A Rare Case of Severe Copper Deficiency in an Infant with Exclusive Breast Feeding Mimicking Myelodysplastic Syndrome

Abstract

An 11-month-old full-term female infant was referred to the hematology clinic due to marked anemia and neutropenia. She was almost exclusively breastfed and rejecting all trials for supplementary food including artificial formulas. Bone marrow aspirate revealed cytoplasmic vacuolization in precursors of the myeloid and erythroid series with significant dysgranulopoiesis and dyserythropoiesis and ringed sideroblasts. Flow cytometry analysis revealed increased hematogones with aberrant loss/downregulation of CD33 on granulocytes and monocytes (sign of dysmyelopoiesis). Laboratory investigation revealed low serum copper and ceruloplasmin. Administration of a multivitamin including a high concentration of copper for only 1 week improved her hemoglobin and absolute neutrophil count up to 1.9 × 103/µL, then dropped to 0.3 103/µL after she stopped taking the copper multivitamin. Her blood counts improved till total normalization and up to the time this report is issued. The probable role of unrecognized copper deficiency in causing anemia in infants more than 6 months of age is discussed, and the importance of serum copper examination in refractory anemia and neutropenia is emphasized. This case shows that copper deficiency should be an integral part of the differential diagnosis of refractory anemia including sideroblastic anemia and dysplasia. To the best of our knowledge, no such case has previously been described in the literature.

Keywords: Anemia; Breast feeding; Copper deficiency; Myelodysplastic syndrome; Ringed sideroblasts.

Fig. 1

Peripheral blood smear shows macrocytic anemia with a dimorphic picture (RBC morphologic features are evident with a population of microcytic/hypochromic erythrocytes), polychromasia, marked neutropenia and marked thrombocytosis (Wright-Giem­sa. ×500).

Fig. 2

Bone marrow aspirate. A Increased megakaryocytes with cluster formation and large pool of platelets (Wright-Giemsa. ×200). B Small and hypolobated megakaryocytes (Wright-Giemsa. ×1,000).

Fig. 3

Bone marrow morphologic changes in copper deficiency. A Prominent cytoplasmic vacuolization in granulocytic precursors, eosinophils and in early erythroid precursors, left-shifted granulopoiesis with little maturation beyond the myelocyte stage, significant dysgranulopoietic features (hypo/non-segmentation and abnormal segmentation) (Wright-Giemsa. ×500). B Increased erythropoiesis with dyserythropoietic features (megaloblastoid changes, karyorrhexis, budding, binuclearity, internuclear bridging) (Wright-Giemsa. ×500).

Fig. 4

Iron stain (composite) increased sideroblasts and ringed sideroblasts 9% (Prussian blue. ×1,000).