Lidia Cocho1,2, Elena Urbaneja3, José M Herreras4,3. 1. IOBA (Institute of Applied OphthalmoBiology), University of Valladolid, Paseo de Belén 17, 47011, Valladolid, Spain. lidiacocho@hotmail.com. 2. Hospital Clínico Universitario de Valladolid, Avda Ramón y Cajal 3, 47003, Valladolid, Spain. lidiacocho@hotmail.com. 3. Hospital Clínico Universitario de Valladolid, Avda Ramón y Cajal 3, 47003, Valladolid, Spain. 4. IOBA (Institute of Applied OphthalmoBiology), University of Valladolid, Paseo de Belén 17, 47011, Valladolid, Spain.
Abstract
PURPOSE: To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis. METHODS: Case report and review of the literature. RESULTS: A 7-year-old boy presented with an active bilateral panuveitis and a macular rash associated with fever. Fundus examination showed two choroidal lesions on the posterior pole of the right eye, and fluorescein angiography revealed early hypofluorescence and late hyperfluorescence of the lesions, which were hyper-autofluorescent. Extensive clinical laboratory analyses ruled out autoimmune diseases and systemic infection. The only remarkable finding was a positive IgG for herpes simplex 1. He underwent two successive diagnostic pars plana vitrectomies as well as cataract and glaucoma surgeries. Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis. He was treated with adalimumab and has been free of active inflammation since then. CONCLUSIONS: We present here the first case reported of panuveitis in a patient with TRAPS. This finding stresses the increasing importance of genetic analysis in search of autoinflammatory diseases to establish an adequate diagnosis and treatment in cases of uveitis of unknown etiology.
PURPOSE: To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis. METHODS: Case report and review of the literature. RESULTS: A 7-year-old boy presented with an active bilateral panuveitis and a macular rash associated with fever. Fundus examination showed two choroidal lesions on the posterior pole of the right eye, and fluorescein angiography revealed early hypofluorescence and late hyperfluorescence of the lesions, which were hyper-autofluorescent. Extensive clinical laboratory analyses ruled out autoimmune diseases and systemic infection. The only remarkable finding was a positive IgG for herpes simplex 1. He underwent two successive diagnostic pars plana vitrectomies as well as cataract and glaucoma surgeries. Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis. He was treated with adalimumab and has been free of active inflammation since then. CONCLUSIONS: We present here the first case reported of panuveitis in a patient with TRAPS. This finding stresses the increasing importance of genetic analysis in search of autoinflammatory diseases to establish an adequate diagnosis and treatment in cases of uveitis of unknown etiology.
Authors: M F McDermott; I Aksentijevich; J Galon; E M McDermott; B W Ogunkolade; M Centola; E Mansfield; M Gadina; L Karenko; T Pettersson; J McCarthy; D M Frucht; M Aringer; Y Torosyan; A M Teppo; M Wilson; H M Karaarslan; Y Wan; I Todd; G Wood; R Schlimgen; T R Kumarajeewa; S M Cooper; J P Vella; C I Amos; J Mulley; K A Quane; M G Molloy; A Ranki; R J Powell; G A Hitman; J J O'Shea; D L Kastner Journal: Cell Date: 1999-04-02 Impact factor: 41.582
Authors: N Ravet; S Rouaghe; C Dodé; J Bienvenu; J Stirnemann; P Lévy; M Delpech; G Grateau Journal: Ann Rheum Dis Date: 2006-03-28 Impact factor: 19.103
Authors: Keith M Hull; Elizabeth Drewe; Ivona Aksentijevich; Harjot K Singh; Kondi Wong; Elizabeth M McDermott; Jane Dean; Richard J Powell; Daniel L Kastner Journal: Medicine (Baltimore) Date: 2002-09 Impact factor: 1.889
Authors: Ebun Aganna; Linda Hammond; Philip N Hawkins; Anna Aldea; Shane A McKee; Hans Kristian Ploos van Amstel; Claudia Mischung; Koichi Kusuhara; Frank T Saulsbury; Helen J Lachmann; Alison Bybee; Elizabeth M McDermott; Micaela La Regina; Juan I Arostegui; Josep M Campistol; Sharron Worthington; Kevin P High; Michael G Molloy; Nicholas Baker; Jeff L Bidwell; José L Castañer; Margo L Whiteford; P L Janssens-Korpola; Raffaele Manna; Richard J Powell; Patricia Woo; Pilar Solis; Kirsten Minden; Joost Frenkel; Jordi Yagüe; Rita M Mirakian; Graham A Hitman; Michael F McDermott Journal: Arthritis Rheum Date: 2003-09
Authors: H J Lachmann; R Papa; K Gerhold; L Obici; I Touitou; L Cantarini; J Frenkel; J Anton; I Kone-Paut; M Cattalini; B Bader-Meunier; A Insalaco; V Hentgen; R Merino; C Modesto; N Toplak; R Berendes; S Ozen; R Cimaz; A Jansson; P A Brogan; P N Hawkins; N Ruperto; A Martini; P Woo; M Gattorno Journal: Ann Rheum Dis Date: 2013-08-21 Impact factor: 19.103