A case of Gerstmann-Sträussler-Scheinker syndrome

Gerstmann-Sträussler-Scheinker syndrome (GSS syndrome) is a rare hereditary disorder caused by prion protein gene mutation. We present the case of a 31-year-old man, whose signs and symptoms gradually progressed from loss of attention while driving at onset to headache, dysarthria, night sweat, fatigue, and dysgraphia. Diffusion-weighted imaging (DWI) of the brain after admission showed high signal intensities in the bilateral caudate nuclei, bilateral thalami, and cerebral cortices that suggested transmissible spongiform encephalopathy. The patient was diagnosed with GSS syndrome on genetic study. Magnetic resonance (MR) imaging of the entire period of sickbed showed gradually changing signal intensities and cerebral atrophy. We present a series of images and discuss the reasons for the abnormal intensities in GSS syndrome that vary among reported cases.