Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

Author:

Laxminarayana Kishan Prasad Hosapatna1,Yeshvanth Sunil Kumar1,Shetty Jayaprakash K1,Permi Harish S1,Rao Chandrika1

Affiliation:

1. Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India

Abstract

ABSTRACTImerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

Publisher

Georg Thieme Verlag KG

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