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

作者信息

Topçu M, Erdem G, Saatçi I, Aktan G, Simşek A, Renda Y, Schutgens R B, Wanders R J, Jacobs C

机构信息

Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey.

出版信息

J Child Neurol. 1996 Sep;11(5):373-7. doi: 10.1177/088307389601100505.

DOI:10.1177/088307389601100505
PMID:8877604
Abstract

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.

摘要

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