Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis.

Autor: Kostik MM; Hospital Pediatric Department, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint-Petersburg, Russia, 194100, kost-mikhail@yandex.ru., Chikova IA, Avramenko VV, Vasyakina LI, Le Trionnaire E, Chasnyk VG, Levade T
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2013 Nov; Vol. 36 (6), pp. 1079-80. Date of Electronic Publication: 2013 Feb 06.
DOI: 10.1007/s10545-012-9573-z
Abstrakt: 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.
Databáze: MEDLINE