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    15 March 2021 Volume 39 Issue 3
      
    The value of receptor interacting protein 3 in the diagnosis of neonatal sepsis
    GAO Chuchu, WANG Sannan, FU Kai, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  167.  doi:10.3969/j.issn.1000-3606.2021.03.002
    Abstract ( 332 )   PDF (1235KB) ( 141 )  
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    Objective To Explore the value of receptor interacting protein 3 (RIP 3 ) in the diagnosis of neonatal sepsis. Methods A total of 36 children with sepsis admitted to the neonatal department from September 2019 to May 2020 were included in the sepsis group, and 36 children with non-infectious diseases during the same period were used as the control group. The plasma RIP 3 level was detected by enzyme-linked immunosorbent assay (ELISA), C-reactive protein (CRP) was detected by immunoturbidimetry, and platelet count (PLT) was performed by automatic hematology analyzer. The differences of RIP 3 , CRP and PLT were compared before and after treatment and between the two groups, and the diagnostic value of the above three indicators for sepsis was evaluated by ROC curve. Results The difference of RIP 3 , CRP and PLT were statistically significant (P< 0 . 05 ) before and after treatment in sepsis group and between the sepsis group and the control group. The levels of RIP 3 and CRP before treatment in the sepsis group were higher than those after treatment and in the control group, and the PLT level was lower than that after treatment in the control group, and the differences were statistically significant (P< 0 . 05 ). When RIP 3 ≥ 15 . 91 ng/mL, CRP> 8 mg/L, and PLT< 100 × 109 /L, the sensitivity of the three indicators for the diagnosis of neonatal sepsis was 77 . 8 %, 58 . 3 % and 13 . 9 %, and the specificity was 91 . 7 ,%, 91 . 7 % and 88 . 9 % respectively. When RIP 3, CRP, and PLT were combined to diagnose neonatal sepsis, the sensitivity, specificity, and ROC area under the curve were 86 . 1 %, 97 . 2 % and 93 . 9 % respectively. Conclusions The expression level of plasma RIP 3 is related to the onset of neonatal sepsis. The combined detection of RIP3 , CRP and PLT has a high diagnostic value for neonatal sepsis.
    The effect of active parenteral nutrition support protocol in premature infants with gestational age< 34 weeks
    SHEN Yujie, ZHANG Xianhong, LI Xiaoran, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  172.  doi:10.3969/j.issn.1000-3606.2021.03.003
    Abstract ( 319 )   PDF (1170KB) ( 162 )  
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    Objective To explore the short-term efficacy and tolerance of active parenteral nutrition support protocol (high initial dose of amino acids and fat emulsion) in preterm infants with gestational age < 34 weeks. Methods A total of 138 preterm infants with gestational age < 34 weeks who were admitted to hospital within 24 hours after birth from May 2019 to December 2019 were randomly divided into two groups according to different amounts of amino acids and fat emulsions applied in the early period. In the active parenteral nutrition group (n= 69 ), the dosage of amino acids started from 2 . 5 g/(kg · d), increased by 1 . 0 g/(kg · d) daily, and maintained after reaching 4 g/(kg · d); the dosage of fat emulsion started from 2 . 0 g/(kg · d), increased by 0 . 5 ~ 1 . 0 g/(kg · d) daily, and maintained after reaching 3 . 5 g/(kg · d). In the routine parenteral nutrition group (n= 69 ), the dosage of amino acids started from 2 g/(kg · d), increased by 0 . 5 g/(kg · d) daily, and the final dosage was no more than 4 g/(kg · d); the dosage of fat emulsion started from 1 g/(kg · d) with final dosage ≤3 g/(kg · d), and this final dosage was maintained. Other routine enteral and parenteral nutrition support programs were implemented at the same time. Results The weight gains of preterm infants in the active parenteral nutrition group were higher than those in the routine parenteral nutrition group in the 1 , 2 and 3 weeks after birth, and the parenteral nutrition time and the days used to achieve total enteral feeding were shorter than those in the routine parenteral nutrition group. All the differences were statistically significant (all P< 0 . 05 ). The rates of lactose intolerance and apnea in the active parenteral nutrition group were lower than those in the routine parenteral nutrition group, with statistical significance (P< 0 . 05 ). Only the blood urea nitrogen level at 24 hours postnatal and glutanine aminotransferase level at 2 weeks postnatal had statistically significant differences between the two groups (P< 0 . 05 ). The above indexes in the active parenteral nutrition group were lower than those in the routine parenteral nutrition group. Conclusion It is safe and effective to give active parenteral nutrition support (high dose of amino acids and fat emulsion) within 24 hours after birth to preterm infants with gestational age < 34 weeks, It can significantly reduce the duration of parenteral nutrition and promote the short-term weight gain without increasing complications.
