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Table of Content

    15 March 2020 Volume 38 Issue 3
      
    Electroencephalogram characteristic and brain function prognosis in children with status epilepticus
    JIN Mei, SUN Suzhen, CHEN Ling, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  161.  doi:10.3969/j.issn.1000-3606.2020.03.001
    Abstract ( 529 )   PDF (1983KB) ( 165 )  
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     Objective To explore the characteristics of electroencephalogram (EEG), the prognosis of brain function and the correlation between them. Methods The clinical data of status epilepticus (SE) in 33 children treated in pediatric intensive care unit (PICU) from August 2017 to July 2018 were analyzed retrospectively. The children with SE were divided into generalized convulsive status epilepticus (GCSE) and non-convulsive status epilepticus (NCSE). The prognosis of brain function was evaluated by amplitude integrated electroencephalogram (aEEG) and pediatric cerebral and overall performance category scale (PCOPCS), and the correlation between them was analyzed. Results In the 33 SE children (17 boys, 16 girls) aged from 1 month to 12 years, there were 21 cases of GCSE and 12 cases of NCSE. There were no statistically significant differences in gender, age, abnormal rate of imaging examination and incidence of complications between the two groups (P>0.05). The midazolam use and ICU stay in NCSE group were longer than those in the GCSE group (P<0.05). The GCSE group had a good prognosis of brain function in 11 cases, a poor prognosis in 5 cases, and a severe poor prognosis in 5 cases (5 deaths). In the NCSE group, there were 5 patients with poor prognosis and 7 patients with severe prognosis (5 deaths). According to the original EEG in aEEG, 10 children were classified as grade 1, 1 child as grade 2, 1 child as grade 3, and 1 child as grade 4, 15 children as grade 5, and 5 children as grade 6. There was a significant positive correlation between EEG grade and short-term prognosis of brain function (r=0.78, P<0.001), that is, the higher EEG grade had the worse prognosis of brain function. Conclusion The prognosis of GCSE and NCSE in children is different. The long-term EEG monitoring is of great significance to the prognosis of SE.
    The clinical, imaging, and electroencephalogram analysis of anti-NMDA receptor encephalitis in 69 children
    LIAO Hongmei, JIANG Zhi, YANG Sai, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  166.  doi:10.3969/j.issn.1000-3606.2020.03.002
    Abstract ( 326 )   PDF (1110KB) ( 188 )  
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     Objective To explore the clinical manifestations, imaging, and electroencephalogram (EEG) characteristics of anti-NMDA receptor encephalitis in children. Method The clinical data of 69 children who were hospitalized from June 2015 to March 2019 and diagnosed with anti-NMDA receptor encephalitis were retrospectively analyzed. Results In 69 children (39 boys and 30 girls) aged 6 months to 13.5 years, convulsions and epileptic seizures were the most common symptoms (50 cases, 72.5%). The anti-NMDA receptor antibodies in cerebrospinal fluid were all positive, and 3 cases were positive for overlapping MOG antibodies at the same time. Among 66 children who had head MRI, the most frequently damaged area was the temporal lobe (37 cases). Among the 67 children who had EEG, 54 were abnormal. The most common change was extensive slow wave (20 cases, 29.9%), and the rhythm of occipital region was relatively preserved. The discharge was mainly localized, and the discharge in frontal, temporal and occipital areas was common, which was consistent with clinical attack. Conclusions The initial symptom of anti-NMDA receptor encephalitis in children is mainly convulsive epilepsy. About 50% of them have abnormal MRI and EEG abnormalities are more common.
    Clinical characteristics and gene mutation analysis of limbgirdle muscular dystrophy in four families
    DENG Shengyong, TIAN Xiaohui, YAO Jing, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  170.  doi:10.3969/j.issn.1000-3606.2020.03.003
    Abstract ( 789 )   PDF (2445KB) ( 586 )  
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     Objective To explore the clinical and genetic variation of limb-girdle muscular dystrophy (LGMD). Method The clinical manifestations, results of laboratory, electrophysiological and genetic examinations of 5 LGMD patients from 4 families were collected. The clinical characteristics and gene mutation sites of LGMD were discussed in combination with literature. Results The 5 patients (3 boys and 2 girls) aged from 3 years and 3 months to 19 years were from 4 families. One patient only had a significant increase in serum creatine kinase for unknown reasons, and the other four patients had varying degrees of muscle weakness. The gene tests found pathogenic mutations in all patients, including CAPN3 complex heterozygous mutation (c.632+4A>G, c.725dupG) in 1 case and SGCB homozygous mutation (c.1A>G) in 1 case and SGCG homozygous mutation (c.768delC and c.320C>T)in 3 cases. Among them, c.320C>T mutation was a new mutation site not reported before. According to the clinical manifestations and genetic testing results, 3 cases of LGMD 2C and 1 case of LGMD 2A and1 case of LGMD 2E were confirmed. All of these cases were autosomal recessive inheritance. Conclusion Gene detection is helpful for the diagnosis and genetic consultation of LGMD.
