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.
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.
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.
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.
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.