Pure Red Cell Aplasia in a Patient with Cri-Du-Chat

Abstract

Background: The Cri-Du-Chat syndrome also known as 5p- syndrome is a rare genetic autosomal disorder with the characteristic deletion of the short arm (p) of chromosome 5.  To date, hematologic manifestations characteristic of BM failure have not been linked to this syndrome.  Aims: To evaluate the safety and efficacy of cyclosporine to treat pure red cell aplasia in the clinical setting of 5p- syndrome.  Presentation of Case: We report here a patient with 5p- syndrome who subsequently developed idiopathic pure red cell aplasia. He was treated with cyclosporine 1mg/kg twice a day, and achieved a complete remission, with no toxicities.  Conclusion: This case suggests that cyclosporine can be used safely and effectively in such clinical scenario.