Literature DB >> 25614348

[Papillary edema in Muckle-Wells syndrome].

G Wirths1, U Grenzebach2, N Eter2.   

Abstract

Papillary edema may occur isolated without functional impairment or secondary related to various syndromes, increased intracerebral pressure or associated with medicinal treatment. The Muckle-Wells syndrome is a rare disease, which among many other symptoms can lead to optic disc swelling and recurrent increase in intracerebral pressure. Besides familial cold-induced autoinflammatory syndrome (FCAS) and neonatal onset multisystem inflammatory disease (NOMID), the Muckle-Wells syndrome also belongs to the cryopyrin-associated periodic syndromes (CAPS). In most cases of CAP syndromes there is an underlying genetic disorder that leads to overproduction of interleukin-1β (IL-1β); therefore, typical symptoms include inflammation reactions, such as repeated skin rash, fatigue, fever, joint pain and conjunctivitis.

Entities:  

Keywords:  Cryopyrin-associated periodic syndromes; Genetic disorder; Inflammatory reaction; Intracerebral pressure; Papillary edema

Mesh:

Substances:

Year:  2015        PMID: 25614348     DOI: 10.1007/s00347-014-3221-y

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  8 in total

1.  Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

Authors:  Nicolás Alejandre; Ana Ruiz-Palacios; Angel M García-Aparicio; Fiona Blanco-Kelly; Sandra Bermúdez; Guillermo Fernández-Sanz; Fredeswinda I Romero; Juan I Aróstegui; Carmen Ayuso; Ignacio Jiménez-Alfaro; Gabriel Herrero-Beaumont; Olga Sánchez-Pernaute
Journal:  Rheumatology (Oxford)       Date:  2014-06       Impact factor: 7.580

2.  Longterm followup of quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab, an anti-interleukin 1β monoclonal antibody.

Authors:  Céline Marsaud; Isabelle Marie; Isabelle Koné-Paut
Journal:  J Rheumatol       Date:  2014-08       Impact factor: 4.666

3.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Authors:  H M Hoffman; J L Mueller; D H Broide; A A Wanderer; R D Kolodner
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

4.  [Cryopyrin-associated periodic syndrome].

Authors:  J B Kümmerle-Deschner
Journal:  Z Rheumatol       Date:  2012-04       Impact factor: 1.372

5.  Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood.

Authors:  H Dollfus; R Häfner; H M Hofmann; R A Russo; L Denda; L D Gonzales; C DeCunto; J Premoli; J Melo-Gomez; J P Jorge; R Vesely; M Stubna; J L Dufier; A M Prieur
Journal:  Arch Ophthalmol       Date:  2000-10

6.  Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Authors:  R Levy; L Gérard; J Kuemmerle-Deschner; H J Lachmann; I Koné-Paut; L Cantarini; P Woo; A Naselli; B Bader-Meunier; A Insalaco; S M Al-Mayouf; S Ozen; M Hofer; J Frenkel; C Modesto; I Nikishina; T Schwarz; S Martino; A Meini; P Quartier; A Martini; N Ruperto; B Neven; M Gattorno
Journal:  Ann Rheum Dis       Date:  2014-07-18       Impact factor: 19.103

7.  Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.

Authors:  Philip N Hawkins; Helen J Lachmann; Ebun Aganna; Michael F McDermott
Journal:  Arthritis Rheum       Date:  2004-02

8.  Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra.

Authors:  Celine Terrada; Benedicte Neven; Nathalie Boddaert; Eric H Souied; Anne Marie Prieur; Pierre Quartier; Phuc Lehoang; Bahram Bodaghi
Journal:  J Ophthalmic Inflamm Infect       Date:  2011-04-09
  8 in total
  1 in total

1.  Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome.

Authors:  Toshihiko Matsuo; Masato Yashiro; Osamu Yamasaki; Takehiro Tanaka; Akira Manki
Journal:  Life (Basel)       Date:  2021-12-19
  1 in total

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