Conclusion
Our patient exemplifies the potential delay in identifying copper deficiency as an etiology for pancytopenia. Copper deficiency should be a consideration in the initial evaluation of children with restricted diets or concerns for malabsorption. Low levels of serum copper and ceruloplasmin are uniformly seen in all patients and essential to establish the diagnosis. Patient with copper deficiency could be misdiagnosed or mistaken for MDS and some patients identified only when referred for hematopoietic stem cell transplant. Enteral copper supplementation is feasible and effective in addressing these cytopenias, eliminating the need for transfusion support as well as improving patients’ quality of life and neurological function.
Conflict of Interest: Author has no conflicts of interest to disclose.