A six-year-old boy presented with fever and bone pain. He was found to have thrombocytopenia, anemia, and splenomegaly. MRI showed bone marrow abnormality. A hematologic malignancy was suspected. He had a bone marrow biopsy, which showed foamy histiocytes, consistent with Gaucher disease.
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Erin Conboy, M.D. Fellow, Clinical Biochemical Genetics Mayo Clinic |
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Silvia Tortorelli, M.D., Ph.D. Consultant, Division of Laboratory Genetics and Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |