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Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome.

作者信息

Salameh M M, Banda R W, Mohdi A A

机构信息

Division of Pediatrics, Saudi Aramco-Dhahran Health Center, Saudi Arabia.

出版信息

J Neurol. 1991 Sep;238(6):349-50. doi: 10.1007/BF00315337.

DOI:10.1007/BF00315337
PMID:1940989
Abstract

Vitamin B12 malabsorption in the ileum has been postulated as the underlying cause of the Imerslund-Grasbeck syndrome comprising megaloblastic anemia, proteinuria, and multiple neurological abnormalities. A young Saudi child with spasticity, truncal ataxia, cerebral atrophy, megaloblastic anaemia and proteinuria is described. Replacement therapy with parenteral vitamin B12 resulted in the complete resolution of his neurological findings and brain atrophy.

摘要

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引用本文的文献

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Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.伊默斯朗-格拉斯贝克综合征:病例报告综合综述。
Orphanet J Rare Dis. 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x.
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Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.突尼斯患者中1型巨幼细胞贫血的遗传异质性。
J Hum Genet. 2007;52(3):262-270. doi: 10.1007/s10038-007-0110-0. Epub 2007 Feb 7.
3
Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q.犬类Imerslund-Gräsbeck综合征定位于与人类14号染色体长臂同源的区域。

本文引用的文献

1
Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.年轻人中的选择性维生素B12吸收不良和蛋白尿。一种综合征。
Acta Med Scand. 1960 Jul 15;167:289-96. doi: 10.1111/j.0954-6820.1960.tb03549.x.
2
Ileal mucosa in familial selective vitamin B 12 malabsorption.家族性选择性维生素B12吸收不良中的回肠黏膜
N Engl J Med. 1972 May 11;286(19):1021-5. doi: 10.1056/NEJM197205112861902.
3
Selective malabsorption of vitamin B 12: report of a case with metabolic studies.维生素B12选择性吸收不良:一例代谢研究报告
Mamm Genome. 2003 Nov;14(11):758-64. doi: 10.1007/s00335-003-2280-1.
Am J Dis Child. 1974 May;127(5):713-7. doi: 10.1001/archpedi.1974.02110240099015.
4
Vitamin B12 and brain development.维生素B12与大脑发育
Eur J Pediatr. 1987 Mar;146(2):201-5. doi: 10.1007/BF02343237.