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  • Title: L-2 hydroxyglutaric aciduria presenting with status epilepticus.
    Author: Işikay S.
    Journal: BMJ Case Rep; 2013 Jun 07; 2013():. PubMed ID: 23749865.
    Abstract:
    L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-2 hydroxyglutaric acid in urine samples. We report on an 11-year-old patient who presented to the emergency department with a generalised status epilepticus, which was subsequently diagnosed as L-2 hydroxyglutaric aciduria owing to rare and different clinical presentation. Brain MRI showed peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei, In conclusion, L-2 hydroxyglutaric aciduria should be considered in cases of epileptic seizures such as status epilepticus, cerebellar signs and progressive neurological course.
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