Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly

Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (review ed in J Inher Metab Dis 20;1997:193). The cardinal features are variable ps ychomotor delay often accompanied by epilepsy and autistic features. Diagno sis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acqu ired microcephaly and severe psychomotor retardation, as the most prominent symptoms. (C) 2000 Elsevier Science B.V. All rights reserved.