{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T05:04:22Z","timestamp":1793163862591,"version":"4.5.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Imerslund-Gr\u00e4sbeck 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>AMN<\/jats:italic>\n                      gene (c-208\u20132\u00a0A\u2009&gt;\u2009G and c.1006\u2009+\u200934_1007-31del). These variants have been previously described in the literature, but their combination has never been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Imerslund-Gr\u00e4sbeck 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13052-024-01759-x","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T14:02:19Z","timestamp":1726668139000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Severe pancytopenia at the presentation of Imerslund-Gr\u00e4sbeck syndrome in a 23-month-old Italian boy"],"prefix":"10.1186","volume":"50","author":[{"given":"Francesca","family":"Di Sario","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Piloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Gasparini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Serpetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Bruschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Coccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elena","family":"Lionetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Gatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"1759_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1750-1172-1-17","volume":"1","author":"R Gr\u00e4sbeck","year":"2006","unstructured":"Gr\u00e4sbeck R. Imerslund-Gr\u00e4sbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1:17.","journal-title":"Orphanet J Rare Dis"},{"key":"1759_CR2","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1111\/j.0954-6820.1960.tb03549.x","volume":"167","author":"R Gr\u00e4sbeck","year":"1960","unstructured":"Gr\u00e4sbeck R, Gordin R, Kantero I, Kublaback B. Selective vitamin B 12 malabsorption and proteinuria in young people. Acta Med Scand. 1960;167:289\u201396.","journal-title":"Acta Med Scand"},{"key":"1759_CR3","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1203\/PDR.0b013e3182242124","volume":"70","author":"R Gr\u00e4sbeck","year":"2011","unstructured":"Gr\u00e4sbeck R, Tanner SM. Juvenile selective vitamin B malabsorption: 50 years after its description-10 years of genetic testing. Pediatr Res. 2011;70:222\u20138.","journal-title":"Pediatr Res"},{"key":"1759_CR4","first-page":"39","volume":"17","author":"G De Filippo","year":"2013","unstructured":"De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P. Imerslund-Gr\u00e4sbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. Ital J Pediatr. 2013;17:39\u201358.","journal-title":"Ital J Pediatr"},{"key":"1759_CR5","doi-asserted-by":"crossref","unstructured":"Pacitto A, Prontera P, Stangoni G, Stefanelli M, Ceppi S, Cerri C et al. Imerslund-Gr\u00e4sbeck Syndrome in an infant with a Novel Intronic variant in the AMN Gene: a Case Report. Int J Mol Sci 201927; 20(3):527.","DOI":"10.3390\/ijms20030527"},{"key":"1759_CR6","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1111\/j.1651-2227.2006.tb02378.x","volume":"450","author":"WHO Multicentre Growth Reference Study Group","year":"2006","unstructured":"WHO Multicentre Growth Reference Study Group. 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The typology of the study did not require the local ethics committee (CERM) approval.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A formal consent was obtained from the family for case description and publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"186"}}