Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease (8q2 1) from the family of the genetically determined chromosomal instability sy ndromes. The disorder is characterized by microcephaly, growth retardation, immunodeficiency, and high incidence of cancer. Several noninflammatory an omalies of the musculoskeletal system have been described in patients with this syndrome. We describe an Argentinian girl with all the clinical. immun ological, and cytogenic characteristics described for NBS plus a juvenile r heumatoid arthritis-like syndrome. To our knowledge this is the first repor t of a patient with the NBS who presented with a symmetric chronic polyarth ritis resembling JRA.