Department of Neuropathology, University of Bonn, Bonn, Germany.
Epilepsy Behav. 2011 Jan;20(1):38-43. doi: 10.1016/j.yebeh.2010.11.008. Epub 2010 Dec 9.
Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.
癫痫手术评估可能需要采用有创措施，如颅内电极植入或 Wada 测试。这些检查通常能被很好地耐受。然而，已经有报道称会出现各种病因的视觉障碍等并发症。在此我们描述了 2 例药物难治性颞叶癫痫（TLE）患者，他们在术前评估中出现视力丧失，且检测到与 Leber 遗传性视神经病变（LHON）相关的突变。基因分析显示，1 例患者存在线粒体 ND4 中常见的 G11778A LHON 突变。第 2 例患者检测到线粒体 ND2 中的 C4640A 突变。这种罕见的 LHON 突变增强了患者肌肉和脑组织对阿米妥的敏感性，而阿米妥是线粒体呼吸链的已知阻滞剂。癫痫患者中已经报道存在线粒体功能障碍。因此，LHON 突变的存在可能是癫痫患者视觉障碍的罕见原因，并可能导致癫痫的发生。
