Table of Content

15 March 2019 Volume 37 Issue 3

  

Trend of reticulocyte hemoglobin content in preterm infants with different gestational ages in 7 days after birth

WU Yan, ZHONG Xiaoyun, YANG Guilin, et al

Journal of Clinical Pediatrics. 2019, 37(3):  161.  doi:10.3969/j.issn.1000-3606.2019.03.001

Abstract ( 534 )   PDF (1265KB) ( 251 )  

Related Articles | Metrics

　Objective　To establish the reference range of reticulocyte hemoglobin content (Ret-He) in premature infants with different gestational ages (GA), and to evaluate the trend of change in Ret-He within 7 days after birth. Method　The RetHe values of premature infants with different gestational ages were measured at 24 hours, 2-3 days and 7 days after birth, and the correlation between Ret-He values and gestational age was analyzed. Results　A total of 1286 blood samples were collected from 699 premature infants. Gestational age was positively correlated with Ret-He levels at 24 hours (n=699, r=0.126, P=0.002), 2-3 days (n=440, r=0.487, P<0.001) and 7 days (n=147, r=0.510, P<0.001) after birth. The correlation was increased over the age. The average Ret-He levels of 147 premature infants at 24 hours, 2-3 days and 7 days after birth were 32.18, 27.82 and 28.85 pg respectively The Ret-He levels at 2-3 days after birth in preterm infants with different gestational ages were lower than those at 24 hours, and there was statistically difference (P<0.001). The Ret-He levels increased slightly from 2-3 days to 7 days after birth. The Ret-He levels at the 7th day after birth was higher than that at 2-3 days in preterm infants with gestational age of 30-33 weeks, and there was statistically difference (P<0.001). Conclusion　Ret-He was weakly correlated with gestational age and it is decreased significantly in 2-3 days after birth. The Ret-He level at 2-3 days after birth reflects the body's iron level more accurately.

Clinical characteristics and treatment of early-onset neonatal listeriosis

ZHANG Luan, LIN Xiaojie, WANG Fangfang, et al

Journal of Clinical Pediatrics. 2019, 37(3):  165.  doi:10.3969/j.issn.1000-3606.2019.03.002

Abstract ( 658 )   PDF (1215KB) ( 283 )  

Related Articles | Metrics

Objective　To explore the clinical characteristics, treatment with antibiotics and prognosis of neonatal listeriosis. Method　The clinical data of 9 patients with early-onset neonatal listeriosis diagnosed by blood culture from January 2010 to March 2018 were retrospectively analyzed. Results　In 9 patients(6 boys and 3 girls), 7 were premature infants. The average gestational age was 37.1± 2.8 weeks (29+2~39+3 weeks), and average birth weight was 2400±596 g (1370~3300 g). The mothers of 8 infants had prenatal fever, 8 had amniotic fluid pollution, and 6 had fetal distress. All the 9 patients had fever and 6 had tracheal intubation due to asphyxia or respiratory distress. Six patients had generalized maculopapular skin rash and 5 had convulsions. Increased white blood cell counts were found in 7 cases, increased monocyte proportion in 7 cases, and decreased platelet counts in 5 cases. The myocardial enzyme and liver enzyme were increased in 7 cases and C-reactive protein was significantly increased in 8 cases. Six patients received cerebrospinal fluid examination, and 5 had elevated cell counts and decreased glucose level. Blood culture showed gram-positive bacilli growth in all of 9 cases. One patient had ventricular enlargement and one had grade III intracranial hemorrhage. At the beginning, most infants were treated with third generation cephalosporin combined with penicillin or vancomycin, and antibiotics were changed to meropenem combined with penicillin or vancomycin according to blood culture results within 24 hours after admission. One patient was treated with meropenem combined with linezolid because of repeated fever and continuously elevated CRP. Six patients were cured and three died. Conclusions　Neonatal listeriosis is common in premature infants and can be characterized by outbreaks of infection and multiple organ damage. Because the results of antimicrobial susceptibility test in vitro are not completely consistent with those in vivo, the combination of antibiotics has a better bactericidal effect.

