Diamond Blackfan Syndrome

We report a case of Diamond Blackfan syndrome in 6yr old girl who was detected to have severe anaemia on D4 of life. The baby was detected to have polydactyly right hand (preaxial) and weak radial pulse on right side. On examination there was severe pallor without hepatosplenomegaly. The investigations revealed haemoglobin of 1.9 gm% with reticulocyte count of 0.3%. Other investigations were done to establish the cause of anaemia. The sickling test was negative, Peripheral blood smear revealed macrocytic anaemia, Hb electrophoresis revealed fetal haemoglobin of 2.7 %. Bone marrow examination revealed markedly reduced erythroid series, stress cytogenetics study done later was negative for any chromosomal breakage. Based on the clinical profile and investigation reports the diagnosis of Diamond Blackfan Syndrome was made. The child was put on corticosteroids which were gradually tapered. Subsequently any attempt at withdrawl of steroids resulted in fall in haemoglobin levels. Hence the child has been maintained on low dose steroids and has remained symptom free.