n South African Journal of Child Health - Congenital central hypoventilation syndrome and intestinal aganglionosis : a case report
|Article Title||Congenital central hypoventilation syndrome and intestinal aganglionosis : a case report|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Journal of Child Health|
|Affiliations||1 Charlotte Maxeke Johannesburg Academic Hospital, 2 Charlotte Maxeke Johannesburg Academic Hospital, 3 University of the Witwatersrand and 4 University of the Witwatersrand|
|Publication Date||Nov 2013|
|Pages||157 - 159|
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 PHOX2B gene mutation.
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