Clinical characteristics of congenital leukemia

ZHAN Shihong, CHENG Fangfang, MIAO Jie, et al

Journal of Clinical Pediatrics. 2019, 37(3):  170.  doi:10.3969/j.issn.1000-3606.2019.03.003

Abstract ( 472 )   PDF (1119KB) ( 280 )  

Related Articles | Metrics

Objective　To explore the clinical features, diagnosis and treatment of congenital leukemia. Method　The clinical data of congenital leukemia in 14 children admitted from September 2012 to April 2017 were retrospectively analyzed. Results　In 14 patients (8 boys and 6 girls), the age at the onset was within 1 week after birth in 9 patients. The main clinical manifestations were skin bleeding spots (4 cases), umbilical bleeding (1 case), skin rash (3 cases), jaundice (5 cases), shortness of breath (4 cases), diarrhea (1 case) and fever (1 case). Ten patients had hepatosplenomegaly and 7 were diagnosed with trisomy 21 syndrome. Leukocyte count in peripheral blood increased significantly in 14 children, anemia in 6 cases and thrombocytopenia in 6 cases. Bone marrow examination and blood smears of the children showed immature cells, most of which were acute myeloid leukemia. None of the 14 patients chose to have chemotherapy. Seven patients were lost to follow-up. Five patients died within a short time and the survival time was less than 1 month. Two children with trisomy 21 syndrome were currently in spontaneous remission. Conclusion　Congenital leukemia develops rapidly, but it may also spontaneously alleviate.

Clinical and genetic analysis of congenital glucosegalactose malabsorption in one case

LI Yupin, BU Jingyu, HU Chongkang, et al

Journal of Clinical Pediatrics. 2019, 37(3):  173.  doi:10.3969/j.issn.1000-3606.2019.03.004

Abstract ( 508 )   PDF (2000KB) ( 202 )  

Related Articles | Metrics

　Objective　To analyze the clinical features and SLC5A1 gene mutation of congenital glucose-galactose malabsorption (CGGM) in a child. Method　The clinical data of a child with CGGM diagnosed and treated in November 2016 were collected. The mutation of SLC5A1 gene was detected by exome sequencing of single gene disease (family). Results　The boy began to have diarrhea on the third day after birth, stools being yellow watery, having fever but no chills. Multiple electrolyte tests showed a significant increase in blood sodium with the highest value at 162 mmol/L. Two variants of SLC5A1 gene, c.406 (exon 5) delT and c.92T>A (exon 1), were found to be highly correlated with glucose-galactose malabsorption disorder (OMIM: 606824) by whole-gene exon examination. Parents of the boy had normal phenotype and his mother had heterozygous C. 92T > A. The results of glucose and fructose provocation tests suggested that the boy had sugar malabsorption and the diagnosis of glucose-galactose malabsorption was confirmed. Therefore, the children were fed with carbohydrate free liquid milk and fructose. In half a day, the child's stool turns into solid. And the child was discharged at the age of 10 months and the condition of the patient was good at follow-up. Conclusion　CGGM is a rare autosomal recessive hereditary disease. Persistent watery diarrhea occurs soon after birth. Gene analysis can confirm the diagnosis. Early diagnosis and carbohydrate free liquid milk and fructose feeding are important for prognosis.

Analysis of C-KIT gene mutation in pediatric core binding factor acute myeloid leukemia

WU Jun, YU Shui, LU Aidong, et al

Journal of Clinical Pediatrics. 2019, 37(3):  177.  doi:10.3969/j.issn.1000-3606.2019.03.005

Abstract ( 598 )   PDF (1255KB) ( 380 )  

