Journal of Clinical Pediatrics

A case of X-linked spondyloepiphyseal dysplasia tarda with TRAPPC2 gene mutation

WANG Lili, WU Haiying, SUN Hui, et al

Journal of Clinical Pediatrics. 2020, 38(5): 321. doi:10.3969/j.issn.1000-3606.2020.05.001

Abstract ( 429 )

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Objective　To analyze the clinical and genetic characteristics of X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) caused by the mutation of TRAPPC2 gene. Methods　The clinical data and genetic results of a SEDT-XL family were retrospectively analyzed. Results　The proband, a 9 years and 2 months old boy, was 115 cm (

Clinical characteristics of Hajdu-Cheney syndrome induced by NOTCH2 gene mutation and follow-up: a case report and literature review

WU Yanming, WANG Li, LI Qun, et al

Journal of Clinical Pediatrics. 2020, 38(5): 324. doi:10.3969/j.issn.1000-3606.2020.05.002

Abstract ( 910 )

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　Objective　To explore the clinical manifestations and pathogenic gene characteristics of Hajdu-Cheney syndrome (HCS) caused by NOTCH2 gene mutation. Method　The clinical and follow-up data of a boy with HCS were retrospectively analyzed, and the relevant literatures were reviewed. Results　A child, male, 11 years and 8 months old, had abnormal finger terminal development, special face, short stature and compression fracture of the thoracic vertebra after fall. Imaging revealed acroosteolysis and basilar invagination. High-throughput sequencing identified a de novo heterozygous mutation of c.6449_6450delCT (p.Pro2150Argfs*2) in the NOTCH2 gene of the child, which has not been reported. Conclusion Gene detection is helpful for the diagnosis of HCS.

IFT140 homozygous mutation causes Mainzer-Saldino syndrome: a case report with literature review

WEI Haixia, SUN Liangzhong, LIN Hongrong, et al

Journal of Clinical Pediatrics. 2020, 38(5): 328. doi:10.3969/j.issn.1000-3606.2020.05.003

Abstract ( 658 )

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Objective　Mainzer-Saldino syndrome (MSS) is a rare nephronophthisis associated ciliopathy with skeletal dysplasia. This study is aim to summarize the clinical features and genetic analysis of a child with IFT140 mutation-associated MSS. Related literatures were reviewed. Methods　Clinical data and blood sample of the proband were collected, and Whole-exome sequencing and bioinformatics analysis were performed. Results　The child was a 5-year-old female, and she was firstly noticed with amblyopia at 3 years old. At the age of 5 years and 8 months, she was found to have anemia and was on the end stage renal disease. Retinal degeneration and cone-shape phalanges were revealed. Genetic testing identified a homozygous mutation of c.634G>A (p.G212R) in IFT140, which was predicted to be pathogenic. The mutations were inherited from her parents. Conclusion　MSS has characteristic clinical manifestations, and genetic testing is helpful to confirm the diagnosis of MSS.

X-linked intellectual disability caused by OPHN1 gene mutation: a case report and literature review

MA Hongxia, GUO Yuxiong, ZHAI Qiongxiang

Journal of Clinical Pediatrics. 2020, 38(5): 331. doi:10.3969/j.issn.1000-3606.2020.05.004

Abstract ( 1030 )

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Objective To report a case of X-linked intellectual disability and explore the relationship between its clinical phenotype and genotype. Method　The clinical data of a male child with epilepsy and intellectual disability were retrospectively analyzed. The whole exome capture sequencing was used to analyze the gene mutation. Results　The male child had delayed development in the 4th month of age. Seizure was noted in the 5th months of age. Mental retardation was found when he was 4-years old. The tested visual acuity suggested high myopia at 7 years old. Scalp EEG recording indicated epileptic discharge. Mega cisterna magna was observed on brain MRI. The total intelligence quotient was 49. Social adaptive quotient was assessed as moderately abnormal. Sequence analysis demonstrated a novel frameshift mutation c.1641delA (p.K547fs*5) in exon 19 of OPHN1 gene in the patient. The family co-separation verification found that the healthy mother carried the variation. According to the ACMG guidelines, the mutation was classified as pathogenic. The anti-epilepsy drugs sodium valproate and lamotrigine were effective. Conclusions　The OPHN1 gene mutation c.1641delA(p.K547fs*5) may be the cause of X-linked intellectual disability. The clinical phenotypes of the patient included epilepsy, moderate intellectual disability, high myopia and mega cisterna magna on brain MRI.

