Case Report - Solution
Giada Del Baldo, Simona Gatti, Carlo Catassi
Clinica Pediatrica, Università Politecnica delle Marche, Ancona
We report the case of a girl with Down Syndrome (DS) and with an history of vomiting, stomatitis, failure to thrive, diarrhea, anaemia and thrombocytopenia. She was initially diagnosed with myelodysplastic syndrome and vitamin B12 deficiency, not responding to standard oral treatment. In the suspicion of congenital B12 malabsorption DNA was analyzed for Imerslund-Grasebeck syndrome (IGS). A previously undescribed pathogenetic variant in the CUBN gene was found, leading to the final diagnosis. To date a few cases of pediatric IGS have been reported and this is the first case confirmed in a child with DS.