期刊
JOURNAL OF NEURO-ONCOLOGY
卷 91, 期 2, 页码 233-236出版社
SPRINGER
DOI: 10.1007/s11060-008-9706-2
关键词
Ependymoma; l-2-Hydroxyglutaric aciduria; Malignant brain tumor; Metabolic disorders
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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