PEDIATRICS Vol. 79 No. 3 March 1987, pp. 370-373
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Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease)

Hans A. Kretzschmar MD1, Stephen J. DeArmond MD, PhD1, Thomas K. Koch MD1, Mulchand S. Patel PhD1, Christopher J. L. Newth MB1, Kathleen A. Schmidt RN, MS1, and Seymour Packman MD1

1 From the Departments of Pathology and Neurosurgery, and Divisions of Genetics, Intensive Care Medicine, Child Neurology of the Department of Pediatrics, University of California, San Francisco; and the Department of Biochemistry, Case Western Reserve University, Cleveland

Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarification requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such an 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.

Key Words: subacute necrotizing encephalopathy • Leigh disease • pyruvate dehydrogenase complex deficiency • lactic acidosis

Submitted on December 13, 1985
Accepted on May 29, 1986


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