Glyceryl phenylbutyrate in the treatment of argininosuccinate synthetase deficiency: a case report / 中华实用儿科临床杂志

Clinical data of a child with high blood ammonia and suspected argininosuccinate synthetase deficiency (ASSD) in Hunan Children′s Hospital were retrospectively analyzed, including data of mass spectra for blood amino acids and acyl carnitine, urine organic acid analysis and whole exome sequencing.After the exact diagnosis of ASSD and being approved by the Administrative Regulation for Import Medical Devices Urgently Needed in Boao Lecheng International Medical Tourism Pilot Zone of Hainan Free Trade Port, the patient was medicated with Glyceryl phenylbutyrate (GPB) and followed up.The patient was a boy aged 7 years and 8 months, who presented at the Neurology Department of Hunan Children′s Hospital for sleepiness, abnormal mental behavior and personality change for 1 week on December 2, 2021.Before GPB treatment, the highest blood ammonia, alanine aminotransferase and aspartate transaminase were 325.2 μmol/L, 465.7 IU/L and 277.3 IU/L, respectively.Genetic metabolism assay of blood and urine showed a significantly increased citrulline at 697.42 μmol/L; urine organic acid analysis showed increased urinary orotic acid at 144.2 μmol/L, and increased uracil at 65.1 μmol/L.A pure heterozygous variant of the ASS1 gene (c.1087C>T, p.R363W) was detected.After GPB treatment, the blood ammonia levels were 21.3 μmol/L, 54.6 μmol/L and 62.4 μmol/L on the 41 st, 90 th and 146 th days, respectively.Until July 20, 2022 follow-up visit, the patient recovered well without adverse events.This was the first ASSD child in China who was treated with GPB.This case report provided therapeutic experience of ASSD in our country.ASSD has a high mortality rate and unexplained abnormal mental behavior.It is necessary to timely measure blood ammonia, and a series of urea cycle disorders should be well concerned.The diagnosis and management of ASSD rely on the data of metabolism examination and genetic testing.

Update in immunomodulatory drug therapy for myasthenia gravis / 中华实用儿科临床杂志

Myasthenia gravis (MG) is an acquired autoimmune neuromuscular junction disease mediated primarily by anti-acetylcholine receptor antibody.Muscle-specific receptor tyrosine kinase antibody, low density lipoprotein receptor-associated protein 4 antibody and ranine receptor can also reduce the stability of acetylcholine receptors in the postsynaptic membrane and cause disease.The treatment of myasthenia gravis mainly includes symptomatic therapy, immunosuppressive therapy, immunoregulation and thymotomy.Immunosuppressive therapy is the main treatment of MG, but the long-term use of glucocorticoid (a hormone steroid) or a nonsteroidal immunosuppressant can bring about unwanted side effects and adverse events.To solve this problem, research progress of immunosuppressive drugs for treating MG was summarized in this paper.This article aims at finding the right treatment plan and explore the application value of new biological agents in MG treatment.

Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.@*METHODS@#A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents.@*RESULTS@#WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software.@*CONCLUSION@#Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.

Genetic analysis of a child with early onset neurodevelopmental disorder with involuntary movement and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM).@*METHODS@#A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients.@*RESULTS@#This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic.@*CONCLUSION@#The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.

Analysis of clinical phenotype and gene variation of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutation / 中华神经科杂志

