OBJECTIVE:To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD). METHODS:The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS:The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION:The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.

目的:探讨Menkes病的临床特征、影像学表现及基因突变特点.方法:分析7例2016年至2021年因"发育落后、癫痫发作"就诊于郑州大学附属儿童医院,经血清铜蓝蛋白测定、头颅磁共振成像、基因检测确诊为Menkes病的男童.结果:7例患儿于2～6月龄起病,智力运动落后,头发稀疏卷曲,皮肤白,肌张力低下,面容异常,5例伴有抽搐.2例患儿喂养困难,瘫软无力,合并骨折及佝偻病改变.7例患儿血清铜蓝蛋白明显降低,红细胞及血红蛋白降低,血乳酸升高.头颅MRA可见特异性的血管走形迂曲,并存在分支稀疏,头颅MRI示硬膜下积液、脑白质髓鞘发育落后、颅内出血、基底节区及胼胝体异常信号、脑萎缩外,尚有皮层软化坏死、含铁血黄素沉积等.2例患儿自发骨折,1例患儿有明显的佝偻病样骨病.7例患儿均检出A1TP7A基因突变,其中5个为未报道的新突变.结论:本研究7例患儿经临床、生化、影像及基因检查确诊为Menkes病,发现ATP7A基因5个新的突变,指导患者家族的遗传咨询和产前诊断,丰富了Menkes病致病基因突变谱.在国内首次报道了Menkes合并骨折的病例.

Objective:To analyze the predictive value of serum Nesfatin-1 combined with the Status Epilepticus Severity Scale (STESS) score on the short-term prognosis of children with status epilepticus (SE).Methods:A clinical data of 145 children with SE who were admitted to the Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, from January 2016 to January 2020 were analyzed retrospectively.After admission, the serum levels of Nesfatin-1 and the STESS score were measured.According to the Glasgow Outcome Scale (GOS) score at discharge, children with SE were divided into poor prognosis group (<5 scores) and good prognosis group (5 scores). Univariate and multivariate Logisitc regression analyses were performed to analyze influence of the serum Nesfatin-1 level and STESS score on the short-term prognosis of children with SE.Receiver operating characteristic (ROC) curve was depicted to evaluate the predictive value of serum Nesfatin-1 level combined with STESS score in the short-term prognosis of children with SE. Results:Twenty-five cases out of 145 (17.24%) children with SE were discharged with a GOS score of <5 (poor prognosis group), 120 cases were in the good prognosis group.In the poor prognosis group, the overall attack (88.00% vs.66.67%), attack time of SE > 1 h (76.00% vs.27.50%), admission to child intensive care unit(PICU) (76.00% vs.37.50%), implementation of endotracheal intubation (16.00% vs.5.00%), abnormal electroencephalogram(EEG) results (73.91% vs.41.03%), abnormal proportion of head imaging results (82.61% vs.29.49%), serum Nesfatin-1 level[(3.65±1.45) μg/L vs.(2.20±0.77) μg/L] and STESS score[(3.01±0.75) points vs.(1.80±0.60) points] were significantly higher than those in the good prognosis group (all P<0.05). Logistic regression analysis showed that the attack time of SE > 1 h, admission to PICU, abnormal EEG, abnormal proportion of head imaging results, serum Nesfatin-1 level and STESS score were independent risk factors for the poor short-term prognosis of children with SE ( OR=4.217, 3.456, 2.626, 4.109, 3.040 and 2.012, respectively, all P<0.001). The cut-off value of serum Nesfatin-1 level and STESS score was 3.01 μg/L and 2.38 points, respectively.The Youden index and AUC of the combination of serum Nesfatin-1 level and STESS scores were 0.736 and 0.921 (95% CI: 0.861-0.959), respectively, which were better than those of single detection of either serum Nesfatin-1 level [Youden index 0.447; AUC 0.795(95% CI: 0.720-0.858)] or STESS scores [Youden index 0.562; AUC 0.859(95% CI: 0.792-0.911)]. Conclusions:The abnormal increases in serum Nesfatin-1 level and STESS score are risk factors for poor prognosis of SE in children, and their combination has a high predictive value for the poor short-term prognosis.

