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.
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.
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 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.
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.