L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.
BACKGROUND
L-2-hydroxyglutaric aciduria is a rare metabolic disorder with quite typical radiological abnormalities and various clinical symptoms.


METHODS
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).


CONCLUSIONS
This case highlights the movement disorder onset and radiological aspects that should indicate the L-2-hydroxyglutaric aciduria diagnosis.
Department of Neurology, hôpital civil, 1, place de l'Hôpital, 67000 Strasbourg, France. christophe.marcel@chru-strasbourg.fr
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C
Marcel
M
M
Mallaret
O
O
Lagha-Boukbiza
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S
Kremer
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A
Echaniz-Laguna
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C
Tranchant
D000429:Alcohol Oxidoreductases / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000652:urine; D003937:Diagnosis, Differential; D018450:Disease Progression; D020820:Dyskinesias / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000652:urine; D005145:Face; D005260:Female; D005977:Glutarates / Q000652:urine; D006801:Humans; D020125:Mutation, Missense; D055815:Young Adult
D005977:Glutarates; C019417:alpha-hydroxyglutarate; D000429:Alcohol Oxidoreductases; C023858:2-hydroxyglutarate dehydrogenase