    Hematopoietic stem cell transplantation in the treatment of severe β-thalassemia with limb-girdle muscular dystrophy: a case report and literature review
    LI Yue, WANG Xiaodong, ZHANG Xiaoling, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  175.  doi:10.3969/j.issn.1000-3606.2020.03.004
    Abstract ( 376 )   PDF (1260KB) ( 279 )  
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    Objective To explore therapeutic effect of hematopoietic stem cell transplantation for severe β-thalassemia with limb-girdle muscular dystrophy (LGMD). Methods The therapeutic process of a case of severe β-thalassemia (CD17 homozygous mutation) with LGMD2E treated by HLA-matched hematopoietic stem cell transplantation was analyzed retrospectively. Results The child was a girl aged 3 years and 5 months. The donor was her sister. The conditioning regimen consisted of fludarabine, busulfan, cyclophosphamide, and anti-human thymocyte immunoglobulin. The graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine, mycophenolate mofetil and short-term methotrexate. The stem cells (406 mL donor bone marrow) were intravenously infused into the patient, and the number of mononuclear cells was 11.3×108/kg. Blood routine, engraftment evidence, and kinase level were detected after transplantation. After hematopoietic stem cell transplantation, the child had reconstructed hematopoietic and immune function, and the data suggested complete donor chimerism, with a chimerism rate of 100%. However, there was no significant decrease in serum enzyme, and serum creatine kinase maintained at 20 000~25 000 IU/L. The strength of the limbs was gradually decreasing. Recently, the muscle strength of both lower limbs was grade 3~4, and that of both upper limbs was grade 4, making the child prone to falling. Conclusion Allogeneic hematopoietic stem cell transplantation can cure thalassemia in children, but it does not improve the symptoms of muscular dystrophy.
    Clinical and gene variation analysis of early epileptic encephalopathy caused by KCNA2 gene: a case report
    WANG Weiwei, CUI Qingyang, HE Xiaojing
    Journal of Clinical Pediatrics. 2020, 38(3):  179.  doi:10.3969/j.issn.1000-3606.2020.03.005
    Abstract ( 688 )   PDF (1449KB) ( 690 )  
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    Objective To investigate the genetic variation of early epileptic encephalopathy. Method The clinical data and gene detection results of early epileptic encephalopathy in a child were analyzed retrospectively. Results A girl suffered from intermittent and frequent convulsions 30 minutes after birth. Many kinds of antiepileptic drugs, such as phenobarbital, chloral hydrate, diazepam, valproate, levetiracetam, clonazepam, oxcarbazepine were ineffective. Second-generation sequencing revealed a heterozygous mutation of c.1120A>G in KCNA2 gene in the child, which was not carried by either parent and was a new mutation. Conclusion The pathogenicity of the mutation has been reported in literature, but it is the first report in China. The gene mutation spectrum of early epileptic encephalopathy in China has been expanded.
