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06 January 2020, Volume 35 Issue 1 Previous Issue    Next Issue

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Advice on treatment course and lumbar puncture in children with central nervous infection（Ⅰ）-advice on treatment course and lumbar puncture for viral meningitis The Subspecialty Group of Neurology，the Society of Pediatrics，Chinese Medical Association 2020, 35(1): 1-4.  DOI: 10.19538/j.ek2020010601 Abstract ( )

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Advice on treatment course and lumbar puncture in children with central nervous infection（Ⅱ）-advice on treatment course and lumbar puncture for bacterial meningitis The Subspecialty Group of Neurology，the Society of Pediatrics，Chinese Medical Association 2020, 35(1): 4-6.  DOI: 10.19538/j.ek2020010602 Abstract ( )

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Advice on treatment course and lumbar puncture in children with central nervous infection（Ⅲ）-advice on treatment course and lumbar puncture for tuberculous meningitis The Subspecialty Group of Neurology，the Society of Pediatrics，Chinese Medical Association 2020, 35(1): 7-9.  DOI: 10.19538/j.ek2020010603 Abstract ( )

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Advice on treatment course and lumbar puncture in children with central nervous infection（Ⅳ）-advice on treatment course and lumbar puncture for mycoplasma meningitis The Subspecialty Group of Neurology，the Society of Pediatrics，Chinese Medical Association 2020, 35(1): 9-12.  DOI: 10.19538/j.ek2020010604 Abstract ( )

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Advice on treatment course and lumbar puncture in children with central nervous infection（Ⅴ）-advice on treatment course and lumbar puncture for fungal meningitis The Subspecialty Group of Neurology，the Society of Pediatrics，Chinese Medical Association 2020, 35(1): 12-15.  DOI: 10.19538/j.ek2020010605 Abstract ( )

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Clinical and genetic characteristics hyperekplexia：A report of 6 cases LI Hui，TANG Ze-zhong，XUE Jiao，et al 2020, 35(1): 16-20.  DOI: 10.19538/j.ek2020010606 Abstract ( )   Objective　To analyze the clinical and genetic characteristics of 6 patients with hyperekplexia. Methods　Six patients were diagnosed with hyperekplexia in Peking University First Hospital between June 2011 to May 2018. The clinical presentations，course of treatment，electroencephalogram（EEG），cranial magnetic resonance imaging（MRI） and genetic results were analyzed. Results　Of the 6 patients，5 were male，and one was female. All the patients presented exaggerated startle reflexes and generalized stiffness in response to unexpected auditory or tactile stimuli in the early neonatal period. Three patients had a transient asphyxia attack，and one had a traumatic fall after exaggerated startle. All the patients showed positive nose-tapping reflex，and four presented inguinal and/or umbilical hernias. EEG showed one was normal and there were atypical discharges or transient abnormality in 5. No obvious abnormalities were found in 4 patients who had undergone cranial MRI. Genetic analysis was performed in all 6 patients：three had heterozygous mutation of GLRA1 gene，two had complex heterozygous mutation of GLRB gene，and one had no gene mutation by whole exon sequencing. All the patients received the treatment of clonazepam. The symptoms of hyperekplexia were completely controlled in one，and only occasional exaggerated startle reflexes existed in 5. All had normal intellectual development，and two patients walked with a similar gait of wide base. One had a clear family history of asphyxia death with the same clinical symptoms. Conclusion　All patients with hyperekplexia have typical clinical manifestations and positive nose-tapping reflex. The diagnosis can be made through genetic diagnosis. All the patients have a good response to clonazepam. After early diagnosis through clinical diagnosis and genetic analysis，timely and appropriate treatment are crucial for improving the prognosis of this disease.

