Neurologic manifestations of the cryopyrin-associated periodic syndrome

Neurology. 2010 Apr 20;74(16):1267-70. doi: 10.1212/WNL.0b013e3181d9ed69.


Background: The cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable hereditary autoinflammatory condition. Without treatment, one third of patients develop amyloidosis with consequent renal failure and death. CAPS encompasses 3 conditions: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile, neurologic, cutaneous, and articular syndrome. Neurologic complications are common in children with the chronic infantile, neurologic, cutaneous, and articular phenotype, but there are no previous published reports of neurologic features in adults with milder phenotypes.

Methods: In this case series, we report in detail an adult case of CAPS and summarize the neurologic features seen in 12 other adults with genetically proven CAPS. These patients participated in a recent randomized study of canakinumab in CAPS and we used pretreatment data collected in this study.

Results: Twelve of the 13 patients (92%) had headache, of whom 10 (77%) had features of migraine. Seven patients (54%) had sensorineural deafness. Nine patients (69%) reported myalgia. Six patients (46%) had papilledema and a further 2 (15%) had optic disc pallor. MRI brain scan was normal in all patients.

Conclusion: CAPS is a rare but treatable condition that may be encountered by neurologists in adult clinical practice since it can present with headache, myalgia, papilledema, sensorineural deafness, and aseptic meningitis. Unrecognized and untreated, it can lead to significant morbidity and mortality from renal failure. Treatment with anti-interleukin-1 therapy leads to complete resolution of symptoms and should also prevent progression to amyloidosis and subsequent renal failure.

Publication types

  • Case Reports
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies, Monoclonal / pharmacology
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Carrier Proteins / genetics
  • Cryopyrin-Associated Periodic Syndromes / complications*
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Cryopyrin-Associated Periodic Syndromes / physiopathology*
  • Genetic Predisposition to Disease / genetics
  • Headache / etiology
  • Hearing Loss, Sensorineural / etiology
  • Humans
  • Interleukin-1 / antagonists & inhibitors
  • Interleukin-1 / metabolism
  • Male
  • Meningitis, Aseptic / etiology
  • Muscular Diseases / etiology
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Nervous System / immunology
  • Nervous System / metabolism
  • Nervous System / physiopathology
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / physiopathology*
  • Papilledema / etiology
  • Phenotype
  • Treatment Outcome
  • Young Adult


  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Carrier Proteins
  • Interleukin-1
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • canakinumab