摘要
The vitamin B-12 status of infants depends on maternal B-12 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-12 and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B-12 injections. Marked catch-up of developmental milestones was noted after treatment with B-12. Investigations of parents showed normal B-12 in the father and combined B-12 and iron deficiency in the mother. Maternal B-12 deficiency, most likely masked by iron deficiency, led to severe B-12 deficiency in the infant. Exclusive breastfeeding and a subsequent failure to wean exacerbated the infant's B-12 deficiency leading to developmental delay. This case highlights the need for development of guidelines for better assessment of B-12 status during pregnancy.
- 出版日期2017-8