Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report

Folate deficiency is common and often asymptomatic, but severe cases can cause megaloblastic anemia. Rarely, it presents with pancytopenia and bone marrow changes resembling myelodysplastic syndrome/neoplasm (MDS) and/or acute myeloid leukemia (AML), complicating diagnosis and management. We present a case of a patient with severe folate deficiency, in the setting of normal vitamin B12 levels, who presented with hematologic and bone marrow findings initially suggestive of MDS/AML that resolved with folate supplementation. This case highlights that the clinical and morphologic findings associated with severe folate deficiency can closely resemble those of high-risk MDS or MDS/AML. Careful diagnostic evaluation, including nutritional assessment, is essential to avoid the misclassification of reversible nutritional deficiencies as myeloid neoplasms requiring cytotoxic therapy.