title: [Congenital central hypoventilation--treated with nocturnal biphasic intermittent respiration via nasal mask].
abstract: A case of congenital central hypoventilation syndrome (CCHS) was undiagnosed until the girl in question was eight years old. Her development was normal, although with symptoms and signs of nocturnal hypoventilation. At the age of eight, with an interval of eight months, she suffered two attacks of acute respiratory insufficiency necessitating intubation and respiratory treatment. The episodes were considered to be pneumonia/septicaemia, but were in retrospect proven to be lung congestion as a consequence of hypercapnia and hypoxaemia. After the last episode CCHS was confirmed. The difficulties in diagnosing CCHS are discussed. After extubation she has been successfully treated with nocturnal nasal intermittent positive pressure ventilation (NIPPV) with BiPAP (Respironic), and she has in this way avoided tracheostomy.
authors.affiliation: Arhus Kommunehospital, respirationscenter vest.
authors.forename: B
authors.initials: B
authors.lastname: Juhl
authors.forename: F O
authors.initials: FO
authors.lastname: Nørregaard
mesh_terms: D002940:Circadian Rhythm; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007385:Intermittent Positive-Pressure Ventilation / Q000295:instrumentation; D008397:Masks; D012891:Sleep Apnea Syndromes / Q000151:congenital / Q000175:diagnosis / Q000628:therapy*
vernacular_title: Medfødt central hypoventilation--behandlet med natlig bifasisk trykstøtte af respirationen via nasalmaske.