Diaphragmatic palsy in a 10-month-old boy with infantile tremor syndrome causing respiratory failure with full response to vitamin B12 therapy.

Infantile tremor syndrome (ITS) owing to vitamin B12 deficiency usually presents with tremors, anaemia, pigmentary skin changes, neuro-regression and hypotonia. A 10-month-old boy with ITS and respiratory failure owing to bilateral diaphragmatic palsy who responded to high parenteral doses of vitamin B12 is presented. As far as we are aware, this is the first report of diaphragmatic palsy associated with ITS and vitamin B12 deficiency.