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.
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June 2005
Electronic Articles|
June 01 2005
Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant
Ramesh Bajaj, MBBS, MD;
Ramesh Bajaj, MBBS, MD
*Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Janine Smith, MBChB, FRACP;
Janine Smith, MBChB, FRACP
‡Children’s Hospital, Westmead, New South Wales, Australia
§Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
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Delphine Trochet, BSc;
Delphine Trochet, BSc
‖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
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John Pitkin, MBBS, FRACS;
John Pitkin, MBBS, FRACS
‡Children’s Hospital, Westmead, New South Wales, Australia
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Robert Ouvrier, MBBS, FRACP;
Robert Ouvrier, MBBS, FRACP
‡Children’s Hospital, Westmead, New South Wales, Australia
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Nicole Graf, MBBS, FRCPA;
Nicole Graf, MBBS, FRCPA
‡Children’s Hospital, Westmead, New South Wales, Australia
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David Sillence, FRACP, MD;
David Sillence, FRACP, MD
‡Children’s Hospital, Westmead, New South Wales, Australia
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Martin Kluckow, MBBS, FRACP, PhD
Martin Kluckow, MBBS, FRACP, PhD
*Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Address correspondence to Martin Kluckow, PhD, Department of Neonatology, Royal North Shore Hospital, Pacific Highway, Sydney, New South Wales 2050, Australia. E-mail: mkluckow@med.usyd.edu.au
Pediatrics (2005) 115 (6): e737–e738.
Article history
Accepted:
December 07 2004
Citation
Ramesh Bajaj, Janine Smith, Delphine Trochet, John Pitkin, Robert Ouvrier, Nicole Graf, David Sillence, Martin Kluckow; Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant. Pediatrics June 2005; 115 (6): e737–e738. 10.1542/peds.2004-1910
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