{
  "abstract": "Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder resulting from mutations in the NLRP3 gene, leading to excessive interleukin-1β production and persistent systemic inflammation. Although classically characterised by recurrent fevers, urticarial rash, and progressive sensorineural hearing loss, the clinical heterogeneity of CAPS often results in diagnostic delays.We report the case of a Somali woman in her 20s who presented with bilateral optic disc swelling, progressive sensorineural hearing loss, and recurrent headaches, initially raising suspicion for intracranial hypertension. Despite the absence of typical febrile episodes and overt systemic inflammation, her persistent symptoms warranted further investigation. Genetic testing revealed a heterozygous pathogenic NLRP3 mutation (c.2576A>G, p.(Tyr859Cys)), confirming a diagnosis of CAPS within the Muckle-Wells spectrum.This case highlights the importance of recognising CAPS as a differential diagnosis in patients presenting with unexplained intracranial hypertension and progressive hearing loss. A delayed diagnosis carries significant morbidity, including the risk of amyloidosis, irreversible hearing loss, and vision impairment. Given the broad phenotypic spectrum of CAPS, neurologists should maintain a high index of suspicion and incorporate genetic testing into the evaluation of patients with refractory systemic inflammatory symptoms. Early initiation of IL-1 inhibition can substantially modify disease trajectory, preventing long-term complications and improving patient outcomes.",
  "authors": [
    {
      "affiliations": [
        "Neurology, Fiona Stanley Hospital, Perth, WA, Australia",
        "Neurology, Royal Perth Hospital, Perth, WA, Australia"
      ],
      "name": "Ravi Ambati"
    },
    {
      "affiliations": [
        "Neurology, Royal Perth Hospital, Perth, WA, Australia"
      ],
      "name": "Carolyn Orr"
    },
    {
      "affiliations": [
        "Neurology, Royal Perth Hospital, Perth, WA, Australia"
      ],
      "name": "Wai Leong"
    }
  ],
  "title": "3618 Atypical neurological presentation of cryopyrin-associated periodic syndrome: a diagnostic challenge for neurologists",
  "uid": "d30d6e7e-031e-5362-b889-e9573b230435"
}