Diamond Blackfan Syndrome in a Nigerian Child.

Abstract

We report the case of a 21-month-old girl with a rare congenital anaemia. Born on July 8, 2005, BE was first seen with severe anaemia necessitating blood transfusion at the age of eight weeks. The anaemia recurred with subsequent transfusions within three months of the first transfusion. She was eventually referred to the paediatric haematologyunit when she was five months old. At presentation, her packed cell volume was 10 percent. Peripheral blood film revealed normal white cell and platelet counts and macrocytosis, but the reticulocyte count was low. Bone marrow aspiration and biopsy showed paucity of red cell precursors with normal włute cell precursors and megakaryocytes. Serum electrolytes, urea and creatinine levels were normal. A diagnosis of Diamond Blackfan syndrome was made with a differential of transient erythroblastopaenia of childhood. She received transfusion of packed red cells. Thereafter, prednisolone at a dose of 2mg/kg/day in three divided doses, was commenced. From then on, she maintained a packed cell volume of between 32 and 37 percent until two months after the comniencement of steroid when, in an attempt to reduce the steroid to 2.5mg on alternate days, her packed cell volume (PCV) dropped to 19 percent. The steroid was recommenced at 2mg/kg/day until the PCV normalized within three weeks. Thereafter, the steroid was gradually reduced. She is currently on 2.5mg twice daily, a dose that has maintained her PCV at between 28 and 37 percent.