@article {Christensen424, author = {Maja Christensen and Mathew Wallis and Peter Jessup and Ir{\`e}ne Lemelle and Dean L Jones}, title = {Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition}, volume = {21}, number = {5}, pages = {424--426}, year = {2021}, doi = {10.1136/practneurol-2021-002992}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {1474-7758}, URL = {https://pn.bmj.com/content/21/5/424}, eprint = {https://pn.bmj.com/content/21/5/424.full.pdf}, journal = {Practical Neurology} }