A rare case of pancytopenia in a child with cystic fibrosis: Can copper cure it all?

Abstract

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