Abstract:
:Early-onset sarcoidosis (EOS) and Blau syndrome are rare auto-inflammatory diseases characterized by a triad of skin rash, granulomatous uveitis, and symmetrical polyarthritis occurring in early childhood. In this paper, we describe a case report very interesting for the multidisciplinary management (pediatric rheumatologist and ophthalmologist), the challenging diagnosis and the difficult choice of the best treatment. We describe a case report of an 8-year old with recurrent episodes of acute uveitis that developed bilateral granulomatous panuveitis initially treated with topical and systemic steroids. Genetic testing for NOD2/CARD15 revealed a heterozygous mutation on exon 4 in the NBD domain (P268S/SNP5). Therefore, an incomplete EOS was suspected. Because uveitis worsening with multifocal chorioretinitis aggravation, intravenous boluses of methylprednisolone were administered. During the steroids tapering, she flared again, and methotrexate was started along with corticosteroids pulse therapy. However, new ocular granuloma appeared, macular oedema with poor visual outcome occurred, and therefore, adalimumab was added to MTX and steroids. After 6 months since the new therapy started, she had a complete visual recovery, and she was able to stop steroid treatment. At 2 years of follow-up, she is still in remission on treatment, and her visual acuity is normal. No side effects were observed. In our patient, we found a heterozygous mutation on exon 4 in the NBD domain (P268S/SNP5) of NOD2/CARD15 gene and an incomplete EOS was hypothesized. The role of this variant is currently under study. Adalimumab use dramatically changed the course of eye disease, prompting to stop steroid treatment and preserving visual acuity.
journal_name
Int Ophthalmoljournal_title
International ophthalmologyauthors
Achille M,Ilaria P,Teresa G,Roberto C,Ilir A,Piergiorgio N,Rolando C,Gabriele Sdoi
10.1007/s10792-015-0135-xsubject
Has Abstractpub_date
2016-02-01 00:00:00pages
129-135issue
1eissn
0165-5701issn
1573-2630pii
10.1007/s10792-015-0135-xjournal_volume
36pub_type
杂志文章abstract::Infrequently, vitreomacular traction is released through the spontaneous development of complete posterior vitreous detachment (PVD). PVD caused by laser photocoagulation has also been reported. A 62-year-old woman with ischemic branch retinal vein occlusion showed decreased vision in the affected eye due to vitreomac...
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pub_type: 杂志文章,随机对照试验
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更新日期:2017-04-01 00:00:00
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doi:10.1023/a:1014406831412
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,多中心研究
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