Retrospective analysis of clinical diagnosis and treatment and genetic characteristics of patients with TRE(TSC-related epilepsy) / 中风与神经疾病杂志

ABSTRACT

@#Objective　To improve the understanding and provide a reasonable plan for clinical diagnosis and treatment of TRE(TSC-related epilepsy,TRE),by analyzing the clinical and genetic characteristics of TRE as well as the treatment effect about medication and surgery.Methods　We analyzed the video EEG,imaging,pathology,genetic characteristics,and treatment effect of 10 patients retrospectively.These patients with refractory epilepsy were diagnosed and treated by our epilepsy center from November 2014 to November 2019.The clinical and genetic characteristics of TRE were summarized.Results　There were 3 females,7 males,4 patients with seizures before 3 years old,5 patients with seizures from 3 to 6 years old and 1 at 19 years old.There were 5 cases of spastic seizures and 5 cases of focal seizures.The Video EEG showed that 7 patients have epileptiform discharge site located on one side brain hemisphere and 3 patients about both side.Imaging results showed 4 cases of unilateral subventricular or subcortical nodules,5 cases of bilateral abnormalities,and 1 case of Dandy-Walker deformity.Pathology showed brain tissue section of 4 patients with six-story structure disappearance and immature neurons appearance.Genetic testing revealed 5 cases of TSC1 mutations,5 cases of TSC2 mutations,7 cases of family mutations,and 4 cases of surgical patients were nonsense mutations.The treatment effect about 3 patients of Rapamycin improved than before significantly.Conclusion　TRE patients usually fall ill in early age,more males than females,mainly spastic and focal seizures.The Video EEG showed epileptiform discharge site located on one side brain hemisphere.Gene testing is useful for treatment.The type of mutation may be related to the degree and location of brain lesions and the origin of the discharge,but there is no significant correlation between the discharge site recorded on the EEG and the abnormal imaging site.Therefore,genetic testing should be considered when clinical treatment is not improvement.