INFLAMMATORY ARTHROPATHIES IN CHILDREN WITH CHROMOSOMAL-ABNORMALITIES

There are few observations of inflammatory synovitis in association wi th specific chromosomal abnormalities in children or adults. We review the genetic and rheumatic disease literature and describe the clinica l, radiologic and pathologic features of a 14-year-old boy with trisom y 5q, terminal 2p deletion, developmental delay, and a 5-year course o f a polyarticular, symmetrical arthropathy similar to juvenile rheumat oid arthritis. He was treated with multiple nonsteroidal antiinflammat ory drugs, intramuscular gold, and oral methotrexate, but developed ir idocyclitis, joint space narrowing with erosions, and multiple flexion contractures; disease progression slowed after addition of chlorambuc il. The frequency and manner of association of genetic disorders with inflammatory arthropathies is presently unknown. Additionally, childre n with 2 major disabilities often require aggressive medical intervent ion to maximize their potential for adult independence.