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Objective:To improve clinicians′ understanding of developmental and epileptic encephalopathy (DEE) caused by PPP3CA gene mutation. Methods:Clinical data of a patient with DEE diagnosed in the First Department of Neurology, Hebei Children′s Hospital in September 2018 were collected. The whole-exome sequencing of the proband′s family was performed, and the characteristics of gene mutation were analyzed. Literature review was carried out based on the reported cases related to PPP3CA gene. Results:The proband, a 3 months and 20 days old girl, was admitted to the hospital with a history of paroxysmal confusion with extremities shaking for 2 days. The clinical manifestations included frequent epilepsy seizures and hypoevolutism. Brain magnetic resonance imaging showed that the bilateral frontotemporal extracerebral space was slightly wider. The video electroencephalography showed hyperarrhythmia and a cluster of spastic seizures. Whole exome sequencing of the family revealed that the proband had a heterozygous de novo frameshift truncating mutation in the PPP3CA gene: c.1255-1256delAG (p.Ser419Cysfs*31). From the establishment of the database to May 2022, 8 foreign literatures and 1 Chinese literature were retrieved, and a total of 21 children with PPP3CA gene mutation were reported, with clinical developmental delay, cognitive dysfunction and abnormal electroencephalography activity. Conclusions:The frameshift truncating mutation of the PPP3CA gene (c.1255-1256delAG) is the hereditary etiology of this patient. For cases of frequent seizures with poor efficacy of antiepileptic drugs, and developmental delay, genetic testing should be performed to confirm diagnosis and treatment.
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Objective:To summarize the clinical features and treatment of voltage-gated sodium channel α2-subunit (SCN2A) gene-related epilepsy.Methods:The clinical manifestion, video electroencephalography, head magnetic resonance imaging of a child diagnosed with epilepsy in Hebei Children′s Hospital were analyzed. Additionally, blood samples of the family were tested for the whole exome sequencing.Results:The boy aged 20 months,had been developed backward since childhood and accompanied by autism spectrum disorder manifestations. Seizures occurred at 19 months, manifested as isolated and clusters of spasms or generalized tonic seizures. The whole exome sequencing of the family revealed that the proband had c.4543C>T heterozygous mutation in the SCN2A gene, and both parents showed wild type. The effect of multiple anti-epileptic drugs on the children was not good, but the epilepsy was controlled after the final addition of perampane.Conclusions:The c.4543C>T heterozygous variant of SCN2A gene is the cause of disease in this child. This variant can cause epilepsy with autism spectrum disorder. The location and type of SCN2A mutations are strongly related with phenotypes, and a clear genetic etiology contributes to accurate treatment of children.
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Objective:To investigate the expression level and significance of peripheral lymphocyte immunity and humoral immunity in children with autoimmune encephalitis and children with mycoplasma encephalitis.Methods:From July 2018 to July 2019, 52 children with autoimmune encephalitis (autoimmune encephalitis group) and 68 children with mycoplasma encephalitis (mycoplasma encephalitis group) in Hebei Children′s Hospital were enrolled, and 43 children with mycoplasma infection who were treated at the same time were selected as control group. Serum immunoglobulin (IgA, IgG, IgM) levels were detected using a fully automated biochemical analyzer, and peripheral T-lymphocyte subsets (CD 3+, CD 4+, CD 8+, CD 4+/CD 8+) levels were measured using flow cytometry. The receiver operating characteristic (ROC) curve was used to analyze the clinical differential diagnostic value of serum immunoglobulin and T lymphocyte subsets indicators for autoimmune encephalitis and mycoplasma encephalitis. Results:The levels of serum IgA, IgM in three groups had significant differences ( P<0.05); the levels of serum IgA, IgM in mycoplasma encephalitis group were significantly higher than those in autoimmune encephalitis group and control group [(1.64 ± 0.56) g/L vs. (1.23 ± 0.48),(0.82 ± 0.25) g/L; (1.81 ± 0.45) g/L vs. (1.56 ± 0.48), (1.12 ± 0.34) g/L]( P<0.05); the level of IgG in three groups has no significant difference ( P>0.05). The levels of CD 4+,CD 8+ in mycoplasma encephalitis group were significantly higher than those in autoimmune encephalitis group and control group [(31.21 ± 3.86)% vs. (28.76 ± 3.57)%, (26.58 ± 3.49)%; (26.86 ± 1.89)% vs. (25.90 ± 2.16)%, (24.71 ± 2.46)%]( P<0.05); the level of CD 4+/CD 8+ in three groups has no significant difference ( P>0.05). The areas under the curve of serum IgA, IgM, CD 3+, CD 8+, CD 4+ and five combined diagnosis were 0.971, 0.835, 0.833, 0.631, 0.706 and 1.000. The optimal critical values were 1.255 g/L, 1.465 g/L, 57.435%, 26.456%, 29.750% and 1.858. The sensitivity was 100.0%, 64.7%, 95.6%, 92.6%, 69.1% and 100.0%, and the specificity was 95.6%, 57.0%, 57.1%, 23.4%, 36.4% and 100.0%. Conclusions:The expression levels of serum IgA, IgM and peripheral serum CD 3+, CD 4+ and CD 8+ in children with autoimmune encephalitis are significantly lower than those in children with mycoplasma encephalitis, and IgA, IgM, CD 3+, CD 8+ and CD 4+ has high differential diagnosis value.
