Infantile spasms (West syndrome) in children with inborn errors of metabolism: a review of the literature

Abstract

West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. More than 25 inborn errors of metabolism have been considered etiologic or predisposing factors for infantile spasms. This is a review of the literature on reported cases of children diagnosed with a metabolic disease who developed infantile spasms. This article presents in brief the most frequent inborn errors of metabolism that have been associated with West syndrome and also illustrates the importance of screening for inborn errors of metabolism in infantile spasms.