Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review
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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.
KeywordsEpendymoma l-2-Hydroxyglutaric aciduria Malignant brain tumor Metabolic disorders
- 14.Lurie DI, Solca F, Fischer EH, Rubel EW (2000) Tyrosine phosphatase SHP-1 immunoreactivity increases in a subset of astrocytes following deafferentation of the chicken auditory brainstem. J Comp Neurol 421(2):199–214. doi:10.1002/(SICI)1096-9861(20000529)421:2<199::AID-CNE6>3.0.CO;2-GPubMedCrossRefGoogle Scholar