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    Brain Dev. 2000 Sep;22(6):383-6.

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

    Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sébire G, Vincent M.

    Source

    Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200, Bruxelles, Belgium.

    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.

    PMID:
    11042421
    [PubMed - indexed for MEDLINE]

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