Skip to content


  • Meeting abstract
  • Open Access

P02-030 - Unusual CNS manifestation

  • 1,
  • 2,
  • 1 and
  • 1
Pediatric Rheumatology201311 (Suppl 1) :A137

  • Published:


  • Optic Neuritis
  • Tension Type Headache
  • Hyperintense White Matter
  • NLRP3 Inflammasome
  • Tendinitis


Cryopyrin-associated periodic syndrome (CAPS) is a rare systemic, monogenetic inherited autoinflammatory condition caused by NLRP3/CIAS 1 gene mutations encoding for cryopyrin, a major component of the inflammasome, leading to an excessive production of interleukin-1beta (IL-1ß). The clinical picture of genetic variations of the NLRP3 inflammasome is characterized by recurrent episodes of systemic inflammation involving skin, joints, eyes and the central nervous system and shows variable penetrance regarding disease severity and symptoms.

Case report

Here, we report an unusual case of a 43 year-old woman who presented to us with diagnosis of CRION (chronic relapsing inflammatory optic neuropathy) due to recurrent episodes of optic neuritis on both eyes leading to atrophy of the left optical nerve with blindness. Repeated cerebral MRI scan showed an unusual excessive contrast enhancement involving both optic nerves with massive swelling as well as contrast enhancement in the oculomotor nerve and the pituitary gland. Additionally a few unspecific hyperintense white matter lesions were seen. Examination of the cerebrospinal fluid (CSF) revealed a mild pleocytosis and oligoclonal bands. Extensive laboratory investigations for other inflammatory CNS diseases as well as rheumatological diseases remained all unremarkable. Treatment with high dose i.v. steroids improved visual acuity, but worsened again after cessation of steroid therapy.

Furthermore the patient reported about intermittent tendinitis and tension type headache. Laboratory examinations revealed recurrent increased levels of Serum Amyloid A (SAA) and C-reactive protein (CRP). Molecular genetic testing showed a homozygous Q703K mutation in Exon 3 of the NLRP3/CIAS 1 gene. Diagnosis of CAPS was set and high dose anti-Interleukin 1 therapy initiated which led so far to moderate improvement of the CNS inflammation as well as reduction of SAA levels. The patient is currently followed up.


This is an unusual and severe CNS manifestation in a patient homozygous for the Q703K variant in exon 3 of the NLRP3/CIAS 1 gene which has been considered so far as a low-penetrance mutation with a mild phenotype. Ocular manifestations including optic nerve atrophy usually occur in classical CICNA/NOMID patients. This case illustrates that CAPS should be also considered in adult patients with chronic recurrent optic neuritis and additional symptoms suggestive of an autoinflammatory syndrome.

Disclosure of interest

E. Schuh: None Declared, P. Lohse: None Declared, I. Meinl: None Declared, T. Kümpfel Grant / Research Support from: Novartis.

Authors’ Affiliations

Neurology, Institute of Clinical Neuroimmunology, Munich, Germany
Laboratoriumsmedizin, Labor Blessing, Singen, Germany


  1. Vitale A, Lucherini OM: Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clinical and Experimental Rheumatology. 2012Google Scholar
  2. Tarabishy Ahmad Bakir, Hise Amy G, Traboulsi Elias I: Ocular manifestations of the autoinflammatory syndromes. Ophtalmic genetics. 2012Google Scholar
  3. Kidd , Burton B, Plant GT, Graham EM: Chronic relapsing inflammatory optic neuropathy (CRION). Brain. 2003Google Scholar


© Schuh et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.