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DOI: 10.3233/JPN-2009-0322
Recurrent febrile encephalopathy: A presentation form of glutaric aciduria type 1
Verantwortlicher Herausgeber dieser Rubrik:
Publikationsverlauf
29. April 2008
06. März 2009
Publikationsdatum:
30. Juli 2015 (online)

Abstract
A 22-month-old male child presented with recurrent febrile encephalopathy with regression of developmental milestones from 6-month of age. He had upper limb dystonia and startle response for which he received sodium valproate. He had compensated metabolic acidosis. Cranial magnetic resonance imaging revealed widening of the Sylvian fissure, fronto-temporal atrophy and T2 hyperintensity in globus pallidus, putamen and cerebellum. His urinary glutaryl carnitine was high (3.17 μmol/L) and free urine carnitine low (6.63 μmol/L). Glutaric aciduria should be considered in children with recurrent febrile encephalopathy and in them valproate should be avoided. Characteristic magnetic resonance imaging feature is helpful.