title: L-2 hydroxyglutaric aciduria presenting with status epilepticus.
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.
authors.affiliation: Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey. dr.sedatisikay@mynet.com
authors.forename: Sedat
authors.initials: S
authors.lastname: Işikay
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000188:drug therapy; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D003937:Diagnosis, Differential; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D012256:Riboflavin / Q000627:therapeutic use; D013226:Status Epilepticus / Q000150:complications / Q000175:diagnosis*; D016896:Treatment Outcome
chemical_list: D004044:Dietary Proteins; D002331:Carnitine; D012256:Riboflavin