Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
Article first published online: 16 SEP 2008
©2008 The Author(s)/Journal Compilation ©2008 Foundation Acta Pædiatrica/Acta Pædiatrica
Volume 98, Issue 1, pages 192–195, January 2009
How to Cite
Repetto, G. M., Corrales, R. J., Abara, S. G., Zhou, L., Berry-Kravis, E. M., Rand, C. M. and Weese-Mayer, D. E. (2009), Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatrica, 98: 192–195. doi: 10.1111/j.1651-2227.2008.01039.x
- Issue published online: 9 DEC 2008
- Article first published online: 16 SEP 2008
- Received 10 June 2008; revised 16 August 2008; accepted 25 August 2008.
- Central sleep apnea;
- Congenital central hypoventilation syndrome;
- PHOX2B gene
Aim: to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics.
Case summary: An otherwise healthy 2.75-year-old boy presented with alveolar hypoventilation after adenoidectomy and tonsillectomy for obstructive sleep apnea, requiring invasive ventilatory support during sleep. He had a heterozygous 24-polyalanine repeat expansion in the PHOX2B gene (20/24 genotype), a genotype that has not been previously described in association with CCHS or LO-CCHS symptoms. Clinical findings in members of the family with the same 20/24 genotype ranged from asymptomatic to prolonged sedation after benzodiazepines.
Conclusion: CCHS should be suspected in individuals presenting with unexplained hypoventilation and/or seizures after anesthetics or sedatives. This is the first report of LO-CCHS in a kindred with the PHOX2B 20/24 genotype. The incomplete penetrance observed in this family suggests a gene–environment interaction.