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Clinical features of posterior reversible encephalopathy syndrome in children with kidney diseases：A report of 4 cases YU Xiao-ning，CHEN Chao-ying 2020, 35(1): 21-25.  DOI: 10.19538/j.ek2020010607 Abstract ( )   Objective　To improve recognition of the clinical manifestation，imaging features and managements of posterior reversible encephalopathy syndrome（PRES）in children with kidney diseases. Methods　Four children with kidney diseases complicating PRES admitted to our hospital from July 2010 to June 2018 were included. Clinical data and imaging results were retrospectively studied and related literatures were reviewed. Results　The primary diseases of the 4 patients were acute post-streptococcal glomerulonephritis（1 case），nephritic syndrome（2 cases）and atypical hemolytic uremic syndrome（aHUS，1 case） respectively. Before onset there was history of poor control of hypertension or using cytotoxic drugs，and the primary symptom was seizures. They all developed an acute onset of headache，dizziness，visual changes and hypertension. Cranial MRI showed bilateral parietal，and occipital cortical or subcortical lesions with hypointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging，which was symmetrical or asymmetrical and might involve lateral ventricle，cerebel and brainstem in serious conditions. Clinical symptoms resolved soon and radiographic recovery occurred within 2 to 3 weeks with prompt anti-hypertension treatment and supportive care. Conclusion　The vasogenic cerebral edema caused by acute elevated blood pressure and drugs seems to be the most important mechanism of PRES. Characteristic imaging features are very useful for diagnosis. Prompt antihypertension treatment and symptomatic treatment usually can reverse the PRES lesion soon. In the treatment，hypertension should be controlled，and the cytotoxic drugs inducing PRES should be withdrawn or reduced in dosage.

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Clinical characteristics of NLRP12-related auto-inflammatory diseases in children LIANG Fang-fang*，PENG Cheng，HE Ting-yan，et al 2020, 35(1): 26-30.  DOI: 10.19538/j.ek2020010608 Abstract ( )   Objective　To investigate the clinical manifestations，immunological features，genotypes，diagnosis，treatment and prognosis of NLRP12-autoinflammatory disease（NLRP12-AD） in children. Methods　The clinical characteristics of 1 case of NLRP12-AD patient admitted in 2016 in Shenzhen Children’s Hospital were analyzed retrospectively，and using NLRP12-AD as the search term，we searched PubMed，CNKI，Chongqing Weipu and Wanfang database from January 2008 to January 2019 to summarize the clinical data and genetic variation characteristics of NLRP12-AD patients with the onset in childhood. Results　By literature review of NLRP12-AD，34 cases of NLRP12-AD were included. The clinical characteristics were summarized as follows：the children of all ages might suffer from this disease，without gender difference.There can be no positive family history. Fever was the first symptom in almost all cases，and nearly half of them were induced by cold （44%）. The common symptoms included periodic fever（100%），myalgia（53%），rash（38%），arthritis（35%），and abdominal pain/diarrhea（50%）. Some patients had headache，oral ulcers，lymphadenopathy，and hepatosplenomegaly，etc.. During disease attack，half patients would show increased acute phase reactions，including ESR and CRP，and the levels of IL-1，IL-6 and IL-18 increased，especially IL-6. Hormones and antihistamines were effective in most patients，but hormones alone were ineffective in 5 severe cases，and combined use of new biological agents such as tropizumab was effective. Conclusion　The clinical phenotypes of NLRP12-AD in children are diverse and the disease is easily misdiagnosed as SoJIA or infectious diseases. If early diagnosis and treatment can be made，the prognosis of most patients is good.

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Clinical features of five children with Hashimoto encephalopathy MA Jian-nan，HONG Si-qi，LI Xiu-juan，et al 2020, 35(1): 31-34.  DOI: 10.19538/j.ek2020010609 Abstract ( )   Objective　To characterize the clinical，laboratory and imaging features and outcomes of Hashimoto encephalopathy in children and to potentially improve recognition and timely treatment of this disease. Methods　The clinical data of five children with Hashimoto encephalopathy，including clinical characteristics，laboratory and imaging findings，treatment and prognosis，were analyzed retrospectively. Results　Of the five patients，two were boys，three were girls. Age at diagnosis was 10.5-14.3 years. The main clinical symptoms were psychiatric abnormality（4/5），cognitive impairment（4/5），seizures（4/5），abnormal movements（2/5），and insomnia（2/5）. In five patients，anti-thyroglobulin and anti-thyroid peroxidase antibodies were obviously increased；electroencephalogram showed generalized slowing；brain magnetic resonance imagings showed no abnormalities；detection of autoimmune encephalitis antibodies of the blood and cerebrospinal fluid was negative；proteins in the cerebrospinal fluid were slightly increased in 3 children. Five patients were improved after corticosteroid treatment. Conclusion　Hashimoto encephalopathy is rare in children，and its clinical characteristics are mainly psychiatric symptoms，cognitive impairment，seizures and increased anti-thyroglobulin and anti-thyroid peroxidase antibodies. The effect of early corticosteroid treatment is remarkable and the prognosis is good.

