2014, Number 1
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ABSTRACTCyanocobalamin and folates are necessary cofactors for RNA and DNA synthesis, so they are critical to the development and growth in the early stages of life. Cobalamin deficiency has been associated with failure to thrive, moderate to severe anemia and neurological manifestations caused by central nervous system demyelination.In children, this is a truly exceptional pathology, so it provides special diagnostic and therapeutic challenges. This paper reports the case of a 1-year and 5-months-old male patient with anemia, thrombocytopenia and delayed psychomotor development. Initial blood count with hemoglobin 3.4 g/ dL, MCV 87.1 fL, MCH 25.8 pg, RDW 26.4%, WBC 5.55 K/uL, neutrophils 1.4 k/uL, platelets 98 K/uL, reticulocytes 2%, total bilirubin 3.31 mg/dL, indirect bilirubin 2.8 mg/dL, LDH 1,984 IU/L, negative direct Coombs. Peripheral blood smear showed hypersegmented neutrophils and bone marrow aspirate with megalobastic changes. Vitamin B12 levels were decreased, so replacement therapy was initiated. Although VCM was not high, the resolution of neurological symptoms and normalization of blood count after treatment confirmed our initial diagnostic suspicion.
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