Thomas P K, Hoffbrand A V, Smith I S
J Neurol Neurosurg Psychiatry. 1982 Jan;45(1):74-7. doi: 10.1136/jnnp.45.1.74.
A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the limbs. Following treatment with hydroxocobalamin, his condition has slowly improved but he has remained with a severe neurological deficit. The consequences of vitamin B12 deficiency on neurological development in infancy are discussed.
本文描述了一例伴有神经受累的遗传性转钴胺素II缺乏症病例。该患者在婴儿早期出现巨幼细胞贫血，从6周龄开始接受亚叶酸治疗。直到2岁时，他出现严重智力发育迟缓、共济失调和四肢锥体束征，才确诊为转钴胺素II缺乏症。接受羟钴胺治疗后，他的病情逐渐改善，但仍存在严重的神经功能缺损。本文讨论了维生素B12缺乏对婴儿神经发育的影响。
