Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease

被引：42

作者：

Topcu, M

Erdem, G

Saatci, I

Aktan, G

Simsek, A

Renda, Y

Schutgens, RBH

Wanders, RJA

Jacobs, C

机构：

[1] HACETTEPE UNIV,SCH MED,DEPT RADIOL,TR-06100 ANKARA,TURKEY

[2] HACETTEPE UNIV,SCH MED,DEPT PEDIAT,TR-06100 ANKARA,TURKEY

[3] UNIV HOSP AMSTERDAM,DEPT PEDIAT & CLIN CHEM,AMSTERDAM,NETHERLANDS

[4] FREE UNIV AMSTERDAM,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF CHILD NEUROLOGY | 1996年 / 11卷 / 05期

关键词：

D O I：

10.1177/088307389601100505

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease, The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases, Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized, Both diseases are characterized by predominant subcortical white-matter involvement and dentate nuclei lesions with variable basal ganglia involvement, Canavan disease differs from L-2-hydroxyglutaric acidemia by the presence of typical brainstem involvement.

引用

页码：373 / 377

页数：5

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