Epilepsy in inborn errors of metabolism: two cases with unusual presentation-Reference-Cited by-同舟云学术

Epilepsy in inborn errors of metabolism: two cases with unusual presentation

Published:2014-06 Issue:01 Volume:01 Page:043-046
ISSN:2213-6320
Container-title:International Journal of Epilepsy
language:en
Short-container-title:International Journal of Epilepsy

Author:

Sharma Suvasini¹,Jain Puneet¹²,Prabaharan Chellamuthu¹,Hemrom Jeedan¹,Kapoor Seema³,Kumari Chandrawati³,Kumar Atin⁴,Pemde Harish¹,Aneja Satinder¹

Affiliation:

1. Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi 110001, India

2. Division of Pediatric Neurology, Department of Pediatrics, BLK Super Speciality Hospital, Pusa Road, New Delhi 110005, India

3. Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi 110002, India

4. Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110016, India

Abstract

AbstractInherited metabolic disorders are a rare cause of epilepsy in children. We describe a case of Glutaric aciduria type 1 presenting with West syndrome and a case of intermittent Maple syrup urine disease presenting with epileptic encephalopathy. Early diagnosis and institution of appropriate therapy may be life saving and may improve the long term neurodevelopmental outcome in children with inherited metabolic disorders.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1016/j.ijep.2014.03.001.pdf

Reference12 articles.

1. Inborn errors of metabolism causing epilepsy;Rahman;Dev Med Child Neurol,2013

2. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations;Kyllerman;Mov Disord,1994

3. Glutaric aciduria type 1 presenting with epilepsy;McClelland;Dev Med Child Neurol,2009

4. Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I;Cerisola;Pediatr Neurol,2009

5. Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats;De Mello;Brain Res,2001