Alexander病的临床和病理研究.docVIP

Alexander病的临床和病理研究 Clinical and pathological findings in Alexander disease 　　XIA Xuefeng*, YI Yonghong, LIAO Weiping, et al. * Research Institute of Neurosciences,Guangzhou Medical College, Guangzhou 510182 　　【Abstract】　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 low-density white matter throughout the cerebral hemispheres. MRI showed prominent also increased T2 signal in the periventricular whitematter. Another patient had an onset at school-age. 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. 　　【Key words】　Central nervous system diseases　　Pathology　　Brain　　Biopsy 　　1949年Alexander最先描述一种以智能发育迟缓和巨脑为特征的中枢神经系统的变性性疾病，后命名为“Alexander病”［1］。临床为一罕见疾病，国外陆续有些关于此病的临床和病理报道，但国内我们尚未见有文献报道。我们在临床中发现 2例病人符合该病的主要特征，其中 1例经脑活检确诊，现报道如下。 病例报告 　　例1　患者男性， 8岁，因发作性意识障碍、四肢抽搐2年，智能减退1年半入院。 6岁起反复出现强直-阵挛性癫痫发作，每个月1次，半年后渐进性智能减退，表现为反应迟钝、已获得的知识技能丧失、言语障碍及视力减退。出生史和既往史无特殊，家族中无类似病史。 　　体查：意识清楚，反应迟钝，与外界接触差，步态不稳。双眼仅存光感，瞳孔等大、等圆，直径3.5 mm，双侧视乳头边缘尚清，生理凹陷存在，稍苍白。余颅神经未见异常。四肢肌张力略低，肌力正常，腱反射对称减弱，感觉及共济运动检查不合作，右侧Babinski征(+)，Chaddock征(+)。 　　实验室检查：三大常规及血沉、血糖、电解质均正常。肝肾功能正常。血清肌酸磷酸激酶同工酶AB(CK-MB)24 IU/L(正常值6～8 IU/L)，碱性磷酸酶(ALK) 212 IU/L(正常值36～92 IU/L)。脑脊液常规、生化检查正常，细胞学检查示小淋巴细胞0.21，核转化型淋巴细胞0.45，单核细胞0.31，激活型单核细胞0.03。头颅CT示大、小脑沟回加深，各脑室、脑池稍增宽，脑实质密度未见明显改变。脑电图背景为弥漫性不规则高～极高波幅1.5～5.0 Hz慢活动，左侧明显，各区频发高～极高波幅2～3 Hz短～中程阵发δ节律，前头明显。各区见高波幅负相棘慢-尖慢综合波，两侧多不同步。入院诊断考虑“弥漫性轴周性脑炎”而行枕叶CT立体定向活检术进行脑活检。病理检查：一半活检组织甲醛固定，HE染色，光镜观察可见脑组织有少量淋巴细胞弥漫性浸润及少量胶质细胞增生，部分空泡区考虑