Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease-Reference-Cited by-同舟云学术

Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease

Published:1996-09 Issue:5 Volume:11 Page:373-377
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Topçu Meral¹,Erdem Guliz²,Saatçi Islil³,Aktan Gökhan¹,Simsek Ali²,Renda Yavuz¹,Schutgens Ruud B. H.⁴,Wanders Ronald J. A.⁴,Jacobs Cornelis⁵

Affiliation:

1. Pediatric Neurology Unit, Hacettepe University School of Medical, Ankara, Turkey

2. Department of Pediatrics Hacettepe University School of Medicine, Ankara, Turkey

3. Department of Radiology, Hacettepe University School of Medical, Ankara, Turkey

4. Department of Pediatrics and Clinical Chemistry University Hospital

5. Department of Pediatrics Free University, Amsterdam, The Netherlands

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. (J Child Neurol 1996;11:373-377).

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/088307389601100505

Reference13 articles.

1. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

2. l-2-Hydroxyglutaric aciduria: Three Australian cases

3. L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

4. Canavan disease: Biochemical and molecular studies

5. l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

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