Related Articles | Metrics

Objective　To explore the relationship between C-KIT gene mutation and clinical characteristics and prognosis of pediatric core binding factor acute myeloid leukemia (CBF-AML). Method　The C-KIT gene mutation, clinical and laboratory characteristics and prognosis of CBF-AML in children were retrospectively analyzed. Results　Among 86 children with CBF-AML, 35 (40.7%) were positive for C-KIT gene mutation. The detection rate of exon 8 mutation in C-KIT gene was significantly higher in children with inv(16)/CBFβ-MYH11 than children with t(8;21)/RUNX1-RUNX1T1, and the difference was statistically significant (P<0.01). Between the C-KIT gene mutation positive and negative groups, there are no statistically significant differences in gender, age, initial white blood cell count, proportion of immature bone marrow cells at first diagnosis, other concomitant genes, extramedullary leukemia, and complete remission rate in the first course of treatment (P>0.05). The 5-year event-free survival rate was 82.8% and 76.4% respectively in the positive and negative groups of C-KIT gene mutation, and the overall survival rate was 89.3% and 85.9% respectively. The differences were not statistically significant between the two groups (P>0.05). Conclusion　The incidence of C-KIT gene mutation is higher in children with CBF-AML and it has no significant effect on the prognosis.

Normal value of pulmonary function and its related factors in rural children in Suzhou city

DAI Yinfang, MENG Ning, WANG Yuqing, et al

Journal of Clinical Pediatrics. 2019, 37(3):  182.  doi:10.3969/j.issn.1000-3606.2019.03.006

Abstract ( 389 )   PDF (1191KB) ( 283 )  

Related Articles | Metrics

Objective　To investigate the correlation of lung ventilation function with gender, age, height and weight in healthy children aged 5-14 years in rural and urban areas. Method　A total of 1076 rural children aged 5-14 years were screened. According to the normal height and weight range of Chinese children, 605 healthy children (309 males and 296 females) were selected. During the same period, children aged 5-14 years in urban areas were screened in the same way and 540 healthy children (267 males and 273 females) were selected. The forced expiratory volume in one second (FEV1) and peak expiratory flow (PEF) rate were measured by pulmonary function instrument. And the correlation of FEV1 and PEF with age, height and weight of children were analyzed by multiple linear regression. The normal lung function values of urban and rural children in the same sex and age groups were compared. Results The lung functions of 605 rural children and 540 urban children were all measured to be normal. FEV1 and PEF increased gradually over children's age, and their differences were significant among different age groups (P<0.01). In children aged 9~10 years and 14~15 years, FEV1 was larger in boys than that in girls, and among children aged 7~8 years, 13~14 years and 14~15 years, PEF was larger in boys than that in girls, and there were significant differences (P<0.05). Multiple linear regression analysis found that height had the most significant effect on FEV1 in all children (β=0.532, P<0.001). FEV1 and PEF in boys were positively correlated with their height and weight. FEV1 and PEF in girls were positively correlated with their age, height and weight, and height was the most significant factor. Normal values of lung function between rural and urban children in all age groups were compared. It was found that FEV1 of boys aged 6-7 and 8-9 years was larger in urban areas than that in rural areas, and FEV1 of girls aged 6-7 and 9-10 years was larger in urban areas than that in rural areas, and the differences were statistically significant (P<0.05). Conclusion FEV1 and PEF were correlated with children's height, weight and age. Height had the most significant effect, while age had the least effect. There was no difference in normal lung function of children between urban and rural areas in Suzhou.

Clinical analysis of thrombotic microangiopathy in 17 children

LIN Tiantian, CHEN Chaoying

Journal of Clinical Pediatrics. 2019, 37(3):  188.  doi:10.3969/j.issn.1000-3606.2019.03.007

Abstract ( 399 )   PDF (1161KB) ( 216 )  

Related Articles | Metrics

Objective　To explore the clinical characteristics, diagnosis, treatment and prognosis of thrombotic microangiopathy (TMA) in children. Method　The clinical data of 17 TMA children admitted from July 2008 to December 2017 were retrospectively analyzed. Results　Eight male and nine female children with an average age being 4.5±1.8 years had hemolytic anemia, thrombocytopenia and acute renal insufficiency,. All the 17 children were treated with plasma therapy, dialysis, hormones and immunosuppressive agents. Ten children were cured or discharged after improvement. Two children were treated in other hospitals and 2 gave up treatment and 3 died. Conclusion　TMA is an acute clinical syndrome characterized by microvascular hemolytic anemia, thrombocytopenia and organ involvement caused by platelet thrombosis in microcirculation. Early diagnosis and individualized comprehensive treatment can improve the prognosis.

