کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4229681 | 1610061 | 2016 | 6 صفحه PDF | دانلود رایگان |
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.
Journal: European Journal of Radiology Open - Volume 3, 2016, Pages 245–250