CINCA syndrome (chronic infantile neurological cutaneous articular syndrome). A case report of a superficial resemblance to systemic-onset JRA with mutation in CIAS 1 gene from Thailand - 25/08/11
Abstract |
Rationale |
To report a rare inflammatory pediatric disease from Thailand. Nowaday, genes involved in recurrent inflammatory syndromes have been localized and identified, included of CIAS1 gene.
Method |
The diagnosis was made by clinical syndrome and the DNA testing of CIAS1 gene was performed by PCR technic.
Result |
It exhibits a typical triad: generalized urticaria and maculopapular rash was present at birth, central nervous system involvement with chronic meningitis and joint manifestations in the first year of life. Relevant laboratory findings included mild leukocytosis, iron resistants hypochromic anemia of chronic disease, elevated ESR and no detectable autoimmune profile. Radiograph revealed abnormalities of metaphysis of both distal femurs. MRI brain showed chronic subdural collection. The DNA testing revealed missense of CIAS1 gene, exon 3 of chromosome 1q44. Disease was characterized by high spiking fever and permanent rash, failure to thrive, progressive arthropathy and bony appearance with partial response to NSAID ans steroid.
Conclusion |
A syndrome of neonatal onset can be recognized.
Le texte complet de cet article est disponible en PDF. | Funding: Self-funded |
Vol 113 - N° 2S
P. S132 - février 2004 Retour au numéro
Article précédent
- Anti-C1q-autoantibodies in SLE patients
- I.A. Perahud, I.P. Titova, S.V. Hidchenko, J.A. Schifferli, S. Sadallah, L.P. Titov, L.M. DuBuske
- Monoclonal gammopathy (MG) in patients with angioedema, urticaria, respiratory allergies, and other dermatologic manifestations
- M.J. Ku, B.A. Silverman, P. Kapur, A.T. Schneider
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