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Journal of Child Neurology
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Glutaric Aciduria Type I: A Neuroimaging Diagnosis?

Cesar C. Santos, MD

Department of Neurology, Section of Child Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, csantos{at}wfubmc.edu.

E. Steve Roach, MD

Department of Neurology, Section of Child Neurology, Wake Forest University School of Medicine, Winston-Salem, NC

Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl—coenzyme A (CoA) dehydrogenase deficiency. We report a previously healthy 17-month-old girl who presented with acute dystonia. Conventional T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyper-intensity in the caudates and putamina bilaterally with subtle involvement of the medial frontal lobes. Diffusion-weighted magnetic resonance images showed striking restricted diffusion in the caudates and putamina consistent with acute necrosis. Single-voxel hydrogen magnetic resonance spectroscopy of the involved areas was normal. The clinical diagnosis of glutaric aciduria type I was confirmed by elevation of 3-hydroxyglutaric and glutaric acids. Diffusion-weighted magnetic resonance imaging is a sensitive indicator of basal ganglia necrosis in glutaric aciduria type I. (J Child Neurol 2005;20:588—590).

Journal of Child Neurology, Vol. 20, No. 7, 588-590 (2005)
DOI: 10.1177/08830738050200070901
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