Sarcoïdose à début précoce, difficultés diagnostiques en pédiatrie

Abstract

Sarcoidosis, a chronic multisystem inflammatory granulomatous disorder of unknown origin, is a rare disease in children. Two distinct clinical presentations of sarcoidosis in childhood are known. Older children usually show multisystem disease, close to the adult manifestation, with lung infiltration and frequent hilar lymphadenopathy. Prior to the age of 5, sarcoidosis reveals more frequently with the classical triad of rash, arthritis, and uveitis. Due to non-specific clinical features and the lack of a specific test, recognizing sarcoidosis can be difficult in the pediatric population. Moreover, unlike in adults, lung involvement is rare in pediatric sarcoidosis. Given the lack of a definitive blood test, the World Association of Sarcoidosis and Other Granulomatous disorders (WASOG) only recommends dosing the serum angiotensin-converting enzyme (ACE). Its level is usually higher in children than in adults, but an increased ACE may help in the diagnosis. The gold standard is a biopsy specimen with typical epithelioid gigantocellular granuloma without caseating necrosis granuloma, after other disorders known to cause granulomatous disease have been reasonably excluded. We report here the case of a 4.5-year-old male with the history of polyarthritis and uveitis, considered first as juvenile rheumatoid arthritis, followed 5 years later by cutaneous involvement, which led to reconsidering the diagnosis. There were no pulmonary clinical findings. Histology provided the diagnosis of sarcoidosis. He then developed dependence on steroids. The lack of the classical triad delayed the diagnosis several years. This case shows the pediatric singularity of sarcoidosis, which needs to be known so that early and appropriate follow-up can be conducted.