TY - JOUR T1 - Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2019-229729 VL - 12 IS - 8 SP - e229729 AU - Aiyang Allen Jiang AU - Katherine Longardner AU - Dennis Dickson AU - Rebecca Sell Y1 - 2019/08/01 UR - http://casereports.bmj.com/content/12/8/e229729.abstract N2 - Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare cause of genetic prion disease. Overlapping neurological, cognitive and psychiatric symptoms make GSS difficult to diagnose based on clinical features alone. We present a 40-year-old man without relevant medical or family history who developed progressive neurocognitive and behavioural symptoms over 3 years. Initial extensive diagnostic workup of his variable motor symptoms was unrevealing and he was diagnosed with conversion disorder. This diagnosis persisted for over 2 years, despite progressive neurocognitive symptoms. He eventually developed dementia and severe neurological impairment. Repeat brain MRI revealed generalised cortical volume loss, establishing the diagnosis of a rapidly progressive neurodegenerative process. He ultimately died from aspiration pneumonia at age 43. Postmortem neuropathological examination showed widespread multicentric prion protein amyloid plaques characteristic of GSS. Ultimately, genetic testing of brain tissue revealed a heterozygous A117V variant in the PNRP gene, confirming the diagnosis. ER -