Clinical analysis and genetic diagnosis of X-linked agammaglobulinemia

LI Ying, ZHANG Cui, YANG Ying, et al

Journal of Clinical Pediatrics. 2019, 37(3):  192.  doi:10.3969/j.issn.1000-3606.2019.03.008

Abstract ( 610 )   PDF (1181KB) ( 273 )  

Related Articles | Metrics

Objective　To analyze the clinical features of X-linked agammaglobulinemia (XLA) and the gene mutation of Bruton tyrosine kinase (BTK). Method　The clinical data of 20 children with XLA confirmed by genetic testing were retrospectively analyzed, and the mutation of BTK gene was analyzed by Sanger sequencing. Results　All the 20 cases were male, and the age at onset was from 6 to 54 months, and an average age was 26.3±14.61 months. The age at gene diagnosis was from 26 to 168 months and an average age was 64.7±38.22 months. The median diagnostic period was 27.5 months (3~114 months). Respiratory tract infection was the main clinical manifestation of all cases: 18 cases were diagnosed of pneumonia and the other 2 cases were diagnosed of digestive tract infection. Immune function test showed that either mature B lymphocytes were absent or the proportion of mature B lymphocytes was significantly reduced, and serum IgG, IgA and IgM levels were significantly reduced. Gene detection revealed 10 missense mutations, 4 nonsense mutations, 3 frameshift mutations, 2 intron shear site mutation and 1 splicing mutation. Twenty patients were received intravenous gamma globulin replacement therapy after the diagnosis, and the frequency of infection was significantly reduced without sequelae. Conclusion　For boys with recurrent severe and special site infection, especially those with related family history, immune function screening should be performed as soon as possible, along with genetic testing, for clear diagnosis and genetic counseling.

Clinical analysis of congenital tuberculosis in 20 children

WU Xiaoying, XU Hongmei, ZHAO Ruiqiu

Journal of Clinical Pediatrics. 2019, 37(3):  196.  doi:10.3969/j.issn.1000-3606.2019.03.009

Abstract ( 430 )   PDF (1180KB) ( 189 )  

Related Articles | Metrics

　Objective　To explore the clinical features of congenital tuberculosis. Method　The clinical data of congenital tuberculosis in 20 infants were retrospectively analyzed. Results　The mothers of 19 infants (95.0%) were found to have tuberculosis in pregnancy and only five (25%) were diagnosed with tuberculosis pre-partum. The median age at onset was 26 days (1-90 days). Among the 20 infants, cough was a symptom in 15 infants, fever in 14 infants, respiratory distress in 12 infants, hepatosplenomegaly in 9 infants, and abdominal distension in 7 infants. Acid-fast bacillus smear or tuberculosis culture was positive in 10 infants, and T-SPOT was positive in 9 infants. Chest imaging findings were abnormal in all 20 infants, including extensive nodules and patchy shadows in 12 infants, diffuse miliary nodules in 6 infants, and sporadic patchy shadows in right lung in 2 infants. Abdominal ultrasonography and/or CT were performed in 16 infants, and multiple nodules in liver and spleen were found in 7 infants, lymph node enlargement in abdominal cavity in 6 infants, and ascites in 6 infants. The main sites of tuberculosis infection were lung (in all 20 cases), liver (in 7 cases), spleen (in 7 cases), peritoneal cavity (in 8 cases) and brain (in 7 cases). Because 3 infants were in critical condition, their families asked to terminate the diagnosis and treatment, and they did not receive antituberculosis drugs. In the remaining 17 infants who were treated with anti-tuberculosis drugs, 10 infants were discharged after their condition improved, and 7 infants gave up treatment after their condition worsened. Conclusion　Congenital tuberculosis is often characterized by systemic disseminated infection. The early diagnosis rate can be improved by combination of maternal tuberculosis history during pregnancy, repeatedly searching for etiological evidence, imaging examination, T-SPOT and other auxiliary examinations. Early and standard anti-tuberculosis treatment is expected to reduce the mortality rate.

