Piñán M A, Navajas A, Hall C A, Moya E, Bezanilla J L
Sangre (Barc). 1989 Oct;34(5):365-7.
Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.
巨幼细胞贫血在生命的最初几周非常罕见,它与叶酸或维生素B12代谢受损有关。其中一种疾病是先天性转钴胺素II缺乏症。本文介绍了一名三个月大婴儿的病例,该婴儿出现呕吐、腹泻和严重贫血。父母和孩子的血清转钴胺素II水平分别非常低或检测不到。使用大剂量的肌肉注射羟钴胺素后,临床和实验室反应令人满意。