L-2-hydroxyglutaric aciduria: MRI in seven cases

被引：47

作者：

D'Incerti, L

Farina, L

Moroni, I

Uziel, G

Savoiardo, M

机构：

[1] Ist Nazl Neurol C Besta, Dept Neuroradiol, I-20133 Milan, Italy

[2] Ist Nazl Neurol C Besta, Dept Child Neurol, I-20133 Milan, Italy

来源：

NEURORADIOLOGY | 1998年 / 40卷 / 11期

关键词：

L-2-hydroxyglutaric aciduria; brain; magnetic resonance imaging;

D O I：

10.1007/s002340050673

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The MRI findings in 7 patients with L-2-Hydroxyglutaric aciduria (L-2-OHG aciduria) are described and compared with previous neuroradiological reports and the only three published pathological cases. Signal abnormalities involved peripheral subcortical white matter, basal ganglia and dentate nuclei. Cerebellar atrophy was present. Although similar appearances may be seen in other metabolic disorders, the distribution of signal abnormalities in L-2-OHG aciduria is highly characteristic and may suggest the correct diagnosis.

引用

页码：727 / 733

页数：7

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