MRI features in 17 patients with l2 hydroxyglutaric aciduria

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

European Journal of Radiology Open(2016)

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摘要
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.
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关键词
l-2-HG,MRI,WM,WMA,GM
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