Investigation and analysis of clinical characteristics of bone damages in patients with congenital insensitivity to pain with anhidrosis

WANG Qingli, HU Guangjun, TAN Shigang, et al

Journal of Clinical Pediatrics. 2019, 37(3):  200.  doi:10.3969/j.issn.1000-3606.2019.03.010

Abstract ( 459 )   PDF (1117KB) ( 161 )  

Related Articles | Metrics

　Objectives　To explore the clinical features of skeletal injury in patients with congenital insensitivity to pain with anhidrosis (CIPA). Method　The age at onset, location, number of recurrences, causes, treatment and prognosis of skeletal injury in patients were retrospectively analyzed. Results　Most of the bone injuries occurred repeatedly in multiple places without obvious inducement. The age at onset being mostly from 3 to 6 years, and most of the injuries occurred in the lower limbs. The bone injury happened 100% in patients over 6 years old. Conclusion　Repeated bone damage in patients with CIPA may be due to skeletal dysplasia caused by NTRK1 gene mutation.

Acute disseminated encephalomyelitis treated with plasma exchange in children: a report of 2 cases and literature review

WANG Yong, KE Zhongling, LIN Mingxing, et al

Journal of Clinical Pediatrics. 2019, 37(3):  203.  doi:10.3969/j.issn.1000-3606.2019.03.011

Abstract ( 395 )   PDF (1666KB) ( 311 )  

Related Articles | Metrics

Objective　To explore the efficacy and safety of plasma exchange in the treatment of acute disseminated encephalomyelitis (ADEM) in children. Method　The clinical data of ADEM in 2 children were retrospectively analyzed. The related literature from January 1998 to January 2018 were retrieved from WanFang database and PubMed database and analyzed. Results　Two boys aged 5 and 2 years respectively had fever, convulsion, consciousness disturbance and other manifestations of encephalopathy. Imaging showed multiple white matter lesions, which met the diagnostic criteria of ADEM. After the treatment with high dose of hormone and immunoglobulin, the disease still progressed and patients had the increased muscle weakness, deeper coma and respiratory failure. After ventilator-assisted breathing and plasma exchange about 2 weeks after diagnosis, the symptoms were rapidly relieved and the patients had gradual recovery of consciousness and muscle strength, and was successfully weaned from the ventilator. The two boys were followed up for 1 year and 6 months respectively, and no neurological symptoms were found. Conclusion　Plasma exchange can be used as a salvage treatment when children with ADEM do not respond well to high-dose steroids and gamma globulin therapy and the disease progressed rapidly.

Clinical and genetic analysis of limb girdle muscular dystrophy 1B in 2 cases

ZHAO Guozhu, TANG Jiapeng

Journal of Clinical Pediatrics. 2019, 37(3):  209.  doi:10.3969/j.issn.1000-3606.2019.03.012

Abstract ( 466 )   PDF (1449KB) ( 153 )  

Related Articles | Metrics

Objective　To explore the clinical characteristics of limb girdle muscular dystrophy (LGMD) 1B and the mutation features of its pathogenic gene LMNA. Method　The clinical data of 2 children with LGMD 1B and their family members were retrospectively analyzed. Screening and validation of possible pathogenic mutation sites were performed by high-throughput sequencing and Sanger sequencing. The pathogenicity of mutation sites was analyzed by literature review, bioinformatics analysis, and muscle tissue biopsy. Results　In one boy aged 3 years and 6 months and one girl aged 4 years, both showed difficulty in walking, fatigue easily and muscle weakness of limbs. Creatine kinase and its isoenzymes were increased. No myogenic damage was found by electromyography. Muscle biopsy showed that the size of muscle fibers varied, and the number of nuclei in muscle fibers increased significantly, which are in accord with the manifestation of muscular dystrophy. The results of high throughput sequencing showed that there were heterozygous mutations in LMNA gene, c.67C>T (p.P23S) and c.1039G>T (p.E347X), in both children respectively, among which C.67C>T had not been reported before. Bioinformatics suggested that this site was pathogenic and conservative among different species. Conclusion　Gene detection is helpful for the diagnosis of LGMD1B.

