Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy

Fanconi’s Anemia is primarily an autosomal recessive genetic disorder characterized by congenital abnormalities, defective haematopoiesis leading to bone marrow failure and increased risk of development of Myelodysplastic syndrome, acute myeloid leukemia and solid tumours. Chromosomal instability can be demonstrated by breakage caused by alkylating agents and forms the basis of diagnosis. Our patient presented with structural deformities associated with features of bone marrow failure in form of pancytopenia. Bone marrow analysis and flow cytometry done on aspirate was suggestive of MDS. He subsequently progressed to frank acute myeloid leukemia and succumbed to the illness. The case is being reported for its rarity especially, Fanconi’s Anemia associated with monosomal karyotype (one monosomy plus one more structural abnormality).