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Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition

Christensen, M, Wallis, M ORCID: 0000-0002-5441-1732, Jessup, P, Lemelle, I and Jones, DL ORCID: 0000-0003-4366-1987 2021 , 'Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition' , Practical Neurology , doi: 10.1136/practneurol-2021-002992.

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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.

Item Type: Article
Authors/Creators:Christensen, M and Wallis, M and Jessup, P and Lemelle, I and Jones, DL
Keywords: cryopyrin-associated periodic syndrome, neurogenetics
Journal or Publication Title: Practical Neurology
Publisher: Blackwell Science
ISSN: 1474-7758
DOI / ID Number: 10.1136/practneurol-2021-002992
Copyright Information:

© Author(s) (or their employer(s)) 2021

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