Objective:To analyze the clinical features and prognosis of acute disseminated encephalomyelitis (ADEM) in children.Methods:The clinical features, auxiliary examination results, treatment plans and prognosis of 23 children with ADEM treated in Zhengzhou Children’s Hospital from January 2016 to June 2021 were analyzed retrospectively.Results:The main clinical symptoms of 23 ADEM children were fever, convulsion, limb movement disorder, headache, dizziness, lethargy, convulsion, disturbance of consciousness, ataxia, fatigue and dysphagia, the main signs of nervous system in children were muscle decline, cranial nerve injury, positive pathological reflex, hyperreflexia, decreased muscle strength, ankle clonus, meningeal irritation, etc. Nine cases (39.13%) were positive for myelin oligodendrocyte glycoprotein (MOG) antibody of laboratory. MRI findings of 23 children showed abnormalities. The lesions were mainly distributed in white matter layer of brain, and some children involved deep gray matter. Nineteen cases were treated with immunoglobulin and glucocorticoid, and 4 cases were only treated with glucocorticod. Six cases reached the clinical cure standard, and 13 cases improved obviously, one severe child died of respiratory failure, and 3 cases had sequela after treatment.Conclusions:There is no unified diagnostic standard for ADEM in children, and MOG antibody detection and imaging examination are important diagnostic basis. Combined with clinical symptoms and signs of children, the diagnostic rate can be improved. For children with ADEM, clinicians should make early diagnosis and early treatment in order to improve the prognosis of children.

目的 探讨心悦胶囊联合比索洛尔治疗冠心病心绞痛的疗效及其对血液流变学的影响.方法 选取2019年3月-2020年3月在安阳市第六人民医院就诊的100例冠心病心绞痛患者作为研究对象,按照治疗方法将患者分为对照组和观察组,每组各50例.对照组患者口服富马酸比索洛尔片,5 mg/次,1次/d.观察组在对照组的基础上口服心悦胶囊,0.6 g/次,3次/d.两组均连续治疗1个月.观察两组患者的临床疗效,比较两组患者心绞痛症状(发作频率、持续时间)、视觉模拟评分(VAS);检测两组治疗前后的纤维蛋白原、全血黏度、D-二聚体水平及左室射血分数(LVEF)、心输出量(CO).记录药物相关不良反应的情况.结果 治疗后,观察组患者总有效率为94.00％,显著高于对照组的80.00％,组间比较差异有统计学意义(P＜0.05).治疗后,两组的发作频率、持续时间和VAS评分均显著降低(P＜0.05);观察组的发作频率、持续时间及VAS评分均低于对照组,差异有统计学意义(P＜0.05).治疗后,两组的LVEF、CO均明显升高(P＜0.05);且观察组升高更明显(P＜0.05).治疗后,两组的纤维蛋白原、全血黏度、D-二聚体均明显降低(P＜0.05);治疗后,观察组的纤维蛋白原、全血黏度、D-二聚体均低于对照组,差异有统计学意义(P＜0.05).两组的药物不良反应的发生率无明显差异.结论 心悦胶囊联合比索洛尔治疗冠心病心绞痛的疗效确切,能有效减轻症状和疼痛程度,改善血液流变学和心功能,且安全性较好.

Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

目的:探讨认知行为疗法联合奥卡西平对癫痫患儿认知功能及血清脑源性神经营养因子(BDNF)、同型半胱氨酸(Hcy)、胰岛素样生长因子1(IGF-1)水平的影响.方法:选取2018年1月～2020年1月本院神经内科病房129例学龄期儿童作为研究对象(其中9例脱落),根据家长及患儿意愿分为奥卡西平组(n=54例)和联合组(n=66例).比较两组认知功能、BDNF、Hcy、IGF-1水平、脑电图相关指标、癫痫发作减少率及不良反应.结果:干预3个月后,两组定向力、语言能力、注意力及计算力、记忆力、回忆力得分以及MMSE总分均得到提升,且联合组得分高于奥卡西平组(P<0.05);两组血清BDNF、Hcy、IGF-1水平均得到改善,且联合组血清BDNF、IGF-1水平高于奥卡西平组、血清Hcy水平低于奥卡西平组(P<0.05);两组α、θ波与干预前比较有统计学差异,且联合组α波高于奥卡西平组(P<0.05);联合组癫痫发作减少率(89.28％)高于奥卡西平组(80.44％),头晕、视物模糊、皮疹、共济失调、低血钠等不良反应总发生率低于奥卡西平组(P<0.05).结论:认知行为疗法联合奥卡西平能有效提高癫痫患儿认知功能,改善血清BDNF、Hcy、IGF-1水平,且对脑电图背景波影响较小,安全性较高.

