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Open Access 01-12-2013 | Case report

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Authors: Gianpaolo De Filippo, Domenico Rendina, Vincenzo Rocco, Teresa Esposito, Fernando Gianfrancesco, Pasquale Strazzullo

Published in: Italian Journal of Pediatrics | Issue 1/2013

Abstract

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.

The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdiagnosed.

When there is reasonable evidence to suspect that a patient suffers from IGS, a new and straightforward approach to diagnosis is mutational analysis of the appropriate genes. We report for the first time the case of a girl of Italian ancestry with IGS genetically confirmed by the detection of a homozygous missense mutation in the AMN gene (c.208-2 A > G).

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Title: Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
Authors: Gianpaolo De Filippo
Domenico Rendina
Vincenzo Rocco
Teresa Esposito
Fernando Gianfrancesco
Pasquale Strazzullo
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2013
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/1824-7288-39-58

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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