Published in:
01-01-2009 | Clinical study - patient study
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review
Authors:
Mahdi Aghili, Fatemeh Zahedi, Elham Rafiee
Published in:
Journal of Neuro-Oncology
|
Issue 2/2009
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Abstract
l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive inherited encephalopathy. This inborn error, characterized by psychomotor retardation, progressive ataxia and typical magnetic resonance imaging findings, presents in early infancy. To make a definitive diagnosis, an anomalous accumulation of l-2-hydroxyglutaric acid must be detected in body fluids. Here, we present a 17-year-old boy with l-2-OHGA who developed an anaplastic ependymoma during the course of this disease. We also present a literature review including seven other patients who developed malignant brain tumors during the course of l-2-OHGA. This correlation may indicate a possible increased risk of brain tumors among patients with l-2-hydroxyglutaric aciduria.