MR imaging and spectroscopy in Lhermitte-Duclos disease

Lhermitte-Duclos disease is a rare abnormality occurring in the cerebellum with only 130 cases reported in the literature. There is debate as to whether this abnormality is a hamartoma, a malformation or a tumour. In this case report we discuss the spectroscopy findings from two patients presenting with this disease. The patients, one 40-year-old Caucasian woman with a 6-year history of headaches, unsteady gait and falls, deterioration in vision and another 28-year-old Caucasian man with a 1-year history of headaches and a previous history of a transient stroke, were found to have this lesion in the cerebellum. Proton spectroscopic data were obtained using a single-voxel PRESS technique (TE=135 ms, TR=1600 ms), from the region of the abnormality. The results were expressed as ratios under the three prominent resonances representing choline (Cho), creatine (Cr), and N-acetyl (NA) moieties. The metabolite ratios were compared to normative data. The two cases demonstrated reduced ratios in NA/Cho and NA/Cr in relation to the controls. The ratios of Cho/Cr appeared closer to the normal mean ratio. There were peaks attributable to lactate in both cases. The low NA/Cr and NA/Cho ratios could be due to the apparent lack of neuronal architecture and the presence of embryonic neural tissue, which does not express NA, indicating more favourably towards a 'benign' hamartoma rather than a tumour.