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Fourati H, Ellouze E, Ahmadi M, et al. MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open. 2016;3:245-250doi: 10.1016/j.ejro.2016.09.001.
Fourati, H., Ellouze, E., Ahmadi, M., Chaari, D., Kamoun, F., Hsairi, I., Triki, C., & Mnif, Z. (2016). MRI features in 17 patients with l2 hydroxyglutaric aciduria. European journal of radiology open, 3245-250. https://doi.org/10.1016/j.ejro.2016.09.001
Fourati, Héla, et al. "MRI features in 17 patients with l2 hydroxyglutaric aciduria." European journal of radiology open vol. 3 (2016): 245-250. doi: https://doi.org/10.1016/j.ejro.2016.09.001
Fourati H, Ellouze E, Ahmadi M, Chaari D, Kamoun F, Hsairi I, Triki C, Mnif Z. MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open. 2016 Sep 27;3:245-250. doi: 10.1016/j.ejro.2016.09.001. eCollection 2016. PMID: 27709120; PMCID: PMC5043405.
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Eur J Radiol Open. 2016 Sep 27;3:245-250. doi: 10.1016/j.ejro.2016.09.001. eCollection 2016.

MRI features in 17 patients with l2 hydroxyglutaric aciduria.

European journal of radiology open

Héla Fourati, Emna Ellouze, Mourad Ahmadi, Dhouha Chaari, Fatma Kamoun, Ines Hsairi, Chahnez Triki, Zeineb Mnif

Affiliations

  1. 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.
  2. 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.
  3. Radiology Departement Hedi Chaker Hospital, EL Ain Road, 3002 3089 Sfax, Tunisia.
  4. Neuropediaty Reaserch Unit (UR12ES16), Faculty of Medecine at Sfax university Tunisia, Boulevard Majida Boulila 3089 Sfax Tunisia.

PMID: 27709120 PMCID: PMC5043405 DOI: 10.1016/j.ejro.2016.09.001

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.

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

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