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find Keyword "结节性硬化" 21 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.

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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
  • Clinical summary and analysis of patients with refractory epilepsy in tuberous sclerosis complex with peripheral blood gene negative

    ObjectiveTuberous 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. MethodsWe 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. ResultsOf 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. ConclusionTSC 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.

    Release date:2024-07-03 08:46 Export PDF Favorites Scan
  • Clinical characteristics of 30 children with tuberous sclerosis

    ObjectiveTo analyze and summarize the clinical and video EEG (VEEG) characteristics of tuberous sclerosis (TSC) with epilepsy.MethodsClinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan. 2016 to May 2019 in Zhengzhou Children’s Hospital were collected, including 29 children with epileptic seizures. The characteristics of skin lesions, imaging, seizures and long-term VEEG were analyzed retrospectively.ResultsThe mean age was (2.88 ± 2.64), 12 males and 18 females, 1 case of lumbar acid as the first symptom, 29 cases with epilepsy as the first symptom, the incidence of epilepsy is high, and the onset age is less than 1 year old; TSC can cause different degrees of cognitive impact; depigmentation or milk coffee spots are the most common skin changes in young children; TSC with infantile spasm has a high incidence; children younger than 10 years old may have lesions of other organs except nervous system lesions. However, the incidence of other organ lesions was relatively low. Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.ConclusionThe clinical characteristics of TSC with epileptic seizures are various, and early diagnosis is of great significance.

    Release date:2020-09-04 03:06 Export PDF Favorites Scan
  • 婴幼儿结节性硬化症眼底改变一例

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  • 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
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