PEDIATRICS Vol. 60 No. 6 December 1977, pp. 850-857
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Leigh's Encephalomyelopathy in a Patient With Cytochrome c Oxidase Deficiency in Muscle Tissue

J. L. Willems Ph.D.1, L. A. H. Monnens M.D.1, J. M. F. Trijbels Ph.D.1, J. H. Veerkamp Ph.D.1, A. E. F. H. Meyer M.D.1, K. van Dam Ph.D.1, and U. van Haelst M.D.1

1 Departments of Pediatrics, Biochemistry, and Pathology, University of Nijmegen, and the Departments of Pathology and Biochemistry, University of Amsterdam, The Netherlands

A patient is described with subacute necrotizing encephalomyelopathy proven by autopsy. A slight increase of blood pyruvate and lactate levels with an increased lactate/pyruvate ratio and frequently increased beta-hydroxybutyrate/acetoacetate ratio suggested a disorder of mitochondrial oxidation.

A cytochrome c oxidase deficiency was shown in peripheral muscle tissue with some residual cytochrome c oxidase activity in heart muscle. Normal cytochrome c oxidase activity was present in liver tissue. Because of the markedly higher levels of pyruvate and lactate in CSF compared with blood and an increased lactate/pyruvate ratio in CSF, there may also have been defective activity of cytochrome c oxidase in brain tissue. After a period of apparently normal development, the child's clinical condition gradually deteriorated and she died at age 6 years due to respiratory insufficiency. This study illustrates the fact that Leigh's disease is not linked to a single inherited molecular defect.

Submitted on December 13, 1976
Accepted on March 1, 1977




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