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Vitamine B12 deficiency in children : a diagnostic challenge

Journal Volume 84 - 2021
Issue Fasc.1 - Case series
Author(s) J. Van Vlaenderen, J. Christiaens, M. Van Winckel, R. De Bruyne, S. Vande Velde, S. Van Biervliet
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Department of Paediatric Gastroenterology, University Hospital Ghent, Corneel Heymanslaan 10, 9000 Ghent, Belgium

Cobalamin or vitamin B12 (vitB12) is involved in DNA synthesis, haematopoiesis and myelinisation. Consequently, vitB12 deficiency causes various symptoms, such as megaloblastic anaemia, neurologic signs or pancytopenia. Despite possible severe symptoms, vitB12 deficiency can present asymptomatically. We report six paediatric patients with different aetiologies of vitB12 deficiency ranging from a subtle to a more overt presentation. VitB12 deficiency is a diagnostic challenge due to the lack of consensus on normal values of vitB12 and its co-markers (folate, holotranscobalamin, methylmalonic acid, homocysteine) and the lack in specificity and sensitivity of the serum vitB12 analysis. All cases were treated with parenteral vitB12. Last decades, evidence supporting high dose oral treatment being as effective as the intramuscular (IM) therapy, also in children, is growing

Keywords: children, cobalamin deficiency, vitB12 deficiency.

© Acta Gastro-Enterologica Belgica.
PMID 33639702