The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease

Abstract

Adult-onset Krabbe disease is an uncommon form of leukodystrophy. Its magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) manifestations are not well documented. To describe early MR findings in adult-onset Krabbe disease. A 28-year-old woman who had spastic paraparesis and a 5-year history of gait problems underwent MRI of the brain and cervical spine. Proton MRS was performed at 1.5 T using a short echo time. Metabolites were analyzed in the areas of MR signal abnormalities and normal-appearing brain. Six healthy volunteers were examined as controls. MRI revealed changes in the upper corticospinal tracts, splenium and, minimally, adjacent to the atria of the lateral ventricles. MRS showed decreased creatine, choline, N-acetylaspartate and glutamate and probably elevated lactate in the upper corticospinal tract but not in the normal-appearing frontal lobe. The spinal cord was thin. Laboratory tests verified Krabbe disease. These results indicate early involvement of the upper corticospinal tract in adult-onset Krabbe disease. The cases reported earlier had imaging changes indicating a more advanced disease or no MR findings. Thinning of the spinal cord is a new finding in Krabbe disease.