Case Reports

Congenital central hypoventilation syndrome and intestinal aganglionosis: A case report

Tanusha Ramdin, Victor Davies

Abstract


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.


Authors' affiliations

Tanusha Ramdin, Department of Paediatrics and Child Health, Charlotte Maxeke Hospital and University of the Witwatersrand, Johannesburg, South Africa

Victor Davies, Department of Paediatrics and Child Health, Charlotte Maxeke Hospital and University of the Witwatersrand, Johannesburg, South Africa

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Keywords

Congenital central hypoventilation syndrome; congenital intestinal aganglionosis; neonate; PHOX2B gene; apnoea; Hirschsprung's disease

Cite this article

South African Journal of Child Health 2013;7(4):157-159. DOI:10.7196/SAJCH.625

Article History

Date submitted: 2013-06-10
Date published: 2013-11-18

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