Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition. Issue 5 (10th June 2021)

• Record Type: Journal Article
• Authors: Christensen, Maja; Wallis, Mathew; Jessup, Peter; Lemelle, Irène; Jones, Dean L
• Is Part Of: Practical neurology. Volume 21:Issue 5(2021)
• Page Start: 424
• Page End: 426
• Publication Date: 2021-06-10
• Subjects: neurogenetics -- neuropathology -- clinical neurology; Neurology -- Periodicals; 616.8005
• DOI: 10.1136/practneurol-2021-002992
• Languages: English
• ISSNs: 1474-7758

Abstract

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.