title: Chiari type I malformation causing central apnoeas in a 4-month-old boy.
abstract: Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of a Chiari type I malformation. Surgical repair resulted in complete resolution of the symptoms, normal respiratory parameters during sleep and normal psychomotor development. This case illustrates a very early presentation of the Chiari type I malformation with central apnoeas and suggests that this aetiology should be considered in the differential diagnosis of central apnoeas in infants, especially when they are associated with other neurological sign or symptom.
authors.affiliation: Pediatric Neurology and Metabolic Diseases Department, Robert-Debré Hospital (Assistance Publique - Hôpitaux), University of Paris 7 Denis-Diderot, 48 Boulevard Sérurier, F-75935 Paris Cedex 19, France.
authors.forename: Mieke J A
authors.initials: MJ
authors.lastname: Van den Broek
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Arbues
authors.forename: François
authors.initials: F
authors.lastname: Chalard
authors.forename: Nathalia M
authors.initials: NM
authors.lastname: Pinto Da Costa
authors.forename: Ha
authors.initials: H
authors.lastname: Trang
authors.forename: Georg
authors.initials: G
authors.lastname: Dorfmuller
authors.forename: Philippe P
authors.initials: PP
authors.lastname: Evrard
authors.forename: Isabelle
authors.initials: I
authors.lastname: Husson
authors.forename: Laurent J
authors.initials: LJ
authors.lastname: Servais
mesh_terms: D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000473:pathology / Q000601:surgery; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005764:Gastroesophageal Reflux / Q000150:complications; D006801:Humans; D007223:Infant; D007818:Laryngeal Diseases / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D019635:Neurosurgical Procedures; D017286:Polysomnography; D020182:Sleep Apnea, Central / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed