L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report
Iranian Journal of Child Neurology,
Vol. 5 No. 4 (2011),
3 December 2011
How to Cite this Article: Ashrafi MR, Nikkhah A, Houshmand M, Aryani O. L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A CaseReport Iranian Journal of Child Neurology 2011;5(4):37-38.
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.
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- L-2-Hydroxyglutaric aciduria
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