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
JournalNeurology
Volume37
Issue1
Pagination64-7
Date Published1987 Jan
ISSN0028-3878
KeywordsBiopsy, Cytochrome-c Oxidase Deficiency, Histocytochemistry, Humans, Immunoenzyme Techniques, Infant, Male, Mitochondria, Muscle, Muscles, Muscular Diseases
Abstract

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.

DOI10.1212/wnl.37.1.64
Alternate JournalNeurology
Citation Key10.1212/wnl.37.1.64
PubMed ID3025776
Grant ListNS-11766 / NS / NINDS NIH HHS / United States