Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia |
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| Authors: | Nasir A. Bakshi Talal Al‐Anzi Said Y. Mohamed Zuhair Rahbeeni Moeen AlSayed Mohammed Al‐Owain Raashda A. Sulaiman |
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| Affiliation: | 1. Section of Hematopathology, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;2. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;3. Department of Hematology and Bone Marrow Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;4. College of Medicine, Alfaisal University, Riyadh, Saudi Arabia |
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| Abstract: | Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts. We discuss their management and outcome. This report emphasizes the need for bone marrow examination in these patients with refractory or unexplained severe cytopenia, to confirm bone marrow pathology, and to rule out other diseases with similar clinical presentation for a better clinical outcome. |
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| Keywords: | hemophagocytosis methylmalonic acidemia myelodysplasia |
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