Imerslund-Grasbeck Syndrome: A Case Report

  • TN Ghosh Associate Professor, Department of Paediatrics, Medical College, Burdwan
  • K Nayek Associate Professor, Department of Paediatrics, Medical College, Burdwan
  • A Banerjee Post Graduate Trainee, Department of Paediatrics, Medical College, Burdwan
Keywords: Imerslund Grasbeck Syndrome, Megaloblastic anaemia, Proteinuria

Abstract

Imerslund-Grasbeck syndrome is a rare autosomal recessive disorder due to selective malabsorption of Vitamin B12 at the level of cobalamin-intrinsic factor receptor mutation in the terminal ileum resulting in megaloblastic anaemia with proteinuria. Early detection of this rare disorder would enable screening and genetic counselling for asymptomatic family members.

Key words: Imerslund Grasbeck Syndrome; Megaloblastic anaemia; Proteinuria

DOI: http://dx.doi.org/10.3126/jnps.v31i3.5159

J Nep Paedtr Soc 2011;31(3): 249-250

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Abstract
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PDF
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Published
2011-09-20
How to Cite
Ghosh, T., Nayek, K., & Banerjee, A. (2011). Imerslund-Grasbeck Syndrome: A Case Report. Journal of Nepal Paediatric Society, 31(3), 249-250. https://doi.org/10.3126/jnps.v31i3.5159
Section
Brief Reports/Case Reports/Case Series