PANCYTOPENIA WITH CHROMOSOMAL FRAGILITY - VITAMIN-B-12 DEFICIENCY

Purpose: Pancytopenia in children may have many etiologies. Chromosoma l abnormalities with pancytopenia is of particular concern because clo nal abnormalities indicate a neoplastic process. We describe three chi ldren who had vitamin B-12 deficiency and who displayed pancytopenia w ith multiple chromosomal breaks, rearrangements, and deletions consist ent with chromosomal fragility. Severe vitamin B-12 deficiency is rare in children and should be considered in the differential diagnosis of a child with pancytopenia, dyserythropoiesis, and multiple chromosoma l abnormalities. Patients and Methods: Three children displayed pancyt openia with dyserythropoiesis in the bone marrow. Routine cytogenetic analyses in all three patients were performed and chromosome breakage study was performed on the peripheral blood of one patient after vitam in B-12 supplementation. Results: All three patients had severe vitami n B-12 deficiency. Spontaneous chromosomal fragility was seen in routi ne cytogenetic analyses in all three patients. Vitamin B-12 supplement ation resolved the pancytopenia in all three patients and spontaneous and diepoxybutane-induced breakage rates in chromosomes were well with in normal rates after therapy in one patient. Conclusion: The presence of pancytopenia with cytogenetic abnormalities in a child is worrisom e. However, careful interpretation of dyserythropoiesis and megaloblas tic changes in bone marrow in the aforementioned clinical situation wo uld result in the correct diagnosis of a disorder that is easily cured .