title: Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis.
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.
authors.affiliation: Rheumatology Unit, Department of Paediatrics, Anna Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy. achillemarino6@gmail.com.
authors.forename: Marino
authors.initials: M
authors.lastname: Achille
authors.affiliation: Rheumatology Unit, Department of Paediatrics, Anna Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Pagnini
authors.initials: P
authors.lastname: Ilaria
authors.affiliation: Rheumatology Unit, Department of Paediatrics, Anna Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Giani
authors.initials: G
authors.lastname: Teresa
authors.affiliation: Ophthalmology Unit, Department of Pediatrics, Anna Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Caputo
authors.initials: C
authors.lastname: Roberto
authors.affiliation: Ophthalmology Department, Polytechnic University of Marche, Ancona, Italy.
authors.forename: Arapi
authors.initials: A
authors.lastname: Ilir
authors.affiliation: Ophthalmology Department, Polytechnic University of Marche, Ancona, Italy.
authors.forename: Neri
authors.initials: N
authors.lastname: Piergiorgio
authors.affiliation: Rheumatology Unit, Department of Paediatrics, Anna Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Cimaz
authors.initials: C
authors.lastname: Rolando
authors.affiliation: Rheumatology Unit, Department of Paediatrics, Anna Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Simonini
authors.initials: S
authors.lastname: Gabriele
mesh_terms: D000068879:Adalimumab / Q000627:therapeutic use*; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D001168:Arthritis; D002648:Child; D002833:Choroiditis / Q000188:drug therapy*; D005260:Female; D006801:Humans; D015864:Panuveitis / Q000188:drug therapy*; D012507:Sarcoidosis / Q000150:complications*; D013585:Synovitis; D016896:Treatment Outcome; D014605:Uveitis; D056660:Hereditary Autoinflammatory Diseases
chemical_list: D000893:Anti-Inflammatory Agents; D000068879:Adalimumab
keywords: Adalimumab; Blau syndrome; NOD2; Sarcoidosis; Uveitis