n South African Journal of Child Health - Congenital central hypoventilation syndrome and intestinal aganglionosis : a case report

Volume 7, Issue 4
  • ISSN : 1994-3032
  • E-ISSN: 1999-7671



Congenital central hypoventilation syndrome (CCHS), also called 'Ondine's curse', is characterised by an abnormal ventilatory response to progressive hypercapnia and sustained hypoxaemia. Neonates with this condition experience hypoventilation or apnoea while asleep. Patients may also have congenital intestinal aganglionosis (CIA), aganglionic megacolon or Hirschsprung's disease, suggesting an aberrant phenotype arising from a defect of migration or differentiation of neural crest cells. Some patients also have tumours of neural crest cell origin, including neuroblastoma, ganglioneuroma and ganglioneuroblastoma. The association of CCHS and CIA is called Ondine-Hirschsprung disease (Haddad syndrome). A few cases have been diagnosed in South Africa, but none has been reported. We report a case of CCHS and CIA with a gene mutation.

Loading full text...

Full text loading...


Article metrics loading...


This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error