Journal of Neuro-Oncology

, Volume 91, Issue 2, pp 233–236 | Cite as

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

Clinical study - patient study


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.


Ependymoma l-2-Hydroxyglutaric aciduria Malignant brain tumor Metabolic disorders 


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© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  1. 1.Department of Radiation Oncology, Cancer Institute, Imam Khomeini Hospital ComplexTehran University of Medical SciencesTehranIran
  2. 2.Research Development Center, Imam Khomeini Hospital ComplexTehran University of Medical SciencesTehranIran

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