[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.

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