Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease)

J. A. Kretzschmar, S. J. DeArmond, T. K. Koch, M. S. Patel, C. J. Newth, K. A. Schmidt, S. Packman

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60 Scopus citations

Abstract

Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarificaton requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such as unambiguous association is the subject of this report. A patient with well-documented clinical and biochemical pyruvate dehydrogenase complex deficiency is shown on postmortem examination to have the specific CNS pathology of Leigh disease. These findings, considered together with the aggregate data in the literature, suggest strongly that pyruvate dehydrogenase complex deficiency is the basic defect in a subgroup of patients with Leigh disease.

Original languageEnglish (US)
Pages (from-to)370-373
Number of pages4
JournalPediatrics
Volume79
Issue number3
StatePublished - Apr 21 1987

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Kretzschmar, J. A., DeArmond, S. J., Koch, T. K., Patel, M. S., Newth, C. J., Schmidt, K. A., & Packman, S. (1987). Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics, 79(3), 370-373.