KBG syndrome: a case report and literature review

CAO Yuhong, ZHANG Liyi , CAO Kaifang, et al

Journal of Clinical Pediatrics. 2020, 38(5): 335. doi:10.3969/j.issn.1000-3606.2020.05.005

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　Objective　To explore the clinical features of KBG syndrome and the characteristics of its gnetic mutation. Method　The clinical data and molecular genetic test results of KBG syndrome in a child were retrospectively analyzed, and the relevant literature was reviewed. Results　A boy aged 1 years and 11 months old visited us for psychomotor retardation, deafness and convulsion. He presented a distinctive appearance such as short stature, ptosis, hypertelorism, epicanthal folds, prominent ears and nasal bridge, bulbous nose, long philtrum, macrodontia of the central incisors, clinodactyly and brachydactyly in the hand. Echocardiography showed patent ductus arteriosus. Video-EEG monitoring showed that the epileptic discharge was localized in bilateral parietal and occipital lobes. Genomic sequencing and bioinformatics analysis showed that there was a novel heterozygous mutation of c.316C>T in exon 6 of ANKRD11 gene, leading to premature termination of protein coding (p.R106X). This mutation was predicted to be pathogenic. So the diagnosis of KBG syndrome was confirmed. A total of 28 articles were retrieved. There are about 200 KBG patients reported in the literature, of whom 71% are with ANKRD11 gene mutations and 29% are with 16q24.3 microdeletions, and the ratio of male to female is 1.5:1. The main clinical manifestations of KBGS patients included craniofacial deformity (99%), giant tooth deformity (84%), mental retardation (90%), behavior problems (60%), bone abnormality (75%), short stature (50%) and hearing abnormality (32%). Conclusions　The mutation spectrum of ANKRD11 gene in KBG syndrome has been expanded, and gene detection is helpful for the early diagnosis of KBG syndrome.

Case report and literature review of two cases of NBAS gene deficiency in a family

WU Feifei, CUI Dong, HU Yuhui, et al

Journal of Clinical Pediatrics. 2020, 38(5): 339. doi:10.3969/j.issn.1000-3606.2020.05.006

Abstract ( 971 )

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Objective　To investigate the pathogenesis, clinical features, diagnosis and treatment of diseases caused by NBAS gene deficiency. Methods　Retrospectively analyze the clinical features, laboratory tests, genetic diagnosis, treatments and prognosis of two children with NBAS gene deficiency. Results　The proband is a 14 years and 6-months old boy, and his younger sister is 7-years and 11-months old. Both patients have progeroid face, optic atrophy, achromatopsia, short stature, liver dysfunction, hyperammonemia and hyperlactemia. Blood smear staining suggested abnormal Pelger-Hu?t granulocytes. The gene detection showed both the proband and his younger sister had c.5752A>C and c.1599+1G>C compound heterozygous mutations in NBAS gene inherited from their parents. c.5752A>C was already reported while c.1599+1G>C is a novel splicing mutation. Even without special treatment, the liver function of both patients has improved significantly with age. Conclusions　NBAS gene deficiency is a rare disease affecting optic nerves, liver and skeletal system. Patients mainly presented with progeroid face, optic atrophy, short stature and hepatic dysfunction. Genetic analysis was helpful for diagnosis. Currently, there is no specific treatment of this disease, and usually symptomatic treatment was applied.

Analysis of clinical phenotype and gene diagnosis in two patients with Mowat-Wilson syndrome

JIANG Shiyuan, SHI Yumei

Journal of Clinical Pediatrics. 2020, 38(5): 343. doi:10.3969/j.issn.1000-3606.2020.05.007

Abstract ( 930 )

