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

Brain & development | Sep 1, 2000

http://www.ncbi.nlm.nih.gov/pubmed/11042421

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.

Pubmed ID: 11042421 RIS Download

Mesh terms: Adenylosuccinate Lyase | Age of Onset | Brain | Brain Diseases, Metabolic, Inborn | Child, Preschool | Disease Progression | Electroencephalography | Epilepsy | Female | Humans | Magnetic Resonance Imaging | Microcephaly