title: Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.
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.
authors.affiliation: Department of Radiology, School of Medicine, Gaziantep University, Gaziantep, Turkey. dr.meteahmet@gmail.com
authors.forename: Ahmet
authors.initials: A
authors.lastname: Mete
authors.forename: Sedat
authors.initials: S
authors.lastname: Isikay
authors.forename: Akif
authors.initials: A
authors.lastname: Sirikci
authors.forename: Ayhan
authors.initials: A
authors.lastname: Ozkur
authors.forename: Metin
authors.initials: M
authors.lastname: Bayram
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000473:pathology*; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000150:complications / Q000473:pathology*
chemical_list: D000927:Anticonvulsants