OBSERVATION In Vivo Detection of Thalamic Gliosis

S EVERAL REPORTS HAVE UNDERlined the usefulness of brain magnetic resonance imaging (MRI) in the diagnosis of Creutzfeldt-Jakob disease. The fluid-attenuated inversion recovery (FLAIR) sequence and dif fusionweighted imaging (DWI) are considered highly sensitive sequences to detect signal alteration of the cortex and deep gray matter. Advances in therapeutic approaches for patients with prion diseases have emphasized the need for earlier diagnostic markers that would authorize the onset of treatment before severe and irreversible lesions of the brain occur. We designed a radioclinical prospective study using a multimodality MRI standardized procedure that aimed to estimate the differential sensitivities of FLAIR, DWI, and magnetic resonance spectroscopy for the diagnosis of human prion diseases. As part of this study, we focused on a patient with fatal familial insomnia and the D178N129M mutation. From the neuroradiological point of view, fatal familial insomnia is probably the most challenging diagnosis among human prion diseases, because neuropathologic studies show very limited brain lesions compared with sporadic and variant Creutzfeldt-Jakob disease cases, which usually exhibit severe spongiform change and gliosis in the cortex and deep gray matter.