Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition.
Pract Neurol
; 21(5): 424-426, 2021 Oct.
Article
em En
| MEDLINE
| ID: mdl-34112663
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipertensão Intracraniana
/
Síndromes Periódicas Associadas à Criopirina
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Perda Auditiva Neurossensorial
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Humans
/
Male
Idioma:
En
Revista:
Pract Neurol
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Austrália