    Changes and significance of red blood cell distribution width of Kawasaki disease in children
    ZHU Zaifu, FAN Xiaochen
    Journal of Clinical Pediatrics. 2020, 38(3):  182.  doi:10.3969/j.issn.1000-3606.2020.03.006
    Abstract ( 542 )   PDF (1184KB) ( 307 )  
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    Objective To explore the change and clinical significance of red blood cell distribution width (RDW) in children with Kawasaki disease (KD). Methods A total of 185 hospitalized children newly diagnosed with KD from January 2014 to May 2019 were selected. According to the results of echocardiography before treatment, patients were divided into coronary artery lesion group (CAL group, 24 cases) and non-coronary artery lesions group (nCAL group, 161 cases). And another 50 healthy children in the same period were selected as the control group. The differences of RDW, white blood cell count (WBC), platelet count (PLT), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), alanine aminotransferase (ALT), and albumin (ALB) levels among groups were compared. The independent risk factors of KD combined with CAL were screened by multiple logistic regression analysis. The efficacy of RDW in predicting KD combined with CAL in acute phase was analyzed by receiver operating characteristic (ROC) curve. Results The levels of RDW, WBC, PLT, ESR, CRP, and ALT in KD group were higher than those in the control group, and the levels of ALB in KD group were lower than those in the control group (all P<0.05). The differences of RDW, WBC, CRP, ALB, and fever duration between CAL group and nCAL group were statistically significant (all P<0.05). Multiple logistic regression analysis showed that RDW, WBC, CRP, ALB, and fever duration were all influencing factors of CAL occurrence, and RDW was positively correlated with WBC and CRP levels and negatively correlated with ALB levels. The sensitivity and specificity of RDW≥13.35% were 87.5% and 68.3% in predicting KD with CAL respectively, and the area under the ROC curve (AUC) was 0.827 (95% CI: 0.749~0.905, P<0.001). Conclusions The changes of RDW level can be used as one of the important indexes for early prediction of CAL in KD children.
    Treatment and prognosis analysis of childhood medulloblastoma under 3 years old
    WU Wanshui, LIU Jingjing, SUN Yanling, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  186.  doi:10.3969/j.issn.1000-3606.2020.03.007
    Abstract ( 309 )   PDF (1247KB) ( 136 )  
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    Objective To assess the effect and toxicity of HIT2000 treatment and prognosis factors in children medulloblastoma (MB) under 3 years old. Methods The MB patients younger than 3 years were selected and they were received HIT2000 protocol. The effect and relapse/metastasis rate, toxicity reaction during radiotherapy and chemotherapy were summarized. Prognosis factors included pathological types, molecular types, radiotherapy, tumor resection and M stage were analyzed by Kaplan-Meier and tested by Log-Rank. Results A total of 38 patients were admitted, in which 8(21%) were completely relieved, 5(13%)were partial relieved, 6(16%) were disease stable,19(50%) were prognosis/relapse. 13(34%) patients died and 25(66%) alive. 3 or 5 years EFS rate and OS rate were 43.9±8.8% and 49.5±9.1%, respectively. The 3 or 5 years EFS rate and OS rate showed significant difference among various pathological types, molecular types and M stage (P<0.05). However, no difference was observed among groups with tumor resection, with or without radiotherapy (P>0.05). Thirteen(34%)patients received radiotherapy, none of them found with radiation encephalic necrosis and secondary tumor. One (8%) experienced radiation lung injury. All patients received chemotherapy had different grades of bone marrow suppression, and 3(7%)patients with liver dysfunction, 5(13%) with oral mucosal ulcer. Finally all damages were cured after treatment. No treatment-related deaths occurred. Conclusion HIT2000 protocols are suitable for childhood MB younger than 3 years old, and disease prognosis are related to M stage, pathological types and molecule types, side-effect of chemotherapy and radiotherapy are endurable. This protocol can be an optional program for MB in children under 3 years old.
    Clinical characteristics and AGXT gene mutation analysis of primary hyperoxaluria type Ⅰ in children
    ZHANG Jiayi, CAI Xiaoyi, CHEN Ye, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  191.  doi:10.3969/j.issn.1000-3606.2020.03.008
    Abstract ( 556 )   PDF (2191KB) ( 202 )  
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    Objective To explore the clinical and genetic variation characteristics of primary hyperaciduria typeⅠ(PH1) in children. Method The clinical data of PH1 in 5 children were retrospectively analyzed. Results In 5 children (3 boys; 2 girls), the age at onset ranged from 2 months to 4 years. All of the patients had refractory metabolic acidosis, hyperkalemia, hypocalcemia and other non-specific clinical manifestations, and the older children could have the specific manifestations of multiple kidney stones. Genetic tests showed that all 5 children had mutations at different sites of AGXT gene and a total of 6 mutation sites were found, in which exon 6 c.679_680del deletion mutation was in 3 children and exon 2 c.190A>T mutation was first reported. Conclusion The clinical manifestations of PH1 are diverse, and genetic testing is helpful for early diagnosis and intervention and also delay of the progress of terminal kidney.
