| Autor: |
Santos, Cesar C., Roach, E. Steve |
| Předmět: |
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| Zdroj: |
Journal of Child Neurology; Jul2005, Vol. 20 Issue 7, p588-590, 3p |
| Abstrakt: |
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 ofthe 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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