTILATION

KW - MUTATIONS

KW - FAILURE

U2 - 10.1007/s00431-014-2432-1

DO - 10.1007/s00431-014-2432-1

M3 - Article

SN - 0340-6199

VL - 173

SP - 1727

EP - 1730

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 12

ER -

Congenital central hypoventilation syndrome and carbon dioxide sensitivity

Abstract

Keywords

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