Abstract
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.
Original language | English (US) |
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Pages (from-to) | 192-195 |
Number of pages | 4 |
Journal | Acta Paediatrica, International Journal of Paediatrics |
Volume | 98 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2009 |
Keywords
- Anesthetics
- Central sleep apnea
- Congenital central hypoventilation syndrome
- PHOX2B gene
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health