1Scuola di Specializzazione in Pediatria, Università di Ferrara
2UOC di Pediatria, Ospedale Maggiore, Bologna
3UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
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Key words: Vitamin B12 deficiency, Developmental regression, Macrocytic anaemia, Cobalamin
Vitamin B12 deficiency, a rare condition in the paediatric population, can lead to serious haematological consequences and alterations in the neurocognitive development if not promptly recognized and treated. The paper reports the cases of two infants of 12 and 10 months of age who presented with an important developmental regression and macrocytic anaemia. The deficiency in cobalamin was also confirmed by maternal blood samples, in one case due to unrecognized finding of pernicious anaemia and in the other to a diet poor in cobalamin. The beginning of therapy with vitamin B12 led to a prompt clinical improvement in both cases, but involuntary movements appeared. They are a benign condition of unknown etiology that improved with a short symptomatic treatment with benzodiazepine. The prognosis of vitamin B12 deficiency is better if the diagnosis is made within the first year of life. Maternal history allows the identification of any risk conditions, especially nutritional, such as vegan maternal diet. In these cases, vitamin B12 supplementation during pregnancy and lactation prevents deficiency in breastfed infants.
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