L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report

L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report

L-2-Hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder. It is characterized by slow progressive neurological dysfunction with cerebellar ataxia, pyramidal and extrapyramidal signs, intellectual decline, and seizures. Herein, we report a case of a 7-year-old boy...

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Veröffentlicht in:Iranian journal of child neurology 2011, Vol.5 (4), p.37-38
Hauptverfasser: Ashrafi, M R, Nikkhah, A, Houshmand, M, Aryani, O
Format: Artikel
Sprache:eng
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Zusammenfassung:L-2-Hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder. It is characterized by slow progressive neurological dysfunction with cerebellar ataxia, pyramidal and extrapyramidal signs, intellectual decline, and seizures. Herein, we report a case of a 7-year-old boy from Tehran whose symptoms and signs indicated leukoencephalopathy with macrocephaly and motor delay.
ISSN:1735-4668