Management of Aplastic Anaemia in a 15-year Old Boy with Down Syndrome in a Low Resource Setting

Abstract

We present a case report of idiopathic aplastic anaemia (AA) in a 15-year old Sudanese boy with Down syndrome (47XY, 21+ in all metaphases). AA is rare in Down syndrome with 10 cases published in the literature. The patient presented with a history of mouth mucosal bleeding, pallor and fever. His full blood count (FBC) showed pancytopenia and a bone marrow biopsy confirmed the finding of a hypocellular bone marrow. A diagnosis of AA in this child with Down syndrome was made based on the presentation and investigations. Other differentials were considered and excluded. He was treated with regular packed red blood cell and platelet transfusions because of the lack of facilities for bone marrow transplant (BMT). He was started on Deferasirox (Exjade) for high serum ferritin. He passed away four weeks after starting Exjade with severe sepsis. The rationale for reporting this case is to highlight AA in the differential diagnosis of anemia in a child with Down’s syndrome and to describe the restricted options available in a resource-poor setting. It also highlights the possible role of Deferasirox (Exjade) for treatment of pancytopenia in AA.