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Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition
  1. Maja Christensen1,
  2. Mathew Wallis2,3,
  3. Peter Jessup4,
  4. Irène Lemelle5,
  5. Dean L Jones1,3
  1. 1 Department of Neurology, Royal Hobart Hospital, Hobart, Tasmania, Australia
  2. 2 Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia
  3. 3 School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
  4. 4 Department of Pathology, Royal Hobart Hospital, Hobart, Tasmania, Australia
  5. 5 Département de Pédiatrie, Centre Hospitalier Regional Universitaire de Nancy, Nancy, Lorraine, France
  1. Correspondence to Dr Dean L Jones, Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia; dean.jones{at}utas.edu.au

Abstract

A 20-year-old man presented with recurrent subdural haemorrhages on a background of progressive sensorineural hearing loss, juvenile idiopathic arthritis and intracranial hypertension of unknown cause. His mother had a similar previous history. They both had a persistently mildly elevated serum C reactive protein. Repeat lumbar punctures identified persistently elevated intracranial pressure and mild pleocytosis. A dural biopsy showed necrotising pachymeningitis with granulomatous vasculitis. The underlying cause in both patients was a cryopyrin-associated periodic syndrome. We discuss its varied phenotype and how clinicians need to be aware of this treatable genetic condition to facilitate early treatment and to prevent accumulation of disability.

  • neurogenetics
  • neuropathology
  • clinical neurology

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Footnotes

  • Contributors There are no contributors other than the authors.

  • 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 Provenance and peer review. Not commissioned. Externally peer reviewed by Lucy Kinton, Southampton, UK.

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