Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child

• Published in: European journal of medical genetics Vol. 63; no. 6; p. 103880
• Main Authors: Gurlek Gokcebay, Dilek, Akpinar Tekgunduz, Sibel, Cavdarli, Busranur
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01-06-2020
• Subjects: Amnionless; Anemia, Hemolytic - genetics; Anemia, Hemolytic - pathology; Anemia, Megaloblastic - genetics; Anemia, Megaloblastic - pathology; Child; Children; Female; Homozygote; Humans; Imerslund-gräsbeck syndrome; Infant; Malabsorption Syndromes - genetics; Malabsorption Syndromes - pathology; Male; Membrane Proteins - genetics; Mutation; Pedigree; Proteinuria - genetics; Proteinuria - pathology; Thrombotic microangiopathy; Vitamin B 12 Deficiency - genetics; Vitamin B 12 Deficiency - pathology; Vitamin B12 deficiency; Thrombotic microangiopathy; Children; Amnionless; Imerslund-gräsbeck syndrome; Vitamin B12 deficiency
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.103880

Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even “pseudo”-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. We report a child presenting with TMA features with cobalamin deficiency. Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Gräsbeck Syndrome with the detection of a homozygous mutation in AMN gene.