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Progressive encephalomyelitis with rigidity and myoclonus (PERM)
  1. Neil Grech1,2,
  2. John Paul Caruana Galizia3,
  3. Adrian Pace4
  1. 1Department of Medicine, Mater Dei Hospital, Msida, Malta
  2. 2Edinburgh Medical School: Clinical Sciences, The University of Edinburgh College of Medicine and Veterinary Medicine, Edinburgh, UK
  3. 3Department of Medicine, Gozo General Hospital, Victoria, Gozo, Malta
  4. 4Department of Neurology, Gozo General Hospital, Victoria, Gozo, Malta
  1. Correspondence to Dr Neil Grech, Department of Medicine, Mater Dei Hospital, Msida MSD 2090, Malta; neil.b.grech{at}gov.mt

Abstract

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement.

  • clinical neurology
  • stiff man syndrome
  • intensive care
  • spasticity
  • ENT

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Footnotes

  • Contributors The case was identified by AP. All authors were involved in the management of the patient. All authors contributed towards reporting 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 by Emma Tallantyre, Cardiff, UK.

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