Misc.

Aug, 2012

Intractable Absence Seizures in Hyperinsulinism-Hyperammonemia Syndrome

PEDIATRIC NEUROLOGY
  • Kousuke Nakano
  • ,
  • Katsuhiro Kobayashi
  • ,
  • Yoshiyuki Okano
  • ,
  • Kazuyoshi Aso
  • ,
  • Yoko Ohtsuka

Volume
47
Number
2
First page
119
Last page
122
Language
English
Publishing type
DOI
10.1016/j.pediatrneurol.2012.04.019
Publisher
ELSEVIER SCIENCE INC

A girl with intractable absence seizures and facial myoclonia at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral L-leucine loading test. Her seizures occurred even during periods of relatively normal blood glucose levels, and were completely suppressed by diazoxide treatment only. Her diagnosis of hyperinsulinism-hyperammonemia syndrome was confirmed by a loss of sensitivity of glutamate dehydrogenase for guanosine 5'-triphosphate. Genetic studies identified the I444M mutation in the GLUD1 gene, which encodes glutamate dehydrogenase. This case illustrates the complex relationship between seizures and hypoglycemia in hyperinsulinism-hyperammonemia syndrome that can create diagnostic difficulties. The possibility of hyperinsulinism-hyperammonemia syndrome should be considered in patients with refractory absence seizures with myoclonia. (C) 2012 Elsevier Inc. All rights reserved.

Link information
DOI
https://doi.org/10.1016/j.pediatrneurol.2012.04.019
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000306582900007&DestApp=WOS_CPL
ID information
  • DOI : 10.1016/j.pediatrneurol.2012.04.019
  • ISSN : 0887-8994
  • eISSN : 1873-5150
  • Web of Science ID : WOS:000306582900007

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