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Acute profound dystonia in infants with glutaric acidemia
I Bergman1, D Finegold, J C Gartner
1Department of Pediatrics, University Health Center of Pittsburgh.
Insights
Glutaric acidemia, a disorder of glutaryl-CoA dehydrogenase deficiency, can cause acute dystonia in infants. This condition may present with or without excessive urinary glutaric acid, impacting brain structure.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Glutaryl-CoA dehydrogenase deficiency is an inherited metabolic disorder.
- Infantile dystonia is a movement disorder characterized by muscle stiffness and spasms.
Observation:
- Three infants presented with acute dystonia and were diagnosed with glutaryl-CoA dehydrogenase deficiency.
- Neuroradiologic studies showed enlarged cerebrospinal fluid spaces in the sylvian fissures and anterior temporal lobes.
- Brain pathology revealed cerebral/cerebellar atrophy, putaminal shrinkage, and white matter vacuolation.
Findings:
- Glutaryl-CoA dehydrogenase deficiency was confirmed via cultured skin fibroblasts.
- Two patients exhibited excessive urinary glutaric acid; one did not, suggesting variable metabolic presentation.
- Brain imaging and pathology correlated with neurological symptoms.
Implications:
- Glutaric acidemia is identified as a potential common cause of acquired dystonia or choreoathetosis in infancy.
- Early diagnosis and understanding of glutaric acidemia are crucial for managing infantile movement disorders.
- This study highlights the importance of considering metabolic disorders in unexplained neurological conditions in infants.
Abstract:
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.