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.
Gerstmann-Strssler-Scheinker (이하 GSS) disease는 드문 유전성 프라이온 질환으로 초기에 발생해 진행하는 소뇌실조와 후기에 발생하는 인지기능 저하가 특징적이다. 저자들은 진행하는 보행장애와 5개월 후 발생한 구음 장애, 인지 기능 저하를 주소로 내원한 39세 남성 환자의 증례를 보고하고자 한다. 뇌 MRI에서 양측 대뇌피질과 기저핵, 시상에 확산 저하를 동반한 T2 강조영상에서의 고신호 강도 병변이 관찰되었다. 환자는 모두 40–50대에 비슷한 증상을 호소하였던 가족력을 동반하였으며 PRNP 유전자 검사를 통해 GSS로 확진되었다.
Keywords: Gerstmann-Straussler-Scheinker Syndrome; Magnetic Resonance Imaging; Prion Disease; Prion Protein.
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