title: Central sleep apnoea in Arnold-Chiari malformation: evidence of pathophysiological heterogeneity.
abstract: We report on the case of two young patients with type I Arnold-Chiari malformation (ACM), as revealed by a central sleep apnoea (CSA) syndrome without any other neurological defect. Case 1 was a 14-yr-old male patient, who developed severe alveolar hypoventilation and needed long-term mechanical ventilation via a tracheostomy. Case 2 was a 39-yr-old male patient, who developed features suggestive of sleep apnoea and responded to nasal continuous positive airway pressure ventilation despite the central type of apnoeas. These two cases illustrate the different pathophysiological mechanisms involved in CSA, namely a blunted chemical drive (in hypercapnic patients) and an increased chemical drive, which destabilizes the breathing pattern during sleep (in normo/hypocapnic patients). Central sleep apnoea can be the initial manifestation of Arnold-Chiari malformation and can lead to a life-threatening condition.
authors.affiliation: Service de Pneumologie et Réanimation Respiratoire, Centre Hospitalier Universitaire de Dijon, France.
authors.forename: C
authors.initials: C
authors.lastname: Rabec
authors.forename: G
authors.initials: G
authors.lastname: Laurent
authors.forename: N
authors.initials: N
authors.lastname: Baudouin
authors.forename: M
authors.initials: M
authors.lastname: Merati
authors.forename: F
authors.initials: F
authors.lastname: Massin
authors.forename: P
authors.initials: P
authors.lastname: Foucher
authors.forename: L
authors.initials: L
authors.lastname: Brondel
authors.forename: O
authors.initials: O
authors.lastname: Reybet-Degat
mesh_terms: D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007040:Hypoventilation / Q000209:etiology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D012121:Respiration, Artificial; D012891:Sleep Apnea Syndromes / Q000209:etiology* / Q000628:therapy