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Objective　To investigate the clinical and genetic features of two patients diagnosed with Mowat-Wilson syndrome (MWS). Methods　Clinical data of two patients with Mowat-Wilson syndrome were collected, and gene mutations and microdeletion/microduplication were analyzed by next generation sequencing (NGS) and chromosomal microarray analysis. Results　Two patients (a boy and a girl) aged 3 years old and 1 year and 4 months old with global developmental delay were recruited in this study. The patients presented with mental retardation, motor and speech delay, hypotonia, cardiac malformation and genitourinary malformation, and both patients had corpus callosum dysplasia. Although electroencephalogram suggests slow spikes and slow waves, epileptic symptoms are not present in the patient 1. Genomic CNVs tests found a 1.95Mb loss in 2q22.3 region, that include ZEB2 gene region, and the deletion was found to be de novo using real-time PCR. A de novo heterogeneous mutation in ZEB2 gene (IVS1-2A>G) was found in patient 2 using NGS. Conclusion　Patient diagnosed with Mowat-Wilson syndrome often has abnormal facial features, language and motor development delay, multiple malformations, callosal dysplasia, and so on. Gene detection is helpful for diagnosis.

Rahman syndrome caused by HIST1H1E gene mutation: a case report and literature review

LI Yan, LUO Yanfei, SUN Guanghui, et al

Journal of Clinical Pediatrics. 2020, 38(5): 347. doi:10.3969/j.issn.1000-3606.2020.05.008

Abstract ( 897 )

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Objective　To analyze the clinical manifestations and genetic change of Rahman syndrome caused by HIST1H1E gene. Methods　Clinical data of a patient with Rahman syndrome caused by HIST1H1E gene mutation in our hospital in October 2018 were retrospectively analyzed the and the related literature retrieved using "Rahman syndrome", "HIST1H1E gene", "histone H1"and "mutation" as the key words, in Chinese Knowledge Databases, Wanfang Data, Wiper Databases and PUBMED database before December 2019 were reviewed. Results　A boy aged 2 years and 8 months old came to our hospital because of developmental retardation for more than 2 years. Physical examination found increased weight and large head circumference, high hairline, full cheeks, telecanthus, short palpebral fissures, scrotum without palpable testicles, but with firm mass in inguinal regions. Blood Amino acid and carnitine spectrum test showed a increase of hydroxyl isovalerate carnitine and acetyl carnitine, combining with a decrease of ornithine. Scrotum ultrasound revealed bilateral testis tissue in inguinal region. Bone age is consistent with the age of five and a half years. Echocardiographic and pituitary MRI showed normal. Child Developmental Screening Test with DQ<50 and MI <48.Whole exome sequencing identified a heterozygous mutation of c.446dupA (p.Ser150Glufs*46) on HIST1H1E gene. It's the first case with Rahman syndrome reported in china and this variant has not been reported in the Human Gene Mutation Database (HGMD) and gnomAD. Meanwhile this is a de novo frameshift mutation classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG). There are 31 cases (13 males and 18 females) with HIST1H1E gene mutation founded in four English publications. Fourteen mutations were included, all of which were frameshift mutation located in the 94 base pair region of C-terminal domain in HIST1H1E gene, which resulted in the formation of the same mutant protein with a 38-amino-acid tail. Conclusion　Rahman syndrome is a rare autosomal dominant hereditary disease caused by HIST1H1E gene mutation, which is characterized by similar facial dysmorphism, combining with varied body overgrowth and intellectual disability. Whole exome sequencing may be helpful for early diagnosis.

A family of mucopolysaccharidosis type Ⅱ caused by a synonymous variant in IDS gene

DENG Shengyong, GAO Wanchun, ZHONG Min, et al

Journal of Clinical Pediatrics. 2020, 38(5): 351. doi:10.3969/j.issn.1000-3606.2020.05.009

Abstract ( 430 )

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　Objective　To explore clinical features and genetic diagnosis of a family with mucopolysaccharide II (MPS II). Methods　Clinical data of the patient and his family members were collected, imaging and urine mucopolysaccharide qualitative tests were performed, DNA of patients and family members was extracted, and genetic analysis was carried out by next generation sequencing and Sanger sequencing. Enzyme activities of iduronate-2-sulfatase were performed for the proband and his mother. Results　The proband was a 15 years old male, with physical developmental disorder and hearing loss. Imaging test showed enlarged ventricle system, and vertebrae, ribs and other bone dysplasia. Urine mucopolysaccharide was positive, which lead to preliminary diagnosis of MPS II. In his family, 6 patients and 1 suspected child were all male. In addition to the proband, another patient still survived. One suspected child was diagnosed with hydrocephalus during the prenatal diagnosis at 7th month of pregnancy and terminated, the other four patients were all died. Gene tests found an IDS synonymous mutation (exon 8, C. 1122C > T) in the patient, and another 5 female carriers were identified. The enzyme activities of iduronate-2-sulfataseare were respectively 0 nmol/4hr/mg (the proband) and 6.96 nmol/4hr/mg (mother). Conclusion　The proband was diagnosed as MPS II, and several male patients and female carriers of pathogenic variant in the family members were identifies. This provided a basis for genetic counseling.

Mucopolysaccharidosis type Ⅱ caused by a novel mutation of IDS gene: a case report and literature review

CUI Qingyang, LI Shasha, ZHOU Fujun, et al

Journal of Clinical Pediatrics. 2020, 38(5): 355. doi:10.3969/j.issn.1000-3606.2020.05.010

Abstract ( 503 )

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　Objective　To improve the recognition of clinical phenotype and genotype of mucopolysaccharidosis type II. Methods　The clinical data of a child with mucopolysaccharide storage type II was retrospectively analyzed and the related literatures were reviewed. Results　A 5 years and 6 months old boy presenting with developmental delay and facial dysmorphism including rough face, protruding forehead, thick eyebrows, protruding eyes, hepatomegly and splenomegaly, umbilical hernia, and progressive joint limitation. A novel hemizygous mutation of c.820dupG in IDS gene was found by whole exome sequencing which led to the change of amino acid synthesis starting from the 274 amino acid of Glu, and the 68th amino acid was terminated after the change (p.glu274glyfster68). Family verification showed that the variation was inherited from his mother, and his elder brother was found to have the same variant. Conclusion　A novel hemizygous mutation c.820dupG in IDS gene is found to cause mucopolysaccharidosis type Ⅱ.

A caes report and literature review of microcephaly caused by ASPM mutation

MIAO Qinfei, MA Hongxia, CHEN Zhihong, et al

Journal of Clinical Pediatrics. 2020, 38(5): 359. doi:10.3969/j.issn.1000-3606.2020.05.011

Abstract ( 502 )

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Objective　To report a case of microcephaly with a novel mutation in ASPM gene, and to explore the value of gene examination in the diagnosis and treatment of the disease. Methods　Clinical data of a one year and 6 months old girl with microcephaly was retrospectively analyzed, and whole exome of microcephaly-related genes were detected by second generation sequencing. The literature of microcephaly was reviewed. Results　There were two novel mutations in exons 18 (c.8815delA) and exon 3 (c.C1789T) in ASPM gene. Bioinformatics software (Mutation Taster) predicted these two variants were pathogenic. Conclusion　The c.8815delA mutation in exon18 of ASPM gene and the c.C1789T mutation in exon 3 may be one of the causes of primary microcephaly in children. Early gene examination is helpful for early diagnosis of the disease.

The clinical features and outcomes of non-immune hydrops fetalis

ZHOU Ming, WANG Silu, ZHANG Rong , et al

Journal of Clinical Pediatrics. 2020, 38(5): 363. doi:10.3969/j.issn.1000-3606.2020.05.012

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　Objective　To investigate the correlation between intrauterine intervention and clinical features and outcomes of non-immune hydrops fetalis (NIHF). Methods　Clinical data from 33 neonates with NIHF delivered in the Eastern Campus of Shanghai First Maternal and Infant Hospital from January 2014 to December 2016 were summarized. The relevant data of mothers and newborns were collected, and analyzed according to their status as survived (the survival group) or not (the death group). Regression analysis was carried out. Results　There was significant difference in these factors including birth weight, chromosome abnormality, Apgar scores of 1 mins and 5 mins (P<0.05) between death group and survival group. There was no significant difference in the rest factors (P>0.05). The incidence of maternal complications (P<0.05) and intrauterine intervention (P <0.01) in the neonatal intubation group were higher than that in the neonatal non-intubation group, differences were significant. Intrauterine intervention is an independent factor affecting the resuscitation rate in the delivery room (OR=0.065, 95%CI: 0.0110.407). The 1 min Apgar score was a risk factor of mortality for NIHF (OR=1.745, 95% CI: 1.201-2.534). The lower Apgar score and birth weight, the higher the mortality. Conclusions　Intrauterine intervention during pregnancy and the need for resuscitation during delivery are related factors affecting the outcome of NIHF.

