title: Central hypoventilation and brainstem dysgenesis.
abstract: We report on a newborn with congenital hypotonia, unilateral facial palsy, sucking and swallowing difficulties, velopalatine incoordination, and unilateral impairment of the auditory brainstem responses, attributable to brainstem dysgenesis. On follow-up, the child manifested developmental delay and central hypoventilation syndrome during sleep. The ventilation abnormality during sleep with insensitivity to hypercapnia, associated with unilateral facial paralysis, indicates a pontine lesion, including the parafacial respiratory group.
authors.affiliation: Department of Pediatric Neurology, Hospital Universitari Materno-Infantil Vall d'Hebron, Barcelona, Spain.
authors.forename: Thais
authors.initials: T
authors.lastname: Armangue
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
authors.forename: Elida
authors.initials: E
authors.lastname: Vazquez
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Jurado
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig-Quilis
mesh_terms: D001933:Brain Stem / Q000002:abnormalities* / Q000503:physiopathology*; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000150:complications; D002658:Developmental Disabilities / Q000150:complications; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005158:Facial Paralysis / Q000150:complications; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007040:Hypoventilation / Q000150:complications* / Q000473:pathology*; D008279:Magnetic Resonance Imaging