Banka Siddharth, Roberts Ruth, Plews Dianne, Newman William G
Academic Unit of Medical Genetics, University of Manchester, Manchester, UK.
J Pediatr Hematol Oncol. 2010 May;32(4):319-22. doi: 10.1097/MPH.0b013e3181d74719.
We report case of an infant who presented with failure to thrive and developmental delay at 4 months of age. He was diagnosed to have vitamin B12 deficiency and antibodies to intrinsic factor secondary to undiagnosed maternal pernicious anemia. The child was treated with hydroxocobalamin and now at 2 years of age, he is developing and growing within normal range. We review the literature on this rare cause of cobalamin deficiency in infants. We highlight the factors determining the outcome and situations where raised index of suspicion could help in recognizing this preventable cause of developmental delay and learning difficulties.
我们报告了一例4个月大时出现生长发育迟缓的婴儿病例。他被诊断为维生素B12缺乏症，并因未被诊断出的母亲恶性贫血而产生内因子抗体。该患儿接受了羟钴胺治疗，现在2岁，其发育和生长处于正常范围。我们回顾了关于婴儿钴胺素缺乏这一罕见病因的文献。我们强调了决定预后的因素以及提高怀疑指数有助于识别这种可预防的发育迟缓和学习困难病因的情况。
