The clinical data of a child with paroxysmal kinesigenic dyskinesia (PKD) and being diagnosed and treated in the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in October 2018 were analyzed retrospectively.The male patient was 13 years old.The clinical manifestation was the change of body position, and the temporary movement cannot appear.The manifestations included the turning of head to one side, the falling back of neck, head shaking, swinging, the tightly hugging of hands in front of the chest, the touching of two tiptoes to the ground, numb sole, and ache.Gene detection: chromosome 16p11.2 (chr16: 29594293-30189789) had about 595.5 kb heterozygosity deletion.A total of 8 cases of 16p11.2 microdeletion in children with PKD were reported in details.16p11.2 microdeletion is another form of gene expression that causes PKD.16p11.2 microdeletion should be screened for genetic evaluation in patients with PKD.

Objective To analyze the clinical characteristics and risk factors for post-traumatic seizures (PTS) in children,so as to provide a theoretical evidence for clinicians to prevent PTS.Methods From January 2010 to November 2016,the clinical data and auxiliary examination of 388 post-traumatic patients hospitalized at the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively.According to the presence of epileptic seizure,these patients were divided into PTS group and non post-traumatic seizures (nPTS)group.The risk factors associated PTS were investigated by univariate analysis.Results Among the 388 post-traumatic children,72 cases had seizures,which occurred almost predominantly less than 1 year.Fifty-six point nine percent (41/72 cases) were immediately PTS,and 31.9％ (23/72 cases) were early PTS,and 11.1％ (8/72 cases) were late PTS.Among the seizures types,generalized seizures accounted for 51.4％ (37/72 cases),and tonic-clonic seizures were in common;focal seizures accounted for 36.1％ (26/72 cases);focal combined generalized seizures accounted for 2.8％ (2/72 cases),and the remaining 9.7％ (7/72 cases) were ominous.Electroencephalogram showed the slow wave and spike wave most common.There were significant differences in factors statistically,included age,Glasgow Coma Scale (GCS) score,the severity of traumatic brain injury,cerebral contusion,subdural hematoma,therapy method between the patients with seizures group and the patients without seizures group (Z =4.717,x2 =13.079,17.852,5.664,17.457,5.496,all P ＜ 0.05).In single factor analysis and multi-factor regression analysis,age,GCS score,the severity of traumatic brain injury,subdural hematoma,therapy method were associated with the incidence of PTS (all P ＜ 0.05).Conclusions PTS is a severe complication of brain trauma in children.Small age,GCS ≤8 scores,severe brain injury,subdural hematoma,surgery are the risk factors of PTS.

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM). METHODS: The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR. RESULTS: There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree. CONCLUSION The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
Asian Continental Ancestry Group ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide

Objective:To discuss the incidence rate and influencing factors of postencephalitic epilepsy (PE) in children with viral encephalitis at acute symptomatic seizure(ASS).Methods:The data of 132 children with ASS in the First Affiliated Hospital of Zhengzhou University from September 2013 to July 2018 were retrospectively analyzed, and the patients were divided into PE group (62 cases) and non-PE group (70 cases) according to whether they had PE at final follow-up.The risk factors of PE in children with ASS were analyzed using the multivariate Logistic regre-ssion methods. Results:The incidence of PE in children with ASS was 46.97% (62/132 cases). There were statistically significant differences in terms of psychological and behavioral abnormalities[19.4%(12/62 cases) vs.2.9%(2/70 cases)], repetitive seizures (more than 5 seizures) [67.7%(42/62 cases) vs.17.1%(12/70 cases)], status epilepticus (SE) [30.6%(19/62 cases) vs.11.4%(8/70 cases)], generalized seizures [72.6%(45/62 cases) vs.88.6%(62/70 cases)], endotracheal intubation [21.0%(13/62 cases) vs.2.9%(2/70 cases)], the duration of fever [5.5(3.0, 11.0) d vs.3.0(2.0, 6.0) d], the duration in the intensive care unit (ICU) [13(5, 21) d vs.6(3, 8) d], electroencephalography epileptiform discharges [49.1%(27/55 cases) vs.6.8%(4/59 cases)], presence of subcortical involvement on neuroimaging [37.3%(22/55 cases) vs.20.3%(14/59 cases)] in children with ASS between the PE group and the non-PE group(all P<0.05). The multivariate Logistic regression analysis showed that repetitive seizures (more than 5 seizures) ( OR=5.256, 95% CI: 1.538-17.961, P=0.008), SE( OR=6.003, 95% CI: 1.411-25.539, P=0.015), electroencephalography epileptiform discharges ( OR=36.693, 95% CI: 7.031-191.485, P<0.01) and the duration in ICU ( OR=1.170, 95% CI: 1.058-1.298, P=0.002) were the risk factors for PE in children with ASS. Conclusions:The incidence rate of PE in children with ASS is high.Children with ASS are more likely to develop into PE if they have repetitive seizures (more than 5 seizures), SE, electroencephalography epileptiform discharges, and the longer duration in ICU.

Objective:To summarize the clinical features, diagnosis and treatment of erythema multiforme caused by Mycoplasma pneumoniae infection.Methods:The data of clinical features, treatment and prognosis of children diagnosed with erythema multiforme caused by Mycoplasma pneumoniae infection and treated in the First Affiliated Hospital of Zhengzhou University from Jane 2016 to December 2019 were retrospectively analyzed, and related literature was summarized.Results:All the 3 patients suffered from fever, cutaneous and mucous membrane lesions.Cutaneous lesions were manifested as exudative erythema multiforme, and the mucous membranes involved included oral mucosa, ocular conjunctiva and genital mucosa.The symptoms in all 3 cases were alleviated after the treatment with glucocor-ticoid, high doses of gamma globulin, anti-Mycoplasma pneumoniae and symptomatic support.Two children suffered secondary infection during treatment and improved with anti-infection.Neither patients had sequelae during the follow-up.Conclusions:Mycoplasma pneumoniae can cause erythema multiforme in children, but it is always misdiagnosed due to its clinical rarity.The mechanism of erythema multiforme caused by Mycoplasma pneumoniae infection is not clear.Early administration of glucocorticoid and high doses of gamma globulin, anti-Mycoplasma pneumoniae and symptomatic support often lead to a good prognosis.