Abstract
Background: Vitamin B12 deficiency in infancy is a cause of a preventable neuroregression and complex neurological manifestations.
Case report: An 18 month male infant was admitted from an OP Community Paediatrician's clinic for gross pallor The parents reported concerns regarding the darkening of his skin, losing motor skills and apathy going back 3-4 months He was still exclusively breast fed although weaning was attempted on various occasions He had gross pale, puffy hands and feet, hyper-pigmentation, tremors, apathy, variable tone and was developmentally behind Investigations revealed pancytopaenia, low vitamin B12, normal ferritin and folate and hypersegmented neutrophils and grossly abnormal MRI His mother was vegetarian and had low B12 yet normal haematology He had a very stormy course during treatment, developed severe autonomic dysfunction with bradycardia, hypertension, drooling and unsafe swallow on initiating treatment and had to be transferred to PICU He eventually demonstarted increasing attention and motor abilities and discharged with follow up in clinic and CDC.
Discussion: There are various reports in literature which describe the many different neurologic manifestations in deficiency and during treatment in an exclusively breast fed infant with maternal B12 deficiency although not all of these are described in a single case.
Conclusions: Infantile B12 deficiency from maternal deficiency can cause permanent neurological damage There should be better awareness during the antenatal period and in the prime care to avoid neonatal and infantile B12 deficiency Can selective neonatal screening prevent the catastrophy? Treatment can result in paradoxical deterioration and therefore needs close monitoring.
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Gandhi, D., Jayatunga, R. 660 Preventable Neuroregression-Case Report and Literature Review of Vitamin B12 Deficiency. Pediatr Res 68 (Suppl 1), 337 (2010). https://doi.org/10.1203/00006450-201011001-00660
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DOI: https://doi.org/10.1203/00006450-201011001-00660