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 ,
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.