Clinical characteristics of children with anti-NMDAR encephalitis and its impact on prognosis

XU Xuanxuan, JIN Peina, MA Wei, et al

Journal of Clinical Pediatrics. 2020, 38(5): 367. doi:10.3969/j.issn.1000-3606.2020.05.013

Abstract ( 412 )

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Objective　To analyze the characteristics of anti-NMDAR (N-methyl-D-aspartate receptor) encephalitis in children and to explore the effect of seizures against NMDAR encephalitis. Methods　Clinical data of 42 children with positive cerebrospinal fluid anti-NMDAR antibodies from April 2014 to January 2019 were divided into two groups according to whether there is an epileptic seizure in the acute phase, and analyzed clinically. Clinical data and the modified ranking scores (mRS) scores of the two groups were compared and effects of seizures against NMDAR encephalitis were analyzed. According to whether there were seizures during follow-up, the mRS scores of the two groups were compared, and analysis of the effect of seizures during recovery on the long-term prognosis of children were performed. Results　Of the 42 children with anti-NMDAR encephalitis, 29 (69%) had epileptic seizures, including 17 (58.6%) with general seizures, 14 (48.3%) with seizures greater than 3 times, and status epilepticus in 15 patients (51.7%). Of the children without epileptic seizures, one patient (7.7%) had a seizure during the follow-up period. The number of nucleated cells in the cerebrospinal fluid between the two groups according to the presence of epilepsy in the acute phase were compared, there is significant difference (P<0.05). According to whether there were seizures during follow-up, the mRS scores of the two groups were compared, and the difference was significant (P<0.05). Conclusion　 Whether children with anti-NMDAR encephalitis are accompanied by seizures in the acute phase, it has no effect on the children's EEG, skull MRI, antibody titer, whether seizures recur in the recovery period and long-term prognosis. The long-term prognosis of children with seizures during the recovery period is poor.

A case of pneumocystis pneumonia in infants diagnosed by next generation sequencing of BALF and literature review

ZHU Qiguo, YUAN Lin, ZHOU Junli, et al

Journal of Clinical Pediatrics. 2020, 38(5): 370. doi:10.3969/j.issn.1000-3606.2020.05.014

Abstract ( 459 )

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　Objective　To investigate the etiology, clinical manifestations, etiological diagnosis and treatment of pneumocystis pneumonia. Methods　The clinical data of a child with pneumocystis pneumonia were retrospectively analyzed. Results　A male infant, aged 2 months and 20 days, presented with chronic cough, shortness of breath, irritability, and hypoxemia. Pulmonary imaging showed diffuse infiltration of both lungs. The metagenomic next-generation sequencing of bronchoalveolar lavage fluid by bronchoscope confirmed pneumocystis infection. Clinical symptoms of the patient disappeared and exudation of lung CT absorbed after treatment with trimethoprim-sulfamethoxazole. Conclusion　Infants should be alerted to pneumocystis pneumonia when having recurrent cough, shortness of breath, hypoxemia and diffuse infiltration in both lungs. Metagenomic next-generation sequencing with bronchoscopic alveolar lavage fluid is a better method for pathogenic diagnosis of pneumocystis pneumonia.

Mycobacterium fortuitum sepsis in children: a case report

FU Binsha, HUANG Meihui, WANG Xuming

Journal of Clinical Pediatrics. 2020, 38(5): 374. doi:10.3969/j.issn.1000-3606.2020.05.015

Abstract ( 338 )

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Objective　To analyze the clinical characteristics of Mycobacterium fortuitum (MF) sepsis in children. Methods　The clinical data of MF sepsis in a child was retrospectively analyzed, and the related literature was reviewed. Results　A 3-year-8-month old boy suffered from fever, cough and other respiratory tract infections. MF was found in blood culture and anti-infection treatment with azithromycin is effective. Conclusions　MF belongs to nontuberculous Mycobacterium which is difficult to be detected by routine bacterial culture. Infection in children is rare and clinical manifestations are nonspecific. If the child can receive anti-infection treatment timely, the prognosis is good.