Objective:To analyze the clinical phenotype and genotype characteristics of children with pyridoxine-dependent epilepsy (PDE) and provide evidence for diagnosis.Methods:Clinical data of 3 children with PDE enrolled in the Department of Neurology of Hunan Children′s Hospital from July 2016 to December 2020 were collected, and whole-exome sequencing (WES) was used for analysis. Pathogenic variants were analyzed and screened using bioinformatics tools combined with clinical phenotype. Sanger sequencing was used to analyze the source of mutations in children′s core family members.Results:Cases 1 (female) and 2 (male) were siblings, both of whom had convulsions within 24 hours after birth. WES results showed that the siblings carried compound heterozygous mutations of c.796C>T (p.R266 *) and c.1553G>C (p.R518T) in the ALDH7A1 gene, coming from the father and mother of the siblings respectively. Both of the mutations have been reported as pathogenic. Case 3, female, developed convulsions at the age of 1. WES results revealed that she carried compound heterozygous mutations of c.1094-109T>A and c.7C>T (p.R3C) in the ALDH7A1 gene, coming from her father and mother respectively. After searching HGMDPro, PubMed, 1000 Genomes, and dbSNP databases, both of the 2 mutations of c.1094-109T>A and c.7C>T (p.R3C) were not reported. The pathogenicity predictions of the 2 mutations were carried out by different biological information analysis software. The results showed that both of the mutations were harmful. All the 3 children had no epileptic seizures after treatment with increased doses of vitamin B6. Conclusions:When infants have unexplained convulsions, especially in the neonatal stage, PDE caused by ALDH7A1 gene mutation should be considered. Pyridoxine precision treatment has a good effect. The 2 de novo mutations of c.1094-109T>A and c.7C>T (p.R3C) enrich the mutation spectrum in the ALDH7A1 gene. WES has the auxiliary significance in the diagnosis of epilepsy.

Mitochondrial myopathy with ataxia caused by MSTO1 gene mutation: a family case report and literature review / 中华实用儿科临床杂志

The clinical characteristics and gene variations of a family with mitochondrial myopathy and ataxia caused by MSTO1 gene mutation who visited Xiangya Hospital of Central South University in October 2019 were retrospectively analyzed.The proband was an 11-year-old female, who was found to have delayed motor and language development and dysarthria at the age of 1 year and 6 months.The 9-year-old younger brother of the proband had similar symptoms at the age of 1 year and 3 months.Both the proband and her younger brother had muscle weakness and ataxia.Their head magnetic resonance imaging showed cerebellar atrophy, and their electromyography showed neuroge-nic changes.Genetic testing revealed compound heterozygous mutations in MSTO1: c.1259delG; p.G420VfsX2 and c.571 C > T; p.R191X, which were inherited from their parents, respectively.The same site mutations were found in the younger brother.After 2 weeks of " cocktail therapy" , the symptoms of the children were alleviated, and their language and movement improved.

Application of lacosamide in sodium channel-related epilepsy in young infants / 中华神经科杂志

Objective:To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation, and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods:Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected, including the symptoms, comprehensive physical examination, blood, cerebrospinal fluid, imaging, electrophysiological examination, diagnosis and treatment process, response to treatment and other clinical data, as well as the sequencing results of the whole exome of the children. The efficacy and safety of lacosamide were analyzed, and the related literatures of the Biomedical Literature Database, Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results:Both of the 2 cases were girl. Their onset age was within 3 months. The initial symptoms were frequent convulsions and backward development. There was no structural abnormality in the head image. The convulsions could not be controlled according to conventional multidrug treatment. The seizures were quickly controlled with lacosamide. Now they have been followed up for 6 months. No obvious adverse reactions were found. Case 1 gene test results showed the SCN2A gene (chr2:166152333-166246334) heterozygous deletion, SCN1A gene (chr2:166847754-16693013) heterozygous deletion, the deletion size being about 5.72 Mb. Case 2 gene test results showed new missense mutation of SCN2A (c.1285G>A, p.Glu429Lys). There were dozens of seizures every day. They were treated with valproic acid, oxcarbazepine and levetiracetam successively. The seizures could not be controlled. Three focal seizures originated in the left temporal region were detected by electroencephalogram. There was no recurrence on the third day after adding lacosamide, and there was no attack after 5 months of follow-up. No obvious adverse reactions were found during follow-up.Conclusions:Sodium channel related epileptic encephalopathy often starts early, has frequent seizures, and can be accompanied by backward psychomotor development at the same time. The slow sodium channel blocker lacosamide has good efficacy and safety in the treatment of sodium channel-related epilepsy with SCN2A gene mutation or combined SCN1A gene mutation.

Immunotherapy and prognosis of autoimmune encephalitis / 中华实用儿科临床杂志

Autoimmune encephalitis(AE) is one of the most rapidly developing research fields in pediatric neurology.Previous studies have indicated that delayed-use or non-use of immunotherapy will lead to poor prognosis.Therefore, this article summarizes the current opinion of immunotherapy and prognostic factors for AE in order to provide treatment guidance for clinicians.

