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.

中文翻译：

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Cryopyrin 相关周期性综合征：一种可治疗的遗传炎症性疾病

一名 20 岁男性因进行性感觉神经性听力损失、幼年特发性关节炎和不明原因颅内高压而出现反复硬膜下出血。他的母亲以前也有类似的病史。他们都有持续轻度升高的血清 C 反应蛋白。重复腰椎穿刺发现颅内压持续升高和轻度细胞增多。硬脑膜活检显示坏死性硬脑膜炎伴肉芽肿性血管炎。两名患者的根本原因是低温吡啶相关的周期性综合征。我们讨论了其不同的表型，以及临床医生需要如何了解这种可治疗的遗传病，以促进早期治疗并防止残疾累积。