[Floppy baby with macrocytic anemia and vegan mother]
L J Schlapbach1, B Schütz, J M Nuoffer
1Medizinische Universitäts-Kinderklinik, Inselspital, Bern. luregn.schlapbach@insel.ch
Insights
Infantile cobalamin deficiency, caused by maternal vegan diet, can lead to severe floppy baby syndrome, megaloblastic anemia, and failure to thrive. Early diagnosis and vitamin B12 supplementation are crucial to prevent irreversible neurological damage.
Area of Science:
- Pediatrics
- Neurology
- Nutrition
Background:
- Maternal dietary choices significantly impact infant health.
- Cobalamin (vitamin B12) is essential for neurological development and red blood cell formation.
- Vegan diets require careful planning to ensure adequate vitamin B12 intake.
Observation:
- A 7-month-old infant presented with acute anemia, generalized muscular hypotonia, and failure to thrive.
- Laboratory tests confirmed severe cobalamin deficiency.
- The infant's mother followed a strict vegan diet during pregnancy and lactation.
Findings:
- The clinical presentation was consistent with infantile cobalamin deficiency, characterized by floppy baby syndrome, megaloblastic anemia, and failure to thrive.
- Neurological abnormalities, potentially irreversible, were noted and associated with delayed myelination on MRI.
- Subclinical maternal deficiency, even with normal serum cobalamin and no anemia, can affect the infant.
Implications:
- Early screening for cobalamin deficiency in infants of mothers on vegan diets is critical.
- Measuring urinary methylmalonic acid and plasma homocysteine can aid in diagnosing subclinical deficiency.
- Prompt cobalamin supplementation is vital to prevent irreversible neurological damage in infants and fetuses.
Abstract:
We report the case of a 7 month-old girl that presented with acute anemia, generalized muscular hypotonia and failure to thrive. Laboratory evaluation revealed cobalamin deficiency, due to a vegan diet of the mother. The clinical triad of an acquired floppy baby syndrome with megaloblastic anemia and failure to thrive is pathognomic for infantile cobalamin deficiency. Neurological abnormalities are often irreversible and may be associated with delayed myelinization in the MRI. A normal cobalamin level in maternal serum and absence of anemia do not exclude subclinical deficiency. If cobalamin deficiency is suspected, e.g. in pregnant women on vegan diet, urinary methylmalonic acid excretion and plasma homocysteine levels should be determined and cobalamin substitution should be started at an early stage to avoid potentially irreversible damage of the fetus.
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