Imerslund-Gräsbeck Syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report

Abstract

Abstract Background Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless（AMN） gene that causes IGS syndrome and underscores the importance of long-term oral vitamin B12 replacement therapy in managing the condition. Case presentation In this retrospective analysis, we present the clinical data of a 3-year and 6-month-old female child diagnosed with IGS at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in November 2018. The child was admitted to the hospital due to a history of anemia persisting for over a month. There was no significant medical history. The admission examination revealed megaloblastic anemia with proteinuria. Serum vitamin B12 levels were decreased, while folic acid and renal function were normal.The patient was diagnosed with megaloblastic anemia and started long-term oral vitamin B12 replacement therapy. Throughout the follow-up period, blood tests consistently showed normal results, while proteinuria persisted. In November 2019, the child and her parents underwent a whole-exon gene test, which revealed a novel compound heterozygous variant in the AMN gene: c.162 + 1G> A and c.922C> T (p.Q308X) in the child, c.162 + 1G> A in the father, and c.922C> T (p.Q308X) in the mother.Therefore, this child was further diagnosed with IGS. Conclusions In this case, oral vitamin B12 treatment also demonstrated positive clinical effects for the child, offering a new option for patients who are unable to undergo intramuscular vitamin B12 replacement therapy.