Clinical analysis of two children with fulminant myocarditis following an influenza A infection and literature review

YAO Xiaoli, FENG Yingjun, Li Yingying，et al

Journal of Clinical Pediatrics. 2020, 38(5): 377. doi:10.3969/j.issn.1000-3606.2020.05.016

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Objective　To investigate the clinical features of fulminant myocarditis following an influenza A infection, to reduce misdiagnosis, and to improve early treatment and prognosis. Methods　The clinical data of two children with fulminant myocarditis caused by influenza A were retrospectively analyzed. Results　Both of the two cases were presented with acute onset. Patient 1 was a 14-year-old female who had seasonal flu symptoms with heart failure following myocarditis but was otherwise healthy. H3N2 influenza virus infection was detected by molecular analyses of throat and nasal swabs, serum cTnT was 29.5 ng/mL, CK-MB 20.3 ng/mL and Pro-BNP＞35000 pg/mL, with left ventricular dysfunction and ejection fractions 30%. Patient 2 was a 2 years and 10 months old male with the third degree atrioventricular block following myocarditis who had seasonal flu symptoms. H1N1 influenza virus infection was detected by molecular analyses of throat and nasal swabs, with left ventricular dysfunction and ejection fractions of 48%, cTnT 0.35 ng/ml, CK-MB 0.43 ng/ml, Pro-BNP 9740 pg/mL. He was given large doses of steroids and immunoglobulin therapy at the same time, and myocardial nutrition, anti-viral, correcting heart failure, and other comprehensive treatments were also given. He was discharged from hospital in good condition. One month later he developed clinical manifestations of cardiac insufficiency, and the whole 24 hours Holter showed the third degree atrioventricular block, then he was treated with permanent pacemaker implantation. After following-up for 6 months, he was in good condition. Conclusions Influenza A virus infection can cause myocarditis, which comprises a wide spectrum of cardiac involvement from mild myocarditis to cardiogenic shock. Fulminant myocarditis may occur during influenza A virus infection in young individuals, even those with no known predisposing factors. Physicians need to be aware that fulminant myocarditis can be a fatal complication of influenza virus infection in all patients with instable hemodynamics. Early diagnosis and treatment could reduce, in some cases, the risk of severe cardiac events.

Clinical analysis of ten patients with Takayasu arteritis in children

QIU Lingzhi, GUO Yihong, MA Huihui, et al

Journal of Clinical Pediatrics. 2020, 38(5): 381. doi:10.3969/j.issn.1000-3606.2020.05.017

Abstract ( 446 )

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Objective　To investigate the clinical features, treatment response and prognosis in patients with Takayasu arteritis in children. Methods　Ten pediatric patients with Takayasu arteritis admitted into our hospital from 2014 to 2019 were retrospectively evaluated in clinical features, laboratory testing, imaging examinations, treatment response and prognosis of the disease. Results　There were five boys and five girls in ten patients with Takayasu arteritis. The onset age was from three months to 14.9 years old. Hypertension was the most common finding on first presentation (80%), followed by blood pressure discrepancy (70%), vascular bruits (60%), fever (60%), acrotism or pulseless (50%), claudication (40%), headache (30%) and stomachache (30%). The active indices of inflammation were increased. It showed increased ESR in 9 cases, increased CRP in 8 cases and increased WBC in 7 cases. The distribution of angiographic finding was as follows: six cases with type V three cases with type III and one case with type I. Nine patients were treated with steroids and/or immunosuppressive agents and one patient was treated with biological agent. Two cases died, two cases were lost to follow-up, and two cases showed no improvement and the other four cases were improved. Conclusion　Takayasu arteritis is a rare and potentially life-threatening disease in children, patients with sustained high levels of acute-phase reactants, including ESR and CRP, should be given comprehensive examination, especially those with hypertension, pulseless and vascular bruits. Angiography also should be done to confirm the diagnose of Takayasu arteritis.

