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本文引用的文献

1
Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia.隐匿性母体恶性贫血所致婴儿钴胺素缺乏的早期诊断与治疗
J Pediatr Hematol Oncol. 2010 May;32(4):319-22. doi: 10.1097/MPH.0b013e3181d74719.
2
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?40 例母乳喂养婴儿营养性维生素 B12 缺乏的临床表现和代谢后果——我们从中得到了什么启示?
Eur J Paediatr Neurol. 2010 Nov;14(6):488-95. doi: 10.1016/j.ejpn.2009.12.003. Epub 2010 Jan 20.
3
A breast-fed newborn with megaloblastic anemia-treated with the vitamin B12 supplementation of the mother.一名母乳喂养的新生儿患有巨幼细胞贫血,通过对母亲补充维生素B12进行治疗。
J Pediatr Hematol Oncol. 2009 Oct;31(10):763-5. doi: 10.1097/MPH.0b013e3181b7edb5.
4
Oral or intramuscular vitamin B12?口服还是肌肉注射维生素B12?
Drug Ther Bull. 2009 Feb;47(2):19-21. doi: 10.1136/dtb.2009.01.0002.
5
Clinical manifestations of infants with nutritional vitamin B deficiency due to maternal dietary deficiency.由于母亲饮食缺乏导致婴儿营养性维生素B缺乏的临床表现。
Acta Paediatr. 2009 Jan;98(1):98-102. doi: 10.1111/j.1651-2227.2008.01059.x. Epub 2008 Oct 6.
6
Pancytopenia due to vitamin B12 deficiency in a breast-fed infant.一名母乳喂养婴儿因维生素B12缺乏导致全血细胞减少。
Pediatr Hematol Oncol. 2008 Jun;25(4):365-7. doi: 10.1080/08880010802016789.
7
Effect of vitamin B12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms.维生素B12缺乏对婴儿神经发育的影响:当前认知与可能机制
Nutr Rev. 2008 May;66(5):250-5. doi: 10.1111/j.1753-4887.2008.00031.x.
8
Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.母体亚临床恶性贫血继发的新生儿维生素B12缺乏症:通过扩大新生儿筛查进行识别
J Pediatr. 2008 May;152(5):731-3. doi: 10.1016/j.jpeds.2008.01.023.
9
Masked deficit of vitamin B12 in the patient with heterozygous beta-thalassemia and spastic paraparesis.β地中海贫血杂合子和痉挛性截瘫患者中维生素B12的隐匿性缺乏
Acta Neurol Belg. 2004 Dec;104(4):173-5.
10
Masked deficit of vitamin B12 in a Turkish girl with thalassemia.一名患有地中海贫血的土耳其女孩存在维生素B12隐匿性缺乏。
Pediatr Hematol Oncol. 2004 Jun;21(4):363-5. doi: 10.1080/08880010490456755.

一名婴儿患严重巨幼细胞贫血。

Severe megaloblastic anaemia in an infant.

作者信息

Rodrigues Vera, Dias Alexandra, Brito Maria João, Galvão Isabel, Ferreira Gonçalo Cordeiro

机构信息

Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa, Portugal.

出版信息

BMJ Case Rep. 2011 May 16;2011:bcr0220113835. doi: 10.1136/bcr.02.2011.3835.

DOI:10.1136/bcr.02.2011.3835
PMID:22696751
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3097362/
Abstract

Vitamin B(12) or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia. In this article, the authors describe a 10-month-old infant admitted for vomiting, refusal to eat and prostration. The infant was exclusively breastfed and difficulties in introduction of new foods were reported. Failure to thrive since 5 months of age was also noticed. Laboratory evaluation revealed severe normocytic normochromic anaemia and cobalamin deficit. A diagnosis of α-thalassemia trait was also made. Maternal investigation showed autoimmune pernicious anaemia. This case shows the severity of vitamin B(12) deficiency and the importance of adopting adequate and precocious measures in order to prevent potentially irreversible neurologic damage.

摘要

维生素B12或钴胺素缺乏在儿童期是一种罕见的临床病症,绝大多数见于纯母乳喂养的婴儿,其母亲为严格素食且未进行营养补充或患有恶性贫血。在本文中,作者描述了一名10个月大的婴儿,因呕吐、拒食和精神萎靡入院。该婴儿为纯母乳喂养,据报告在引入新食物方面存在困难。自5个月大以来还发现生长发育迟缓。实验室检查显示严重的正细胞正色素性贫血和钴胺素缺乏。同时还诊断出α地中海贫血特征。对母亲的检查显示患有自身免疫性恶性贫血。该病例显示了维生素B12缺乏的严重性以及采取适当和早期措施以预防潜在不可逆神经损伤的重要性。