    Congenital hyperinsulinemia in neonates: report of 3 cases and review of literature
    JIANG Wen, HE Yanjuan, ZHAO Mingyi, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  196.  doi:10.3969/j.issn.1000-3606.2020.03.009
    Abstract ( 278 )   PDF (1304KB) ( 227 )  
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    Objective To explore the pathogenesis, clinical features, gene diagnosis and treatment of neonatal congenital hyperinsulinemia (CHI). Methods The clinical data of CHI in 3 neonates were analyzed retrospectively, and the related literature was reviewed. Results Three male neonates had recurrent hypoglycemia within 15 minutes to 1 hour after birth. Whole exon gene testing was performed in 2 neonates, and the heterozygous mutation of ABCC8 gene was found, while KCNJ11 gene was tested in 1 neonate and no mutation was found. In all 3 patients diazoxide treatment were effective. The blood glucose was normal at the telephone follow-up one month after discharge. According to the literature, 11 genes including ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, SLC16A1, HNF4A, HNF1A, HK1, and PGM1 were related to CHI. The clinical manifestations, drug response and prognosis of different genotypes were significantly different. Conclusion CHI is a single gene genetic disease, and gene detection is helpful for the diagnosis and treatment.
    Gastric antrum polyp formation induced by cow's milk protein allergy in infants: report of two cases
    CHEN Huan, YANG Min
    Journal of Clinical Pediatrics. 2020, 38(3):  201.  doi:10.3969/j.issn.1000-3606.2020.03.010
    Abstract ( 479 )   PDF (1206KB) ( 389 )  
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     Objective To explore the relationship between cow's milk protein allergy and gastric antrum polyps in infants. Method The clinical data of gastrointestinal obstruction due to gastric antral hyperplastic polyps confirmed by electronic gastroscopy and histopathology in 2 children were retrospectively analyzed. Results One boy and one girl, aged 7 months and 11 months respectively, were presented with repeated vomiting and malnutrition. Both of them were suspected of congenital hypertrophic pyloric stenosis by abdominal ultrasonography and the girl was treated with pyloric ring myotomy. The painless gastroscopy showed that polypoid hyperplasia near the gastric antrum resulted in complete obstruction of the gastric output tract in two children, and jejunal tube was placed during the operation. The cow’s milk specific IgE was 0.43 IU/mL and 1.35 IU/mL respectively in two children, and the milk protein allergy was confirmed by stimulation test. Two children were fed the amino acid formula through the jejunal tube continuously, and were treated with oral hormone therapy at the same time. Two months later, the gastroscopy was reexamined, and the gastric antrum polyps were significantly shrunk, and they could eat by themselves. Conclusion Gastric antrum polyps are rare in infants and may be associated with milk protein allergy in 2 cases.
    Takayasu’s arteritis in children: a case report
    ZHANG Yuesheng, LI Junfeng, YAN Suqi, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  205.  doi:10.3969/j.issn.1000-3606.2020.03.011
    Abstract ( 327 )   PDF (1309KB) ( 250 )  
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    Objective To explore the clinical characteristics of Takayasu’s arteritis in children. Method The clinical data of Takayasu’s arteritis in a child were analyzed, and the relevant literatures were reviewed. Results The 7-year-old girl had recurrent fever of unknown causes, and the inflammatory indicators were significantly increased, and the anti-infection treatment was ineffective. PET-CT was performed and vasculitis was considered. After receiving glucocorticoid therapy, the patient's condition was recurrent, and angiography was performed to confirm the diagnosis of arteritis. Subsequently, the patient had surgical operation, and treated with glucocorticoids and cyclophosphamide, and no recurrence occurred. Conclusions For those with unexplained fever, accompanied by elevated inflammatory indicators and ineffective anti-infective treatment, clinician should be alert to the possibility of Takayasu’s arteritis. Early PET-CT examination and treatment by combination of glucocorticoid and cyclophosphamide after diagnosis can effectively improve the prognosis.
