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Posted July 12, 2012 by Marcel C, Mallaret M, Lagha-Boukbiza O, Kremer S, Echaniz-Laguna A, Tranchant C in

L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.

L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.

Rev Neurol (Paris). 2012 Feb;168(2):187-91

Authors: Marcel C, Mallaret M, Lagha-Boukbiza O, Kremer S, Echaniz-Laguna A, Tranchant C

Abstract

INTRODUCTION: L-2-hydroxyglutaric aciduria is a rare metabolic disorder with quite typical radiological abnormalities and various clinical symptoms.

OBSERVATION: A 19-year-old girl presented with ataxia, facial dyskinesia, and mild cognitive impairment. Cerebral magnetic resonance imaging demonstrated subcortical white matter T2 abnormalities and a suggestive rim hyperintensity around the caudate nuclei and the putamen. Diagnosis was confirmed by increased 2-hydroxyglutaric acid in urine and a genetic study (Gly260Ala mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene).

DISCUSSION: This case highlights the movement disorder onset and radiological aspects that should indicate the L-2-hydroxyglutaric aciduria diagnosis.

PMID: 22030381 [PubMed - indexed for MEDLINE]