title: Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
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.
authors.affiliation: Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200, Bruxelles, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Nassogne
authors.forename: B
authors.initials: B
authors.lastname: Henrot
authors.forename: G
authors.initials: G
authors.lastname: Aubert
authors.forename: C
authors.initials: C
authors.lastname: Bonnier
authors.forename: S
authors.initials: S
authors.lastname: Marie
authors.forename: C
authors.initials: C
authors.lastname: Saint-Martin
authors.forename: G
authors.initials: G
authors.lastname: Van den Berghe
authors.forename: G
authors.initials: G
authors.lastname: Sébire
authors.forename: M
authors.initials: M
authors.lastname: Vincent
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D017668:Age of Onset; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D002675:Child, Preschool; D018450:Disease Progression; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology* / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000209:etiology* / Q000378:metabolism* / Q000473:pathology
chemical_list: D000264:Adenylosuccinate Lyase