title: [Attacks of apnea in an infant with achondroplasia].
abstract: Infants and children with achondroplasia are at increased risk of sudden death because of apneic attacks caused by compression of the medulla oblongata or spinal cord by a constricted foramen magnum or narrow upper cervical spinal canal. This history of an infant with achondroplasia is discussed. As a result of apneic attacks she developed severe brain damage. Cervicomedullary compression was revealed at CT-scan and NMRI of the basicranium and upper cervical canal, and confirmed at decompressive surgery. Early symptoms can be clues to the existence of cervicomedullary compression. These clues are indication for further investigations. Decompressive surgery has good results when performed at an early stage. Knowledge of the signs and symptoms of cervicomedullary compression and of factors which increase the risk of complications are important in the management of achondroplastic patients.
authors.affiliation: afd. Kindergeneeskunde, Medisch Centrum Alkmaar.
authors.forename: W A
authors.initials: WA
authors.lastname: Helbing
authors.forename: J F
authors.initials: JF
authors.lastname: van der Blij
authors.forename: R
authors.initials: R
authors.lastname: ten Houten
authors.forename: G
authors.initials: G
authors.lastname: Broere
authors.forename: J W
authors.initials: JW
authors.lastname: Oorthuys
mesh_terms: D000130:Achondroplasia / Q000150:complications*; D001049:Apnea / Q000209:etiology*; D001284:Atrophy; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008017:Life Expectancy; D008279:Magnetic Resonance Imaging; D009123:Muscle Hypotonia / Q000150:complications
vernacular_title: Apnoe-aanvallen bij een zuigeling met achondroplasie.