Sobczyńska-Malefora A, Ramachandran R, Cregeen D, Green E, Bennett P, Harrington D J, Lemonde H A
The Nutristasis Unit, Viapath, St. Thomas' Hospital, London, UK.
Faculty of Life Sciences &Medicine, King's College London, London, UK.
Eur J Clin Nutr. 2017 Aug;71(8):1013-1015. doi: 10.1038/ejcn.2017.85. Epub 2017 May 24.
The vitamin B status of infants depends on maternal B status during pregnancy, and during lactation if breastfed. We present a 9-month-old girl who was admitted to the metabolic unit for assessment of developmental delay. She was exclusively breastfed and the introduction of solids at 5 months was unsuccessful. Investigations revealed pancytopenia, undetectable B and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B injections. Marked catch-up of developmental milestones was noted after treatment with B. Investigations of parents showed normal B in the father and combined B and iron deficiency in the mother. Maternal B deficiency, most likely masked by iron deficiency, led to severe B deficiency in the infant. Exclusive breastfeeding and a subsequent failure to wean exacerbated the infant's B deficiency leading to developmental delay. This case highlights the need for development of guidelines for better assessment of B status during pregnancy.
婴儿的维生素B状况取决于孕期母亲的B状况,若为母乳喂养则还取决于哺乳期母亲的B状况。我们报告一名9个月大的女孩,她因发育迟缓被收治入代谢科进行评估。她一直纯母乳喂养,5个月时添加固体食物未成功。检查发现全血细胞减少、维生素B检测不到、甲基丙二酸和同型半胱氨酸水平大幅升高。注射维生素B后,甲基丙二酸和同型半胱氨酸水平恢复正常。用维生素B治疗后,发育里程碑出现明显追赶。对其父母的检查显示,父亲的维生素B水平正常,母亲存在维生素B和铁缺乏。母亲的维生素B缺乏很可能被铁缺乏掩盖,导致婴儿严重维生素B缺乏。纯母乳喂养以及随后断奶失败加剧了婴儿的维生素B缺乏,导致发育迟缓。该病例凸显了制定孕期更好评估维生素B状况指南的必要性。