Alexander病的临床和病理研究

Clinical and pathological findings in Alexander disease

目的进一步认识Ａｌｅｘａｎｄｅｒ病的临床和病理特征，探讨诊断方法。方法对２例具有智能发育迟缓、惊厥等脑损害症状病例的临床和影像学，其中１例脑活检病理检查进行了研究。结果１例婴儿期起病者头颅大，ＣＴ扫描示前额明显的广泛性脑白质密度减低特征，ＭＲＩ示脑室旁白质Ｔ２高信号；另１例学龄期起病，ＣＴ扫描显示脑萎缩，脑活检光镜下发现脱髓鞘和胶质细胞增生，电镜下观察到大量Ｒｏｓｅｎｔｈａｌ纤维（ＲＦｓ）及不规则的颗粒状沉积物。结论临床和影像学检查结合，可帮助对该病的拟诊，对临床疑诊的病例，应做脑活检电镜观察以明确诊断。

Objective To further understand the clinicopathological characterics of Alexander disease. Method Two patients with mental retardation and convulsive seizures were subjected to the clincal study, light and electron microscopic study of brain biopsy. Results One case with infantile onset had macrocephaly. The CT scan and MRI showedprominent lowdensity white matter throughout the cerebral hemispheres. MRI showed prominent also increased T2 signal in the periventricular whitematter. Another patient had an onset at schoolage. The CT scan demonstrated brain atrophy. Histological examination on brain biopsy revealed diffuse demyelination and fibrous gliosis. Rosenthal fibers were found as bundles of glial and dense granular large masses on electron microscopy. Conclusion Alexander disease was diagnosed for the patients on clinical,neuroradiological and neuropathological basis.