Published online June 1, 2005
PEDIATRICS Vol. 115 No. 6 June 2005, pp. e737-e738 (doi:10.1542/peds.2004-1910)
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ELECTRONIC ARTICLE

Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant

Ramesh Bajaj, MBBS, MD*, Janine Smith, MBChB, FRACP{ddagger},§, Delphine Trochet, BSc||, John Pitkin, MBBS, FRACS{ddagger}, Robert Ouvrier, MBBS, FRACP{ddagger}, Nicole Graf, MBBS, FRCPA{ddagger}, David Sillence, FRACP, MD{ddagger} and Martin Kluckow, MBBS, FRACP, PhD*

* Royal North Shore Hospital, St Leonards, New South Wales, Australia
{ddagger} Children’s Hospital, Westmead, New South Wales, Australia
§ Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
|| Unite de Recherches sur les Handicaps Genetiques de l’Enfant Institut National de la Santé et de la Recherche Médicale U-393, et Departement de Genetique, Hopital Necker-Enfants Malades, Paris, France

Congenital central hypoventilation syndrome with Hirschsprung’s disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene in a significant number of patients with this disorder. Diagnosis and management of this disorder in the setting of extreme prematurity is difficult as the manifestations of failure to maintain breathing effort and failure to establish feeds overlap with the complications of prematurity. We describe an infant who had congenital central hypoventilation syndrome with Hirschsprung’s disease and was delivered at 26 weeks’ gestational age and had total aganglionosis of the bowel, failure to wean from ventilation, and a mutation in the PHOX2B gene.

Key Words: aganglionosis • hypoventilation • preterm infant • congenital central hypoventilation syndrome

Abbreviations: CCHS, congenital central hypoventilation syndrome • HD, Hirschsprung’s disease

Accepted Dec 7, 2004.


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