目的 探讨儿童癫痫持续状态(SE)的临床特点和预后影响因素.方法 回顾性分析河南省儿童医院2014年8月至2018年7月收治的70例SE患儿临床资料,根据其随访1个月预后情况分为预后良好组与预后不良组,分析其预后影响因素.结果 本研究纳入的70例SE患儿中60.00％为小于或等于5岁,67.14％病因为症状性,61.43％由于感染所诱发,85.71％为惊厥性癫痫持续状态;对患儿进行随访,其中预后良好51例(72.86％),预后不良19例(27.14％).两组患儿性别、诱因、既往惊厥病史、癫痫发作类型、外周血白细胞计数(WBC)比较差异无统计学意义(P>0.05),年龄、影像学检查、惊厥持续时间、用药至发作停止时间、C反应蛋白水平、血糖水平比较差异有统计学意义(P<0.05);logistic回归分析显示年龄、影像学检查、惊厥持续时间、用药至发作停止时间、C反应蛋白水平、血糖水平是影响SE患儿预后的独立危险因素.结论 年龄、影像学检查异常、惊厥时间、用药至发作停止时间、C反应蛋白水平、血糖水平可影响SE患儿的预后.

目的 分析并总结结节性硬化症(Tuberous sclerosis,TSC)伴癫痫发作患儿临床及视频脑电图(VEEG)特征.方法 收集郑州儿童医院2016年1月-2019年5月收治的符合2012年修订的TSC诊断标准的30例TSC患儿的临床资料,其中伴癫痫发作患儿29例.对其皮肤病变、影像学、癫痫发作及长程VEEG特征进行回顾性分析.结果 30例患儿,平均年龄(2.88±2.64)岁,男12例,女18例,其中1例腰酸为首发症状,29例以癫痫为首发症状,癫痫发生率较高,且起病年龄多在1岁以内;TSC可对认知造成不同程度的影响;色素脱失或牛奶咖啡斑是低龄儿童最常见的皮肤改变;TSC伴婴儿痉挛症发生率高;＜10岁儿童除神经系统病变外可伴有其他器官的病变(1例),但其他器官病变发生率相对较低.TSC伴癫痫发作患儿大多伴EEG异常放电.结论 TSC伴癫痫发作临床特点具有多样性,早期诊断是关键.

目的:观察癫痫所致心境障碍患儿的临床症状,并分析其影响因素.方法:回顾性分析癫痫患儿130例,采用简明精神病量表评价癫痫患儿精神状况,并分析癫痫患儿发生心境障碍的影响因素.结果:130例癫痫患儿心境障碍发生率为82.31％,其中思维障碍26例(20.00％),抑郁发作10例(7.69％),人格改变26例(20.00％),躁狂发作10例(7.69％),存在幻觉、妄想症状35例(26.92％);多因素Logistic回归分析显示癫痫发作类型、发作频率、药物使用种类数、家庭氛围和家庭教育是癫痫患儿发生心境障碍的独立影响因素.结论:癫痫性心境障碍多表现为人格改变、幻觉、妄想及思维障碍等,且癫痫病情和家庭环境对癫痫患儿心理影响较大,需加强针对性干预,帮助癫痫患儿克服心理障碍,早日恢复健康.

目的:评价头孢曲松与利福霉素联用治疗儿童化脓性脑膜炎患者的临床疗效.方法:选取2014年3月-2015年3月间收治的儿童化脓性脑膜炎患者90例,将其分为观察组和对照组,每组45例;对照组患者给予头孢曲松治疗,观察组患者则给予头孢曲松与利福霉素联用治疗,比较和评价两组患者治疗后的总有效率、外周白细胞计数复常时间和外周脑脊液复常时间.结果:观察组患儿治疗后的总有效率优于对照组(P＜0.05),外周脑脊液和外周白细胞计数的复常时间优于对照组(P＜0.05).结论:采用头孢曲松与利福霉素治疗化脓性脑膜炎患儿,临床效果极为理想,安全性高.

