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find Keyword "结节性硬化" 21 results
  • 结节性硬化伴双眼视网膜星形细胞错构瘤一例

    Release date:2019-07-16 05:35 Export PDF Favorites Scan
  • Vigabatrin therapy for Epilepsy in children with Tuberous Sclerosis Complex: an analysis of 25 cases in mainland China

    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.

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  • 结节性硬化精准治疗与随访研究进展

    结节性硬化(Tuberous sclerosis complex,TSC)是一种罕见的常染色体显性遗传性病,常在儿童期起病。结节性硬化致病基因是TSC1和TSC2基因,其临床特点包括癫痫发作、特征性皮肤改变及多系统肿瘤,TSC治疗手段主要有抗癫痫发作治疗、功能康复治疗、TSC相关神经精神异常(Tuberous sclerosis associated neuropsychiatric disorders,TAND)相关的行为治疗以及各部位结节的外科手术治疗,mTOR抑制剂是该病的精准治疗药物,对肿瘤增长和癫痫发作有显著的改善作用。该文对近年结节性硬化精准治疗与随访文献进行综述,探讨结节性硬化精准治疗与随访研究的进展。

    Release date:2023-03-13 02:15 Export PDF Favorites Scan
  • Altered Perceptual Networks in Tuberous Sclerosis Complex Patients with Epilepsy Revealed by Resting Functional Magnetic Resonance Imaging

    ObjectiveTo reveal impairments in the perceptual networks in tuberous sclerosis complex (TSC) with epilepsy by functional connectivity MRI (fcMRI). MethodsThe fcMRI-based independent component analysis (ICA) was used to measure the resting state functional connectivity in nine TSC patients with epilepsy recruited from June 2010 to June 2012 and perceptual networks including the sensorimotor network (SMN), visual network (VN), and auditory network (AN) were investigated. The correlation between Z values in regions of interest (ROIs) and age of seizure onset or duration of epilepsy were analyzed. ResultsCompared with the controls, the TSC patients with epilepsy presented decreased functional connectivity in primary visual cortex within the VN networks and there were no increased connectivity. Increased connectivity in left middle temporal gyrus and inferior temporal gyrus was found and decreased connectivity was detected in right inferior frontal gyrus within AN networks. Decreased connectivity was detected at the right inferior frontal gyrus and the increase in connectivity was found in right thalamus within SMN netwoks. No significant correlations were found between Z values in ROIs including the primary visual cortex within the VN, right thalamus and inferior frontal gyrus within SMN, left temporal lobe and right inferior frontal gyrus within AN and the duration of the disease or the age of onset. ConclusionFhere is altered (both increased and decreased) functional connectivity in the perceptual networks of TSC patients with epilepsy. The decreased functional connectivity may reflect the dysfunction of correlative perceptual networks in TSC patients, and the increased functional connectivity may indicate the compensatory mechanism or reorganization of cortical networks. Our fcMRI study may contribute to the understanding of neuropathophysiological mechanisms underlying perceptual impairments in TSC patients with epilepsy.

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  • The clinical study of epilepsy induced by tuberous sclerosis complex in 54 subjects

    ObjectiveAnalyze the clinical features of epilepsy induced by tuberous sclerosis complex (TSC) to improve diagnosis and treatment level of this disease, and improve the prognosis. MethodsThe clinical data of 54 patients with epilepsy induced by TSC from May, 2012 to May, 2015 were analyzed together with the physical data, clinical presentations, EEG, imaging findings, treatment, prognosis and follow-up. Summarizing the clinical features of epilepsy induced by TSC. ResultsPatients with different epilepsy onset age, whether or not combined spasm, differences in intelligence status were statistically significant (P < 0.05); Patients with different gender, skin lesions, types of seizures, differences in intelligence status were no statistical significance (P > 0.05); Patients with different gender, epilepsy onset age, differences in patients with spasm were statistically significant (P < 0.05); Patients with different family history, skin lesions, types of seizures, differences in patients with spasm were not statistically significant (P > 0.05). Patients with different intelligence status, difference of medication quantity was statistically significant (P < 0.05); Patients with different gender, onset age, family history, skin lesions, whether or not combined spasm, types of seizures, difference of medication quantity was not statistically significant (P > 0.05). ConclusionsEpilepsy is the most common neurological manifestations in TSC, mostly onset in early childhood. Seizure types are different from one to another. Patients can be combined with skin damage and mental retardation. Positive rate of EEG and head imaging examination are high, seizure control rate is low. Patients need long-term follow-up and timely adjustment of treatment. Intelligence status is related to epilepsy onset age, spasm. Patients with spasm are related to different gender, epilepsy onset age. Medication quantity is related to intelligence status.

    Release date:2017-04-01 08:51 Export PDF Favorites Scan
  • 婴幼儿结节性硬化症眼底改变一例

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  • 结节性硬化病并发视网膜星形细胞错构瘤多模式影像检查一例

    Release date:2018-01-17 03:16 Export PDF Favorites Scan
  • 眼部结节性硬化一例

    Release date:2016-09-02 06:01 Export PDF Favorites Scan
  • Vigabatrin for seizures treatment in patients with tuberous sclerosis complex: an efficacy and safety study

    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.

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  • SEEG-guided radiofrequency thermocoagulation ablation for tuberous sclerosis-associated epilepsy

    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.

    Release date:2024-05-08 08:43 Export PDF Favorites Scan
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