Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder

Aiyang Allen Jiang, Katherine Longardner, Dennis Dickson, Rebecca Sell

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Article numbere229729
JournalBMJ case reports
Volume12
Issue number8
DOIs
StatePublished - 2019

Keywords

  • movement disorders (other than parkinsons)
  • neurology
  • somatoform disorders
  • variant creutzfeld-jakob disease

ASJC Scopus subject areas

  • Medicine(all)

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