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Massimo Zeviani, MD; David H. Van Dyke, MD; Serenella Servidei, MD; Steven C. Bauserman, MD; Eduardo Bonilla, MD; Edgar T. Beaumont, MD; Joan Sharda, MD; Karen VanderLaan, MD; Salvatore DiMauro, MD

Arch Neurol. 1986;43(11):1198-1202.

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.

Author Affiliations
From the Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York (Drs Zeviani, Servidei, Bonilla, and DiMauro); The Butterworth Hospital, Grand Rapids, Mich (Dr Beaumont); and the Grand Rapids (Mich) Area Medical Education Center (Drs Van Dyke, Bauserman, Sharda, and Vander-Laan).

Footnotes
Accepted for publication May 19, 1986.

Reprint requests to 4-420 College of Physicians and Surgeons, 630 W 168th St, New York, NY 10032 (Dr DiMauro).

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