title: In search of a disease.
abstract: A 10-year-old child presented with right eyelid swelling and a palpable orbital mass. Diagnostic evaluation with the aid of excisional biopsy revealed a pseudoencapsulated mass associated with high levels of serum perinuclear antineutrophil cytoplasmic antibodies. Family history of rheumatic diseases, response to treatment with corticosteroids and immunosuppressant drugs, and clinical and histopathologic features suggested an orbital autoimmune response in which perinuclear antineutrophil cytoplasmic antibodies were detected, and a diagnosis of probable IgG4-related disease was made.
authors.affiliation: Institute of Ophthalmology, Head and Neck Surgery, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: gustavo.savino@unicatt.it.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Savino Md
authors.affiliation: Department of Pediatrics, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Campana Md
authors.affiliation: Institute of Pathology, Università Cattolica del Sacro Cuore, Rome, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Petrone Md
authors.affiliation: Institute of Ophthalmology, Head and Neck Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Grimaldi Md
authors.affiliation: Skull base division, Neuro-Ophthalmology Service, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
authors.forename: Ann P
authors.initials: AP
authors.lastname: Murchison
mesh_terms: D019268:Antibodies, Antineutrophil Cytoplasmic / Q000276:immunology*; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000276:immunology; D001706:Biopsy / Q000379:methods; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007070:Immunoglobulin A / Q000276:immunology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D016727:Orbital Pseudotumor / Q000175:diagnosis* / Q000276:immunology; D014057:Tomography, X-Ray Computed / Q000379:methods*
chemical_list: D019268:Antibodies, Antineutrophil Cytoplasmic; D007070:Immunoglobulin A
keywords: intravenous steroids; orbital IgG4-related disease; pediatric orbital inflammatory disease; perinuclear antineutrophil cytoplasmic antibodies (p-ANCA); subcutaneous methotrexate