title: [Congenital central hypoventilation syndrome diagnosed in a two-year-old girl].
abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by inadequate response to hypoxia and hypercapnia and life-threatening alveolar hypoventilation most pronounced during sleep. It is associated with other disorders of neural crest origin and of autonomic dysfunction. Usually the diagnosis is made in the neonatal period. We describe a case where a two-year-old girl had respiratory failure during the first week of her life and CCHS was suspected, but followed by spontaneous recovery and a two-year period without symptoms.
authors.affiliation: m.traeger@gmail.com.
authors.forename: Mette Hoffmann
authors.initials: MH
authors.lastname: Träger
authors.forename: Tomasz Stanislaw
authors.initials: TS
authors.lastname: Mieszczanek
mesh_terms: D002675:Child, Preschool; D057210:Delayed Diagnosis; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D007385:Intermittent Positive-Pressure Ventilation; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000628:therapy