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Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome.

Abstract
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.
AuthorsKousuke Nakano, Katsuhiro Kobayashi, Yoshiyuki Okano, Kazuyoshi Aso, Yoko Ohtsuka
JournalPediatric neurology (Pediatr Neurol) Vol. 47 Issue 2 Pg. 119-22 (Aug 2012) ISSN: 1873-5150 [Electronic] United States
PMID22759688 (Publication Type: Case Reports, Journal Article, Review)
CopyrightCopyright © 2012 Elsevier Inc. All rights reserved.
Topics
  • Child
  • Epilepsy, Absence (complications, diagnosis, genetics)
  • Female
  • Humans
  • Hyperinsulinism (complications, diagnosis, genetics)
  • Hypoglycemia (complications, diagnosis, genetics)
  • Myoclonus (complications, diagnosis, genetics)

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