TY - JOUR T1 - Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition JF - Practical Neurology JO - Pract Neurol SP - 424 LP - 426 DO - 10.1136/practneurol-2021-002992 VL - 21 IS - 5 AU - Maja Christensen AU - Mathew Wallis AU - Peter Jessup AU - Irène Lemelle AU - Dean L Jones Y1 - 2021/10/01 UR - http://pn.bmj.com/content/21/5/424.abstract N2 - 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. ER -