Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal recessive, non-inflammatory arthropathy caused by loss-of-function mutations in WNT-1 inducible signaling pathway protein 3 (WISP3). Here, we report a case of PPRD mimicking juvenile idiopathic arthritis (JIA) with a novel compound heterozygous mutation. A 13-year-old girl presented to our department with a 7-year history of enlargement of her distal interphalangeal, proximal interphalangeal joints (Figure 1A) and knees (Figure 1B). She developed progressive gait anomalies, fatigability, symmetrical stiffness in wrists, knees and hips, while had neither hearing impairment nor any history of bone fracture. Before this admission, she had been diagnosed with JIA with polyarticular involvement and been treated with infliximab for 3 months, but her symptoms persisted. The patient was born to non-consanguineous parents with normal stature, and her sexual and intelligence development were normal. On examination, her height was 130 cm (less than the third percentile), and no skin rash was observed.
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