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

Meral Topçu, MD

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

Guliz Erdem, MD

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

Islil Saatçi, MD

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

Gökhan Aktan, MD

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

Ali Simsek, MD

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

Yavuz Renda, MD

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

Ruud B. H. Schutgens, PhD

Department of Pediatrics and Clinical Chemistry University Hospital

Ronald J. A. Wanders, PhD

Department of Pediatrics and Clinical Chemistry University Hospital

Cornelis Jacobs, PhD

Department of Pediatrics Free University, Amsterdam, The Netherlands

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).

Journal of Child Neurology, Vol. 11, No. 5, 373-377 (1996)
DOI: 10.1177/088307389601100505
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