MRI features in 17 patients with l2 hydroxyglutaric aciduria. (2016)

• Record Type: Journal Article
• Authors: Fourati, Héla; Ellouze, Emna; Ahmadi, Mourad; Chaari, Dhouha; Kamoun, Fatma; Hsairi, Ines; Triki, Chahnez; Mnif, Zeineb
• Is Part Of: European journal of radiology open. Volume 3(2016)
• Page Start: 245
• Page End: 250
• Publication Date: 2016
• Subjects: l-2-HG l-2-Hydroxyglutaric -- MRI Magnetic resonance imaging -- WM white matter -- WMA white matter abnormalities -- GM Gray matter; l-2-Hydroxyglutaric aciduria -- Leukoencephalopathy -- MRI -- Spectroscopy; Medical radiology -- Periodicals; 616.075705
• DOI: 10.1016/j.ejro.2016.09.001
• Languages: English
• ISSNs: 2352-0477

Abstract

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.