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Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis
Author(s) -
Kostik Mikhail M.,
Chikova Irina A.,
Avramenko Vladislav V.,
Vasyakina Laly I.,
Le Trionnaire Emmanuelle,
Chasnyk Vyacheslav G.,
Levade Thierry
Publication year - 2013
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-012-9573-z
Subject(s) - polyarthritis , medicine , arthritis , juvenile rheumatoid arthritis , juvenile , oligoarthritis , differential diagnosis , pathology , rheumatology , immunology , dermatology , genetics , biology
Abstract The case of a 10‐year‐old boy with Farber lipogranulomatosis with predominant joint involvement, subacute, laryngeal and tongue granulomas, microcytic anemia, elevated ESR and CRP, is presented. The boy had no signs of CNS and internal organ involvement. The disease manifested at 6 months; at 11 months the boy had widespread granulomatous polyarthritis with contractures, and juvenile idiopathic arthritis (JIA) was suggested. All antirheumatic therapies failed. Immunologic assessment revealed elevated serum interleukin‐1β, increased T‐helper, NK and CD25‐positive cells, and circulating immune complexes. Our case with predominant rheumatologic manifestations illustrates a differential diagnosis of JIA.