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• W1995015779 abstract "l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with generalized spike-and-wave discharges. The patient became seizure-free with a combination therapy of clonazepam, levetiracetam, and lamotrigine. Magnetic resonance imaging demonstrated subcortical white matter and basal ganglia alterations. Urinary organic acid analysis demonstrated increased excretion of l-2 hydroxyglutaric acid. Although rare, seizures can occur as a presenting sign of slowly progressing organic acidurias, e.g., l-2 hydroxyglutaric aciduria. Both eyelid myoclonia with absences and l-2 hydroxyglutaric aciduria comprise rare disorders. To our knowledge, this case report is the first of l-2 hydroxyglutaric aciduria presenting with symptomatic eyelid myoclonia with absences." @default.
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• W1995015779 date "2012-03-01" @default.
• W1995015779 modified "2023-09-30" @default.
• W1995015779 title "Eyelid Myoclonia With Absence Seizures in a Child With l-2 Hydroxyglutaric Aciduria: Findings of Magnetic Resonance Imaging" @default.
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• W1995015779 doi "https://doi.org/10.1016/j.pediatrneurol.2012.01.008" @default.
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