Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
J Neuroophthalmol. 2010 Mar;30(1):49-53. doi: 10.1097/WNO.0b013e3181ce80c6.
A 52-year-old woman with alcohol abuse presented with recent worsening of vision, imbalance, and confusion. Examination revealed counting fingers acuity in both eyes with central scotomas, color vision loss, horizontal nystagmus, and gait ataxia. Thiamine was initiated as treatment for a presumptive diagnosis of Wernicke encephalopathy (WE). Brain MRI revealed high T2 signal in the dorsal midbrain and thalami characteristic of WE. The lack of optic disc edema, usually present in patients with WE who have severe optic neuropathy, and lack of visual loss reversibility with thiamine treatment, led to the suspicion of coexisting Leber hereditary optic neuropathy (LHON), which was later confirmed when testing revealed the 14484 mitochondrial DNA mutation. Over the ensuing months, vision did not recover despite improvement of other neurologic findings. Irreversible optic neuropathy in WE should prompt consideration of a coexisting mitochondrial disorder such as LHON.
一位 52 岁的酒精滥用女性患者出现视力恶化、失衡和意识模糊。检查发现双眼指数视力，伴有中央盲点，色觉丧失，水平眼球震颤和步态共济失调。由于疑似威尼克脑病（WE），给予硫胺素治疗。脑部 MRI 显示中脑背侧和丘脑的高 T2 信号，具有 WE 的特征。缺乏通常存在于 WE 患者中的视神经病变严重的视盘水肿，以及缺乏视觉丧失与硫胺素治疗的可逆转性，提示存在同时存在的莱伯遗传性视神经病变（LHON），后来通过检测发现 14484 线粒体 DNA 突变证实了这一点。在接下来的几个月中，尽管其他神经学发现有所改善，但视力并未恢复。WE 中的不可逆性视神经病变应提示考虑同时存在线粒体疾病，如 LHON。
