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A difficult case
Sporadic fatal insomnia
  1. Marta Del Chicca1,
  2. Elisabetta Belli2,
  3. Valentina Nicoletti3,
  4. Enrico Bergamin1,
  5. Linda Giampietri1,
  6. Alessia Pascazio1,
  7. Michelangelo Maestri Tassoni3,
  8. Filippo Baldacci1,
  9. Gabriele Siciliano1,
  10. Gloria Tognoni3
  1. 1Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
  2. 2Neurology Unit, Versilia Hospital, Viareggio, Toscana, Italy
  3. 3Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy
  1. Correspondence to Dr Marta Del Chicca; marta.delchicca{at}gmail.com

Abstract

We describe a 63-year-old man diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD), specifically sporadic fatal insomnia, confirmed through real-time quaking-induced conversion (RT-QuIC) analysis of cerebrospinal fluid and polysomnography. He presented with rapid cognitive decline, behavioural changes, sleep disturbances and dysautonomic symptoms. Initial MR imaging, electroencephalogram and cerebrospinal fluid analyses were inconclusive, highlighting the difficulty in diagnosing this rare subtype of CJD. Clinical evaluation is fundamental in defining the diagnosis of sCJD. When clinical suspicion is strong, the diagnostic work-up should be continued. In this case, the combination of comprehensive clinical evaluations and advanced diagnostic tools, including RT-QuIC and polysomnography, proved essential in making a definitive diagnosis.

  • Creutzfeldt-Jakob disease
  • dementia
  • cognition
  • prion

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/pn-2024-004301

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

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    Footnotes

    • Contributors All authors were responsible for the clinical care of the patient. The initial draft was written by MDC and EBelli. All authors reviewed and contributed to the final manuscript. MDC is responsible for the overall content as guarantor.

    • 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 by Simon Mead, London, UK.

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