Objective To explore the efficiency of Vigabatrin for epilepsy in children with Tuberous Sclerosis Complex, and to further research the risk factors related to the outcome after adjunctive use of Vigabatrin. Methods 25 children with TSC and epilepsy treated with Vigabatrin at Children′s Hospital of Fudan University between 2013 and 2015 were included. Clinical characteristics and the effectiveness of other antiepileptic drugs were extracted from the follow-up data. The prevalence of visual field defect was analyzed among the cases. And correlations were made between the responses to Vigabatrin in groups. Results 25 cases, 15 male (60%). 18 cases had response to VGB-adjuvant therapy. Children with epilepsy onset at greater than six months of age were most likely to demonstrateagood response to VGB treatment. And the poorly response of cases showed that 4 had TSC1 mutation. And among the 25 cases, one child had the visual filed defect. Conclusions Vigabatrin as adjunctive therapy showed certain effect in controlling epilepsy in TSC cases, especially infantile spasms and some partial epilepsy. But the side effect of visual filed defect should be cautious. Age-appropriate visual field testing is recommended at baseline and then repeated at intervals in patients exposed to long term Vigabatrin therapy.
目的 探讨结节性红斑的病因、临床特点及治疗方法。 方法 对1999年1月-2009年12月收治的283例结节性红斑患者进行分析。 结果 此病多见于中青年患者，男:女比例为 1∶6.8。其中结核杆菌感染 94例（33.22%），链球菌感染25例（22.26%）；白塞病5例（1.77％），干燥综合征2例（0.71％），系统性红斑狼疮7例（2.47％），类风湿性关节炎5例（1.77％）；淋巴瘤 2例（0.71％）；病因不明66例（23.32％）。治疗结果较好。 结论 结节性红斑为多因素疾病，与感染性疾病最为密切，多见于结核杆菌及链球菌感染。治疗应积极驱除病因和对症治疗。
目的 探讨结节性甲状腺肿与甲状腺癌并存时的诊治方法。 方法 回顾性分析我院1961～2000年手术治疗的4 622例结节性甲状腺肿病例中169例并存甲状腺癌患者的临床资料。 结果 患者平均年龄（42.71±12.96）岁，病程平均19.15年； 43例出现短期内颈部肿块快速长大，32例有气管受压症状，27例出现声音嘶哑； 行超声检查105例，提示甲状腺癌者52例； 行放射性核素扫描检查38例，24例显示甲状腺内凉结节或冷结节； 行术前细针穿刺细胞学检查18例，找到癌细胞11例。术前确诊率为12.43%。术中行快速病理检查57例，55例诊断为甲状腺癌。 结论 在结节性甲状腺肿临床表现的基础上出现颈部肿块增长迅速、气管受压、声音嘶哑等症状时应高度怀疑结节性甲状腺肿与甲状腺癌并存； 甲状腺彩色超声多普勒、甲状腺核素扫描、细针穿刺细胞学等检查对诊断本病有重要意义； 术前检查怀疑甲状腺癌者术中应行快速冰冻切片病理检查，可有效避免再次手术。
ObjectiveTo evaluate the efficacy, tolerability and safety of vigabatrin (VGB) for seizure treatment in patients with tuberous sclerosis complex (TSC). MethodsForty-one epilepsy patients with tuberous sclerosis complex, admitted from January 2015 to December 2015, were included in our study; they were treated with VGB with an initial dose of 20 mg/(kg·d), and a maintenance dose of 50~ 100 mg/(kg·d). Baseline seizure frequency were evaluated by the parents or the guardian, and investigated the efficacy, tolerability, adverse reactions and safety in 3 and 6 months after treatment, and compared with the baseline. The treatment outcomes were evaluated by seizure frequency as completely seizure free (100% seizure reduction), markedly effective (75%~99% seizure reduction), effective (50%~74% seizure reduction) and invalid ( < 50% seizure reduction). Adverse reactions were observed during treatment. ResultsThe completely seizure free rates after 3 and 6 months treatment were 51.2% and 57.9%; and the total effective rates (completely seizure free+markedly effective+effective) were 90.2% and 89.5%.During the 6 months, only one patients stopped VGB use because of the poor efficacy and the difficulties to buy this medicine. 14 patients appeared adverse reactions, including drowsiness, agitation, hyperactivity and myoclonus, which were transient and mild. No patients had clinically perceivable visual-field changes on clinical examination. ConclusionVGB is a effective treatment in TSC patients with epilepsy, and have a good security in short term.
ObjectiveTo study the therapeutic efficacy of stereoelectroencephalography (SEEG)-guided radiofrequency thermo-coagulation ablation (RF-TC) in the treatment of tuberous sclerosis (TSC) related epilepsy and to investigate the prediction of the therapeutic response to SEEG-guided RF-TC for the efficacy of the subsequent surgical treatment. MethodsWe retrospectively analyze TSC patients who underwent SEEG phase II evaluation from January 2014 to January 2023, and to select patients who underwent RF-TC after completion of SEEG monitoring, study the seizure control of patients after RF-TC, and classify patients into effective and ineffective groups for RF-TC treatment according to the results of RF-TC treatment, compare the surgical outcomes of patients in the two groups after SEEG, to explore the prediction of surgical outcome by RF-TC treatment. Results59 patients with TSC were enrolled, 53 patients (89.83%) were genetic detection, of which 28 (52.83%) were TSC1-positive, 21 (39.62%) were TSC2-positive, and 4 (7.54%) were negative, with 33 (67.34%) de novo mutations. The side of the SEEG electrode placement: left hemisphere in 9 cases, right hemisphere in 13 cases, and bilateral hemisphere in 37 cases. 37 patients (62.71%) were seizure-free at 3 months, 31 patients (52.54%) were seizure-free at 6 months, 29 patients (49.15%) were seizure-free at 12 months, and 20 patients (39.21%) were seizure-free at 24 months or more. 11 patients had a seizure reduction of more than 75% after RF-TC, and the remaining 11 patients showed no significant change after RF-TC. There were 48 patients (81.35%) in the effective group and 11 patients (18.65%) in the ineffective group. In the effective group, 22 patients were performed focal tuber resection laser ablation, 19 cases were seizure-free (86.36%). In the ineffective group, 10 patients were performed focal tuber resection laser ablation, only 5 cases were seizure-free (50%), which was a significant difference between the two groups (P<0.05). ConclusionsOur data suggest that SEEG guided RF-TC is a safe and effective both diagnostic and therapeutic treatment for TSC-related epilepsy, and can assist in guiding the development of future resective surgical strategies and determining prognosis.