| Summary: | Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically
characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare
case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance
followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom.
His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities
in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested
similar symptoms in their 40–50s, suggesting the possibility of a genetic disease. Finally, he
was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein
(PRNP) gene sequencing test.
|
|---|