title: Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.
abstract: Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.
authors.affiliation: Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario. reshma.amin@sickkids.ca
authors.forename: Reshma
authors.initials: R
authors.lastname: Amin
authors.forename: Andrea
authors.initials: A
authors.lastname: Riekstins
authors.forename: Suhail
authors.initials: S
authors.lastname: Al-Saleh
authors.forename: Colin
authors.initials: C
authors.lastname: Massicotte
authors.forename: Allan L
authors.initials: AL
authors.lastname: Coates
authors.forename: Ian
authors.initials: I
authors.lastname: MacLusky
mesh_terms: D002675:Child, Preschool; D004200:Diseases in Twins; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D009154:Mutation; D011175:Positive-Pressure Respiration; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014430:Twins, Monozygotic / Q000235:genetics*