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From the Departments of Neurology, Pediatrics, Medicine, Pathology, and Community Medicine, West Virginia University School of Medicine, Morgantown, wv.
A 3-year-old boy presenting with convulsions and carpopedal spasm had hypomagnesemia and hypermagnesuria due to congenital magnesium-losing nephropathy. Despite chronic oral and intermittent intravenous magnesium supplementation, he remained chronically hypomagnesemic. At age 4, he developed a progressive proximal myopathy and dilated hypertrophic cardiomyopathy that ultimately contributed to his death at age 14 years. Skeletal and cardiac muscle specimens showed a mitochondria1 myopathy with increased numbers of enlarged, structurally abnormal mitochondria. Muscle magnesium content was markedly decreased. Chronic oral and intermittent intravenous magnesium supplementation may be inadequate to prevent the progressive cardioskeletal myopathy associated with the chronic magnesium deficiency of congenital magnesium-losing nephropathy.
Address correspondence and reprint requests to Dr. J.E. Riggs, Department of Neurology, West Virginia University Health Sciences Center, Morgantown, WV 26506.
Presented in part at the 35th annual meeting of the American Academy of Neurology, San Diego, CA, April 1983, and the Annual Meeting of the American Pediatric Society and the Society for Pediatric Research, 1983.
Received April 24, 1991. Accepted for publication in final form June 4, 1991.
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