Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency

Massimo Zeviani, David H. Van Dyke, Serenella Servidei, Steven C. Bauserman, Eduardo Bonilla, Edgar T. Beaumont, Joan Sharda, Karen Vander-Laan, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review

Abstract

A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 41/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.

Original languageEnglish
Pages (from-to)1198-1202
Number of pages5
JournalArchives of Neurology
Volume43
Issue number11
DOIs
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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