Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.
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.
Roeleveld-Versteegh
A B C
AB
Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands. angelique.versteegh@cze.nl
Braun
K P J
KP
Smeitink
J A M
JA
Dorland
L
L
de Koning
T J
TJ
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