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.
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 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.