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

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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.

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Authors and Affiliations

  1. Department of Radiation Oncology, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Keshavarz Boulevard, P.O. Box 13145-158, Tehran, Iran

    Mahdi Aghili & Fatemeh Zahedi

  2. Research Development Center, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran

    Elham Rafiee

Authors
  1. Mahdi Aghili
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  2. Fatemeh Zahedi
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  3. Elham Rafiee
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Correspondence to Mahdi Aghili.

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Aghili, M., Zahedi, F. & Rafiee, E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 91, 233–236 (2009). https://doi.org/10.1007/s11060-008-9706-2

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  • DOI: https://doi.org/10.1007/s11060-008-9706-2

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