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Rare disease
CASE REPORT
Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder
  1. Aiyang Allen Jiang1,
  2. Katherine Longardner2,
  3. Dennis Dickson3 and
  4. Rebecca Sell4
  1. 1 Internal Medicine, UC San Diego, San Diego, California, USA
  2. 2 Neurology, University of California San Diego, La Jolla, California, USA
  3. 3 Department of Pathology, Mayo Clinic Jacksonville, Jacksonville, USA
  4. 4 Division of Pulmonary, Critical Care, and Sleep Medicine, University of California San Diego, San Diego, California, USA
  1. Correspondence to Dr Aiyang Allen Jiang, aij004{at}ucsd.edu

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.

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

https://doi.org/10.1136/bcr-2019-229729

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    Footnotes

    • Contributors AAJ was the primary author, writing the initial manuscript and further edits. KL is a coauthor, helped with revising the manuscript along with contacting the family members. DD provided revisions along with pathology images. RS aided in revising the manuscript and providing ideas for discussion.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Next of kin consent obtained.