Top

Published in:

01-01-2010 | Case Report

Post-inflammatory retinal dystrophy in CINCA syndrome

Authors: Donato Rigante, Achille Stabile, Angelo Minnella, Laura Avallone, Lucia Ziccardi, Giulia Bersani, Giovanna Stifano, Adele Compagnone, Benedetto Falsini

Published in: Rheumatology International | Issue 3/2010

Abstract

Right chorioretinitis and bilateral pseudopapilledema were firstly appreciated in a 9-month-old child with neonatal findings of aseptic chronic meningitis, framed in the context of CINCA syndrome at 1 year. Therapeutical response to various combinations of drugs was inconsistent until 7 years, when anakinra was started with immediate clinical and laboratory improvement. A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of 10 years, which remained stationary after 1 year of anakinra treatment.

Prieur AM, Griscelli C (1981) Arthropathy wih rash, chronic meningitis, eye lesions and mental retardation. J Pediatr 99:79–83. doi:10.1016/S0022-3476(81)80961-4 CrossRefPubMed

Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ et al (1987) A chronic infantile neurological cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol 66(Suppl):57–68. doi:10.3109/03009748709102523 CrossRef

Hashkes PJ, Lovell DJ (1997) Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr 130:513–515PubMed

Prieur AM (2001) A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 19:103–106PubMed

Torbiak RP, Dent PB, Cockshott WP (1989) NOMID: a neonatal syndrome of multisystem inflammation. Skeletal Radiol 18:359–364. doi:10.1007/BF00361425 CrossRefPubMed

Hashkes PJ, Lovell DJ (1997) Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr 130:513–515PubMed

Janssen R, Verhard E, Lankester A, Ten Cate R, van Dissel JT (2004) Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 50:3329–3333. doi:10.1002/art.20494 CrossRefPubMed

Caroli F, Pontillo A, D’Osualdo A, Travan L, Ceccherini I, Crovella S et al (2007) Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford) 46:473–478. doi:10.1093/rheumatology/kel269 CrossRef

Falsini B, Marangoni D, Salgarello T, Stifano G, Montrone L, Campagna F et al (2008) Structure–function relationship in ocular hypertension and glaucoma: interindividual and interocular analysis by OCT and pattern ERG. Graefes Arch Clin Exp Ophthalmol 246:1153–1162. doi:10.1007/s00417-008-0808-5 CrossRefPubMed

10.

Prieur AM, Griscelli C (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 99:79–83. doi:10.1016/S0022-3476(81)80961-4 CrossRefPubMed

11.

Brueton LA, Jadresic L, Savage MO, Sanderson IR, Haper JI, Ansell BM (1989) An infant with chronic articular and cutaneous manifestations: a new syndrome. J R Soc Med 82:223–225PubMed

12.

Miura M, Okabe T, Tsubata S, Takizava N, Sawaguci T (1997) Chronic infantile neurological cutaneous articular syndrome in a patient from Japan. Eur J Pediatr 156:624–626. doi:10.1007/s004310050678 CrossRefPubMed

13.

Sadiq SA, Gregson RMC, Dowenes RN (1996) The CINCA syndrome: a rare case of uveitis in childhood. J Pediatr Ophthalmol Strabismus 33:59–63PubMed

14.

De Cunto CL, Liberatore DI, SanRomàn JL, Goldberg JC, Morandi AA, Feldman G (1997) Infantile-onset multisystem inflammatory disease: a different diagnosis of systemic juvenile rheumatoid arthritis. J Pediatr 130:551–556. doi:10.1016/S0022-3476(97)70238-5 CrossRefPubMed

15.

Sadiq SA, Gregson RM, Dawnes RN (1996) The CINCA syndrome: a rare cause of uveitis in childhood. J Pediatr Ophthalmol Strabismus 33:59–63PubMed

16.

Dollfus H, Häfner R, Hofmann HM, Russo RA, Denda L, Gonzales LD et al (2000) Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome. Ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 118:1386–1392PubMed

17.

Stabile A, Avallone L, Compagnone A, Ansuini V, Bertoni B, Rigante D (2006) Focus on juvenile idiopathic arthritis according to the 2001 revised Edmonton classification from the International League of Associations for Rheumatology: an Italian experience. Eur Rev Med Pharmacol Sci 10:229–234PubMed

18.

Hannum CH, Wilcox CJ, Arend WP, Joslin FG, Dripps DJ, Heimdal PL et al (1990) Interleukin-1 receptor antagonist activity of a human interleukin-1 inhibitor. Nature 343:336–340. doi:10.1038/343336a0 CrossRefPubMed

19.

Teoh SC, Sharma S, Hogan A, Lee R, Ramanan AV, Dick AD (2007) Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. Br J Ophthalmol 91:263–264. doi:10.1136/bjo.2006.0101477 CrossRefPubMed

20.

Matsubayashi T, Sugiura H, Arai T, Oh-Ishi T, Inamo Y (2006) Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 9:246–249. doi:10.1080/08035250500341451 CrossRef

21.

Adán A, Solé M, Corcostegui B, Navarro R, Burés A (2007) Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. Br J Ophthalmol 91:121–122. doi:10.1136/bjo.2006.100552 CrossRefPubMed

22.

Russo RA, Katsicas MM (2001) Chronic infantile neurological cutaneous and articular syndrome: two new cases with rare manifestations. Acta Paediatr 90:1076–1079. doi:10.1080/080352501316978192 CrossRefPubMed

23.

Demmler GJ (1996) Congenital cytomegalovirus infection and disease. Adv Pediatr Infect Dis 11:135–162PubMed

24.

Boppana SB, Rivera LB, Fowler K (2001) Intrauterine transmission of cytomegalovirus to infants of women with preconceptional immunity. N Engl J Med 344:1366–1371. doi:10.1056/NEJM200105033441804 CrossRefPubMed

Title: Post-inflammatory retinal dystrophy in CINCA syndrome
Authors: Donato Rigante
Achille Stabile
Angelo Minnella
Laura Avallone
Lucia Ziccardi
Giulia Bersani
Giovanna Stifano
Adele Compagnone
Benedetto Falsini
Publication date: 01-01-2010
Publisher: Springer-Verlag
Published in: Rheumatology International / Issue 3/2010
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-009-0939-y

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Post-inflammatory retinal dystrophy in CINCA syndrome

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2010

Anti-inflammatory mechanism of tocilizumab, a humanized anti-IL-6R antibody: effect on the expression of chemokine and adhesion molecule

The relation between osteoporosis and vitamin D levels and disease activity in ankylosing spondylitis

Lack of biochemical hypogonadism in elderly Arab males with low bone mineral density disease

Evidences of rheumatic disorders and orthopedic practices in Moche art

Abnormal high-expression of CD154 on T lymphocytes of ankylosing spondylitis patients is down-regulated by etanercept treatment

Ankylosing spondylitis with mycetoma case treated with oral itraconazole

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page