    Propafenone combined with propranolol in the treatment of catecholaminergic polymorphic ventricular tachycardia: a case report and literature review
    ZHANG Li, LI Yun, WANG Jianyi, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  209.  doi:10.3969/j.issn.1000-3606.2020.03.012
    Abstract ( 359 )   PDF (1459KB) ( 286 )  
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     Objective To investigate the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia (CPVT). Method The clinical data of CPVT in a child was analyzed and the related literature was reviewed. Results A boy, aged 5 years and 2 months, had intermittent precardiac discomfort for more than 8 months and two syncope attacks triggered by exercises. The 24-hour ECG and treadmill test showed that ventricular arrhythmia occurred when sinus heart rate was > 110 bpm. When the heart rate was increased, the frequency of ventricular arrhythmia was increased, and the bidirectional and polymorphic ventricular tachycardia could be seen. Gene detection showed RYR2 gene mutation c.6886G> A (p.E2296K). After the treatment with high dose of propranolol, the symptoms were not relieved and the ECG examination did not improve significantly, but the symptoms were improved with the addition of polymorphic. After one-year follow-up, the child had no chest discomfort after exercise and no ventricular arrhythmia was found in the 24-hour ECG and treadmill test. Conclusions The main clinical features of CPVT are bidirectional and/or pleomorphic ventricular tachycardia induced by exercise or emotional excitation. Syncope and sudden death are the main clinical manifestations. Propafenone may be a promising alternative or combinated for the treatment of CPVT.
    Adolescent X-linked inhibitor of apoptosis deficiency: a case report and literature review
    LIU Ting, XIE Yongwu, ZENG Ping, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  213.  doi:10.3969/j.issn.1000-3606.2020.03.013
    Abstract ( 263 )   PDF (1303KB) ( 226 )  
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    Objective To analyze the diagnosis and treatment of X-linked inhibitor of apoptosis (XIAP) deficiency. Methods The clinical data of XIAP deficiency in a child were retrospectively analyzed and related literature was reviewed. Results A boy had the onset of the disease at the age of 5 years and 5 months. His main manifestations were recurrent fever, rash with lymphadenomegaly and hepatosplenomegaly, and inflammatory bowel disease. The child was diagnosed with XIAP deficiency by genetic testing at age 13 years. Frameshift mutation of 888_892del was found in exon 3 of XIAP gene, leading to the amino acid change of p.k299lfs*8. No similar gene locus reports were found by searching the literature. Conclusions XIAP deficiency is an immunosuppressive primary immunodeficiency disease with no clinical specificity. Timely genetic examination is of clinical significance.
    Gene detection and clinical analysis of Cornelia de Lange syndrome in a case
    HU Yuhui, CHEN Shuli, LIU Lin, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  217.  doi:10.3969/j.issn.1000-3606.2020.03.014
    Abstract ( 869 )   PDF (1514KB) ( 489 )  
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    Objective To explore the gene variation and clinical manifestation of Cornelia de Lange syndrome. Method The clinical information and data of whole-genome second-generation sequencing of a suspected Cornelia de Lange syndrome in a child were collected. Results The 6-month-old boy had growth retardation and distinctive facial features (hairy forehead, synophrys, thick arched eyebrows, long and curved eyelashes, drooping double eyelids, low bridge of the nose, long philtrum, thin lips, and downslanting corners of the mouth). Heterozygous mutation of c.1679dela (p.k566sfs * 48) was detected in exon 9 of NIPBL gene in the child, which was a new mutation and had not been reported in literature. There was no abnormality in this gene locus in both of his parents. According to the guidelines of the American College of Medical Genetics and Genomics, the mutation site is pathogenic variation. Conclusion A new truncated protein mutation was detected in NIPBL gene in a Cornelia de Lange syndrome patient, which had not been reported in the literature. It enriched the human gene mutation database.
    Genetic characteristics and clinical phenotype of a child with short stature and multiple malformations due to loss of heterozygosity in chromosome fragment 3p25.3p25.2
    ZHAO Xiaofeng, MAO Guoshun, LI Li, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  221.  doi:10.3969/j.issn.1000-3606.2020.03.015
    Abstract ( 300 )   PDF (1606KB) ( 324 )  
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    Objective To investigate the clinical phenotype and genetic characteristics of loss of heterozygosity (LOH) in chromosome fragment 3p25.3p25.2. Method The clinical data, clinical phenotype and molecular genetic characteristics of LOH in chromosome fragment 3p25.3p25.2 in a child were analyzed retrospectively. Results A boy, aged 1 year and 4 months old, suffered from intrauterine growth retardation, severe short stature, overall growth retardation, language retardation and special face with multiple malformations (microcephaly, head appearance deformity, small mandible, long philtrum, low ear position, bilateral preauricular fistulas, etc.). He also had congenital duodenal atresia, intestinal malrotation, congenital heart disease, cryptorchidism, glans exposure, hypotonia, feeding difficulties in infancy, sleep disorders and hypothyroidism. Chromosome karyotype of the child showed 46, XY. Chromosomal microarray analysis results demonstrated a 3327 kb heterozygous deletion in 3p25.3p25.2, a total of 39 gene deletions. Conclusion The loss of heterozygosity of 3327 kb in 3p25.3p25.2 region resulted in the deletion of SETD5, VHL, and FANCD2 genes, which led to the clinical phenotype of this child.
    Genetic variation detection and prenatal diagnosis in a family of glutaric aciduria type Ⅰ pedigree
    LU Lu, MA Dingyuan, CHENG Jian
    Journal of Clinical Pediatrics. 2020, 38(3):  225.  doi:10.3969/j.issn.1000-3606.2020.03.016
    Abstract ( 450 )   PDF (1558KB) ( 399 )  
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    Objective To identify pathogenic gene mutations of glutaric aciduria typeⅠand provide genetic counseling and prenatal diagnosis for a Chinese family. Methods Mutation of glutaryl-CoA dehydrogenase (GCDH) gene was detected in the proband with glutaric aciduria typeⅠby Ion Torrent semi-conductor sequencing for the screening of the pathogenic mutations. Both parents were verified by Sanger sequencing. Amniotic fluid fetal cells were extracted by amniocentesis at 18 weeks of gestation to detect GCDH gene. Results The 4-year-old boy had pathogenic variations in the GCDH gene (NM_000159), including heterozygous mutations from the father c.395G>A (p.R132Q) and from the mother c.769C>T (p.R257W). The gene detection of amniotic fluid samples of the mother showed no mutation in c.395 and c.769 of GCDH gene, and there was no abnormality in the results of blood tandem mass spectrometry and growth in the neonate. Conclusions The pathogenic mutation site of GCDH gene in a family of glutaric aciduria typeⅠwas successfully identified and prenatal molecular genetic diagnosis was provided to the mother of the child.
    Clinical and genetic analysis of hyperekplexia caused by GLRA1 gene mutation: a case report
    CAI Shuying, HUANG Yanru, HU Shuxiang, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  229.  doi:10.3969/j.issn.1000-3606.2020.03.017
    Abstract ( 349 )   PDF (1586KB) ( 335 )  
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    Objective To investigate the clinical and genetic features of hyperekplexi caused by GLRA1 gene mutation. Methods The clinical data of hyperekplexi in a child admitted in July 2019 were retrospectively analyzed. Results There was a boy aged two months and 29 days. Since the neonatal period, the child has developed an excessive startle response such as generalized stiffness and hypertonia to sudden external stimuli. Physical examination exhibited the positive nose-tapping reflex. There were no obvious abnormalities in laboratory tests, electroencephalogram (EEG) and neuroimaging tests. The whole exome sequencing confirmed the heterozygous missense mutation, (NM_000171.3), c.920A>G, in GLRA1 gene. The mutation was not found in either parent, and it was a novo mutation. The missense mutation has not been reported internationally and is suspected to be pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. After oral treatment with clonazepam, the symptoms of the child were significantly improved, but the muscle tension of the limbs was still high. Conclusion The hyperekplexia was confirmed in a child due to a mutation in the GLRA1 gene. Genetic analysis could help in early diagnosis and treatment.
    Guidelines for prevention and treatment of childhood bronchial asthma with SARS-CoV-2 infection
    WANG Yingshao, ZHOU Yunlian, ZHANG Yuanyuan, et al
    Journal of Clinical Pediatrics. 2020, 38(3):  233.  doi:10.3969/j.issn.1000-3606.2020.03.018
    Abstract ( 178 )   PDF (1030KB) ( 241 )  
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    Effect of patent ductus arteriosus on multiple organ function in extremely low birth weight infants
    SONG Yifan, LI Juan
    Journal of Clinical Pediatrics. 2020, 38(3):  236.  doi:10.3969/j.issn.1000-3606.2020.03.019
    Abstract ( 135 )   PDF (1035KB) ( 306 )  
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