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A rare case of pancytopenia in a child with cystic fibrosis: Can copper cure it all?
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  • Maggie Seblani,
  • Susanna McColley,
  • Shawn Gong,
  • Lee Bass,
  • Sherif Badawy
Maggie Seblani
Ann and Robert H Lurie Children's Hospital of Chicago
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Susanna McColley
Ann and Robert H Lurie Children's Hospital of Chicago
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Shawn Gong
Ann and Robert H Lurie Children's Hospital of Chicago
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Lee Bass
Northwestern University Feinberg School of Medicine
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Sherif Badawy
Ann and Robert H Lurie Children's Hospital of Chicago
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Abstract

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.

Peer review status:ACCEPTED

22 Jun 2021Submitted to Pediatric Pulmonology
23 Jun 2021Submission Checks Completed
23 Jun 2021Assigned to Editor
24 Jun 2021Reviewer(s) Assigned
14 Jul 2021Review(s) Completed, Editorial Evaluation Pending
14 Jul 2021Editorial Decision: Revise Minor
22 Aug 20211st Revision Received
23 Aug 2021Submission Checks Completed
23 Aug 2021Assigned to Editor
23 Aug 2021Reviewer(s) Assigned
08 Sep 2021Review(s) Completed, Editorial Evaluation Pending
08 Sep 2021Editorial Decision: Accept