Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly
(2000) Brain & Development — Vol. 22, n° 6, p. 383-386 (2000)
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- 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. (C) 2000 Elsevier Science B.V. All rights reserved.
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Citations
Nassogne, M.-C., Henrot, B., Aubert, G., Bonnier, C., Marie, S., Saint-Martin, C., Van den Berghe, G., Sebire, G., & Vincent, M.-F. (2000). Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain & Development, 22(6), 383-386. https://doi.org/10.1016/S0387-7604(00)00154-6 (Original work published 2000)