Martidis A, Yee R D, Azzarelli B, Biller J
Department of Ophthalmology, Indiana University School of Medicine, Indianapolis 46202, USA.
Arch Ophthalmol. 1999 Feb;117(2):265-7. doi: 10.1001/archopht.117.2.265.
A 61-year-old woman had a 3-year history of imbalance. Eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of Alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset Alexander disease.
一名61岁女性有3年的平衡障碍病史。眼动研究显示有方形波急跳、凝视性麻痹性眼球震颤、反弹性眼球震颤、平稳跟踪受损、视动性眼球震颤受损以及前庭性眼球震颤的注视抑制异常。脑部磁共振成像研究显示，小脑中脚和齿状核有广泛的信号增强区域，钆增强扫描后更为明显。左小脑脚针吸活检标本的组织病理学分析显示，在存在对称分布的脱髓鞘区域的情况下有弥漫性胶质增生。伴有罗森塔尔纤维。临床病理相关性支持亚历山大病的诊断。一名有进行性平衡障碍病史、伴有与小脑和/或脑干功能障碍一致的眼球运动异常、以及脑干和小脑白质弥漫性、对称性高信号磁共振成像信号的成年患者，应考虑诊断为成人型亚历山大病。