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Objective@#To investigate the pathogenic characteristics of viral encephalitis in children living in Hebei province.@*Methods@#We randomly collected cerebrospinal fluid specimens from a total of 399 children diagnosed with viral encephalitis in Hebei Children′s Hospital from May to December 2017. Real-time fluorescence quantitative PCR and Sanger sequencing were used to detect viral nucleic acids in cerebrospinal fluid by an automatic laboratory station. Statistical analysis was performed on the experimental data using SPSS 21.0 software and the clinical data were analyzed. Comparison of infection rates of EV encephalitis in different months, using line × column chi-square test. The MRI and EEG positive rates of different viral encephalitis and viral encephalitis patients not infected with the virus were analyzed by Fisher′s exact probability test. The positive rate of infection with different viruses and non-virus agents was analyzed by Fisher′s exact probability test.@*Results@#The result showed that 80 of 399 samples were positive, and the positive rate was 20.05%. It included 22 cases of enterovirus, 4 cases of influenza A virus, 3 cases of mumps virus, 2 cases of herpes simplex virus type 1, 1 case of herpes simplex virus type 2, 4 cases of EB virus, 7 cases of cytomegalovirus, 7 cases of herpes zoster virus, 8 cases of adenovirus, 14 cases of human herpesvirus type 6. Eight cases had combined viral infection. Eight cases had concurrent infections: 3 cases had enterovirus and herpesvirus type 6 concurrent infection, 1 case had enterovirus and Japanese encephalitis virus concurrent infection and 1 case had herpes simplex virus type 2 and adenovirus, 1 case had influenza A virus herpesvirus type 6, 1 case had mumps virus and herpesvirus type 6, 1 case had mumps virus and herpesvirus type 6, 1 case had herpes simplex virus type 1 and herpes zoster virus concurrent infections. Children with EV viral encephalitis in Hebei Province were highly prevalent in May and June (P=0.016). HHV6 virus encephalitis was more susceptible to infection than non-HHV6 virus (P=0.016); The rate of MRI positive findings in patients with different viral encephalitis was not statistically significant (P>0.05). The result of EEG of different viral encephalitis were P>0.05, which was not statistically significant.@*Conclusions@#EV was the most common pathogen of children with viral encephalitis in Hebei province. Encephalitis caused by influenza A virus cannot be ignored in clinical practice.
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Maxillary sinus augmentation is an effective procedure to gain bone height for implant placement in an atrophic posterior maxilla. But maxillary sinus diseases are prevalent in patients scheduled for sinus lift procedures. The presence of these diseases may increase the difficulties in performing the surgery and the risk of developing postoperative complications. This paper summarizes and introduces the common maxillary sinus mucosa diseases related to maxillary sinus augmentation.
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Objective@#To investigate the clinically and genetic characteristics of children with Leigh syndrome.@*Method@#Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis.@*Result@#Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation.@*Conclusion@#LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.
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Objective To explore the characteristic and clinical value of Somatosensory Evoked Potential SEP and event?related potential P300 in patients with Juvenile Myoclonic Epilepsy (JME), trying to provide neuroelectrophysiological evidence for the pathogenesis, diagnosis and antiepileptic drug efficacy of this disease . Methods 28 patients with JME and 30 healthy controls were enrolled in the research. They were applied the SEP and P300 before and after one year treatment. Results (1) The amplitude of SEP in patients with JME was significantly higher than those in the control group(P=0.000), the abnormal rate was 75%(21/28), while the latency of SEP was no significant difference (P>0.05); The latency of P300 in patients with JME was significantly longer (P = 0.000), 2 out of 28 cases were poorly differentiated, 9 cases were longer (11/28, 39%), while the P300 amplitude was no significant difference(P=0.110). (2) After treatment, the amplitude of SEP was significantly lower (P<0.05), the latency of P300 was significantly shorter (P=0.001). (3) The amplitude of SEP had a positively linear relationship with the latency of P300 (r = 0.818, P = 0.000). Conclusions The SEP amplitude was significantly higher in patients with JME, often accompanied by a huge SEP, so SEP can provide electrophysiological evidence for the pathogenesis and diagnosis of this disease.And P300 may give a chance to find the subclinical cognitive abnormalities and to intervent it early. The SEP had a positively linear relationship with the P300, simultaneously dynamic monitoring the change of SEP amplitude and P300 latency may become an objective evaluation for the antiepileptic drug efficacy.
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Objective To provide useful information for the diagnosis and differentiation through exploring the tumor with polyserositis as the initial symptom.Methods There was a case present with fever,poor spirit,abdominal distention and edema in Children's Hospital of Hebei Province.The characteristics and results of physical examination were summarized and discussed according to the condition evolution phases.The possible etiological factors were analyzed.The treatment was adjusted.Further physical examination was improved.The final diagnosis was tracked.Results After getting admitted to hospital,the patient received CT scan and ultrasound examination for many times.The results suggested the pericardial effusion,pleural effusion,peritoneal effusion and cardiac insufficiency.The child had made a slight improvement through treatment.However,he had hemiparesis.Cerebral infarction was demonstrated through magnetic resonance imaging(MRI),magnetic resonance angiography (MRA),magnetic resonance venography (MRV).Ultrasound showed that there was more pericardial effusion,aortic root solid low echo mass,pulmonary arterial wall stiffness,left and right pulmonary artery blood flow speed increased.Neck and chest enhanced CT showed mediastinal lesions.Pathology examination results suggested myeloid sarcoma after referral to superior hospital.Conclusions When children had an unexplained polyserositis,more comprehensive analysis were needed.The illness condition should be explained with Monism as far as possible.Repeated inspections would be necessary when the pathogenesis was not clear.Careful watch for the tumor should be kept.
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Objective To study the EEG discharge index, intelligence test and event-related potential P300 in BECT, and to analyze the change of EEG discharge index and cognitive function before and after the treatment.Methods Sixty patients with BECT were enrolled in this study, they were treated with EEG, intelligence tests and P300 before and after the treatment.Results (1) The EEG discharge index were reduced remarkly after treatment in BECT with levetiracetam and lamotrigine, the difference was statistically significant (P ＜ 0.05).(2) Comparing before and after 3 or 6 months treatment, the latency of P300 had reduced with significant difference (P ＜ 0.05).(3) After 3 months treatment, VIQ and FIQ has no obvious improvement, but PIQ has improved.After 6 months treatment, VIQ、 PIQ and FIQ were improved.The difference was statistically significant (P ＜ 0.05).(4) There was a negative correlation of EEG P300 latency (r =0.175), as well as there was a negative correlation between EEG discharge index and intelligence test (r =0.044).Conclusion There is impaired cognitive function in BECT, especially the more frequently the EEG discharge, the more extended of P300 latency, as well as the more serious damage of intelligence and cognition after treatment.The intelligence were improved after treatment with Levetiracetam and lamotrigine, the longer the treatment time, the more obvious of intelligence levels improve.
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Objective To estimate the immune function changes of zonisamide treatment as a new antiepileptic drug monotherapy on epileptic children.Methods Forty children with epilepsy (25 girls and 15 boys,aged from 1 to 6 years old) were enrolled in the Children' s Hospital of Hebei Province as our subjects and they were followed 3 and 6 months after treatment.The venous blood sample was collected respectively from the children on empty stomach.Applying automatic biochemical analyzer to detect serum immunoglobulin.IgG,IgA,IgM through immune turbidimetry methods.While CD3,CD4,CD8 were detected through the application of flow cytometry.Results Compared with the healthy control group,IgA,IgG,CD8 levels increased and the level of CD3,CD4 decreased in epileptic children and there were significant differences (F=160.94,262.66,539.09,634.36,164.27;P＜0.05).The level of IgM between epilepsy group and control group did not showed difference (P＞0.05).After 3 months and 6 months treatment of zonisamide,the level of IgA,IgG,CD8 were decreased,while CD3,CD4 levels increased than those in epilepsy group before treatment (P＜ 0.05).Conclusion Zonisamide may play a role of the antiepileptic mechanism by improving children' s immune function.
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Objective To investigate the effect of zonisamide as a new antiepileptic drug on nitric oxide (NO) content and nitric oxide synthase (NOS) activity in serum and brain tissue of epileptic rats. Methods Eight healthy rats were used as normal control group, and twenty-four epileptic rats induced by pentrazol were randomly divided into epilepsy model group, zonisamide group and phenobarbital group. Levels of NO and malondialdehyde (MDA) content, NOS and superoxide dismutase (SOD) activity in serum and brain tissue were detected in four groups. Results Forty-two rats were injected pentrazol, and 35 (83%) rats were established the rat model successfully. Epileptic waves were visible in EEG of epileptic rats. The concentrations of NO, MDA and the activity of NOS in serum and brain were significantly increased, the activity of SOD was significantly decreased, in epileptic rats than those of control rats. The concentrations of NO and MDA were significantly increased; the activity of SOD was significantly decreased, in brain in phenobarbital group compared with those of control group. There were significantly lower levels of NO, MDA and NOS, and significantly higher level of SOD in serum and brain tissue in zonisamide group and phenobarbital group than those of epileptic model group (P＜0.05). Conclusion Zonisamide plays an antiepileptic role by reducing the concentration of NO in brain of epileptic rats.