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Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition
journal contributionposted on 2023-05-20, 23:57 authored by Christensen, M, Mathew WallisMathew Wallis, Jessup, P, Lemelle, I, Dean JonesDean Jones
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.
Publication titlePractical Neurology
Department/SchoolTasmanian School of Medicine
Place of publicationUnited Kingdom
Rights statement© Author(s) (or their employer(s)) 2021