We are analyzing https://link.springer.com/article/10.1007/s11060-008-9706-2.

Title:
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review | Journal of Neuro-Oncology
Description:
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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Keywords {🔍}

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Topics {✒️}

month download article/chapter malignant brain tumor brain malignant tumors literature review including magnetic resonance imaging full article pdf privacy choices/manage cookies l-2-hydroxyglutaric aciduria inherited neurometabolic disease neuro-oncology aims l-2-hydroxyglutaric acid l-2-hydroxyglutaric acidemia severe neurodegenerative disease mahdi aghili article aghili european economic area anaplastic ependymoma frameshift l2hgdh mutation van gennip ah spinal canal stenosis jaffrain-rea ml chicken auditory brainstem conditions privacy policy neoplastic pituitary cells literature review neurol med chir accepting optional cookies journal finder publish article journal check access instant access hydroxyglutaric aciduria brain tumors author correspondence article log portuguese pediatric patients pediatric patient progressive ataxia brain dev 19 cancer institute article cite related subjects privacy policy zahedi personal data l-2-ohga neuroradiological findings books a case report radiation oncology

Questions {❓}

Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) l-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
Moroni I, Bugiani M, D’Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G (2004) l-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

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