Vol 5, No 4 (2011): Iraninan Journal of Child Neurology; Autumn 2011  

You can see full article in below link:      

http://journals.sbmu.ac.ir/index.php/ijcn/article/view/2676/2384                                                                

 Mahmoud Reza ASHRAFI, Ali NIKKHAH, Massoud HOUSHMAND, Omid ARYANI

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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. 

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 Abstract

 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.

Keywords

Regression; leukodystrophy; L-2-Hydroxyglutaric aciduria