Nutritional deficiencies such as iron, vitamin B12 and folate are recognized as etiologies for several cytopenias; although copper’s role in multiple metabolic enzymes is well-established, copper deficiency is often overlooked as a contributing entity. Frequently diagnosis is delayed, patients may undergo bone marrow investigations with findings overlapping a myelodysplastic process, which can lead to further testing and treatment considerations including hematopoietic stem cell transplant referral. We present a case of a young boy with cystic fibrosis with biliary dysplasia corrected with hepato-portoenterostomy and distal intestinal obstruction syndrome resulting in jejunal resection, with severe anemia and thrombocytopenia requiring transfusion support. Initial evaluation had been unremarkable, ongoing pancytopenia prompted bone marrow studies, which revealed vacuolated granulocytic and erythroid precursors and ring sideroblasts, suggestive of copper deficiency. Serum copper and ceruloplasmin were consistent with severe deficiency, attributed to insufficient absorption intestinal resection, chronic parenteral nutrition and prior zinc supplementation. Following enteral copper supplementation, anemia, leukopenia and thrombocytopenia significantly improved, however upon cessation, counts again worsened and has since been maintained on daily copper supplementation without further transfusion needs. Our experience exemplifies the importance of early consideration for copper deficiency in children with cytopenias, especially within context of intestinal malabsorption or inadequate nutritional intake which often occurs in children with cystic fibrosis.

Title PageTitle : Pancytopenia in a child with cystic fibrosis and severe copper deficiency: Insight from bone marrow evaluationAuthors : Maggie D. Seblani1,2; Susanna A. McColley2,3,4; Shunyou Gong5; Lee M. Bass2,6; Sherif M. Badawy1,2Affiliations : 1 Division of Hematology, Oncology and Stem Cell Transplant, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA; 2 Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; 3 Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA; 4 Stanley Manne Children’s Research Institute, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA; 5 Division of Pediatric Pathology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL; 6 Division of Gastroenterology, Hepatology and Nutrition, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL.Correspondence: Sherif M. Badawy, MD, MS, MBBCh, 225 E. Chicago Ave., Box #30, Chicago, IL, 60611, office: 312-227-4836, fax: 312-227-9376, e-mail: sbadawy@luriechildrens.orgWord count: 498Number of Tables, Figures, and Supplemental files : 1Running title: Bone marrow findings with severe copper deficiencyKeywords: pancytopenia, anemia, leucopenia, neutropenia, thrombocytopenia, copper deficiency, ring sideroblasts, copper supplement, cystic fibrosis, malabsorptionConflict of Interest: Author has no conflicts of interest to disclose.