Berry Renee, Panegyres Peter K
Neurology Service and the Academy of Neurology, Joondalup Health Campus, and Neurodegenerative Disorders Research Proprietary Limited, West Perth, Western Australia.
Cogn Behav Neurol. 2017 Sep;30(3):116-124. doi: 10.1097/WNN.0000000000000132.
Neuromyelitis optica is a rare, severe inflammatory demyelinating disease of the central nervous system, previously described as affecting only the optic nerve and spinal cord. Since the discovery of a highly specific autoantibody, anti-aquaporin-4, lesions are now recognized outside these regions. We report a man with severe, debilitating symptoms resulting from a symptomatic lesion within the diencephalon, manifesting with abnormal circadian rhythms, autonomic dysfunction, behavioral disturbance, and complex visual hallucinations. The patient reported seeing nonexistent small people and animals, streaks of color across people's faces, movement of objects and facial features, water cascading down walls, bright spots, and writing appearing as hieroglyphics. His centrally driven sick sinus syndrome required insertion of a permanent cardiac pacemaker. We have been able to suppress his disease activity with methotrexate for 30 months. We review the literature on patients with positive anti-aquaporin-4 serology and dysregulation of hypothalamic function, to provide evidence that the clinical manifestations can include complex visual phenomena.
视神经脊髓炎是一种罕见的、严重的中枢神经系统炎性脱髓鞘疾病，以前被描述为仅影响视神经和脊髓。自从发现一种高度特异性自身抗体——抗水通道蛋白4以来，现在在这些区域之外也识别出了病变。我们报告一名男性，因间脑内的症状性病变导致严重的、使人衰弱的症状，表现为昼夜节律异常、自主神经功能障碍、行为紊乱和复杂的视幻觉。患者报告看到不存在的小人及动物、人们脸上的彩色条纹、物体和面部特征的移动、水从墙上倾泻而下、亮点以及象形文字般出现的文字。他由中枢驱动的病态窦房结综合征需要植入永久性心脏起搏器。我们已经用甲氨蝶呤抑制其疾病活动30个月。我们回顾了抗水通道蛋白4血清学阳性且下丘脑功能失调患者的文献，以提供证据证明临床表现可包括复杂的视觉现象。
