west china medical publishers
Keyword
  • Title
  • Author
  • Keyword
  • Abstract
Advance search
Advance search

Search

find Keyword "结节性硬化症" 16 results
  • 新生儿结节性硬化伴视网膜星形细胞错构瘤一例

    Release date:2021-03-19 07:10 Export PDF Favorites Scan
  • 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
  • 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.

    Release date: 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.

    Release date: Export PDF Favorites Scan
  • 婴幼儿结节性硬化症眼底改变一例

    Release date: Export PDF Favorites Scan
  • 眼部结节性硬化一例

    Release date:2016-09-02 06:01 Export PDF Favorites Scan
  • 结节性硬化症诊断及其相关癫痫的非手术治疗

    结节性硬化症(Tuberous sclerosiscomplex,TSC)是一种罕见的 TSC 基因突变引起的常染色体显性遗传性神经皮肤综合征,可累及皮肤、神经、眼、心肺肾等多器官,临床表现或基因检测可以诊断。颅内病变为皮质结节、室管膜下巨细胞星形细胞瘤和钙化灶,癫痫是其主要的神经系统表现,且与智力损害及神经心理异常密切相关。TSC 相关癫痫的非手术治疗包括哺乳动物雷帕霉素靶蛋白抑制剂、抗癫痫药物和生酮饮食等,但药物难治性癫痫比率超过 50%;其中 TSC 相关的婴儿痉挛症首选氨己烯酸治疗。

    Release date:2019-03-21 11:04 Export PDF Favorites Scan
  • 结节性硬化症颅内高压致视神经损害一例

    Release date:2016-09-02 05:41 Export PDF Favorites Scan
  • 结节硬化病合并视网膜星状细胞错构瘤一例

    Release date:2016-09-02 05:43 Export PDF Favorites Scan
  • 局灶性皮质发育不良与儿童孤独症谱系障碍的相关性研究进展

    结节性硬化症(Tuberous sclerosis complex,TSC)是一种常染色体显性遗传疾病,已被证实与儿童局灶性脑皮质发育(Focal cortical dysplasia,FCD)和孤独症谱系障碍(Autism spectrum disorder,ASD)的发病机理有关。作为研究 FCD 以及 ASD 的模型,许多文献中都提到了 TSC,但目前尚不清楚具体机制。文章对 TSC 与 FCD 和 TSC与 ASD 患儿之间的关系,以及FCD与 ASD 之间的联系,提出新的想法。

    Release date:2020-05-19 01:07 Export PDF Favorites Scan
2 pages Previous 1 2 Next

Format

Content