Benign reversible muscle cytochrome c oxidase deficiency: a second case.

TitleBenign reversible muscle cytochrome c oxidase deficiency: a second case.
Publication TypeJournal Article
Year of Publication1987
AuthorsZeviani, M, Peterson, P, Servidei, S, Bonilla, E, DiMauro, S
Date Published1987 Jan
KeywordsBiopsy, Cytochrome-c Oxidase Deficiency, Histocytochemistry, Humans, Immunoenzyme Techniques, Infant, Male, Mitochondria, Muscle, Muscles, Muscular Diseases

A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.

Alternate JournalNeurology
Citation Key10.1212/wnl.37.1.64
PubMed ID3025776
Grant ListNS-11766 / NS / NINDS NIH HHS / United States