Case Study: A Baby with Severe Vitamin B12 Deficiency

A nine month old girl was admitted to the Metabolic Unit at Evelina Children‟s Hospital for the assessment of developmental delay, abnormal movements (head drops forward and arms move up) and macrocytic anaemia with massive excretion of urinary methylmalonic acid. Further tests revealed severe vitamin B₁₂ deficiency. The mother was also diagnosed with vitamin B₁₂ as well as iron deficiency. The girl had been exclusively breast fed from birth. The introduction of solids at 5 months was unsuccessful because of feeding difficulty.

Maternal B₁₂ deficiency, most likely masked by iron deficiency and a normal haemoglobin count on ante natal screening, led to severe B₁₂ deficiency in the baby. Exclusive breast feeding and subsequent failure to wean exacerbated the B₁₂ deficiency leading to profound functional deficiency of B₁₂. Appropriate clinical treatment was given and remarkable improvements in the baby‟s health were observed.

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For further information contact

Dr Agata Sobczyńska-Malefora on 020 7188 9543 or at agata [dot] malefora [at] viapath [dot] co [dot] uk