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

Service de Radiologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200 Bruxelles, Belgium
Brain and Development (Impact Factor: 1.54). 10/2000; 22(6):383-386. DOI: 10.1016/S0387-7604(00)00154-6

ABSTRACT Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997:193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic features. Diagnosis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acquired microcephaly and severe psychomotor retardation, as the most prominent symptoms.

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