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CC BY-NC-ND 4.0 · J Lab Physicians 2011; 3(02): 113-115
DOI: 10.4103/0974-2727.86845
Case Report

Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

Kishan Prasad Hosapatna Laxminarayana
Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India
,
Sunil Kumar Yeshvanth
Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India
,
Jayaprakash K Shetty
Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India
,
Harish S Permi
Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India
,
Chandrika Rao
Department of Pathology, K S Hegde Medical Acadmey of Nitte University, Mangalore, India
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ABSTRACT

Imerslund 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.

Keywords

Childhood anemia - megaloblastic anemia - Imerslund Grasbeck


Publication History

Article published online:
09 May 2020

© 2011.

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  • REFERENCES

  • 1 Gomber S, Kela K, Dhingra N. In brief reports, Clinico-hematological profile of megaloblastic anemia. Indian Pediatr 1998;35:55-8.
  • 2 Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B12 malabsorbtion with proteinuria). Orphanet J Rare Dis 2006;1:17.
  • 3 Lin SH, Sourial NA, Lu KC, Hsueh EJ. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. J Clin Pathol 1994;47:956-8.
  • 4 SH Lin, Sourial NA, Lu KC, Hsueh EJ. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. J Clin Pathol 1994;47:956-8.
  • 5 Ralph Green in chapter 41, Folate, cobalamin and megaloblastic Anemias. In: Kaushansky K, Litchman MA, Beutler E, Kipps TJ, Seligsohn U, editors. Williams Hematology. 8th ed. New Delhi: Mc Graw-Hill Publication; 2010. p. 533-63.
  • 6 Ayub T, Khan FU. Prevalence of megaloblastic anaemia in a paediatric unit. Gomal J Med Sci 2009;7:62-4.
  • 7 Broch H, Imerslund O, Monn E, Hovig T, Seip M. Imerslund Grasbeck anemia. A long- term follow-up study. Acta Paediatr Scand 1984;73:248-53.
  • 8 Wickramasanghe SN in chapter 12, Macrocytic anemia. In Wickramasinghe SN′s Blood and Bone Marrow Pathology. London: Churchill Livingstone; 2003. p. 229-47.