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.