Page 189 - Haematologica Atlas of Hematologic Cytology

CHAPTER 19 - Congenital sideroblastic anemias
Figure Pearson syndrome Peripheral blood smear from a a a young child presenting transfu- sion-dependent macrocytic anemia reticulocyto- penia penia mild thrombocytopenia and developmen- tal delay An increase in in lactates and pancreatic exocrine dysfunction with chronic diarrhea and malabsorption were also found Note moderate anisopoikilocytosis of red cells with macrocyto- sis Figure Pearson syndrome Bone marrow smear from the same case as as Figure 2 shows hypercellu- larity and vacuolization of hematopoietic precur- sors These morphological findings in in in association with the the peculiar clinical features suggested the the diagnosis of Pearson marrow pancreas syndro- me which is is a a a very rare mitochondrial disorder characterized by an inherited bone marrow fai- lure syndrome with vacuolization in myeloid and erythroid progenitors exocrine pancreatic dy- sfunction and lactic acidosis Figure 4 Pearson syndrome Bone marrow sme- ar from the same case as as Figures 2 and 3 Perls staining reveals many ring sideroblasts with very numerous perinuclear granules and also several siderocytes confirming the suspected diagnosis The presence of ring sideroblasts is a a a bone mar- row feature typical of Pearson syndrome Mito- chondrial DNA testing showed a a a large deletion of mitochondrial DNA in peripheral blood cells Mi- tochondrial cytopathies are heterogeneous disor- ders characterized by high variability in in clinical manifestations Patients with Pearson syndrome usually show clinical features similar to those ob- served in other mitochondrial disorders with the the addition of of the finding of of congenital sideroblastic anemia (Farruggia et al 2018) 176