Rasmussen综合征3例临床病理观察

Rasmussen syndrome: a clinicopathologic analysis of three cases

目的探讨Rasmussen综合征(RS)的临床、影像学特征和病理诊断要点。方法复习3例Rasmussen综合征的临床及影像学资料,镜下观察其病理形态特征和免疫表型,并探讨其临床和病理诊断标准。结果 3例中女性2例,男性1例,年龄分别为5岁、9岁和27岁,临床表现为难治性癫痫和不同程度偏瘫。MRI示右侧大脑半球显著萎缩并脑室扩大。镜下见皮质内不同程度神经元丢失,胶质细胞显著增生;可见小胶质细胞激活及胶质结节形成,蛛网膜下腔及脑实质内不同程度的淋巴细胞浸润,和/或血管周围淋巴细胞袖套形成;部分皮质内可见钙化、坏死及空洞形成;未见病毒包涵体。免疫组化示皮质内Neu-N阳性神经元显著减少,增生的胶质细胞GFAP(+),浸润的淋巴细胞CD3、CD8和granzyme B(+);而B淋巴细胞、巨噬细胞和浆细胞标记(-)。结论 Rasmussen综合征少见,其正确诊断需结合临床、影像及病理形态综合分析。癫痫持续状态、单侧大脑半球萎缩以及病毒性脑炎样的病理改变是重要的诊断线索。

Purpose To investigate the clinical and imaging features,pathological diagnosis of Rasmussen syndrome（ RS）. Methods Clinical and imaging data of 3 cases of RS were analyzed. The morphological characteristics were observed by light microscope and immunohistochemistry. Related clinical and pathological criteria were discussed.Results The two girls and one boy aged 5,9 and 27 years,respectively. Chronic intractable epilepsy and unilateral hemiparesis of variable degree were their common clinical symptom. MRI demonstrated the right cortical atrophy and ipsilateral ventricular dilatation. The histopathologic changes included mild to severe neuronal loss and marked reactive gliosis,microglial nodules and activation,variable degrees of lymphocytic infiltration within the cortical and subarachnoid space,and / or perivascular cuffs. Calcification,necrosis and cavitation were seen in some affected gyrus. No virus inclusion was found in any case. Immunohistochemical staining showed neurons positive for Neu-N were strikingly lost,and even disappeared. Glial fibrillary acidic protein（ GFAP） highlighted the presence of reactive astrocytes. The infiltrative lymphocytes were CD3 positive,and majority of these cells were CD8 positive and expressed Gr B-positive granules.However,markers for B lymphocytes and plasma cells confirmed the paucity of these cells in RS. CD68-positive cells were mainly microglia rather than macrophages. Conclusion Rasmussen syndrome is rare. Its accurate diagnosis depends on the comprehensive analysis of pathological features,clinical history and imaging. Epilepsia partialis continua,unilateral cortical atrophy and pathological changes of chronic viral encephalitis are the key clues of diagnosis.