Title of article
L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report
Author/Authors
ASHRAFI، Mahmoud Reza نويسنده Professor of Pediatric Neurology, Growth and Development Research Center, Department of Pediatric Neurology, , Te , , Nikkhah، Ali نويسنده MD,Pediatric Neurologist, Department of Pediatric Neurology, Children´s Medical Center, Tehran University of Medical Sciences, Tehran, Iran , , Houshmand، Massoud نويسنده , , ARYANI، Omid نويسنده Senior Researcher, Molecular Genetics, Department of Medical Genetics, Special Medical Center, Tehran, Iran ,
Issue Information
فصلنامه با شماره پیاپی 0 سال 2011
Pages
2
From page
37
To page
38
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.
Journal title
Iranian Journal of Child Neurology (IJCN)
Serial Year
2011
Journal title
Iranian Journal of Child Neurology (IJCN)
Record number
669096
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