Recurrent febrile encephalopathy: A presentation form of glutaric aciduria type 1

摘要

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 /imol/L) and free urine carnitine low (6.63 /