Severe vitamin B12 deficiency presenting with blast- like atypical lymphoid cells and transient HPLC studies in an infant with suspected goldenhar syndrome: a diagnostic challenge

Severe vitamin B12 deficiency in infancy is uncommon and may produce profound hematological abnormalities. Rarely, marked hematogone proliferation can mimic acute leukemia because of atypical lymphoid cells in peripheral blood. An 8-month-old exclusively breastfed male presented with recurrent severe anemia, regurgitation, and lethargy. Hemoglobin was 4.8 g/dL, with macrocytosis, low corrected reticulocyte count, and markedly reduced serum vitamin B12 (

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Journal
IP Journal of diagnostic pathology and oncology/IP journal of diagnostic pathology and oncology/Journal of diagnostic pathology and oncology
Published
2026-10-30
DOI
https://doi.org/10.18231/j.jdpo.47408.1793354966
Primary Topic
Folate and B Vitamins Research
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article
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article

Severe vitamin B12 deficiency presenting with blast- like atypical lymphoid cells and transient HPLC studies in an infant with suspected goldenhar syndrome: a diagnostic challenge

Swati Raj, Shipra Jha
IP Journal of diagnostic pathology and oncology/IP journal of diagnostic pathology and oncology/Journal of diagnostic pathology and oncology
Folate and B Vitamins Research
article

Severe vitamin B12 deficiency presenting with blast- like atypical lymphoid cells and transient HPLC studies in an infant with suspected goldenhar syndrome: a diagnostic challenge

Swati Raj, Shipra Jha
article en

Abstract

Severe vitamin B12 deficiency in infancy is uncommon and may produce profound hematological abnormalities. Rarely, marked hematogone proliferation can mimic acute leukemia because of atypical lymphoid cells in peripheral blood. An 8-month-old exclusively breastfed male presented with recurrent severe anemia, regurgitation, and lethargy. Hemoglobin was 4.8 g/dL, with macrocytosis, low corrected reticulocyte count, and markedly reduced serum vitamin B12 (

IP Journal of diagnostic pathology and oncology/IP journal of diagnostic pathology and oncology/Journal of diagnostic pathology and oncologyVol. 11(3)
Government Doon Medical College (IN)
Good health and well-being
Openalex Percentile: Top 11%
Folate and B Vitamins Research
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