Cytochrome c oxidase deficiency with acute onset and rapid recovery.
A 7-year-old girl with cytochrome c oxidase deficiency who had no neurologic deficits in infancy suddenly developed ophthalmoplegia, ptosis, and respiratory arrest. She recovered almost completely 80 days after onset, suggesting that acute onset and rapid remission are observed in patients with cytochrome c oxidase deficiency. It is also possible that early initiation of therapy in cytochrome c oxidase deficiency with coenzyme Q10 may hasten and enhance the therapeutic effect.
Nozaki
H
H
Division of Neurology, Saitama Children's Medical Center, Japan.
Hamano
S
S
Ueoka
Y
Y
Horita
H
H
Koga
Y
Y
Nonaka
I
I
D000208:Acute Disease; D001763:Blepharoptosis / Q000209:etiology*; D002524:Cerebellar Ataxia / Q000209:etiology; D002648:Child; D003067:Coenzymes; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology*; D012074:Remission Induction; D012131:Respiratory Insufficiency / Q000209:etiology*; D014451:Ubiquinone / Q000627:therapeutic use / Q000031:analogs & derivatives
D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10