Download PDF
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
Further Information

Publication History

Publication Date:
19 March 2008 (online)

  PDF Download  Permissions and Reprints

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

      >