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[Rasmussen syndrome: a clinicopathologic study of four cases].
Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology 2018 September 9
Objective: 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.
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