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Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report.
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- Author(s): De las Heras, Javier; Garin, Intza; Perez de Nanclares, Guiomar; Aguayo, Anibal; Rica, Itxaso; Castaño, Luis; Vela, Amaia
- Source:
Journal of Pediatric Endocrinology & Metabolism; Aug2010, Vol. 23 Issue 8, p827-830, 4p, 2 Charts
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- Abstract:
The article describes the familial case of a two-year-old child and her 32-year-old mother who were diagnosed with hyperinsulinism-hyperammonemia (HI/HA). Both the child and her mother suffered from tonic-clonic seizures since infancy, diagnosed with epilepsy and were given sodium valproate. The medical history of each patient is described. The authors concluded that HI/HA should be considered in children or adults with seizures/epilepsy and hyperammonemia.
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