    Genetic analysis of citrullinemia type Ι in a neonate family
    PENG Wei, YANG Xiao, CHEN Yuhan, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  178.  doi:10.3969/j.issn.1000-3606.2021.03.004
    Abstract ( 542 )   PDF (1272KB) ( 263 )  
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    Objective To explore the genetic variation characteristics of citrullinemia type Ⅰ in a neonate family. Methods The clinical data of citrullinemia type Ⅰ in a neonate were retrospectively analyzed. Genomic DNA was extracted from the peripheral blood of the child and her parents. Gene detection was performed by second-generation sequencing technology. Sanger sequencing, bioinformatics analysis and quantitative PCR were used to further verify the sequencing results. Results One female neonate had poor reaction, irregular shaking of limbs, increased muscle tension and gradually developed respiratory failure after birth. At the same time, the blood ammonia and lactic acid increased and the blood glucose decreased. Blood mass spectrometry showed a significant increase in citrulline, and urine gas chromatography-mass spectrometry showed a significant increase in urinary whey acid. Gene detection revealed that the neonate's ASS1 gene had c.1194 - 2 A>G heterozygous variant which was inherited from the father and heterozygous deletion of exon 3 which c. 1194 - 2 A>G was inherited from the mother. These two variants were not reported in HGMD database. According to ACMG guidelines, they were classified as possible pathogenic variants. Conclusion ASS1 gene c.1194 - 2 A>G heterozygous variant and exon 3 heterozygous deletion are the genetic causes of the neonatal citrullinemia typeⅠ, which enriches the ASS1 gene variant spectrum in Chinese neonates.
    Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by a novel mutation of EARS2 gene: a case report and literature review
    CUI Qingyang , TANG Chenghe , SANG Guimei, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  182.  doi:10.3969/j.issn.1000-3606.2021.03.005
    Abstract ( 414 )   PDF (1946KB) ( 486 )  
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    Objective To explore the clinical phenotype and genotype of leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by a novel mutation of EARS 2 gene. Methods The clinical data of leukoencephalopathy with thalamus and brainstem involvement and high lactate in a neonate were retrospectively analyzed, and the related literature was reviewed. Results A 26 -hour-old female presented with poor response, convulsions and refractory hyperlactemia. Head MRI during pregnancy showed absence of corpus callosum. The heterozygous nonsense mutation of c.1294C>T in exon 7 and heterozygous missense mutation of c.971 G>T in exon 5 of EARS2 gene were detected by whole exon sequencing, which were come from her father and mother respectively. No mitochondrial gene variation was found in the child by the second generation sequencing of mitochondrial gene, but a heterogeneous deletion mutation of mitochondrial gene MTND 1- 1 * was found in the child and her mother by MLPA test. Conclusion New nonsense mutation of c. 1294 C>T and missense mutation of c.971G>T in EARS2 nuclear gene were found in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
    Cleft palate associated with COL2A1 gene mutation: a case report and literature review
    XIN Chun, MEI Hua, ZHANG Yanbo, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  187.  doi:10.3969/j.issn.1000-3606.2021.03.006
    Abstract ( 396 )   PDF (1260KB) ( 218 )  
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    Objective To explore the clinical features and pathogenic genes of cleft palate in children. Methods The clinical data of cleft palate associated with COL2A1 gene variation in a child was retrospectively analyzed, and the related literature of cleft palate with c.2292 delA variation was reviewed. Results The male patient was found to have an upper palate deformity immediately after birth. The main clinical manifestations were slightly protruding eyes, hoarse cry, sputum in the throat, paroxysmal rapid breathing with spitting, small jaw, short tongue, soft palate and uvula cleft, and partly cracked hard palate. Whole exome gene targeted capture high-throughput sequencing showed a c. 2292 delA frameshift deletion mutation in COL2A1 gene. Literature review found that COL2A1 frameshift mutation has been reported in human genetic variation database (HGMD) and ClinVar, but the mutation site of this case has not been reported, Also it has not been included in normal population database gnomAD, thousand person database and ExAC database and it is a rare mutation. Conclusion Cleft palate associated with COL 2 A 1 gene variation (c.2292 delA) is rare, and genetic testing can assist in diagnosis.
    Clinical and genetic analysis of dopa-responsive dystonia caused by compound heterozygous mutation of TH gene in 4 infants
    HU Shuxiang, HUANG Yanru , LI Pei, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  191.  doi:10.3969/j.issn.1000-3606.2021.03.007
    Abstract ( 952 )   PDF (2725KB) ( 268 )  
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    Objective To explore the clinical and genetic characteristics of dopa-responsive dystonia (DRD) in infants. Methods The clinical data of DRD in 4 infants admitted from April 2016 to June 2020 were retrospectively analyzed. Results In the 4 children ( 3 boys and 1 girl) the onset age ranged from 2 months to 7 months. The clinical manifestations were developmental retardation or regression, muscle weakness and dystonia. There were no abnormalities in blood biochemistry, blood ammonia and blood lactic acid tests. Electroencephalogram and cranial magnetic resonance imaging (MRI) showed no obvious abnormality. There was no abnormality in routine chromosomal examination, while the compound heterozygous pathogenic variation of TH gene was found. In case 1 , c. 457 C>T was inherited from the father and c.1196C>T was inherited from the mother. In case 2, c.698G>A was inherited from the father and c.1293+5G>C was inherited from the mother. In case 3 , c. 880 G>C was inherited from father and c. 690 C>A was inherited from the mother. In case 4 , c. 739 G>A was inherited from the father and c. 1293 + 5 G>C was inherited from the mother. All of them were reported to be pathogenic variants. Cases 1 , 2 , and 3 were treated with low dose of dopasrazide after diagnosis, and the dose was gradually increased to obtain the best effect. The children were followed up for 1 . 5 ~ 3 years, and the current maximum dose of the drug was 20 ~ 25 mg/(kg · d). All the children recovered basically. At present, the dosage of dosilazine in case 4 was 12 mg/(kg · d), and dystonia was still present when agitated, and the dosage was continued to be increased slowly. Conclusion The symptoms of DRD are not special in infants. Genetic tests should be performed as soon as possible, and the treatment effect of doserazine is good.
    KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 cases
    LIU Kang, SUN Suzhen, PANG Lingyu, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  196.  doi:10.3969/j.issn.1000-3606.2021.03.008
    Abstract ( 983 )   PDF (1658KB) ( 315 )  
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    Objective To explore the clinical and gene mutation characteristics of KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure. Methods The clinical data of KCNT 1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 children were retrospectively analyzed, and the related literature was reviewed. Results In 2 girls the age at onset was 3 months and at 6 months respectively. In 1 boy the age at onset was 2 months. All the 3 cases were onset with convulsions and diagnosed as new missense mutations of KCNT 1 gene by genetic test, which were respectively c. 862 G>A(p.Gly 288 Ser), c. 2813 A>G (p.Tyr 938 Cys), and c. 1283 G>A(p.Arg 428 Gln). The head magnetic resonance imaging of 2 cases was normal, while 1 case showed delayed myelination and thin knee of corpus callosum. VideoEEG showed focal status epilepticus in 2 cases, of which 1 case had hypsarrhythmia. All the 3 cases were treated with various antiepileptic drugs, but seizures failed to be effectively controlled, and cases appeared motor retardation and even regression. Conclusion KCNT 1 may be the main pathogenic gene of EIMFS,and leads to early onset of epilepsy often accompanied by developmental retardation, poor response to multi-antiepileptic drugs and poor prognosis.
    MEHMO syndrome caused by EIF2S3 gene mutation: a report of two cases and literature review
    LIU Xiaoming, WANG Haixia, CHEN Jiao, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  201.  doi:10.3969/j.issn.1000-3606.2021.03.009
    Abstract ( 666 )   PDF (2252KB) ( 244 )  
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    Objective To explore the clinical and genetic characteristics of MEHMO syndrome. Methods The clinical data of MEHMO syndrome in 2 children were analyzed retrospectively, and the related literatures were reviewed. Results Both cases were male. Case 1 was admitted at 2 years and 3 months of age. He presented with epileptic seizure, mental retardation, progressive spastic tetraplegia, microcephaly, facial deformity, short stature, and cryptorchidism. Case 2 visited at the age of 3 months and died at the age of 4 months and 15 days. The child presented with recurrent hypoglycemia, microcephaly, small penis, persistent and refractory epilepsy. Both cases had lactic acidosis, and MRI showed thin corpus callosum. There was a missense mutation of c.137 C>T (p.Thr46 Ile) in EIF 2 S 3 gene in case 1 , and a frameshift mutation of c.1391 _c.1394 delCAAT (p.T464 Tfs* 5 ) in EIF 2 S 3 gene in case 2 . These two mutations have not been included in the human genetic variation database (HGMD), and both were classified as pathogenic by American College of Medical Genetics and Genomics (ACMG) classification. Five foreign literatures were retrieved, including 18 patients. There were five EIF 2 S 3 gene mutation sites, one frameshift mutation and four missense mutations, all of which were hemizygous mutations. Patients with frameshift mutation showed all important phenotypes of MEHMO syndrome, such as mental retardation, epilepsy, genital dysplasia, microcephaly, obesity, stunting and hypoglycemia, while patients with missense mutation showed parts of phenotypes and mild symptoms. Conclusion There is a certain genotype-phenotype correlation in MEHMO syndrome. Two cases of MEHMO syndrome in Chinese population were reported for the first time, and two new mutation sites of EIF 2 S 3 gene were found.
    Pelizaeus-Merzbacher-like disease caused by a novel inherited mutation in the 5 ’UTR region of GJC 2 gene in two siblings
    TIAN Yang, HOU Chi, LI Jinliang, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  206.  doi:10.3969/j.issn.1000-3606.2021.03.010
    Abstract ( 532 )   PDF (1534KB) ( 251 )  
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    Objective To explore the pathogenic variation of hereditary leukoencephalopathy in two siblings of a family. Methods The clinical data of children and their families were collected. The peripheral blood DNA of the two siblings and their parents were extracted and genetic analysis and Sanger sequencing were performed by medical exon, whole exon and whole genome sequencing. Results The clinical manifestations of two siblings were consistent with Pelizaeus-Merzbacher-like disease. No pathogenic mutation was found in both medical exon sequencing and whole exon sequencing. However, whole-genome sequencing revealed that the two siblings had the same homozygous variant of c.- 167 A>T ( 5’UTR) exon 1 / 2 in the GJC 2 gene (NM- 020435 . 3 ), which was inherited in an autosomal recessive manner from their parents. Conclusion The c.-167A>T of GJC2 gene is a pathogenic variant of Pelizaeus-Merzbacher-like disease in two siblings of the family. Whole-genome sequencing can reveal an abnormality at this locus in the 5’UTR region.
    Autoimmune glial fibrillary acidic protein astrocytopathy in children: a case report and literature review
    HUANG Haixia, FU Yueqiang, BAI Ke, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  209.  doi:10.3969/j.issn.1000-3606.2021.03.011
    Abstract ( 393 )   PDF (1558KB) ( 137 )  
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    Objective To explore the diagnosis and treatment of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) in children. Methods The clinical data of an autoimmune GFAP-A in a child were retrospectively analyzed, and the related literature was reviewed. Results In a girl, aged 10 years and 2 months, it had an onset with fever. The child developed dyspnea and urine retention early in the course of the disease, followed by progressive disturbance of consciousness and convulsions. Her glial fibrillary acidic protein (GFAP) antibody in cerebrospinal fluid and serum were positive. Brain magnetic resonance imaging (MRI) showed bilateral thalamus and basal ganglia lesions. Plain and enhanced MRI scan of the spinal cord showed linear enhancement in the thoracic part of the spinal membrane and nerve roots. The child was finally diagnosed with GFAP-A, and his condition improved after treatment with gamma globulin and hormones. Conclusion GFAP-A begins with meningoencephalitis with or without myelitis. MRI showed meningeal enhancement, multiple hyperintensity lesions, and vascular-like radiologic enhancement. Antibody detection is helpful for diagnosis.
    Clinical and genetic analysis of multiple congenital anomalies-hypotonia-seizures syndrome 1: a case report
    MA Xiuwei, GU Ruijie, HOU Yu, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  213.  doi:10.3969/j.issn.1000-3606.2021.03.012
    Abstract ( 565 )   PDF (2309KB) ( 243 )  
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    Objective To explore the clinical and genetic characteristics of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Methods The clinical data of a child diagnosed with MCAHS1 in April 2018 were reviewed. Gene detection was performed by whole exome sequencing and Sanger verification. Flow cytometry was used to analyze the expression of glycosylphosphatidylinositol (GPI) anchoring proteins FLAER, CD16, CD24, CD58, and CD59 on the surface of peripheral blood granulocytes. Results A 4-monthold boy was admitted to hospital due to paroxysmal upturning of eyes and underdevelopment. He had special facial features and hypotonia. Two heterozygous mutations (c.343G>C and c.1694G>T) were found in the PIGN gene of the child by whole exon sequencing, which came from the mother and father with normal clinical phenotype respectively and were compound heterozygous variants. This variant has not been reported and is classified as suspected pathogenic by the American College of Medical Genetics and Genomics (ACMG) guidelines. The compound heterozygous mutation resulted in the decrease of GPI anchored protein expression on the surface of granulocytes. The followup found that brile convulsions occurred at 10 months of age, epilepsy occurred at 15 months of age and seizures were controlled after oral administration of sodium valproate. After rehabilitation treatment, the child still developed slowly. A total of 18 MCAHS1 patients have been reported by literature search. Missense mutation is the most common gene mutation, and most of them have poor prognosis. Conclusion The MCAHS1 gene variant spectrum was expanded due to the gene sequencing of this MCAHS1 child.
    Early-onset epileptic encephalopathy caused by KCNT1 gene mutation: a case report and literature review
    LIU Zhenmin, JIANG Li
    Journal of Clinical Pediatrics. 2021, 39(3):  218.  doi:10.3969/j.issn.1000-3606.2021.03.013
    Abstract ( 1374 )   PDF (1555KB) ( 195 )  
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    Objective To explore the clinical characteristics, diagnosis and treatment of early-onset epileptic encephalopathy caused by KCNT1 gene mutation. Methods The clinical data of an early-onset epileptic encephalopathy associated with KCNT 1 gene mutation in a child were retrospectively analyzed, and the related literature was reviewed. Results The female patient aged 2 years and 7 months had frequent seizures since the neonatal stage and the main manifestation was focal clonic seizures accompanied by developmental retardation. The electroencephalogram showed epileptic discharge. There were no obvious abnormalities in cranial imaging and genetic metabolism screening. Genetic testing showed a mutation of c.1041G>C (p.Glu 347 Asp) (NM_ 020822 . 2 ) in KCNT 1 gene. The seizures were relieved after treatment with oral quinidine. Conclusion KCNT1 gene mutation-related early-onset epileptic encephalopathy can be onset in the neonatal period with abnormal psychomotor development. Quinidine may be effective for the treatment.
    Clinical characteristics and genetic analysis of congenital central hypopnea syndrome with pulmonary hypertension as the first manifestation
    HU Yan, WANG Chun, GUO Yuxiong, et al
    Journal of Clinical Pediatrics. 2021, 39(3):  222.  doi:10.3969/j.issn.1000-3606.2021.03.014
    Abstract ( 376 )   PDF (2154KB) ( 223 )  
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    Objective To analyze the clinical, laboratory examination and pathogenic genes of a case of congenital central hypopnea syndrome (CCHS). Methods The clinical manifestations, laboratory examination, echocardiography, treatment and follow-up of a child with CCHS with unexplained pulmonary hypertension were collected.The genes of the child and his parents were detected by targeted capture second generation sequencing technique. The reported pathogenic genes of CCHS were verified by Sanger method, and the clinical characteristics, pathogenic mechanism and gene mutation of CCHS were summarized and discussed in combination with domestic and foreign literature. Results The main manifestations of 11 -monthold girls were edema, oliguria, hypotension, lethargy, cyanosis,convulsions; increased intracranial pressure, MRI suggested right frontal lobe hemorrhage; brain natriuretic peptide (BNP), glutamic pyruvic transaminase increased and prothrombin time prolonged;echocardiography showed moderate and severe pulmonary hypertension. No possible pathogenic genes were found in the second generation of targeted capture sequencing.After non-invasive ventilation,the breathing of the children was slow and weak during sleep, accompanied by a decrease in blood oxygen, and blood gas analysis showed carbon dioxide retention. The polyalanine repeat expansion mutation in exon 3 of PHOX 2 B was confirmed by Sanger method. Then the patients were treated with nocturnal non-invasive ventilation and antihypertensive drugs. The pulmonary artery pressure decreased significantly and the vital signs were stable.During the follow-up to 24 months old, only non-invasive ventilation with low pressure level was needed at night, and the growth and development was normal. Conclusion For children with unexplained pulmonary hypertension with difficulty in weaning, patients with suspected CCHS, should carry out the second generation of targeted capture sequencing of CCHS-related genes and Sanger verification of PHOX 2 B gene as soon as possible, which can avoid missed diagnosis of CCHS; and early non-invasive ventilation can improve the prognosis.
    Clinical and genetic analysis of Adams-Oliver syndrome type 2 primarily with nervous system involvement
    XU Min, HE Yan, GUO Hu
    Journal of Clinical Pediatrics. 2021, 39(3):  227.  doi:10.3969/j.issn.1000-3606.2021.03.015
    Abstract ( 910 )   PDF (2163KB) ( 253 )  
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    Objective To explore the clinical features and genotypes of Adams-Oliver syndrome type 2 (AOS 2 ) caused by mutation of DOCK 6 gene. Methods The clinical data of AOS 2 in a child were retrospective analyzed, and related literature was reviewed. Results The female child had developmental retardation since childhood. At 6 months of age, the child had convulsions, small head circumference and local telangiectasia in the bilateral thigh skin. Brain MRI showed multiple calcifications in both ventricular walls and subependymal layer, accompanied by paraventricular demyelination, brain dysplasia, mild atrophy of bilateral hippocampus, and abnormal signal in right temporal and occipital lobe. Genetic testing revealed the compound heterozygous mutations of c. 3069 _ 3069 del and c. 5220 + 1 G>A in the DOCK 6 gene of the child, which were respectively from the parents with normal phenotype. Both mutations had not been reported before and were pathogenic variants. Conclusion The newly discovered AOS 2 pathogenic gene expands the DOCK 6 gene variation spectrum.
    Research progress of SCN1A gene-related epilepsy
    FANG Zhixu
    Journal of Clinical Pediatrics. 2021, 39(3):  231.  doi:10.3969/j.issn.1000-3606.2021.03.016
    Abstract ( 465 )   PDF (1148KB) ( 419 )  
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    The SCN 1 A gene encodes voltage-gated sodium channel α 1 subunit, and its pathogenic variation can cause seizures by affecting the function of sodium channel. Patients with epilepsy associated with pathogenic SCN1 A gene mutation have high clinical heterogeneity, which show a series of epilepsy phenotype spectrum from benign phenotype to severe phenotype. The location and type of gene variation, mosaic variation and the role of modifier genes are all factors that affect the epilepsy phenotype. Early identification of the clinical characteristics of SCN1A gene-related epilepsy and timely detection of SCN 1 A gene are helpful to achieve accurate diagnosis and treatment and prognosis evaluation of epilepsy. This article reviews the pathogenesis, clinical manifestations, correlation between genotype and clinical phenotype and treatment of SCN 1A generelated epilepsy, so as to improve the understanding of SCN 1 A gene-related epilepsy.
    Research progress on early recognition, diagnosis and treatment of Kawasaki disease shock syndrome
    GAO Weiwei, ZOU Yingxue
    Journal of Clinical Pediatrics. 2021, 39(3):  237.  doi:10.3969/j.issn.1000-3606.2021.03.017
    Abstract ( 540 )   PDF (1120KB) ( 304 )  
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    Kawasaki disease (KD) is a common acute vasculitis in children, while Kawasaki disease shock syndrome (KDSS) is a rare and serious manifestation of KD. In recent years, KDSS has gradually attracted the attention of clinicians, because it can appear in the early stage of the disease, with rapid progression and multi-system organ involvement. Early diagnosis of KDSS is difficult and is very easy to miss diagnosis and misdiagnose. This article reviews the research progress of KDSS in the diagnosis, early recognition, pathogenesis, treatment and prognosis in recent years.
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