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Year : 2017  |  Volume : 6  |  Issue : 4  |  Page : 228-229

Imerslund-Grasbeck syndrome presenting as pancytopenia: A rare case report

Department of Medicine, Dr. Yashwant Singh Parmar Government Medical College, Nahan, Himachal Pradesh, India

Correspondence Address:
Dr. Pravesh Agarwal
H.N. 1652/6, Near S.E.P.W.D, Circle Office, Nahan, District-Sirmour, Himachal Pradesh - 173 001
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijhas.IJHAS_30_17

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Imerslund-Grasbeck syndrome or selective Vitamin B12 malabsorption with proteinuria or megaloblastic anemia 1 is a rare autosomal recessive disorder. The main feature of this condition is megaloblastic anemia due to Vitamin B12 deficiency with or without persistent proteinuria (with no signs of kidney disease). The disease appears from 4 months up to several years after birth. The cause is a defect in the receptor of the Vitamin B12-intrinsic factor complex of the ileal enterocytes. Management includes lifelong parenteral Vitamin B12, and with this, the patients remain healthy for decades. However, the proteinuria persists. We present a 14-year-old male child suffering from this syndrome presenting to us with pancytopenia due to Vitamin B12 deficiency and proteinuria with normal kidneys. There is hardly any case report of this syndrome from North India.

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