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Neuropediatrics 1986; 17(1): 28-32
DOI: 10.1055/s-2008-1052495
© Georg Thieme Verlag KG Stuttgart · New York

Disturbed Oxidative Metabolism in Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)

P. M. M. van Erven1 , W.  Ruitenbeek1 , F.J. M. Gabreëls1 , W. O. Renier1 , J. C. Fischer2 , A.J. M. Janssen2
  • 1Department of Child Neurology, Institute of Neurology, St. Radboud University Hospital, P.O. Box 9101, NL-6500 HB Nijmegen,The Netherlands
  • 2Institute of Pediatrics, St. Radboud University Hospital, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Several disorders of oxidative metabolism have been described in association with subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome. We present an eight-year-old girl with a mild spastic paraparesis and clinical deterioration on intercurrent infections. One sib died of SNE proven by autopsy. Biochemical examination of muscle tissue points to a disturbance in the process of oxidative phosphorylation due to a disturbed oxidation of NADH. The biochemical disorders associated with SNE are reviewed. The relation of SNE to the concepts of encephalomyopathy and mitochondriopathy is discussed.

Key words

Leigh syndrome - CSF lactate and pyruvate - Mitochondriopathy - Oxidative phosphorylation