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Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition
Citation
Christensen, M and Wallis, M and Jessup, P and Lemelle, I and Jones, DL, Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition, Practical Neurology ISSN 1474-7758 (2021) [Refereed Article]
Copyright Statement
© Author(s) (or their employer(s)) 2021
DOI: doi:10.1136/practneurol-2021-002992
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.
Item Details
| Item Type: | Refereed Article |
|---|---|
| Keywords: | cryopyrin-associated periodic syndrome, neurogenetics |
| Research Division: | Biological Sciences |
| Research Group: | Genetics |
| Research Field: | Neurogenetics |
| Objective Division: | Health |
| Objective Group: | Clinical health |
| Objective Field: | Diagnosis of human diseases and conditions |
| UTAS Author: | Wallis, M (Dr Mathew Wallis) |
| UTAS Author: | Jones, DL (Dr Dean Jones) |
| ID Code: | 144811 |
| Year Published: | 2021 |
| Deposited By: | Medicine |
| Deposited On: | 2021-06-12 |
| Last Modified: | 2021-09-21 |
| Downloads: | 0 |
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