Bainbridge-Ropers syndrome: a case report and literature review

GOU Jing, ZHOU Shaoming, CAI Huabo, et al

Journal of Clinical Pediatrics. 2019, 37(3):  212.  doi:10.3969/j.issn.1000-3606.2019.03.013

Abstract ( 946 )   PDF (1354KB) ( 232 )  

Related Articles | Metrics

　Objective　To explore the clinical features and genetic characteristics of Bainbridge-Ropers syndrome. Method　The clinical data of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A boy aged 1 year and 1 month had the main clinical manifestations of psychomotor retardation, feeding difficulties, muscle hypotonia and special facial features. A heterozygous mutation c.3106C>T (p.R1036*) in exon 12 of ASXL3 gene was identified by the whole exon sequencing, and the patient was diagnosed with Bainbridge-Ropers syndrome. Currently more than 30 cases have been reported in domestic and foreign literature. Almost all patients had severe retardation in motor, language and mental development. Conclusion　Bainbridge-Ropers syndrome is a disease associated with ASXL3 gene deletion mutation. Its main clinical features include mental and motor retardation, difficulty in feeding, muscle hypotonia and special facial features.

The clinical, pathological and pathogenic gene characteristics of Frasier syndrome: a case report

LIANG Fangfang, PENG Cheng, HUANG Yanyan, et al

Journal of Clinical Pediatrics. 2019, 37(3):  215.  doi:10.3969/j.issn.1000-3606.2019.03.014

Abstract ( 644 )   PDF (1260KB) ( 206 )  

Related Articles | Metrics

　Objective　To analyze the clinicopathological and pathogenic gene characteristics of Frasier syndrome. Method　The clinicopathological features, genetic testing results and diagnosis and treatment of Frasier syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　The child had external female genitalia, with a 46, XY karyotype, and suffered from gonadal dysplasia (bilateral ovaries were not developed). The age at onset of nephropathy was 6 years old, and hormone therapy was ineffective. The child was treated with tacrolimus and rituximab successively. Although the serum albumin and cholesterol levels were improved and the renal function was normal, the urinary protein could not turn negative. Kidney biopsy revealed focal segmental glomerulosclerosis, a non-specific type with partial glomerulosclerosis. No gonadal tumors or Wilms tumors were found. Splice mutation of c.1432+5G>A in exon 9 of WT1 gene was detected by gene analysis, which was a spontaneous mutation and was reported to be associated with the pathogenesis of Frasier syndrome. Conclusion　The clinical manifestations of Frasier syndrome are mainly progressive nephropathy, male pseudohermaphroditism and genitourinary malformation. It is related to WT1 gene mutation.

Clinical and PDHA1 gene analysis of Leigh syndrome with pyruvate dehydrogenase complex deficiency in 2 children

LU Xiangpeng, ZHANG Jingtao, LIANG Ruixing, et al

Journal of Clinical Pediatrics. 2019, 37(3):  218.  doi:10.3969/j.issn.1000-3606.2019.03.015

Abstract ( 662 )   PDF (1294KB) ( 307 )  

Related Articles | Metrics

Objective　To explore the clinical characteristics, diagnosis and treatment of Leigh syndrome with pyruvate dehydrogenase complex E1 α subunit deficiency caused by PDHA1 gene mutation. Method　Two boys visited doctors because of psychomotor retardation. Leigh syndrome was suggested by magnetic resonance imaging (MRI) and confirmed by biochemical metabolism and genetic tests. The clinical data were retrospectively analyzed. Results　Two boys visited a doctor at the age of 13 month and 4 months respectively for mental retardation, dystonia and muscle weakness at the age of 13 months and 4 months respectively. Brain MRI revealed symmetrical lesions in bilateral basal ganglia. Serum pyruvic acid and lactic acid levels increased significantly, while blood amino acid and acylcarnitine profiles were normal. Genetic analysis revealed missense mutations in the X chromosome PDHA1 gene , c.615C>G and c.605A>G, in the two boys respectively, which were new mutations never reported. Therefore, the two boys were diagnosed with Leigh syndrome caused by pyruvate dehydrogenase complex E1 α subunit deficiency. Conclusion　The clinical manifestations of PDHA1 gene mutation in children are complex and varied. The possibility of mitochondrial disease should be considered in children with developmental retardation of unknown cause. Gene detection is helpful for diagnosis, treatment and genetic counseling.

