ObjectiveThe purpose of this study was to explore the expression of Corticotropin releasing hormone (CRH), Corticotropin releasing hormone receptor 1 (CRHR1), Protein kinase C (PKC) in epileptogenic zone of Infantile spasm (IS).MethodsCollected 17 cases of tissues of IS patients from operation and 6 cases of normal brain tissues from clinical autopsy during June 2011 to June 2014. Westen blot was used to detected the protein expression of CRH, CRHR1, PKC. PCR was used to exam the mRNA expression of CRH, CRHR1, PKC. Immunohistochemistry and fluorescenceimmuno assay were used to detect the expression of CRH, CRHR1, PKC.ResultsThe mRNA expression of CRH and CRHR1 in IS group are higher than control group, and the protein expression of CRH and CRHR1 in IS group are higher than control group. CRH are slightly expressed in the controls, medium and strong expressed in IS, CRH and NF200 both expressed in IS; CRH is negative in GFAP positive astrocyte; CRH is negative in HLA positive microglial cell. CRHR1 are slightly and medium expressed in the controls, medium and strong expressed in IS, CRHR1 and NF200 both expressed in IS; CRHR1 and GFAP are both positive in astrocyte; CRHR1 and HLA are both positive in microglial cell. PKC are slightly and medium expressed in the controls, medium and strong expressed in IS, PKC and NF200 both expressed in IS; PKC and GFAP are both positive in astrocyte; PKC and HLA are both positive in microglial cell. Spearman analysis showed positive correlation between the expression of CRH, CRHR1, PKC with epileptic spasm in IS patients, as well as positive correlation between PKC with CRHR1.ConclusionsOver expression of CRH, CRHR1, PKC with epileptic spasm in IS patients were positive related with epileptic seizure in IS patients, indicated that CRH signal pathway is related with IS pathogenesis.
ObjectiveTo explore the clinical manifestation, diagnosis, treatment and prognosis of infantile spasm complicated with craniostenosis.MethodsA case of infantile spasm complicated with craniostenosis in the Department of Neurology of Qilu Children's Hospital in December 2017 was reviewed with the literature. The clinical manifestations, diagnosis, treatment and prognosis of infantile spasm with craniostenosis were analyzed.ResultsThe proband infantile spasms and craniostenosis was diagnosed by clinical, imaging examination and VEEG. Epileptic attack was prevented and craniostenosis was corrected by hormone shock therapy (corticotrophin was administered for 14 days, followed by topiramate)and surgical treatment (cranial cap reconstruction was performed), and good clinical prognosis was obtained.ConclusionThis case was the first reported case of craniostenosis with infantile spasm in China, and compared with the foreign treatment method, better treatment method and the operation opportunity were obtained. Which has a significant effect on the clinical treatment of infantile spasm complicated with transcranial disease.
ObjectiveTo analysis the causes of infant spasm (IS) and provide a theoretical basis for clinical diagnosis and treatment. MethodsCollected the clinical data of 116 IS cases in our hospital from May 2011 to December 2013, which conform to the diagnostic standard, and analysis its causes. ResultsIn the116 cases we collected, symptomatic IS is primarily for 78 cases (67.24%); the onset age of symptomatic IS within 6 months was 76.39% (55/72), higher than the rates of symptomatic IS beyond 6 months 52.27% (23/44) (P=0.007); The pathogenic factor in symptomatic IS, prenatal accounted for 48.72%, intrapartum factors accounted for 34.62%; for sexually transmitted diseases accounted for 47.44%, venereal disease accounted for 52.56%. In 78 cases of symptomatic IS, gender has no relation with its pathogenic factors; the onset age within 6 months of antepartum and intrapartum factor is significantly higher than the rates of symptomatic IS beyond 6 months (89.09% VS 69.57%); distribution between urban and rural areas and its pathogenic factors is related, prenatal factors of urban IS significantly lower than which in rural areas (38.30% VS 64.51%), intrapartum factor IS significantly higher than the rural IS (44.68% VS 19.35%). ConclusionThe cause of the IS given priority to with symptomatic, IS in the majority with, and prenatal or developmental factors in the higher flight in symptomatic, and the smaller of the onset age antepartum and intrapartum factor becomes more apparent, prenatal factors in the rural areas is higher than which in the unban areas, but intrapartum factor in the unban areas is higher than which in the rural areas. Magnetic resonance imaging (MRI) still plays an important role in etiology diagnosis.
ObjectiveTo explore the differences in the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences, so as to further guide the clinical understanding of VABAM and improve the appropriate imaging sequences. MethodsA total of 353 patients with infantile spasm or epileptic spasm who were admitted to the Epilepsy Center of Yuquan Hospital of Tsinghua University from January 2020 to January 2023 were retrospectively included. MRI was performed in 131 cases, including 3D T1, T2, T1- fluid-attenuated inversion recovery sequence (FLAIR) images, DWI and ADC sequences, of which 65 cases taking VGB. We aim to evaluate the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences in these children. Results Among the 65 patients, VABAM was detected in 23 cases, the detection rate was 35.4%. The average dosage of vigabatrin was 100.73±35.54 mg/(kg·d). The positive detection rates of VABAM were 95.7% in DWI sequence, 26.1% in ADC sequence, 21.3% in FLAIR sequence, 4.3% in T2 sequence and 0 in T1 sequence. The detection rate of ADC sequence was significantly different from DWI sequence and T1 sequence, but not from T2 sequence and FLAIR group. ConclusionDWI sequence has irreplaceable advantages in the detection rate of VABAM. Therefore, for patients with infantile spasm and epileptic spasm who take vigabatrin, we should try our best to add DWI sequence scanning to improve the positive detection rate and avoid clinical symptoms, so as to avoid further brain damage.
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.
ObjectiveTo optimize the therapy protocols of high dose prednisone combined with topiramate (TPM) in children with infantile spasms (IS). MethodsSixty cases were collected in our hospital from September 2012 to September 2013 and randomly divided into two groups(n=30) and followed-up for more than 6 months.The spasms were assesses by video-electroencephalogram (VEEG) monitoring including awake and asleep states before treatment, after two weeks of therapy and the end of the courses respectively.And the Gessel developmental quotient (DQ) scores were performed before treatment and after six months of therapy. ResultsFor the unresponders to high dose prednisone in one week of therapy, there were 46.67%and 60.00% in test group higher than 31.25% and 37.50% in control group respectively in 2 week and in the end of treatment.And the rate of complete resolution of hypsarrhythmia in the test group was 46.67% and 60.00% higher than 25.00% and 37.50% in control group respectively in 2 week and in the end of treatment.But there were no statistical significances between two groups(P >0.05).The incidence of side effects(83.33% vs. 80.00%) and the relapse rate(39.14% vs. 40.00%), were not statistically significant between two groups(P >0.05).The responsive rates for the cases with the lead time within 2 months higher than beyond 2 months in two groups respectively in 2 weeks and in the end of treatment. ConclusionsThe protocol of the test group was superior to that of the control group.The responsive rates of children within 2 months of lead time were higher than beyond 2 months, which indicates that early diagnosis and early treatment would improve efficacy and have an important influence on the prognosis of IS.