Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
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.
Nassogne
M
M
Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200, Bruxelles, Belgium.
Henrot
B
B
Aubert
G
G
Bonnier
C
C
Marie
S
S
Saint-Martin
C
C
Van den Berghe
G
G
Sébire
G
G
Vincent
M
M
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
D000264:Adenylosuccinate Lyase