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

Ana Rebelo, Margarida Serôdio, Francisco Branco Caetano, Andreia Gomes Pereira, Raquel Maia
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Abstract

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.
母亲的缺乏,婴儿的挑战:婴儿因缺乏维生素 B12 而出现癫痫和全血细胞减少症
贫血是儿科常见病,其病因多种多样。虽然缺铁是 6 个月以上婴儿贫血的常见原因,但其他营养缺乏也会加重疾病负担。在怀孕期间,营养缺乏导致的贫血会对新生儿造成不良后果。准确诊断儿科人群的膳食营养缺乏症对于避免不良健康后果至关重要。我们描述了一例六个月大的纯母乳喂养婴儿的病例,其母亲在补充叶酸的情况下患有不明原因的贫血。婴儿出现神经系统症状,包括阵发性事件和发育倒退。实验室分析显示其患有全血细胞减少症和严重的维生素 B12 缺乏症。患者母亲的血清中维生素 B12 含量也很低,抗顶叶细胞抗体呈阳性,提示母亲患有自身免疫性胃炎。使用羟钴胺治疗后,临床和分析结果均有所改善。母体缺乏维生素 B12 是导致婴儿钴胺素缺乏症的主要原因。必须提高对这一问题的认识,以防止可避免的后果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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