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.
|Erin Conboy, M.D.
Fellow, Clinical Biochemical Genetics
|Silvia Tortorelli, M.D., Ph.D.
Consultant, Division of Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine