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Published on: June 28, 2024
[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]
C Mathey1, J-N Di Marco, A Poujol
1Service de Pédiatrie,Centre Hospitalier du Pays d'Aix, avenue des Tamaris, 13616 Aix-en-Provence, France. cmathey@ch-aix.fr
Insights
Infant vitamin B12 deficiency, often from maternal vegetarian diets or pernicious anemia, causes failure to thrive and developmental delays. Early diagnosis and supplementation are crucial for recovery, though neurological deficits may persist.
Area of Science:
- Pediatrics
- Neurology
- Nutritional Science
Background:
- Newborn vitamin B12 is solely from placental transfer, later from maternal diet (animal products).
- Strict maternal vegetarian diets or unrecognized pernicious anemia can lead to infant cobalamin deficiency.
- Infant vitamin B12 deficiency can manifest subtly, even without anemia, impacting development.
Observation:
- Three infants (3-13 months) presented with failure to thrive, anorexia, vomiting, psychomotor regression, and hypotonia.
- Hematological findings varied, including macrocytosis without anemia and severe microcytic anemia with megaloblastic bone marrow.
- Elevated methylmalonic acid and homocysteine confirmed vitamin B12 deficiency, with cerebral atrophy noted on imaging.
Findings:
- Maternal dietary choices (vegetarianism) and undiagnosed pernicious anemia were the primary causes of infant cobalamin deficiency.
- Vitamin B12 supplementation rapidly improved clinical and hematological parameters.
- Neurological recovery was incomplete in two cases, highlighting the potential for lasting deficits.
Implications:
- Vitamin B12 deficiency should be considered in infants with developmental delay, regardless of hematological signs, especially with vegetarian mothers.
- Early detection and intervention are critical to prevent irreversible neurological damage.
- Screening mothers for nutritional status and pernicious anemia is vital for preventing infant cobalamin deficiency.
Abstract:
The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.
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