Retrospective analysis of the characteristics of painless colonoscopy in 473 children

ZHANG Shuanghong, LI Lilong, LIAO Yuping, et al

Journal of Clinical Pediatrics. 2020, 38(5): 386. doi:10.3969/j.issn.1000-3606.2020.05.018

Abstract ( 270 )

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　Objective To evaluate the safety and clinical value of painless colonoscopy in children and the feasibility of colonoscopic polypectomy. Methods　We retrospectively analyzed the results of 473 cases of painless colonoscopy in Jiangxi provincial Children's Hospital, from July 2017 to July 2019. The patients were divided into four groups as infancy (<3 years), preschool-age (3-6 years), school-age (6 -11 years) and adolescence (12-16 years). The safety of painless colonoscopy, the caecal intubation rate, the detection of intestinal lesions and the feasibility of colonoscopic polypectomy were analyzed. Results　The 473 patients had accepted painless colonoscopy for 487 times, including 59 infancy cases, 247 preschool-age cases, 121 schoolage cases and 46 adolescence cases. The colonoscopy records showed that 313 cases were detected to have intestinal lesions including intestinal polyp (n = 259), chronic colitis (n = 32), Crohn’s disease (n = 7), and ulcerative colitis (n = 3). There were significant differences in the overall ratios of polyps, chronic colitis, Crohn's disease and ulcerative colitis in children among different age groups (χ2 = 44.094, P <0.001). The peak age of polyps was in preschool-age, chronic colitis and Crohn's disease occurred mostly in school-age and adolescence, and ulcerative colitis was more common in adolescence. The caecal intubation rate was 85.6% (417/487). There were no serious complications such as respiratory arrest or sudden cardiac arrest during the operation, and two cases had post-anesthetic shivering after operation. With high frequency electrosurgical coagulation, 259 cases of intestinal polyps were treated with painless colonoscopic polypectomy, three cases had intraoperative intestinal bleeding, 2 cases had postoperative intestinal bleeding, and two cases had perforation after operation. Conclusion　Painless colonoscopy in children is a safe and effective method for the diagnosis of lower gastrointestinal diseases. Distribution of lower gastrointestinal diseases is different in children among different age groups. The high frequency electrosurgical coagulation resection under painless colonoscopy is a feasible treatment for intestinal polyps in children.

Clinical analysis of a case of serosal type of eosinophilic gastroenteritis and review of literature

WANG Hongli, GENG Lanlan, GONG Sitang, et al

Journal of Clinical Pediatrics. 2020, 38(5): 390. doi:10.3969/j.issn.1000-3606.2020.05.019

Abstract ( 412 )

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　Objective　To explore the clinical characteristics, diagnosis, treatment and prognosis of serous eosinophilic gastroenteritis (EGE) in children, and to improve diagnosis and therapy of it. Methods　The data of clinical manifestation, laboratory examination, endoscopy, biopsy, management and prognosis from one boy with serous type of EGE were retrospectively analyzed. The Chinese databases and PubMed databases were searched for serous type of EGE in the last ten years for literature review. Results　A 16-years-old boy with serosal type of EGE show nonspecific gastrointestinal symptoms such as abdominal pain and abdominal distension. EOS counts in peripheral blood and bone marrow were significantly increased. A large number of EOS were found in his ascites. A large number of EOS can be seen in the serous layer of the intestine from laparoscopic sampling. This boy needs long-term and low dose hormone maintenance. There are 16 articles about serous disease type of EGE found in the domestic and foreign databases. Ascites is the most commonly seen symptom for serous type of EGE. Hormone therapy is sensitive, and the clinical symptoms reappear easily along with the hormone reduction or withdrawal. Some children need longterm maintenance of low dose glucocorticoid. Conclusions　Ascites is the most commonly seen symptom for serous type of EGE. Increased EOS in serosal tissue is the key for pathological diagnosis. Hormone therapy is sensitive, and the clinical symptoms reappear easily along with hormone reduction or withdrawal. Some children need long-term maintenance of low dose glucocorticoid.

Interpretation of the 2018 ESPGHAN Porto inflammatory bowel disease group guidance on endoscopy in inflammatory bowel disease in children

ZHAO Xixi, LI Zhongyue

Journal of Clinical Pediatrics. 2020, 38(5): 395. doi:10.3969/j.issn.1000-3606.2020.05.020

Abstract ( 270 )

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Journal of Clinical Pediatrics. 2020, 38(5): 399.

Abstract ( 230 )

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