Publication: Imerslund-Grasbeck Syndrome: A Case Report
Date
2011
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 249 - 250
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Identifier
https://doi.org/10.3126/jnps.v31i3.5159