Background: Lhermitte-Duclos disease (LDD) stems from the development of a rare benign lesion of uncertain pathogenesis that distorts the normal cerebellar laminar cytoarchitecture. We explored the lesion's appearance on conventional magnetic resonance imaging (MRI) combined with susceptibility-weighted imaging, diffusion-weighted imaging, perfusion imaging, or arterial spin labeling. Although many cases of LDD have been previously reported in the literature, the radiologic-pathologic correlation has been described in only a few of these cases. To the best of our knowledge, this is the first case report to provide detailed information about the radiologic-pathologic correlation of LDD. Case Report: A 48-year-old woman presented with left facial tics, occipital headache, and dizziness for 1 month. MRI revealed a left cerebellar lesion with hypointensity on T1-weighted images. On T2-weighted images, the mass was hyperintense with tigroid appearance due to alternating high and normal signal intensities. High signal intensity was noted on fluid-attenuated inversion recovery images. Magnetic resonance spectroscopy indicated decreased level of choline (Cho), N-acetyl aspartate, and myoinositol with elevated level of lactate on the affected side. The lesion showed a bright signal on diffusion-weighted images, whereas apparent diffusion coefficient mapping revealed no disturbance of diffusion. The pathology of the excised lesion was consistent with LDD. Conclusion: MRI with advanced techniques can provide not only preoperative diagnosis but also better pathologic correlation.
Keywords: ASL, arterial spin labeling; CS, Cowden syndrome; CT, computed tomography; Cho, choline; DWI, diffusion-weighted imaging; EMA, epithelial membrane antigen; FLAIR, fluid-attenuated inversion recovery images; GFAP, glial fibrillary acidic protein; LDD, Lhermitte-Duclos disease; Lhermitte-Duclos disease; MI, myoinositol; MR, magnetic resonance; MRI; MRI, magnetic resonance image; MRS, magnetic resonance spectroscopy; NAA, N-acetyl aspartate; NCV, nerve conduction velocity; PTEN, phosphatase and tensin homologue; Radiologic-pathologic correlation; SWI, susceptibility-weighted imaging.