A mother's deficiency, a baby's challenge: vitamin B12 deficiency-related seizures and pancytopenia in an infant


  • Ana Rebelo Department of Hematology, Centro Hospitalar Universitário de Lisboa Central, Portugal
  • Margarida Serôdio Deparment of Pediatrics, Centro Hospitalar de Lisboa Ocidental, Portugal
  • Francisco Branco Caetano Department of Pediatrics, Centro Hospitalar Universitário de Lisboa Central, Portugal
  • Andreia Gomes Pereira Neuropediatrics Unit, Centro Hospitalar Universitário de Lisboa Central, Portugal
  • Raquel Maia Pediatric Hematology Unit, Centro Hospitalar Universitário de Lisboa Central, Portugal




Infant, Anemia, Cobalamin, B12, B12 deficiency, Pernicious anemia, Neurocognitive impairment, Pregnancy


Anemia is prevalent in pediatric age and it stems from diverse factors. While iron deficiency is a common cause above six months of age, other nutritional deficits contribute to the disease burden. During pregnancy, anemia due to nutritional deficits is associated with adverse outcomes for the newborn. Precise diagnosis of dietary deficits in the pediatric population is vital to avert negative health consequences. We describe the case of a six-month-old exclusively breastfed infant with a mother having unspecified anemia under folic acid supplementation. The infant presented with neurological symptoms, including paroxysmal events and developmental regression. Laboratory analysis revealed pancytopenia and severe vitamin B12 deficiency. The patient’s mother's serum level of vitamin B12 was also low and ant parietal cell antibodies were positive, suggesting maternal autoimmune gastritis. Treatment with hydroxocobalamin led to clinical and analytical improvement. Maternal deficiency is the major cause of cobalamin deficiency in infants. It is paramount to raise awareness to this issue to prevent its avoidable repercussions.


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How to Cite

Rebelo, A., Serôdio, M., Caetano, F. B., Pereira, A. G., & Maia, R. (2024). A mother’s deficiency, a baby’s challenge: vitamin B12 deficiency-related seizures and pancytopenia in an infant. International Journal Of Community Medicine And Public Health, 11(2), 959–962. https://doi.org/10.18203/2394-6040.ijcmph20240011



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