摘要：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 diff erentiation of neural crest cells. Some patients also have tumours of neural crest cell origin, including neuroblastoma, ganglioneuroma and ganglioneuroblastoma. Th e 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 PHOX2B gene mutation.
