|
L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case ReportKeywords: Regression , leukodystrophy , L-2-Hydroxyglutaric aciduria 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.
|