P3.204: A Case of Progressive Weakness in a 7-Year-Old Male: Unraveling the Cause of Severe Anemia and Neutropenia

Introduction: Copper deficiency is a rare but serious condition, often resulting from excessive zinc intake, as zinc interferes with copper absorption. This case highlights the presentation of copper deficiency in a 7-year-old male with progressive weakness, severe anemia, neutropenia, and coronary artery aneurysms, all secondary to excessive zinc supplementation.

Case Description: A 7-year-old male presented with a 3-month history of progressive weakness, fatigue, and inability to perform daily activities. His medical history was unremarkable except for daily zinc supplementation. Physical examination revealed pallor, tachycardia, a flow murmur, mild abdominal distension, and marked fatigue. Laboratory findings showed severe anemia (Hb < 2 g/dL), leukopenia (WBC < 2,000 cells/μL), and severe neutropenia (ANC < 500 cells/μL), with normal platelet counts. Infectious workup, including tests for CMV, EBV, and other viruses, was negative, and Parvovirus B19 IgG suggested a past infection.

Imaging revealed heart enlargement, hepatomegaly, and bilateral pulmonary edema, which resolved with Lasix. Echocardiogram showed mild coronary artery aneurysms. Bone marrow biopsy findings were normal. Laboratory tests revealed elevated zinc (142.4 μg/dL) and low copper ( < 10 μg/dL), indicating copper deficiency secondary to excessive zinc supplementation.

The patient required multiple blood transfusions to stabilize his anemia. Copper supplementation was initiated, and zinc was discontinued. After one week, his blood counts normalized. A follow-up echocardiogram showed resolution of the coronary artery aneurysms, confirming copper deficiency caused by excessive zinc intake.

Discussion: Excessive zinc supplementation interferes with copper absorption, leading to copper deficiency, which in turn causes hematologic abnormalities (such as anemia and neutropenia), organomegaly, and vascular changes like coronary artery aneurysms. Copper plays a crucial role in collagen synthesis and connective tissue integrity, and its deficiency can impair vascular stability, as seen with the coronary aneurysms in this patient. The patient’s severe anemia and neutropenia improved after copper supplementation, confirming the diagnosis and illustrating the importance of copper in hematopoiesis and immune function. Coronary artery aneurysms, likely related to copper deficiency, showed resolution on follow-up, further supporting the diagnosis.

Conclusion: This case emphasizes the importance of recognizing copper deficiency as a potential consequence of excessive zinc supplementation. Clinicians should be aware of this condition, particularly in patients with unexplained hematologic and systemic symptoms. Early diagnosis and copper supplementation can lead to significant clinical improvement, as demonstrated in this patient.