title: Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
abstract: 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.
authors.affiliation: Royal North Shore Hospital, St Leonards, New South Wales, Australia.
authors.forename: Ramesh
authors.initials: R
authors.lastname: Bajaj
authors.forename: Janine
authors.initials: J
authors.lastname: Smith
authors.forename: Delphine
authors.initials: D
authors.lastname: Trochet
authors.forename: John
authors.initials: J
authors.lastname: Pitkin
authors.forename: Robert
authors.initials: R
authors.lastname: Ouvrier
authors.forename: Nicole
authors.initials: N
authors.lastname: Graf
authors.forename: David
authors.initials: D
authors.lastname: Sillence
authors.forename: Martin
authors.initials: M
authors.lastname: Kluckow
mesh_terms: D019070:Cell Lineage; D002465:Cell Movement; D017809:Fatal Outcome; D016368:Frameshift Mutation; D005725:Ganglia, Autonomic / Q000473:pathology; D005865:Gestational Age; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics* / Q000473:pathology; D007418:Intestinal Pseudo-Obstruction / Q000209:etiology; D008297:Male; D009432:Neural Crest / Q000473:pathology; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors