Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

We describe a young patient affected by vitamine E deficiency with mutation in the tocopherol tranfer protein aleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.