| Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report. | |
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MedLine Citation:
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PMID: 18408399 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Vembu Periasamy; Mohd Rudwan; Girish Yadav; Riyadh A Khan |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-04-10 |
Journal Detail:
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Title: Medical principles and practice : international journal of the Kuwait University, Health Science Centre Volume: 17 ISSN: 1423-0151 ISO Abbreviation: Med Princ Pract Publication Date: 2008 |
Date Detail:
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Created Date: 2008-04-14 Completed Date: 2008-06-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8901334 Medline TA: Med Princ Pract Country: Switzerland |
Other Details:
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Languages: eng Pagination: 258-61 Citation Subset: IM |
Copyright Information:
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(c) 2008 S. Karger AG, Basel |
Affiliation:
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Department of Neurology, Ibn Sina Hospital, Kuwait. drperiasamy06@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Alcohol Oxidoreductases / urine* Anticonvulsants / therapeutic use Biological Markers / urine Brain Diseases, Metabolic / complications*, diagnosis*, physiopathology, urine Cerebrospinal Fluid Diagnosis, Differential Electroencephalography Epilepsy, Tonic-Clonic / drug therapy, etiology*, physiopathology, urine Gas Chromatography-Mass Spectrometry Humans Lysine / metabolism* Magnetic Resonance Imaging Male Psychological Tests Psychometrics Risk Factors |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 0/Biological Markers; 56-87-1/Lysine; EC 1.1.-/Alcohol Oxidoreductases; EC 1.1.99.2/L2HGDH protein, human |
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