• Department of Epilepsy center, Tsinghua University Yuquan Hospital, Beijing 100049, China;
ZHOU Wenjing, Email: closejeo@hotmail.com
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Objective Tuberous sclerosis complex (TSC) is a multisystem disease, which often manifests as refractory epilepsy in the nervous system and multifocality in Magnetic resonance imaging (MRI). We summarized patients with TSC whose peripheral blood gene test was negative,and analyzed their medical history, EEG, MRI and postoperative conditions. Methods We summarized and analyzed 205 patients with TSC diagnosed clinically and pathologically and underwent surgery from April 2008 to February 2024. 11 patients with TSC whose peripheral blood gene test was negative and underwent surgery were screened out.All patients underwent gene examination, MRI and long-range video EEG monitoring. All patients underwent detailed preoperative evaluation and direct resection surgery, intracranial electrode thermocoagulation surgery or laser surgery. Results Of the 11 patients with peripheral blood gene test negative, 11 (100%) patients achieved Engel Ⅰ within 1 year after surgery, and 10 (91%) patients achieved Engel Ⅰwithin 2 years. The median age of onset of 11 patients was 6 months, and 8 patients (73%) had onset less than 1 year old. All patients had multiple nodules in the brain. Except for the brain, the changes of the other organs were polycystic kidney and skin changes in 2 patients, skin changes in 8 patients, and normal in 1 patients. Conclusion TSC patients with peripheral blood gene negative who have young onset age, frequent seizures, and multiple nodules on MRI often present with refractory epilepsy. However, the postoperative effect is good, and the postoperative EEG of most patients is normal.

Citation: HE Jing, ZHOU Wenjing, SHI Jie, LIN Jiuluan, WANG Haixiang, ZHANG Bingqing. Clinical summary and analysis of patients with refractory epilepsy in tuberous sclerosis complex with peripheral blood gene negative. Journal of Epilepsy, 2024, 10(4): 295-298. doi: 10.7507/2096-0247.202405003 Copy

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