Purpose of review: This article reviews the most significant advances in the field of infantile spasm during the past year, with emphasis on best practise for treatment, and on some new etiological genetic and metabolic causes for the spasms, and new advances in the knowledge of tuberous sclerosis.
Recent findings: Up-to-date information comparing corticotrophin, oral steroids and vigabatrin shows that hormonal treatment is the most effective therapy in the short term. In a recent randomized trial, large doses of prednisolone were as effective as corticotrophin. There are insufficient data to recommend any treatment schedule for infantile spasms. Vigabatrin is the choice for infants with tuberous sclerosis. Visual field defects in (older) children seem to be as common as in adults. In animals, vigabatrin can induce apoptosis of the neurons in the developing brain. New rare factors associated with infantile spasms are mitochondrial diseases, mutations of the Aristales-related homeobax gene and posterior quadrantic dysplasia syndrome. The outcome in children with tuberous sclerosis and infantile spasms is better understood.
Summary: The accurate determination of etiology is now becoming increasingly possible. There is still a lack of consensus about the treatment of first choice for infantile spasms. However, recent data show that hormonal treatment is the most effective therapy in the short term. Frequency of visual field defects in children treated with vigabatrin should be studied in addition to the long-term outcome in general. Advances in our understanding of brain maturation, etiologies, mechanisms and genetics underlying catastrophic epilepsy may facilitate more effective pharmacologic interventions.