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  • Title: Glutaric aciduria type I: a neuroimaging diagnosis?
    Author: Santos CC, Roach ES.
    Journal: J Child Neurol; 2005 Jul; 20(7):588-90. PubMed ID: 16159525.
    Abstract:
    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 hyperintensity 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.
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