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.
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.
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.
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.