Aug, 2012
Intractable Absence Seizures in Hyperinsulinism-Hyperammonemia Syndrome
PEDIATRIC NEUROLOGY
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- 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
- ID information
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- DOI : 10.1016/j.pediatrneurol.2012.04.019
- ISSN : 0887-8994
- eISSN : 1873-5150
- Web of Science ID : WOS:000306582900007