Diagnosis and treatment of 12 cases of febrile infection-related epilepsy syndrome / 中国医师杂志

Objective To investigate the clinical features,diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES).Methods The clinical data of 12 children with FIRES admitted to Xiangya Hospital of Central South University from 2015 to 2018 were retrospectively analyzed.The basic information,clinical manifestations,electroencephalogram,imaging examination,treatment and prognosis were analyzed.Results Of the 12 patients,7 were male and 5 were female.The age of onset was (7.0 ± 3.7)years (1.3 year to 13 years).The average hospitalization time (34-86 days,median 52 days).Twelve patients were healthy before the disease,and had fever before convulsion.The interval between fever and seizure was (3.5 ± 1.7) days (1-7 days).The status epilepticus and consciousness deficit were the main clinical manifestations.The electrogram of 8 patients showed status epilepticus when admitted.12 patients had disturbance of consciousness;the acute episodes were focal seizures (100％,12/12) and generalized tonic-clonic seizures (41.7％,5/12).All patients used 3-5 antiepileptic drugs (median 4),all treated with hormones and gamma globulin.4 patients with ketogenic diet (KD) were treated within 2 weeks of onset,and the average duration from onset to electroencephalogram (EEG) improvement was (19.2 ± 5.0)days.In 8 patients who did not use KD within 2 weeks of onset,the average duration from onset to EEG improvement was (29.9 ± 9.6) days.Conclusions FIRES is more common in normal children with school age.The main manifestation is refractory status epilepticus in the days after acute fever,focal episodes of seizures,anti-epileptic drug resistance.Early initiation of KD produces a favorable prognosis.

ORAI1 variation induced combined immunodeficiency: a case report and literature review / 中华儿科杂志

Objective@#To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review.@*Methods@#The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed.@*Results@#The patient was a 15 months old girl with acute onset of bilateral ptosis after upper respiratory tract infection, which was rapidly progressed to systemic myasthenia and accompanied with recurrent respiratory tract infection during the treatment. The patient poorly to responded immunomodulatory therapy and anti-infection therapy. Laboratory tests demonstrated decreased complement C3 and NK cell (CD3-CD56+), increased anti-thyroglobulin, thyroid peroxidase antibody and B lymphocyte (CD3-CD19+), and slightly increased anti-acetylcholine receptor antibody. Genetic analysis showed the homozygous variation of ORAI1 gene exon l c.12 G>T (p.E4D), with heterozygostty of both parents. There were only 4 papers reporting this disease in the literature review. A total of 7 patients with ORAI1 gene variation were reported, including 3 homozygous variations, 2 heterozygous variations and 2 complex heterozygous variations. The clinical manifestations included early onset recurrent infection, congenital hypotonia, elevated serum IgA and IgM, decreased NK cells, and family history of hereditary diseases. Four of the 7 reported cases died of pulmonary infection and sepsis, and the other 3 survived with low muscular tone and poor self-care ability.@*Conclusions@#The most common clinical manifestations of ORAI1 variation caused combined immunodeficiency are recurrent infection and congenital hypotonia. Myasthenia induced recurrent respiratory tract infection is an important factor of poor prognosis in severe patients. There is a lack of effective treatment for this disease, and the prognosis is poor.

Clinical analysis of 71 cases of anti-N-methyl-D-aspartate receptor encephalitis in children / 中华儿科杂志

Objective@#To investigate the clinical features, treatment strategies and long term outcomes of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.@*Methods@#The data of clinical features, auxiliary examinations, treatments and prognosis in children with anti-NMDAR encephalitis in Xiangya Hospital of Central South University from March 2014 to October 2017 were collected and retrospectively analyzed. A total of 71 patients were enrolled, including 33 males and 38 females. The youngest age of onset was 4 months old, and the age of onset was (9±4) years. The first-line immunotherapy treatment for anti-NMDAR encephalitis was short course corticosteroid (high-dose impulse therapy and oral maintenance therapy for 1 month in acute period) and (or) immunoglobulin. The clinical evaluation was performed 2 weeks after first-line immunotherapy treatment. The second-line immunotherapy treatment, including rituximab and (or) cyclophosphamide, would be started if the symptoms did not improve significantly and the modified Rankin scale (mRS) score ≥3. All patients were followed up and evaluated for prognosis. T-test, Mann-Whitney U, Chi square test and Fisher′s exact probability method were used for comparison between good outcome group and poor outcome group, first-line immunotherapy group and first-line immunotherapy combined with second-line immunotherapy group.@*Results@#The more common clinical manifestations were psychiatric symptoms (n=61, 86%), dyskinesia (n=55, 77%) and convulsions (n=51, 72%). Two cases (3%) had tumors. Electroencephalogram (EEG), cerebro-spinal fluid (CSF) and brain magnetic resonance imaging (MRI) studies were abnormal in 83% (59/71), 39% (27/69) and 38% (27/71) patients, respectively. For the treatment regimens, all the 71 patients underwent first-line immunotherapy, resulting in improvement within 14 days in 40 cases (56%), and 1 case (1%) died. The rest 30 cases (42%) received second-line immunotherapy. The patients were followed up for 5.0-41.8 months, with a median of 19.3 months. At the last follow-up, 49 cases (69%) recovered completely, 15 cases (21%) had mild disability, 6 cases (8%) had severe disability, 1 case (1%) died and 3 cases (4%) had relapse. There were significant differences between the groups with good prognosis and poor prognosis on admission to pediatric intensive care unit (PICU) and consciousness disorder (10/64 vs. 5/7, 39/64 vs. 7/7, P=0.047, 0.004). There were significant differences between first-line immunotherapy group and the first-line combined second-line immunotherapy group on admission to PICU, consciousness disorder, sleep disorder and first mRS score (12% (5/41) vs. 33% (10/30), 44% (18/41) vs. 93% (28/30), 56% (23/41) vs. 90% (27/30), 3 (1-5) vs. 4 (3-5), respectively; χ2=4.645, 18.555, 9.560, Z=5.184, P=0.031, <0.01, 0.002, <0.01, respectively).@*Conclusions@#Anti-NMDAR encephalitis can occur in all ages of children. The most common clinical manifestations are psychotic symptoms, dyskinesia and convulsions. Paraneoplastic cases are less common in children. Immunotherapy is effective. The second-line immunotherapy should be given after the failure of first-line therapy (mRS score≥3).

Diagnosis and treatment of 12 cases of febrile infection-related epilepsy syndrome / 中国医师杂志

Objective@#To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES).@*Methods@#The clinical data of 12 children with FIRES admitted to Xiangya Hospital of Central South University from 2015 to 2018 were retrospectively analyzed. The basic information, clinical manifestations, electroencephalogram, imaging examination, treatment and prognosis were analyzed.@*Results@#Of the 12 patients, 7 were male and 5 were female. The age of onset was (7.0±3.7)years (1.3 year to 13 years). The average hospitalization time (34-86 days, median 52 days). Twelve patients were healthy before the disease, and had fever before convulsion. The interval between fever and seizure was (3.5±1.7)days (1-7 days). The status epilepticus and consciousness deficit were the main clinical manifestations. The electrogram of 8 patients showed status epilepticus when admitted. 12 patients had disturbance of consciousness; the acute episodes were focal seizures (100%, 12/12) and generalized tonic-clonic seizures (41.7%, 5/12). All patients used 3-5 antiepileptic drugs (median 4), all treated with hormones and gamma globulin. 4 patients with ketogenic diet (KD) were treated within 2 weeks of onset, and the average duration from onset to electroencephalogram (EEG) improvement was (19.2±5.0)days. In 8 patients who did not use KD within 2 weeks of onset, the average duration from onset to EEG improvement was (29.9±9.6)days.@*Conclusions@#FIRES is more common in normal children with school age. The main manifestation is refractory status epilepticus in the days after acute fever, focal episodes of seizures, anti-epileptic drug resistance. Early initiation of KD produces a favorable prognosis.

Application of ventricular shunt for children with post-infective hydrocephalus / 中南大学学报(医学版)

To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus.
 Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed.
 Results: Of the 24 cases, 8 had a full recovery, 11 had slight sequela, 2 had severe sequela, 1 was in vegetative state, and 2 died because of bacterial meningitis and tubercular meningitis. Epilepsy, mental impairment, visual and hearing damage were the main sequelae.
 Conclusion: Ventricular shunt is the preferred treatment in children with post-infective hydrocephalus, which shows positive clinical efficacy and can improve the long-term prognosis of such patients.

Clinical analysis of 11 children with variants of Guillain-Barré syndrome / 中南大学学报(医学版)

From November, 2010 to February, 2018, 11 children with variants of Guillain-Barré syndrome (GBS) were treated in Xiangya Hospital of Central South University. Clinical manifestations included cranial nerve involvement in 9 cases, limb weakness in 9 cases, ataxia in 8 cases, abnormal sensation in 7 cases, weakened or disappeared tendon reflex in all cases, albuminocytologic dissociation of cerebrospinal fluid in 6 cases, and neurogenic changes in electromyography in 8 cases. Immune globulin and steroids were given to 5 cases and 1 case, respectively, while the combination of immune globulin with steroids was given to 1 case, and symptomatic treatment was given to 4 cases. All treatments were effective, remaining no apparent side effect for nervous system. The diagnosis of GBS variants was based on clinical manifestation. Patients who had cranial nerve involvement, ataxia and weakened or disappeared tendon reflex should be paid attention. Albuminocytologic dissociation of cerebrospinal fluid and electromyography were helpful to diagnosis. GBS variants were self-limited disease. Immunotherapy can ease the patients' critical condition.

A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation / 中华儿科杂志

Objective@#To report a family diagnosed with Allan-Herndon-Dudley syndrome (AHDS) due to SLC16A2 gene mutation and to summarize the phenotypes, genotypes, diagnosis, treatment, and prognosis.@*Methods@#The clinical features of a family of AHDS diagnosed in Xiangya Hospital of Central South University in November 2017 were analyzed. Related literature was searched at Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang database (from the establishment of databases to June 2018) by using "Allan-Herndon-Dudley syndrome" , and "AHDS" as keywords and the case reports from April 2013 to June 2018 were reviewed.@*Results@#The proband was a boy aged 8 months who presented with global developmental retardation, inability to hold up the head, disability to sit independently or grab, no language development, elongated face, big ears, esotropia, scoliosis, hypotonia in the trunk, hypertonia in extremities, and hyperreflexia. Brain magnetic resonance imaging (MRI) showed widening of the extracerebral space and delayed myelination. Thyroid function tests revealed increased FT3, decreased FT4 and normal TSH. Whole exome sequencing (WES) revealed the SLC16A2 gene c.431-1 (IVS1) G>C hemizygous mutation. The infant's mother and grandmother are carriers, but whose father had no related mutation. One uncle from maternal side had severe psychomotor retardation as well as dystonia and died at one year of age with unknown etiology. A total of 97 articles were retrieved in which 19 case reports were reviewed. Forty-two cases (22 from 8 families and 20 sporadic) were reported. Among these 42 cases (all males), all of them presented with moderate to severe cognitive dysfunction, 15 with seizures; 36 were bedridden, only 4 could walk; 31 had no language development, 2 could speak sentences, 4 could speak few words, 1 had babbling sounds. Furthermore,16 had microcephaly, 18 had facial dysmorphism, 6 had esotropia, 2 had hearing loss,14 had scoliosis, 11 had joint contracture, 30 had low body weight/muscle wasting, 37 had hypotonia in trunk or extremities, 32 had progressive spastic paraplegia or hypertonia. In terms of thyroid function, 33 had abnormal results, within whom 30 had increased T3, 25 had decreased T4 and 3 had increased TSH. Brain MRI showed delayed myelination in 22 cases, within which one normalized with development. Genetic tests showed that 31 had missense mutation (14 sporadic), 5 had deletion mutation (3 sporadic, and 1 due to frameshift mutation), 5 had insertion mutation (2 sporadic), and 1 had repeated mutation. The prognosis was poor as patients often died of recurrent respiratory tract infection.@*Conclusions@#The main clinical manifestations of AHDS are severe global developmental retardation, hypotonia, spastic paraplegia, abnormal serum levels of thyroid hormone and delayed brain myelination. SLC16A2 c. 431-1 (IVS1) G > C mutation is accountable for this disease.

Pathogenic and diagnostic analysis of bacterial meningitis children in the Midwest area / 中华实用儿科临床杂志

Objective To investigate the diagnostic analysis and pathogenic characteristics of bacterial meningitis (BM) in children in Midwest area in China.Methods Clinical and pathogenic data of inpatients with BM were analyzed retrospectively at Xiangya Hospital,Central South University and Children's Hospital of Chongqing Medical University,including age,gender,index of peripheral inflammation,cerebrospinal fluid routine,biochemistry,culture,drug sensitivity and image change.Results In total,446 cases with BM were analyzed in this study.The male-to-female ratios was 1.67:1.00.Peripheral blood detected abnormal ratios of white blood cell (WBC),C reactive protein(CRP)and procalcitonin (PCT) which were 67.7％ (302/446 cases),64.9％ (268/413 cases) and 71.7％ (279/389 cases),respectively.Cerebrospinal fluid detected abnormal ratios of WBC count,glucose and protein,which were 76.5％ (332/434 cases),71.2％ (306/430 cases) and 91.7 ％ (397/433 cases),respectively;79.4％ of the patients revealed abnormal head CT/MRI image.Bacterial culture positive rate was 33.6％ (150/446 cases),and the positive rates of abnormality in peripheral blood WBC,CRP,PCT or cerebrospinal fluid WBC,glucose and protein were 34.9％ (116/332 cases),34.8％ (138/397 cases),36.6％ (112/306 cases),respectively,which were higher than the normal patients,who were 29.4％ (30/102 cases),25.0％ (9/36 cases),21％ (26/124 cases),respectively.The most common pathogenic bacteria were Streptococcus pneumoniae,Escherichia coli and coagulase negative staphylococcus.Infants within one year presented dominantly with infection of Escherichia coli,accounting for 26.6％ (29/109 cases).Children above 1-year-old presented dominantly with Streptococcus pneumoniae,accounting for 61.0％ (25/41 cases).A drug-resistance phenomenon was common among pathogenic bacteria.Conclusion Abnormality in peripheral blood WBC,CRP,PCT or cerebrospinal fluid WBC,glucose and protein,and subdural effusion/empyema can help the early diagnosis and differential diagnosis of BM.The most common pathogenic bacteria in Midwest area of China are Streptococcus pneumoniae,Escherichia coli and coagulase negative staphylococcus,which suggests recommend the application of Streptococcus pneumoniae vaccine.Drug-resistance phenomenon to pathogens is very common.For the treatment strategy,it should be made and adjusted timely according to the drug sensitivity and common hospital antimicrobial spectrum.

Clinical features and treatment of epilepsy with myoclonic-atonic seizures in children / 中华实用儿科临床杂志

Objective To summarize the clinical features,treatment and prognosis of epilepsy with myoclonic-atonic seizures (MAE),in order to provide the data for treatment choice.Methods The clinical data of 7 cases diagnosed as MAE between June 2014 and February 2017 from Department of Pediatrics,Xiangya Hospital of Central South University,were obtained and analyzed.The clinical data included gender,onset age,seizure types,electroencephalography (EEG) pattern,brain magnetic resonance imaging (MRI),genetic testing,treatments,outcome,and so on.Results In 7 cases,5 cases were male and 2 cases were female.Ages of onset were 16 months to 52 months.All patients had myoclonic-atonic and myoclonic seizures.Background EEG activity showed diffuse slow delta waves in all patients.The EEG recordings showed 1.5-3.5 Hz generalized spike-and-wave and polyspike-and-wave in all cases.Chromosome testing,copy number variations (CNVs) and exome-sequencing studies (trios) were performed in 3 cases,in which 1 case was found normal,1 case had mutation for CLN6 (c.434A ＞T) and 1 case had mutation for SLC6A1 (c.714 + 1G ＞ A) were found.Six cases were seizure-free.Seizures were controlled by combination of antiepileptic drugs (AEDs) in 2 cases.The seizures of 2 cases were controlled by adrenocorticotropic hormone (ACTH) and AEDs.The seizures of 2 cases were controlled by ketogenic diet (KD) and AEDs,and 1 case experienced a seizure reduction.Seven patients showed better EEG findings after treatment.Cognitive decline was observed in all cases.Conclusion Diagnosis of MAE relies on the clinical manifestations of epileptic seizures,EEG findings,as well as neurological manifestation.Genetic factors have been considered to play an important role in the etiology of MAE.Combination of Valproate and other AEDs is effective in drug treatment.KD and ACTH have been shown to have superior efficacy compared with traditional medical treatment.

Analysis for the effect of different regimens on ocular myasthenia gravis in children / 中南大学学报(医学版)

Objective:To evaluate the efficacy,recurrent risk factors and transferable ratio of treatments with 3 different regiments on children with systematic myasthenia gravis (MG).Methods:The data of 104 children with ocular MG from June 2010 to March 2014 were collected from Department of Pediatric Neurology of Xiangya Hospital and they were retrospectively studied.The patients were divided into 3 groups:a methylprednisolone group (n=44),a prednisone group (n=48) and a bromine pyridostigmine group (n=12).Evaluative system from American MG foundation was used to evaluate the efficacy of treatment and the ratio of ocular MG transformed into systematic MG.Results:The efficacy in the methylprednisolone group was better than that in the prednisone group,and both of them were better than that in the bromine pyridostigmine group (both P＜0.05).Methylprednisolone,prednisone combined with bromine pyridostigmine could reach a better long-term efficacy in children with ocular MG.Early treatment with glucocorticoid could reduce clinical relapse.Conclusion:A treatment with high-dose methylprednisolone pulse can improve early clinical remission in children with ocular MG.However,there is a similar efficacy in the long run of different glucocorticoid therapeutic regiments.A relatively order onset age,infection and thyroid dysfunction are recurrent risk factors in children with ocular MG.

Conversation analysis in differential diagnosis between epileptic seizure and psychogenic nonepileptic seizure / 中华神经科杂志

Objective To find out whether conversation analysis helps to differentiate psychogenic nonepileptic seizure (PNES) from epileptic seizure in Chinese patients.Methods Twelve unselected patients from Peking Union Medical College Hospital during 2014 to 2016 with diagnostic uncertainty were included.Interactions following standard protocol were carried out.A linguist blinded to all medical data and a neurologist studied videos and transcripts of the interactions.Using a diagnostic scoring aid which includes 17 conversation features summarized from previous researches, they attempted to predict the medical diagnosis of those patients independently.Results Accurate diagnosis was predicted in 10/12 patients by both raters.Average scores of patients with epileptic seizures were 8.00 (linguist) and 6.75 (neurologist), while average scores of paitents with PNES were-5.75 (linguist) and-7.88 (neurologist).Both raters agreed on most individual items (81.86%, 167/204).To demonstrate different features between these two groups, a case comparison was made between one patient with frontal lobe epilepsy and one patient with PNES.Conclusion In Chinese patients, conversation analysis can help differentiate between epileptic seizure and PNES.

Hemispherotomy for hemisphericepilepsy: outcome and early follow up for complications / 基础医学与临床

Objective To investigate the results and complications of hemispherotomy for drug resistant hemispheric epilepsy.Methods The authors reviewed 5 patients who were diagnosed as drug resistant hemispheric epilepsy and operated in the neurosurgery department of Peking Union Medical College Hospital from 2011 to 2013.All the 5 patients were underwent hemispherotomy after carefully multidisciplinary pre-operation evaluation.Results All patients tolerated the procedure well and the postoperative course was smooth.All the 5 patients didn`t have seizure in the period of following up of 46 to 69 months.Conclusions According to literatures and the authors` experience, hemispherotomy is as safe and efficient for hemispheric epilepsy as hemispherectomy.It is most important advance for hemispherectomy.The procedure of hemispherotomy is complex but not very difficult, illustrating a good prospect of application and extension.