title: MRI features in 17 patients with l2 hydroxyglutaric aciduria.
abstract: l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 Duran et al. [2]. Brain magnetic resonance imaging (MRI) demonstrates nonspecific subcortical white matter (WM) loss, cerebellar atrophy and changes in dentate nuclei and putamen Steenweg et al. [3]. The diagnosis is highlighted by increased levels of l-2-HG in body fluids such as urine and cerebrospinal fluid. The purpose of this study is to retrospectively describe the brain MRI features in l-2-HG aciduria.
authors.affiliation: Radiology Departement Hedi Chaker Hospital, EL Ain Road, 3002 3089 Sfax, Tunisia; Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia.
authors.forename: Héla
authors.initials: H
authors.lastname: Fourati
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
authors.forename: Emna
authors.initials: E
authors.lastname: Ellouze
authors.affiliation: Radiology Departement Hedi Chaker Hospital, EL Ain Road, 3002 3089 Sfax, Tunisia.
authors.forename: Mourad
authors.initials: M
authors.lastname: Ahmadi
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia.
authors.forename: Dhouha
authors.initials: D
authors.lastname: Chaari
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
authors.forename: Fatma
authors.initials: F
authors.lastname: Kamoun
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
authors.forename: Ines
authors.initials: I
authors.lastname: Hsairi
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
authors.forename: Chahnez
authors.initials: C
authors.lastname: Triki
authors.affiliation: Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia; Pediatric Neurology department Hedi Chaker Hospital, EL Ain Road, 3089 Sfax, Tunisia.
authors.forename: Zeineb
authors.initials: Z
authors.lastname: Mnif
keywords: GM, Gray matter; Leukoencephalopathy; MRI; MRI, Magnetic resonance imaging; Spectroscopy; WM, white matter; WMA, white matter abnormalities; l-2-HG, l-2-Hydroxyglutaric; l-2-Hydroxyglutaric aciduria