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[Leber遗传性视神经病变急性期T2加权磁共振成像上的视神经高信号病变:一例报告]

[Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report].

作者信息

Honda Hiroyuki, Tsujihata Mitsuhiro, Ochi Makoto, Satoh Akira, Tomita Itsurou, Fujikawa Azusa

机构信息

Division of Neurology, Nagasaki Kita Hospital.

出版信息

Rinsho Shinkeigaku. 2006 Apr;46(4):294-6.

Abstract

A 46-year-old man was admitted to our hospital for acute onset, bilateral visual disturbance. Neither papilledema nor optic atrophy was found. Brain MRI revealed a hyperintense lesion in the optic chiasm on T2-weighted imaging. No enhancement was detected in gadolinium-enhanced MRIs. Based on these results, a diagnosis of retrobulbar neuritis was made, and steroid pulse therapy was performed. However, the visual acuity did not improve at all. We therefore suspected Leber's hereditary optic neuropathy (LHON) and thus performed a PCR analysis of the mitochondrial DNA. It revealed a G to A transition at nucleotide position 11778 of the mitochondrial DNA, which has been frequently observed in LHON patients in Japan. Based on the above findings, when middle-aged patients present an acute onset of visual loss, LHON should be included in the differential diagnosis.

摘要

一名46岁男性因急性双侧视力障碍入院。未发现视乳头水肿或视神经萎缩。脑部磁共振成像(MRI)显示在T2加权成像上视交叉有高信号病变。钆增强MRI未检测到强化。基于这些结果,诊断为球后视神经炎,并进行了类固醇脉冲治疗。然而,视力完全没有改善。因此,我们怀疑是Leber遗传性视神经病变(LHON),于是对线粒体DNA进行了聚合酶链反应(PCR)分析。结果显示线粒体DNA第11778位核苷酸由G突变为A,这在日本的LHON患者中经常观察到。基于上述发现,当中年患者出现急性视力丧失时,鉴别诊断应包括LHON。

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