title: Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.
abstract: Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. Both CCHS and HSCR are uncommon and their co-occurrence may suggest a common etiology, probably involving a fault of neural crest development. Recent reports have identified the paired-like homeobox 2B (PHOX2B) gene as the major gene for CCHS and HSCR. We report here an identified PHOX2B gene in a newborn baby who had concurrence of CCHS and total colonic aganglionosis with proximal small bowel involvement. Management of this rare disorder is challenging not only because it presents in newborn stage but also because it has extensive HSCR. Considering the issue of medical futility, the therapeutic and ethical dilemma of this infant was discussed.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Hsien, Taiwan.
authors.forename: Mei-Chen
authors.initials: MC
authors.lastname: Ou-Yang
authors.forename: San-Nan
authors.initials: SN
authors.lastname: Yang
authors.forename: Yung-Ming
authors.initials: YM
authors.lastname: Hsu
authors.forename: Mei-Hui
authors.initials: MH
authors.lastname: Ou-Yang
authors.forename: Hsin-Chun
authors.initials: HC
authors.lastname: Haung
authors.forename: Shin-Yi
authors.initials: SY
authors.lastname: Lee
authors.forename: Wu-Shiun
authors.initials: WS
authors.lastname: Hsieh
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Chieh-An
authors.initials: CA
authors.lastname: Liu
mesh_terms: D018450:Disease Progression; D017809:Fatal Outcome; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009102:Multiple Organ Failure / Q000175:diagnosis; D009154:Mutation; D020125:Mutation, Missense; D035583:Rare Diseases; D018570:Risk Assessment; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors