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.
ObjectiveTo clarify the characteristic of secondary cerebral amyloidoma which is relapsing in one year after seven years gamma knife radiosurgery and review relevant literature.MethodsTo analyze the clinical manifestation, preoperative and postoperative MRI imaging, inter-ictal and ictal electroencephalogram (EEG) and histopathological evaluation.ResultsThe patient suffered from epilepsy (mainly autonomic seizure and global tonic-clonic seizure) at the age of 22 and took a gamma knife radiosurgery for right medial temporal epilepsy as the refractory seizures occurred at the age of 36. In her 43 and 44 years’ old, she suddenly found left hemiplegia and mental retardation, the MRI showed right frontal and parietal space-occupying lesion and relapsed after the partial excision respectively, the inter-ictal and ictal EEG displayed persistent slow wave in the right hemisphere and spike wave located in the right posterior temporal and central-parietal, after the surgery, we found amyloid in the histopathological evaluation.ConclusionOne of the delayed complications of gamma knife radiosurgery is secondary cerebral amyloidoma, and partial excision may induced relapsing easily.
ObjectiveWe report a special case to explain seizure semiology and epileptogenic network of seizure arising from ventral motor cortex, and to explore Focal cortical dycplasia (FCD) features on MR of epileptic patients with DEPDC5 mutation.MethodsA drug-resistant focal epilepsy patient with DEPDC5 mutation was underwent a detailed presurgical evaluation. The epileptogenic area(EA) was localized with SEEG and removed later by surgery. Related literatures were thoroughly reviewed.ResultsSubtle FCD of ventral branch of inferior precentral sulcus(IPv) on MR(1.5T) was noticed. With SEEG recording, seizure onset zone was detected on IPv with the probable lesion, early spreading to anterior insula, central operculum and ventral precentral gyrus. According to the architectures of ventral motor trend, seizure semiology with evolution from contralateral dystonia to ipsilateral chorea movement could be better comprehended. Seizure was controlled after totally resection on the sites of IPv, anterior insula, and central operculum. Pathological change was FCD type I. Other literatures reported that DEPDC5 mutation related FCD may be located in motor system, and seizure onset could also be in anterior insula cortex besides motor cortex in other SEEG cases.ConclusionsEarly contralateral dystonia and chorea movement could be definite figures of seizure arising from inferior precentral sulcus; DEPDC5 mutation maybe a clue to find subtle FCD in motor cortex.
ObjectiveTo improve the understanding of clinicians by reports and literature review of patients with rare diseases of Menkes disease.MethodsHigh-throughput sequencing and Sanger sequencing were used to verify the genes of epilepsy, and the mutations were verified in three probands and two parents. The patient's clinical manifestations, EEG, imaging, gene and prognostic characteristics were analyzed.ResultsAll the three patients developed onset in infancy, with hair thinning and curling, and various forms of seizures. Three patients had epileptiform discharges during the EEG interval, and all clinical seizures were recorded. Skull MR showed white matter long T1, long T2 abnormal signal, cerebral artery tortuosity, proband 3 appeared subdural effusion. Three patients had poor efficacy after taking anti-epileptic drugs. The proband one and the proband two did not show significant progress after using histidine copper, but could not alleviate the existing neurological damage.ConclusionMenkes disease occurs frequently in infants, clinical manifestations may be different, some clinical manifestations may be atypical, and currently it is an incurable disease, but the use of histidine copper in the neonatal period can improve survival and reduce nervous system injury. It should be diagnosed early. and the treatment of indications should not be guided by the patient's genotype.