Severe Hyperuricemia as a Presenting Feature of Megaloblastic Anemia

Abstract

Hyperuricemia is commonly associated with hematological malignancies and high cell-turnover states. In megaloblastic anemia, ineffective erythropoiesis can increase purine breakdown, but severe hyperuricemia as an initial presentation—especially in children—is rare and may mimic malignancy. A 10-year-old girl with Down syndrome presented with failure to thrive, severe pancytopenia, hepatosplenomegaly, and marked hyperuricemia, raising strong suspicion of acute leukemia. Bone marrow examination revealed megaloblastic hematopoiesis without excess blasts. Treatment with vitamin B12 and folate led to rapid hematological recovery and normalization of uric acid levels. Megaloblastic anemia should be considered in children presenting with severe hyperuricemia and cytopenias, even when malignancy is suspected. Early diagnosis allows prompt, curative therapy and avoids unnecessary aggressive interventions.