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

Article type: Research Article

Authors: Kalita, Jayantee | Kate, Mahesh P. | Misra, Usha K.

Affiliations: Department of Neurology, Sanjay Gandhi PGIMS, Lucknow, India

Note: [] Correspondence: Dr. Jayantee Kalita, Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareily Road, Lucknow-226014, India. Tel.: +91 522 2668004; Fax: +91 522 2668017; E-mail: jayanteek@ yahoo.com

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.

Keywords: Glutaric aciduria, MRI, dystonia, valproate

DOI: 10.3233/JPN-2009-0322

Journal: Journal of Pediatric Neurology, vol. 7, no. 4, pp. 393-395, 2009