{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:51:53Z","timestamp":1757613113229,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2021,5,3]]},"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/practneurol-2021-002992","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T13:26:20Z","timestamp":1623331580000},"page":"424-426","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition"],"prefix":"10.1136","volume":"21","author":[{"given":"Maja","family":"Christensen","sequence":"first","affiliation":[{"name":"Department of Neurology, Royal Hobart Hospital, Hobart, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathew","family":"Wallis","sequence":"additional","affiliation":[{"name":"Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia"},{"name":"School of Medicine, University of Tasmania, Hobart, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Jessup","sequence":"additional","affiliation":[{"name":"Department of Pathology, Royal Hobart Hospital, Hobart, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e8ne","family":"Lemelle","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, Centre Hospitalier Regional Universitaire de Nancy, Nancy, Lorraine, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean L","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal Hobart Hospital, Hobart, Tasmania, Australia"},{"name":"School of Medicine, University of Tasmania, Hobart, Tasmania, 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Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2021-002992","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T17:27:15Z","timestamp":1757006835000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2021-002992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,10]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,9,17]]},"published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1136\/practneurol-2021-002992"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2021-002992","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2021,6,10]]}}}