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Clinical and genetic characteristics of three patients with Dubin-Johnson syndrome：A report of 3 cases YANG Feng-xia， TAN Li-mei， YE Jia-wei， et al 2020, 35(1): 35-38.  DOI: 10.19538/j.ek2020010610 Abstract ( )   Objective　To summarize and analyze the clinical features and laboratory tests of 3 confirmed cases and review relevant literature to improve the understanding of this type of hereditary diseases，reduce misdiagnosis. Methods　The clinical characteristics and laboratory examinations of 3 children diagnosed with Dubin-Johnson（DJS） syndrome between October 2012 and October 2017 in Guangzhou Women and Children’s Medical Center were analyzed. The whole-genome medical exon sequencing was carried out using Agilent exon chip capture + high-throughput sequencing. The literature was reviewed. Results　All the three children were male. The onset was in infancy，the general condition was good，and the growth and development were normal. The liver function of the three cases all indicated that the total bilirubin was elevated with the direct bilirubin being the main，and the other enzymatic indicators were all normal. One of them had Bartter syndrome at the same time，which showed repeated hypokalemia and weakness. Five genetic mutations were found in ABCC2 by genetic testing which had not been reported. Conclusion　The clinical manifestations of DJS are mild and non-specific，and the diagnosis is difficult due to the lack of serological markers. Blood genetic testing can be accurately diagnose from the genetic level，and it can be analyzed and verified by the family. The newly discovered mutations enrich the mutation spectrum of the ABCC2 gene.

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Wolf-Hirschhorn syndrome：A report of 4 cases and literature review LU Fen，ZHU Min，ZHANG Yue，et al 2020, 35(1): 39-43.  DOI: 10.19538/j.ek2020010611 Abstract ( )   Objective　To investigate the clinical features and gene mutation of Wolf-Hirschhorn syndrome. Methods　Clinical data of four children with with development delay and mental retardation were retrospectively analyzed，who were considered to be with WHS，and chromosomal microarray analysis was used to detect genetic change. Relevant literatures were reviewed. Results　Four children were admitted because of unusual facies（Greek warrior helmet appearance），mental retardation，delayed psychomotor development，hypotonia and epilepsy； 2.24 Mb-3.8 Mb deletion in chromosome 4p16.3 was identified，which confirmed the diagnosis of Wolf-Hirschhorn syndrome. There was no special treatment，just antiepileptic drug and rehabilitation，and regular follow-up was made. Conclusion　Improving chromosomal microarray analysis（CMA） as soon as possible can not only help early diagnosis of Wolf-Hirschhorn syndrome，but also determine the prognosis. Compared with conventional karyotyping analysis，CMA has greater resolution and accuracy，which can provide useful information for genetic counseling.

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Analysis of the change in ELP4 gene of benign epilepsy with centro-temporal spikes in children HAN Xiang-yu，Yeshwaree Rajcoomar-Chummun，ZHU Jin-ling，et al 2020, 35(1): 44-46.  DOI: 10.19538/j.ek2020010612 Abstract ( )

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Characteristics of the epilepsy classification by International League of Against Epilepsy and their interpretation LIANG Jin-ping 2020, 35(1): 47-54.  DOI: 10.19538/j.ek2020010613 Abstract ( )

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Research progress in the pathogenic gene and clinical phenotype of epilepsy with myoclonic atonic seizures WANG Hui-fang，SUN Mei-zhen 2020, 35(1): 55-60.  DOI: 10.19538/j.ek2020010614 Abstract ( )

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Intestinal microbiome and non-alcoholic fatty liver disease in children LI Jing，WU Jie 2020, 35(1): 61-65.  DOI: 10.19538/j.ek2020010615 Abstract ( )

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Etiology of tic disorder in children and the treatment progress ZHAI Qian，FENG Lei，ZHANG Guo-fu 2020, 35(1): 66-72.  DOI: 10.19538/j.ek2020010616 Abstract ( )

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One case of peripheral neuropathy complicated with immobilization hypercalcaemia and the literature review ZHANG Yu，ZHANG Hong-wen，CHANG Xing-zhi 2020, 35(1): 73-75.  DOI: 10.19538/j.ek2020010617 Abstract ( )

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One case of blue rubber bleb nevus syndrome in children with multiple intestinal lesions diagnosed by capsule endoscopy LI Zhan-hua，XIONG Jing-jing，TIAN Yuan-yuan，et al 2020, 35(1): 76-78.  DOI: 10.19538/j.ek2020010618 Abstract ( )

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Report of one case of Ménétrier’s disease in children and the literature review FANG Rui，WANG Yan，XIANG Yun，et al 2020, 35(1): 79-80.  DOI: 10.19538/j.ek2020010619 Abstract ( )