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CASE REPORT
Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto’s encephalopathy
  1. Jessica M Stevens,
  2. Matthew R Levine,
  3. Anne E Constantino,
  4. Gholam K Motamedi
  1. Department of Neurology, MedStar Georgetown University Hospital, Washington, District of Columbia, USA
  1. Correspondence to Dr Gholam K Motamedi, motamedi{at}georgetown.edu

Summary

Fatal familial insomnia (FFI) is a rare prion disease commonly inherited in an autosomal dominant pattern from a mutation in the PRioN Protein (PRNP) gene. Hashimoto’s encephalopathy (HE) is characterised by encephalopathy associated with antithyroid peroxidase (TPO) or antithyroglobulin (Tg) antibodies. These two conditions characteristically have differing clinical presentations with dramatically different clinical course and outcomes. Here, we present a case of FFI mimicking HE. A woman in her 50s presented with worsening confusion, hallucinations, tremor and leg jerks. Several maternal relatives had been diagnosed with FFI, but the patient had had negative genetic testing for PRNP. MRI of brain, cervical and thoracic spine were unremarkable except for evidence of prior cervical transverse myelitis. Cerebrospinal fluid analysis was normal. Anti-TPO and anti-Tg antibodies were elevated. She was started on steroids for possible HE and showed improvement in symptoms. Following discharge, the results of her PRNP gene test returned positive for variant p.Asp178Asn.

  • neuro genetics
  • variant creutzfeld-jakob disease
  • memory disorders
  • sleep disorders (neurology)
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Footnotes

  • Contributors All authors have contributed to patient care, obtaining history, examining the patient, manuscript preparation, data interpretation and discussion. They also contributed in terms of planning, conduct, reporting, conception and design, acquisition of data, data interpretation and manuscript writing.

  • 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.

  • Patient consent Next of kin consent obtained.

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

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