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.
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Abbreviations
- CCHS:
-
Congenital central hypoventilation syndrome
- CO2 :
-
Carbon dioxide
- PHOX2B:
-
Homeobox 2B (human gene)
- Phox2b:
-
Homeobox 2B (mouse gene)
- RTN:
-
Retrotrapezoid nucleus
- SIMV:
-
Synchronised intermittent mandatory ventilation
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AG is an NIHR Senior Investigator. The research was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
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Dr. Rossor undertook the physiological assessments under Professor Greenough and Dr. Bhat’s guidance. All authors contributed to the writing of the manuscript.
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Rossor, T., Soe, A., Bhat, R. et al. Congenital central hypoventilation syndrome and carbon dioxide sensitivity. Eur J Pediatr 173, 1727–1730 (2014). https://doi.org/10.1007/s00431-014-2432-1
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DOI: https://doi.org/10.1007/s00431-014-2432-1