February 2018 — Laboratory Genetics

​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
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

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