Neurodevelopmental and vitamin B12 status of patients treated for neurocutaneous infantile vitamin B12 deficiency syndrome: a follow up study

BACKGROUND: Neurocutaneous infantile vitamin B12 deficiency syndrome (NIB) or Infantile tremor syndrome (ITS) is a common yet under-recognised cause of potentially preventable neurodevelopmental impairment in infants. Although haematological recovery is rapid with treatment, the extent of long-term neurological recovery remains uncertain. METHODS: In this ambispective study from a tertiary care centre in North India, 52 children with NIB (low serum vitamin B12 levels along with neurological features) aged 3 months to 2 years were followed up after one year of treatment. All children underwent neurodevelopment screening using the Developmental Assessment Scale for Indian Children (DASII), with additional autism screening using the Modified Checklist for Autism in Toddlers (M-CHAT) and blood sampling for serum vitamin B12 levels. RESULTS: The biochemical recovery was universal among all children; however, neurodevelopmental recovery was strikingly poor. Only 19.2% of children achieved normal motor developmental quotient (DQ), and 11.5% achieved normal mental DQ. Twenty-five per cent of children had a moderate risk for autism on M-CHAT. Factors associated with poorer mental outcome (DQ < 50) were very low serum vitamin B12 levels at baseline, higher age at the time of presentation, prolonged exclusive breastfeeding, severe anaemia, involvement of cognitive domains at presentation, and autism risk. CONCLUSIONS: Neurodevelopmental delay persists in a significant proportion of NIB patients despite correction of vitamin B12 deficiency. The present study emphasises the critical need for early diagnosis, timely intervention, and long-term neurodevelopmental surveillance.