Glutaric Aciduria Type I: Value of Diffusion-Weighted Magnetic Resonance Imaging for Diagnosing Acute Striatal Necrosis

Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase. We report the cranial computed tomography (CT) and magnetic resonance (MR) imaging findings in a 5-month-old girl with this disorder who presented with an acute dystonic syndrome. CT findings demonstrated only subtle loss of attenuation in the basal ganglia, MR spectroscopy was normal, and conventional MR images showed increased T2-signal limited to the putamina. Diffusion-weighted MR imaging demonstrated more extensive disease than was apparent either on CT or on the conventional MR images, including bilateral involvement of the putamina, globus pallidus, and caudate nuclei, consistent with acute necrosis of the corpus striatum and lentiform nuclei.