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H. Houston Merriti Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, College of Physicians and Surgeons, New York, NY (Dr. DiMaum and Mr. Scofield), Ohio State University, Division of Neurology and Department of Pathology, Columbus, OH (Drs. Mendell, Sahenk, Bachman, and Reiner), and the Johnson Research Foundation and Department of Biochemistry and Biophysics, University of Pennsylvania, Philadelphia, PA (Dr. Scarpa).
A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 31/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undectectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
Address correspondence and reprint requests to Dr. DiMauro, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York. NY 10032.
Accepted for publication November 8, 1979.
Read in part at the Fourth International Congress on Muscle Diseases, Montreal, Quebec, Canada, September 1978.
Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and the Muscular Dystrophy Association.
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