Fiche publication
Date publication
février 2026
Journal
Clinical case reports
Auteurs
Membres identifiés du Cancéropôle Est :
Pr OUSSALAH Abderrahim
Tous les auteurs :
Cluzeau T, Oussalah A, Silva Rodriguez M, Naïmi M
Lien Pubmed
Résumé
A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post-parenteral B12. This case highlights the need for metabolic/genetic workup in atypical cytopenias.
Mots clés
digenic mechanism, folate, myelodysplasia, vitamin B12
Référence
Clin Case Rep. 2026 02;14(2):e71872
