PEDIATRICS Vol. 83 No. 2 February 1989, pp. 228-234
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Acute Profound Dystonia in Infants With Glutaric Acidemia

Ira Bergman MD1, David Finegold MD1, J. Carlton Gartner Jr MD1, Basil J. Zitelli MD1, Diana Claassen MD1, Jenaro Scarano MD1, Charles R. Roe MD1, Charles Stanley MD1, and Stephen I. Goodman MD1

1 The Departments of Pediatrics and Neurology, University Health Center of Pittsburgh, Children's Hospital of Pittsburgh; Department of Pathology, Magee-Women's Hospital, Pittsburgh; Department of Pediatrics, Ponce School of Medicine, Ponce, Puerto Rico; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina; Department of Pediatrics, University of Pennsylvania Medical School, Children's Hospital of Philadelphia; and Department of Pediatrics, University of Colorado School of Medicine, Denver

Acute profound dystonia developed in three previously well infants who were found to have glutaryl-CoA dehydrogenase deficiency in cultured skin fibroblasts. Two patients had excessive urinary excretion of glutaric acid, but one did not. Neuroradiologic studies performed in all three patients at the onset of their illnesses revealed large CSF-containing spaces both within the sylvian fissures and anterior to the temporal lobes. Pathologic examination of the brain of one patient demonstrated cerebral and cerebellar atrophy, shrinkage of the putamen, and white matter vacuolation. Glutaric acidemia may be a common cause of acquired persistent dystonia or choreoathetosis in infancy.

Key Words: dystonia • encephalopathy • glutaric acidemia • glutaric aciduria

Submitted on October 14, 1987
Accepted on January 20, 1988




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