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Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Department of Neurology and Regional Neuromuscular Center (Drs. Angelini, Pegolo, Trevisan, and Vergani) and the Department of Pediatrics (Dr. Rinaldo), University of Padua; and the Department of Neurology (Drs. Bresolin and Bet), Centro Dino Ferrari, University of Milan, Italy.

The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa₃ peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

Address correspondence and reprint requests to Dr. Angelini, Department of Neurology, University of Padua, Via Giustiniani 5, 35100 Padova, Italy.

Supported by a C.N.R. No. 85.00426.56 115.07542, by Legato Dino Ferrari and the Muscular Dystrophy Association.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985.

Accepted for publication December 18, 1985.

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