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Pyruvate dehydrogenase deficiency restricted to brain

From the Institute of Neurology (Department of Child Neurology; Head, Dr. Gabreëls) and the Institute of Pediatrics (Dr. Trijbels), Radboud University Hospital, Nijmegen, The Netherlands.

Address correspondence and reprint requests to Dr. Gabreels, Department of Child Neurology, Institute of Neurology, Radboud University Hospital, Box 9101, 6500 HB Nijmegen, the Netherlands.

We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studies showed elevated levels of lactate and pyruvate in cerebrospiral fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive polio-dystrophy with hypomyelination.

Accepted for publication June 25, 1980.