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Abstract
Aim Severe macrocytic anemia due to vitamin B12(VB12) deficiency in the early stages of infancy is a rare entity. Jaundice caused by hemolysis, and bone marrow(BM) histopathological resemblance to hematologic malignancies due to megaloblastic changes can be challenging through the diagnostic journey. A 6-month-old infant with severe VB12 deficiency is presented.
Results The 6-month-old male patient was brought to the pediatric emergency department due to escalating fatigue, lethargy, jaundice, and non-bilious vomiting over several weeks. Initial tests revealed severe macrocytic anemia (Mean Corpuscular Volume 108.4 fL) with a Hemoglobin level of 6.0 gr/dl, indirect hyperbilirubinemia, and neutropenia. Further examinations showed severely low VB12 levels and high homocysteine values, indicating primarily VB12 deficiency. BM aspiration previously done to rule out malignancy raised concern because of the suspicious flow cytometry results and the blastic morphology as seen in figure 1, but subsequent tests indicated a positive response to VB12 treatment. The exclusively breastfed patient‘s mother was shown to have low VB12 levels. The patient was discharged with VB12 treatment, leaning away from malignancy due to the positive therapeutic clinical and laboratory-wise response.
Conclusions VB12 deficiency leads to dyserythropoiesis, anemia, and pancytopenia. The deficiency causes immature precursor cells in the BM to die, resulting in macrocytic erythrocytes. Severe cases may manifest with jaundice due to hemolysis. A case of a 2-year-old with megaloblastic anemia and a chromosomal abnormality(7q deletion) with unusual BM morphology was diagnosed with VB12 deficiency. Similar cases in exclusively breastfed infants and in adults who were initially suspected of thrombotic thrombocytopenic purpura or microangiopathic hemolytic anemia are known. It is crucial to consider VB12 deficiency before searching for malignancies or other serious conditions, given its treatability. Early detection and treatment are essential for preventing sequelae neurological symptoms. It is suggested to check maternal VB12 levels in infants, even without apparent risk factors, to avoid unnecessary diagnostic procedures.
The bone marrow aspiration photographs showing megaloblastic changes. Cells with immature nuclei which are hard to discriminate in between hematogones and blasts were seen