title: Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.
abstract: We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.
authors.affiliation: Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands. angelique.versteegh@cze.nl
authors.forename: A B C
authors.initials: AB
authors.lastname: Roeleveld-Versteegh
authors.forename: K P J
authors.initials: KP
authors.lastname: Braun
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: T J
authors.initials: TJ
authors.lastname: de Koning
mesh_terms: D010244:Bulbar Palsy, Progressive / Q000175:diagnosis* / Q000209:etiology*; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis*; D035781:Siblings