%0 Journal Article
%T L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report
%A Mahmoud Reza ASHRAFI
%A Ali NIKKHAH
%A Massoud HOUSHMAND
%A Omid ARYANI
%J Iranian Journal of Child Neurology
%D 2011
%I Iranian Child Neurology Society
%X 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.
%K Regression
%K leukodystrophy
%K L-2-Hydroxyglutaric aciduria
%U http://journals.sbmu.ac.ir/ijcn/article/view/2676/2384