Ohtahara syndrome caused by SCN2A gene mutation in 2 children: a case report and literature review　

MIAO Pu, WANG Jianda, GUO Yufan, et al

Journal of Clinical Pediatrics. 2019, 37(3):  223.  doi:10.3969/j.issn.1000-3606.2019.03.016

Abstract ( 910 )   PDF (1557KB) ( 747 )  

Related Articles | Metrics

　Objective　To explore the phenotypic characteristics of Ohtahara syndrome caused by SCN2A gene mutation (SCN2A-OS) and clinical application of phenytoin sodium. Method　The phenotypic characteristics, clinical diagnosis, treatment and prognosis in 2 children with SCN2A-OS diagnosed and treated in October 2017 were retrospectively analyzed, and the related literature was reviewed. Results　Both the two children were male, and the age at onset of the disease was 1 day and 2 months respectively. Both of them had spasm and tonic seizures and developmental delay. Electroencephalogram (EEG) results showed burst-suppression. Many kinds of antiepileptic drugs were ineffective. The treatment with phenytoin was effective, and no obvious adverse reactions were observed in the recent follow-up. A new missense mutation of SCN2A gene, c.2995G>A (NM_021007), was detected in case 1, and another new missense mutation of c.4015A>G was detected in case 2, and both were the first reported. At present, 25 children with SCN2A-OS have been reported at home and abroad. The onset age of epilepsy fluctuated from 1 day to 60 days after birth (median age was 1 day), and the most common initial epilepsy type was tonic seizure. EEG of all children showed typical burst-suppression features and 52% of them turned to hypsarrhythmia later. During follow-up period, seizure free was in 11 children and phenytoin was effective in 9 children. Conclusion　SCN2A-OS patients have seizure onset at early age, poor prognosis and poor response to multi-antiepileptic drugs. Phenytoin could control seizure effectively.

Advances in etiology and treatment of Langerhans cell histiocytosis in children

FANG Kaihong, XU Qianyue

Journal of Clinical Pediatrics. 2019, 37(3):  228.  doi:10.3969/j.issn.1000-3606.2019.03.017

Abstract ( 687 )   PDF (1165KB) ( 426 )  

Related Articles | Metrics

　Langerhans cell histiocytosis (LCH) is a rare disease characterized by abnormal accumulation of immature dendritic cells in tissues. With the discovery of BRAFV600E gene mutation, the etiology and pathogenesis of LCH have become clear, but the diverse clinical manifestations of LCH still result in difficulties of its treatment. This article reviews the latest progress in the etiology, pathogenesis and treatment of LCH in recent years.

Advances in virulence genes and pathogenicity of Helicobacter pylori

SHI Meng

Journal of Clinical Pediatrics. 2019, 37(3):  233.  doi:10.3969/j.issn.1000-3606.2019.03.018

Abstract ( 486 )   PDF (1160KB) ( 205 )  

Related Articles | Metrics

　Helicobacter pylori (H. pylori) infection is the most common chronic bacterial infection in humans, affecting more than 50% of the world’s population. Most H. pylori infections are acquired in childhood and are closely related to chronic atrophic gastritis, peptic ulcer, gastric mucosa-associated lymphoid tissue (MALT) lymphoma, and gastric cancer. In addition, it may be involved in a variety of extra-gastrointestinal diseases, such as iron deficiency anemia, growth retardation, idiopathic thrombocytopenic purpura, etc. H. pylori infection causes great harm to children's health, and its pathogenicity is mainly related to the polymorphism of its virulence genotype. This article reviews the characteristics and pathogenicity of H. pylori virulence gene.

Mechanism and progress of Lactobacillus rhamnosus GG strain in the prevention and treatment of milk protein allergy

CHEN Fan, SHU Sainan

Journal of Clinical Pediatrics. 2019, 37(3):  237.  doi:10.3969/j.issn.1000-3606.2019.03.019

Abstract ( 403 )   PDF (1058KB) ( 357 )  

Related Articles | Metrics