Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Sandra D K Kingma, Julie Neven, An Bael, Marije E C Meuwissen, Machiel van den Akker

Journal: Orphanet journal of rare diseases 2023;18(1):291

PMID: 37710296

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Abstract

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.

Address: Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium.; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Nephrology, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium. [email protected].; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium. [email protected].; Department of Pediatrics, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium. [email protected].; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium. [email protected].

DOI: 10.1186/s13023-023-02889-x

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MeSH Terms: Proteinuria, Vitamin B 12 Deficiency, Vitamin B 12, Anemia, Megaloblastic, Humans, Malabsorption Syndromes