THE PRESENTATION OF ALL IN A CHILD WITH DOWN SYNDROME: A CASE PRESENTATION

Purpose: Through case presentation, we emphasize the need to consider the possibility of leukemia when a child presents with severe bone and joint pain. We describe the case of a 4-year-old child with Down syndrome diagnosed with acute lymphoblastic leukemia (ALL), whose main presenting symptoms were bone/joint pain and fever of 5 weeks duration. She was initially diagnosed with osteomyelitis of her left clavicle, which was found to be benign after incision and drainage and surgical biopsy. After an adverse reaction to her antibiotics, she was diagnosed with serum sickness and was given a 5 day course of prednisolone after a fairly benign workup. After referral to a rheumatology clinic with complaints of persistent bone and joint pain, she was finally diagnosed with ALL after finding an elevated LDH and leukemia blast cells appearing on blood smear. Methods: We describe a patient case presentation, including chief complaints, physical exam, lab results/procedures, and diagnosis. In addition, we review research describing ALL presenting primarily with musculoskeletal symptoms, and the characteristics of acute leukemia in patients with Down syndrome Results: In a study of 296 patients reviewed over a 13 year period, it was found that 18% of patients with ALL presented primarily with bone pain. Many had near normal lab values which ultimately delayed their diagnosis of ALL by 2 weeks on average. It is well documented that children with Down syndrome have a 10-20 fold increased risk of ALL when compared to non-Down syndrome children. In this population, ALL is associated with an increased morbidity and mortality. Conclusions: Patients with ALL may present with bone and joint pain and often experience delays in diagnosis. Children with Down syndrome are at higher risk of developing ALL, and this possibility must always be considered in the presence of an otherwise unexplained illness.