Severe pancytopenia at the presentation of Imerslund-Grasbeck syndrome in a 23-month-old Italian boy.

ABSTRACT:

Background

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in the ileum and the reuptake of albumin in renal proximal tubules.

Case presentation

We describe the case of a 23-month-old-italian infant presenting with severe pancytopenia and failure to thrive in whom the diagnosis of IGS was made and vitamin B12 replacement therapy was resolutive. Genetic analysis (NGS with CNV analysis including 214 genes involved in bone marrow failure and anemia), showed the presence of two pathogenetic variants in the AMN gene (c-208-2 A > G and c.1006 + 34_1007-31del

SUBMITTER: Di Sario F 

PROVIDER: S-EPMC11411748 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature