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Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition


Christensen, M and Wallis, M and Jessup, P and Lemelle, I and Jones, DL, Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition, Practical Neurology ISSN 1474-7758 (2021) [Refereed Article]

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

DOI: doi:10.1136/practneurol-2021-002992


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 Details

Item Type:Refereed Article
Keywords:cryopyrin-associated periodic syndrome, neurogenetics
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Neurogenetics
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Wallis, M (Dr Mathew Wallis)
UTAS Author:Jones, DL (Dr Dean Jones)
ID Code:144811
Year Published:2021
Web of Science® Times Cited:1
Deposited By:Medicine
Deposited On:2021-06-12
Last Modified:2022-08-23

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