Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy

BMJ Case Reports
Jessica M StevensGholam K Motamedi

Abstract

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.

References

Feb 13, 1992·The New England Journal of Medicine·R MedoriP Cortelli
Aug 3, 1995·Nature·J TateishiD C Gajdusek
May 18, 2001·The New England Journal of Medicine·S B Prusiner
Jan 21, 2004·Archives of Neurology·Sian D SpaceyHoward Feldman
Oct 18, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·J J ZarranzM M de Pancorbo
Feb 16, 2006·Archives of Neurology·Pablo CastilloBrad Boeve
Jul 5, 2006·The European Journal of Neuroscience·Till VoigtländerHerbert Budka
Mar 11, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·James A Mastrianni
Nov 20, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·A KrasnianskiI Zerr
Feb 26, 2016·Lancet Neurology·Francesc GrausJosep Dalmau

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