Congenital central hypoventilation syndrome and carbon dioxide sensitivity.
Eur J Pediatr
; 173(12): 1727-30, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25319843
ABSTRACT
UNLABELLED 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
DNA
/
Dióxido de Carbono
/
Proteínas de Homeodomínio
/
Apneia do Sono Tipo Central
/
Hipercapnia
/
Hipoventilação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article