L-2-hydroxyglutaric aciduria and brain malignant tumors - A predisposing condition?
L-2-hydroxyglutaric aciduria and brain malignant tumors - A predisposing condition?
复制标题
DOI：
10.1212/01.wnl.0000125335.21381.87
复制
发表时间：
2004-05-25
期刊：
影响因子：
9.9
通讯作者：
Uziel, G
中科院分区：
文献类型：
--
作者：
Moroni, I;Bugiani, M;Uziel, G
摘要l -2-羟基戊二酸尿症是一种罕见的代谢性脑病，MRI表现为皮质下脑白质病变。诊断依赖于检测体液中l -2-羟基戊二酸的异常积累。作者报告了四名在疾病过程中发展为恶性脑肿瘤的患者。这一关联表明l -2-羟基戊二酸尿可能在脑肿瘤发生易感中起作用。
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of L-2-hydroxyglutaric acid in body fluids. The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis.