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

Abstract

Background: 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.

Aim of the study: To describe early MR findings in adult-onset Krabbe disease.

Materials and methods: 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.

Results: 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.

Conclusions: 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.