Acute profound dystonia in infants with glutaric acidemia.

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