Inflammatory arthropathies in children with chromosomal abnormalities

There are few observations of inflammatory synovitis in association with specific chromosomal abnormalities in children or adults. We review the genetic and rheumatic disease literature and describe the clinical, radiologic and pathologic features of a 14-year-old boy with trisomy 5q, terminal 2p deletion, developmental delay, and a 5-year course of a polyarticular, symmetrical arthropathy similar to juvenile rheumatoid arthritis. He was treated with multiple nonsteroidal antiinflammatory drugs, intramuscular gold, and oral methotrexate, but developed iridocyclitis, joint space narrowing with erosions, and multiple flexion contractures; disease progression slowed after addition of chlorambucil. The frequency and manner of association of genetic disorders with inflammatory arthropathies is presently unknown. Additionally, children with 2 major disabilities often require aggressive medical intervention to maximize their potential for adult independence.