Format

Send to

Choose Destination
Med Princ Pract. 2008;17(3):258-61. doi: 10.1159/000117804. Epub 2008 Apr 10.

Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report.

Author information

1
Department of Neurology, Ibn Sina Hospital, Kuwait. drperiasamy06@yahoo.com

Abstract

OBJECTIVE:

To report the importance of a rare organic acid metabolic disorder, L-2-hydroxyglutaric aciduria, and its characteristic neuroimaging cerebral white matter abnormalities in a case of epilepsy.

SUBJECT AND METHODS:

A 19-year-old male presented with an 11-year history consisting of school failures, intellectual deterioration and generalized tonic-clonic convulsions.

RESULTS:

Neurological examination showed mental subnormality, mild dysarthria and bilateral pyramidal signs. Computed tomography and magnetic resonance imaging (MRI) of the brain showed characteristic white matter lesions, suggestive of L-2-hydroxyglutaric aciduria. The diagnosis of this disease was confirmed by elevated urinary concentrations of L-2-hydroxyglutaric acid. The epilepsy was partially controlled with antiepileptic drugs.

CONCLUSION:

This report indicates the importance of routine examination of urinary organic acids in children and young adults presenting with chronic encephalopathy and epilepsy with characteristic MRI white matter lesions. L-2-hydroxyglutaric aciduria should be considered as one of the differential diagnoses of epilepsy.

PMID:
18408399
DOI:
10.1159/000117804
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for S. Karger AG, Basel, Switzerland
Loading ...
Support Center