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find Keyword "Tuberous sclerosis" 8 results
  • Efficacy and safety of ketogenic diet in tuberous sclerosis complex with epilepsy

    ObjectiveTuberous sclerosis complex (TSC) is a multiorgan disorder and mostly associated with intractable epilepsy. Now several individual reports suggest that epilepsy in children with TSC might benefit from a ketogenic diet (KD). We prospectively studied the curative effect of 14 children with the KD in the treatment of TSC with epilepsy. MethodsBetween 2008 and 2015, we enrolled 14 children with TSC and epilepsy who received KD treatment in Shenzhen Children's Hospital and followed up for at least three months.Outcome was measured by the change of seizure frequency before and after the KD in the use of anticonvusant drugs, adverse effects, and change in cognitive function. Results14 children aged 8 months to 7 years were included. 7/14 (50%) children had a > 50% reduction in seizure frequency at 3 months on the diet, 5/14 (36%) children had a seizure free response. 12/14 (86%) children with refractory epilepsy, 6/12 (50%) children had a > 50% reduction in seizure frequency, 2 children had reduced medications, one child did not use any antiepileptic drugs during KD. 6 of 12 children with developmental delays had cognitive function improvement. ConclusionsKD is a generally effective and safe therapy for TSC children with epilepsy, especially for refractory epilepsy. KD could reduce antiepileptic drugs, and also improve children's cognitive function.

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  • 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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  • Clinical features and electroencephalogram characteristics of tuberous sclerosis complex in children with epilepsy

    ObjectiveTo probe the clinical features and the characteristics of radiography and electroencephalogram (EEG) of tuberous sclerosis complex(TSC) in children with epilepsy. MethodsThe clinical data of the TSC cases with epilepsy were collected from inpatients in Jiangxi Children's Hospital from Jan. 2013 to Oct. 2015. ResultsAmong the 26 cases, 21 cases(21/26, 80.77%) involved abnormalities of the skin. Of these patients, there were 10 cases with hypomelanotic macules, 7 cases with café au lait spots and 4 cases with facial angiofibromas. There were no significant difference among the different age groups. In addition, there were 8 cases (8/26, 30.77%) with spasm seizures, of whom 3 cases had partial seizure, 10 cases (10/26, 38.46%) with complex partial seizure, 5 cases(5/26, 19.23%) with secondary generalized seizure, 2 cases(2/26, 7.69%) with tonic-clonic seizure and one case with Lennox-Gastaut syndrom(1/26, 3.85%). The average onset age of the epileptic spasms group were younger than those of the other epilepsy groups (t=2.143, P=0.042). EEG monitoring demonstrated hypsarrhythmia in 7 cases (7/26, 26.92%) in the interictal EEG, focal epileptic discharges in 11 cases (11/26, 42.31%), multifocal discharges in 5 cases, the slow background activity in 2 cases and the normal EEG in one case. Cranial imaging demonstrated subependymal nodules (SEN) in 25 cases(25/26, 96.15%) was the most common. ConclusionThe clinical manifestations and seizure types of TSC in children, especially in infants and young children, were diverse and age-dependent. It was very important to improve understanding of the clinical features and related risks of TSC at various ages, which was helpful to diagnose TSC early.

    Release date:2016-10-02 06:51 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
  • Mutiple factors analusis of the influence of epilepsy onset age on the patients with tuberous sclerosis complex

    ObjectiveTo investigate the relationships between the onset age, genotype, clinical phenotype and the efficacy of Rapamycin in patients with tuberous sclerosis complex.MethodsRetrospectively analyze the clinical data of patients with tuberous sclerosis complex (TSC) who were diagnosed with epilepsy in Guangdong Sanjiu Brain Hospital from October 2013 to December 2018. Meanwhile, the relationships between the onset age of epilepsy and genotype, clinical phenotype and Rapamycin efficacy were analyzed comprehensively.ResultsTSC gene was detected in 104 patients with tuberous sclerosis complex, of which 85 (81.7%) were positive and 44 (51.8%) were males as well as 41 (48.2%) were females, with an average age of (4.0±4.9) years old. And there were 34 (40.0%) TSC1 mutations and 51 (60.0%) TSC2 mutations. The patients were divided into 3 groups according to their ages: ≤1 year old, 1 ~ 6 years old and ≥6 years old. Among them, 31 cases (36.5%) were in the ≤1 year old group, 31 cases (36.5%) in the 1 ~ 6 years old group and 23 cases (27.0%) in the ≥6 years old group. Through statistical analysis, we found that the onset age of epilepsy in patients with TSC1 and TSC2 gene mutations was statistically different (χ2=9.030, P=0.011). Further analysis of the relationship between the onset age of epilepsy and other clinical phenotypes showed that there were statistical differences in the probability of mental retardation and spasm seizure in different onset age groups of epilepsy (P<0.05). In addition, patients with epilepsy onset age ≤1 year old are more likely to have renal disease and patients with epilepsy onset age ≥6 years old are more likely to have SEGAs. There was no significant difference between the onset age of epilepsy and the efficacy of Rapamycin (P>0.05).ConclusionTSC2 mutation, mental retardation and spasm seizure are more likely to occur in patients with epilepsy onset age ≤1 year old. The study on multiple factors of epilepsy onset age may have a certain guiding role in judging the development and prognosis of TSC with epilepsy.

    Release date:2020-07-20 08:13 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
  • Clinical observation of rapamycin in the treatment of tuberous sclerosis complicated with refractory epilepsy

    ObjectiveTo analyze the clinical efficacy and safety of rapamycin in the treatment of Tuberous sclerosis complex ( TSC ) complicated with refractory epilepsy, and to provide scientific basis for the clinical treatment of this disease.MethodsRetrospective analysis was performed on 22 children with TSC complicated with refractory epilepsy admitted to Henan People's Hospital from 2017 to 2019, including 11 males and 11 females who met the inclusion criteria, with an average age of (27.91±36.92) months. They were treated with antiepileptic drugs and rapamycin at the same time, and followed up for at least 1 year.To observe the change of seizure frequency before and after treatment with rapamycin.ResultsThe mean reduction rate of seizure frequency in children with tuberous sclerosis complicated with refractory epilepsy was 52.1% 6 months after the addition of rapamycin, and 51.2% 12 months after the addition of rapamycin. The number of seizure-free days could be maintained. The difference before and after the addition of rapamycin was statistically significant (P<0.05).ConclusionThe addition of rapamycin in the treatment of TSC complicated with refractory epilepsy can reduce the frequency of seizure and increase the number of days without seizure, and the adverse reactions are mild/moderate. Rapamycin has certain safety in children with regular follow-up.

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