Department of Pediatrics, Polytechnic University of Marche, via Corridoni, Ancona, 60123, Italy.
Department of Pediatric Haematology and Oncology, Azienda Ospedaliera delle Marche, via Corridoni 11, Ancona, 60123, Italy.
Ital J Pediatr. 2024 Sep 18;50(1):186. doi: 10.1186/s13052-024-01759-x.
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.
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). These variants have been previously described in the literature, but their combination has never been reported.
Imerslund-Gräsbeck syndrome should be considered in the differential diagnosis of children with severe pancytopenia even in those without neurological involvement. This case emphasizes the importance of an early diagnosis and prompt treatment, to prevent irreversible neurological injury.
肠病性肢端皮炎（IGS）是一种罕见的常染色体隐性遗传病，其特征为巨幼细胞性贫血，这是由于选择性钴胺素吸收不良和良性蛋白尿所致。IGS 是由 cubam 受体功能障碍引起的，该受体介导钴胺素在回肠中的重吸收和白蛋白在肾近端小管中的重吸收。
我们描述了一例 23 个月大的意大利婴儿，表现为严重全血细胞减少和生长不良，诊断为 IGS，补充维生素 B12 治疗有效。基因分析（包括涉及骨髓衰竭和贫血的 214 个基因的 CNV 分析的 NGS）显示 AMN 基因中存在两个致病性变异（c-208-2 A > G 和 c.1006 + 34_1007-31del）。这些变异以前在文献中已有描述，但从未报道过它们的组合。
即使在没有神经受累的情况下，对于严重全血细胞减少的儿童，也应考虑肠病性肢端皮炎作为鉴别诊断。本病例强调了早期诊断和及时治疗的重要性，以防止不可逆的神经损伤。
