J. L. Willems1, L.A.H. Monnens1, J. M. F. Trijbels1, J.H. Veerkamp1, Adam Meyer1, K. Van Dam1, U. van Haelst1
1Departments of Pediatrics, Biochemistry, and Pathology, University of Nijmegen, and the Departments of Pathology and Biochemistry, University of Amsterdam, The Netherlands
Tóm tắt
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 β-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.