目的 探讨小儿难治性化脓性脑膜炎的致病因素,分析该病临床合理诊治方法.方法 选取该院2014年1月至2016年7月收治的42例确诊为难治性化脓性脑膜炎的住院患儿,对该病的致病因素、临床特点及治疗情况进行回顾性分析.结果 该组患儿临床表现为起病急骤的剧烈头痛、呕吐、高热及抽搐等神经系统症状.所有患儿均行微生物检查,其中血培养阳性18例,阳性率为42.86%;脑脊液培养阳性15例,阳性率为35.71%;血和脑脊液培养均为阳性者9例,占21.43%.病原菌以大肠埃希菌居首(33.33%,14/42),其次为表皮葡萄球菌(21.43%,9/42),血和脑脊液培养同时阳性的病原菌也以大肠埃希菌为主,分别占14.28%和9.52%.经联合应用氯霉素+青霉素治疗并加用糖皮质激素后,36例患儿临床治愈,占85.71%,继发性梗阻性脑积水4例,无效2例.结论 小儿难治性化脓性脑膜炎致病菌复杂多样,常规治疗疗效差、易复发.合理调整抗生素,必要时加用糖皮质激素治疗可提高难治性化脓性脑膜炎的疗效,改善患儿预后.

目的：探讨髓鞘碱性蛋白（ MBP）及髓鞘蛋白P2在儿童格林－巴利综合征中的临床意义。方法收集2014年1月至2015年6月于郑州市儿童医院神经内科住院符合格林－巴利综合征诊断的患儿30例，患儿血清行MBP及髓鞘蛋白P2检测，与正常健康体检患儿30例进行对照。部分患儿分别于病程第1～3天及第4～7天采集2份血清进行上述指标检测并比较。结果研究组患者血清 MBP[（3397.82±2112.39）ng／L]、髓鞘蛋白P2[（1688.88±899.32）ng／L]明显高于对照组[（669.46±140.04）ng／L、（367.64±106.26）ng／L]，差异有统计学意义（P＜0.05）；病程第4～7天血清MBP[（4729.92±992.51）ng／L]、髓鞘蛋白P2[（2255.38±512.21）ng／L]浓度高于病程第1～3天[（1040.31±155.24）ng／L、（687.83±153.54）ng／L]，差异有统计学意义（ P＜0.05）。结论 MBP及髓鞘蛋白P2与神经脱髓鞘密切相关。同时反映了神经损伤后髓鞘的崩解是一个渐进的过程，病情越重，血清中MBP、髓鞘蛋白P2浓度越高，有助于判断病情及预后。

目的:分析评价脑电图检测对昏迷患儿的临床预后判断.方法:对73例昏迷患儿进行研究,均采用脑功能检测仪对患儿脑电波进行监测,并记录Glasgow评分,分析脑电图分级情况和Glasgow评分预测患儿预后效果.结果:对昏迷患儿实施床旁脑电图检测,患儿脑电图分级与Glasgow评分呈现负相关性(r=-0.837,P＜0.05),脑电图分级越高,Glasgow评分越低,患儿昏迷程度越严重.73例患儿中预后良好32例,41例患儿预后差.预后良好与预后差两组患儿的脑电图分级与Glasgow评分均存在统计学差异(P＜0.05).结论:对昏迷患儿实施床旁连续脑电图检测,对患儿的顸后效果评估具有指导价值.

