Title: Farber Disease - A Case Report
Authors: Dr Sunil Kumar Agarwalla, Dr Laxmipriya Tudu
DOI: https://dx.doi.org/10.18535/jmscr/v8i12.42
Abstract
Farber Disease is a rare autosomal recessive disorder that results from the deficiency of the lysosomal enzyme acid ceramidase leading to accumulation of ceramide in various tissues especially joints. Symptoms may begin in the 1st year of life with painful joint swelling and nodule formation, which is sometimes diagnosed as polyarticular JIA. We report a case of 3month old male baby presented to us with painful swelling of multiple joints and contractures since birth. For rarity of the case and to create awareness among the physician regarding this JIA mimic condition.
Keywords: Farber disease, Ceramidase, joint swelling, JIA.
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