title: L-2-Hydroxyglutaric aciduria presenting as status epilepticus.
abstract: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with a slowly progressive course regarding CNS involvement. We present a 13.5-year-old female patient who presented at the Emergency Department with a generalized status epilepticus, which promptly responded to intravenous phenytoin. CT and MRI demonstrated subcortical white matter alterations. The neurological examination revealed mild mental retardation, macrocephaly and ataxic gait with cerebellar signs. Repeated urinary organic acid analysis demonstrated increased excretion of 2-hydroxyglutaric acid which was of the L-configuration. The constellation of macrocephaly in a patient with mental retardation, cerebellar tract involvement and subcortical white matter signal alterations on MRI should alert the physician to the possibility of L-2-HGA. Although rare, epileptic seizures or even status epilepticus can be among the presenting symptoms in organic acidurias with a slow course, such as L-2-HGA.
authors.affiliation: Developmental Center "A. Fokas", 1st Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr
authors.forename: D I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: A
authors.initials: A
authors.lastname: Sewell
authors.forename: P
authors.initials: P
authors.lastname: Savvopoulou-Augoustidou
authors.forename: N
authors.initials: N
authors.lastname: Gombakis
authors.forename: G
authors.initials: G
authors.lastname: Katzos
mesh_terms: D000293:Adolescent; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine*; D013226:Status Epilepticus / Q000175:diagnosis / Q000652:urine*; D014057:Tomography, X-Ray Computed
chemical_list: D005977:Glutarates; D006880:Hydroxy Acids; C035736:glutaric acid