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.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Mete A,Isikay S,Sirikci A,Ozkur A,Bayram Mdoi
10.1016/j.pediatrneurol.2012.01.008subject
Has Abstractpub_date
2012-03-01 00:00:00pages
195-7issue
3eissn
0887-8994issn
1873-5150pii
S0887-8994(12)00016-1journal_volume
46pub_type
杂志文章abstract：:Melioidosis from Pseudomonas pseudomallei is common in endemic areas (particularly southeast Asia) and is being recognized with increasing frequency in developed countries. Central nervous system involvement is a rare complication with a high mortality. A patient with multiple cerebral abscesses caused by this organis...
journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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