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Fatal insomnia: the elusive prion disease
  1. Dharmini Patel1,
  2. Hagar Ibrahim2,
  3. Julia Rankin3,
  4. David Hilton4,
  5. Marcelo A Barria5,
  6. Diane L Ritchie5,
  7. Colin Smith6 and
  8. Adam Zeman7
  1. 1Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  2. 2Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
  3. 3Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
  4. 4Department of cellular and anatomical pathology, University Hospitals Plymouth NHS Trust, Plymouth, UK
  5. 5The National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, Scotland
  6. 6Department of Neuropathology, University of Edinburgh, Edinburgh, UK
  7. 7College of Medicine and Health, University of Exeter, Exeter, UK
  1. Correspondence to Dr Dharmini Patel; dharmini.patel{at}nhs.net

Abstract

A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient died from pneumonia and pulmonary embolus. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI); the diagnosis was confirmed on genetic testing. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP. Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. Patient management is with best supportive care and early suspected diagnosis allows for timely palliation.

  • memory disorders
  • neuro genetics
  • sleep disorders (neurology)

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Footnotes

  • Contributors DP: planning, drafting, execution and final amendments to this case report as first author. HI, JR, DH, MAB, DR and CS are contributing authors and to the critical revision and provision of supplementary files to the report. AZ: guarantor who managed the patient in this case report and who has taken decision to publish the case.

  • 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.

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