目的 探讨格林巴利综合征患儿应用早期康复护理的临床价值.方法 选取2016年3月-2017年3月收治的格林巴利综合征患儿68例,按随机数字法分为对照组、观察组各34例,对照组进行常规护理,观察组在此基础上增加早期康复护理,观察两组护理效果.计量资料比较采用t检验,计数资料比较采用x2检验,P＜0.05为差异有统计学意义.结果 观察组临床总有效率(94.12％)高于对照组(76.47％),差异有统计学意义(P.＜0.05).护理后两组上、下肢体肌力情况及SSS评分[观察组:(4.76±0.47)、(4.68±0.71)、(10.94±3.87)分,对照组:(4.03±0.41)、(3.99±0.68)、(16.41±3.96)分],均优于护理前[观察组:(2.86±0.54)、(2.77±0.42)、(24.45±4.21)分,对照组:(2.84±0.57)、(2.74±0.46)、(25.31±4.17)分],且观察组的改善幅度高于对照组,比较差异有统计学意义(均P＜0.05).护理后心理健康、身体健康、社会功能、物质生活条件评分[观察组:(89.54±8.75)、(90.21±8.96)、(89.64±9.74)、(88.75±9.51)分,对照组:(74.48±9.42)、(76.41±10.31)、(77.15±10.18)、(78.61±9.97)分]均优于护理前[观察组:(55.41±10.57)、(54.82±10.82)、(56.81±10.48)、(52.84±11.04)分,对照组:(53.84±10.41)、(51.45±10.51)、(57.40±10.35)、(50.85±10.84)分],且观察组的改善幅度高于对照组,比较差异有统计学意义(均P＜0.05).结论 早期康复护理应用于格林巴利综合征患儿临床疗效显著,可促进神经功能恢复,提高患儿生活质量,可积极应用于护理领域中.

目的：了解儿童良性癫痫伴中央颞区棘波（benign epilepsy with centrotemporal spikes in children ，BECT）的发作期脑电图。方法利用5 a 时间收集605例 BECT 患者的临床和脑电图资料。结果30例患者出现30次癫痫发作。这些患者发作期EEG 被分为4种发作期图形。最多的一种类型为 A 型，12例出现，低电压快节律棘波，波幅逐渐增高节律逐渐变慢。 B 型，7例次，棘波混合尖波频率和波幅逐渐增高。 C 型，6例次，θ波波幅逐渐增高和频率逐渐减慢。 D 型，5例次，局部电活动减弱，继之为前3型。结论虽发作间期 BECT 脑电图相似，均呈中央颞区放电，BECT 发作期图形不是唯一不变的；发作前脑电图电抑制和发作后慢波比较常见，不影响 BECT 的诊断；发作前图形、发作中脑电图可以相互转化，不影响 BECT 的诊断。

Objective To assess language function in children with benign epilepsy with centrotemporal spikes in children(BECTS) and its association with the age of epilepsy onset.Methods We assessed language function in 63 children with BECTS and 30 age and sex matched controls by the subtest of CWISC.Results Children with BECTS performed significantly worse on all language tasks as compared to controls and overall better language function was positively correlated with older age of the child.Early age at seizure onset demonstrated significant negative correlation with language dysfunction,age below 6 years being related to the lowest performance scores(P ＜ 0.05).There was no relationship between the language function and the laterality of epileptic focus,seizure treatment status,or the duration of epilepsy(P ＞ 0.05).There was significant relationship between the language dysfunction and onset age of epilepsy (P ＜ 0.05).Conclusion Children with BECTS have language difficulties that are more pronounced in younger age group.Despite better language functioning in older children with BECTS,their verbal abilities remain inferior to those of children without epilepsy.Early age at seizure onset is a significant factor predicting worse language functioning in children with BECTS.

目的检测早期GBS患儿H反射和F波的异常率。方法对12例1周内行肌电图检查的GBS患儿进行回顾性分析,并对异常参数进行比较。结果 H反射和F波在早期儿童GBS中异常率高。结论 H反射和F波异常不是诊断GBS的标准,但H反射和F波异常率高时应高度考虑为GBS,达到及早治疗、提高预后的目的。

Objective To investigate the clinical value of serum procalcitonin(PCT)in differential diagnosis of atypical bacterial meningitis and viral encephalitis in children.Methods The children were divided into four groups:atypical bacterial meningitis group,viral encephalitis group,typical bacterial meningitis group and normal control group.The levels of PCT,CRP and WBC in serum were detected,and compared withχ2-test and one-way analysis of variance.The predictive abilities regarding atypical bacterial meningitis of PCT,CRP,and WBC were expressed as the area under the receiver operating characteristics curve(AUC-ROC).Results Atypical and typical bacterial meningitis groups were significantly different from control and viral encephalitis groups in PCT levels(P<0.05).There was no significant difference in PCT levels between viral encephalitis group and control group(P>0.05).The area under ROC for PCT diagnosis of atypical bacterial meningitis was 0.939,which was greater than WBC and CRP.Conclusion In atypical bacterial meningitis,PCT levels increase.Serum PCT levels have some clinical value in identifying atypical bacterial meningitis and its evolution.