摘要目的 探讨Rasmussen综合征(RS)的临床病理学特征,提高对该罕见疾病的认识.方法 收集4例因癫痫于2008至2016年在北京市海淀医院接受手术治疗诊断为RS的患者,回顾性研究其临床病理资料.结果 患者4例,男性2例,女性2例;临床均表现为持续性部分性癫痫和进行性神经功能缺损.头颅核磁共振成像4例大脑半球显著萎缩.镜下观察见蛛网膜下腔及脑实质内不同程度的淋巴细胞浸润,血管周围淋巴袖套形成,小胶质细胞增生和小胶质结节形成;可见嗜神经现象;皮质内不同程度神经元丢失,局灶皮质内可见海绵水肿和空洞形成,不同程度星形胶质细胞增生;1例炎性病变累及海马;3例伴局灶性皮质发育不良(FCD)Ⅲd型.免疫组织化学染色浸润淋巴细胞主要表达CD3、CD8、粒酶B和T细胞胞质内抗原,CD68示小胶质细胞增生,NeuN示皮质内神经元不同程度丢失,GFAP示增生星形胶质细胞阳性.结论 RS病理学改变类似于病毒性脑炎样,局限于一侧大脑半球呈现多灶性、进展性炎性病变,其诊断应强调临床、影像和病理学特点的综合判断.

abstractsObjective To investigate the clinicopathologic features of Rasmussen syndrome ( RS) and to raise awareness of this rare disease. Methods Clinicopathologic data of 4 cases of RS were retrospectively analyzed at Beijing Haidian Hospital from 2008 to 2016. Results The clinical manifestations included epilepsia partialis continua and progressive neurologic deficits in all patients. MRI demonstrated unihemispheric focal cortical atrophy in all cases. The histopathologic changes included variable degrees of lymphocytic infiltrate within the cortex, subarachnoid space and perivascular cuffing. Microglial nodules and neuronophagia were seen. Mild to severe neuronal loss was noted with variable degrees of reactive gliosis. Spongy edema and cavitation were observed in focal cortex. Inflammation involving hippocampus was seen in one case. Three cases were accompanied by focal cortical dysplasia ( FCD ) Ⅲd. Immunohistochemical staining showed that the infiltrative lymphocytes were positive for CD3,CD8, granzyme B and TIA1 and the proliferating microglial cells were positive for CD68. NeuN positive neurons decreased significantly and reactive astrocytes were GFAP positive. Conclusions Pathologic changes of RS are similar to viral encephalitis and the inflammation is progressive and multifocal involving the hemisphere. The diagnosis of RS relies on pathologic features combined with clinical findings and neuroradiological examinations.