Introduction: A deficient supply of vitamin B12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy.
Case Reports: We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B12, as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal.
Conclusions: Vitamin B12 deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies.
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