Hemolytic anemia in a child with myelodysplastic syndrome t(6;9)(p22;q34.1)/DEK-NUP214: A case report

Abstract

Background

Myelodysplastic syndrome (MDS) is a rare childhood syndrome that accounts for less than 5 % of all pediatric hematologic malignancies. MDS is associated with impaired hematopoiesis with resultant thrombocytopenia, cytopenia, and/or anemia. Work-up includes complete blood count, peripheral blood smear, bone marrow study, and cytogenetic studies. Hematopoietic stem cell transplantation is curative for most patients with MDS.

Case report

A 3-year-old female presented with three months of anemia and jaundice, and had positive cold agglutinin and a history of hemolytic anemia with no response to steroid and cyclosporine therapy. This prompted further investigation with bone marrow testing that eventually revealed t(6; 9)(p22; q34.1)/DEK-NUP214 with MDS.

Conclusion

This case highlights the diagnostic challenges of MDS in children and emphasizes the importance of considering MDS in the differential diagnosis of hemolytic anemia of unusual course. High clinical suspicion can prompt early diagnosis, which can potentially improve survival, and decrease morbidity and mortality.