ABSTRACT
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.
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinicopathologic features of tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>The clinicopathologic data of the patients diagnosed as TSC with refractory epilepsy and resection of epileptic focus were retrospectively analyzed.</p><p><b>RESULTS</b>Fourteen cases were included, the mean age was (15.8±12.9) years, with a male predominance (male to female ratio=10:4). Frontal lobe was the most common (13/14) site of involvement. MRI showed multiple patchy long T1 and long T2 signals. CT images showed multiple subependymal high density calcified nodules in nine cases. Histology showed mild to severe disruption of the cortical lamination, cortical and subcortical tubers with giant cells and/or dysmorphic neurons. The giant cells showed strong immunoreactivity for vimentin and nestin, while the dysmorphic neurons partially expressed MAP2 and NF. Vimentin also stained strongly the "reactive" astrocytes. Thirteen cases had follow-up information: Engel class I in six cases, Engel class II in six cases, and Engel class III in one case.</p><p><b>CONCLUSIONS</b>Diagnosis of TSC relies on combined pathologic, clinical and neuroradiological features. Immunohistochemical staining can be helpful. Resection of epileptic focus is an effective method to treat refractory epilepsy in TSC.</p>
Subject(s)
Adolescent , Child , Female , Humans , Male , Astrocytes , Chemistry , Pathology , Drug Resistant Epilepsy , General Surgery , Epilepsy , Metabolism , Pathology , Epilepsy, Frontal Lobe , Metabolism , Pathology , Giant Cells , Chemistry , Pathology , Magnetic Resonance Imaging , Nestin , Neurons , Metabolism , Pathology , Retrospective Studies , Tuberous Sclerosis , Metabolism , Pathology , VimentinABSTRACT
Objective Sylvian Veins morphology analysis contributes to cortex veins protection for clear surgical fields, a better choice for operation plan evaluation. Methods 33 cases diagnosed as epilepsy, male∶female=19∶14, mean ages 18.7y (9-52). Results 4 types of Sylvian Veins spreading were observed from the procession of functional surgery: long stem pattern 49%(16/33), short stem pattern 15%(5/33), long truncks pattern 33%(11/33), and absent stem pattern 3%(1/33). Conclusion Sylvian Veins morphology analysis shows that there exist 4 main patterns, which may contribute to functional surgery about frontal operculum, temporal operculum and insular lobe or intracranial electrode placement.
