非脊髓灰质炎肠病毒感染性瘫痪28例

目的探讨非脊髓灰质炎肠病毒感染性瘫痪患儿的临床特点、远期预后、神经电生理改变。方法对确诊非脊髓灰质炎肠病毒感染性瘫痪患儿28例进行临床观察,行粪便肠道病毒培养、血清肠道病毒抗体测定,病程极期和恢复期血清肌酶测定、神经传导功能、运动神经电传导后反应测定及肌电图等检查,并作前后对照和随访。结果1.各年龄均可发病,以一侧下肢瘫痪为主。2.病毒分离均阴性。3.血清柯萨奇病毒IgM阳性28例。4.肌酶检查25例均正常(余3例未作检查)。5.神经电生理改变包括有运动神经传导速度减慢、波幅降低、失神经电位、F波出现率降低伴传导速度减慢、H-反射潜伏期延长等。结论非脊髓灰质炎肠病毒感染性瘫痪主要引起周围神经脱髓鞘损害和轴索变性。本病预后良好,但有少数复发。     

脱髓鞘疾病51例

目的分析小儿脱髓鞘疾病的临床特点,以提高对该疾病的诊断与治疗。方法对51例小儿脱髓鞘疾病的发病年龄、前驱症状、临床表现及辅助检查特点等进行回顾性分析。结果51例脱髓鞘疾病患儿中学龄期38例,有前驱感染史32例,疫苗接种史3例,大多以急性起病。周围神经脱髓鞘疾病32例以双下肢或四肢瘫痪为首发;中枢神经脱髓鞘疾病以视力障碍、肢体无力、发热、抽搐、头痛等为首发。周围神经脱髓鞘疾病患儿中15例行肌电图检查,均显示为神经源性改变;18例中枢神经脱髓鞘疾病患儿中17例行CT或MRI,均发现异常信号。结论小儿脱髓鞘疾病的临床表现复杂多变,通过病史及辅助检查,进行综合分析,不难得出诊断,预后良好。     

肠道病毒71型感染手足口病合并急性弛缓性麻痹临床分析

目的探讨肠道病毒71型感染手足口病合并急性弛缓性麻痹的临床特点。方法对10例肠道病毒71型感染手足口病合并急性弛缓性麻痹的患儿进行临床观察,并作病原学、头颅和脊髓磁共振成像、神经电生理及脑脊液检查。结果 10例中8例为2岁以下儿童,瘫痪前期均伴发热和皮疹,单侧肢体瘫痪占70%,1周左右患肢运动功能开始恢复,轻症多于1～3个月完全恢复。磁共振成像及神经电生理检查结果与临床症状具有高度一致性,提供了神经受累的定位证据。所有病例随访4～12周,7例(70%)肌力恢复至Ⅴ级。结论急性弛缓性麻痹是肠道病毒71型感染手足口病的严重并发症,磁共振成像及神经电生理检查对评估病情及预后有重要价值。     

儿童EB病毒脑炎24例临床分析

目的　分析儿童EB病毒脑炎的临床特征 ,探讨其早期诊断方法及治疗手段。方法　应用酶联免疫吸附试验(ELISA)检测脑脊液及血清中EBV外壳抗原抗体 (VCA IgM ) ,对 2 4例脑脊液EBVCA IgM阳性患儿的临床特征进行分析。结果　 2 3例为急性发病 ,1例为慢性起病。发热 2 4例 (10 0 % ) ;头痛、呕吐 10例 (42 % ) ;惊厥 10例(42 % ) ;意识障碍 16例 (6 7% ) ,其中昏迷 6例 ;惊厥 10例 ,伴精神症状 2例 ;脊髓炎 2例 ,颅神经损害 3例 ;呼吸衰竭 1例 ,合并传染性单核细胞增多症 1例。脑CT/MRI检查 :15例检查者 13例异常 ;脑脊液EBVCA IgM均阳性 ,血清VCA IgM 15例阳性。经 6个月至 1年随访 ,完全康复 2 1例 ,3例遗留后遗症 :1例左下肢活动障碍 ,2例轻度的智力低下并有癫疒间 发作。结论　EBV脑炎临床表现多样 ,多为急性起病 ,少数呈慢性活动性损害。伴有传染性单核细胞增多症表现者很少见。脑脊液EBVCA IgM阳性为主要确诊依据。大多数患儿预后良好 ,少数病情严重 ,可遗留后遗症。     

肌电图检查在儿童神经系统疾病诊断中的意义

目的探讨肌电图检查在儿童神经系统疾病诊断中的意义。方法对354例神经系统疾病患儿进行肌电图检查,包括周围神经传导速度、针极肌电图及重复频率刺激,并对结果进行分析。结果肌电图检查结果异常166例,其中肌源性损害36例,神经源性损害47例,神经性损害69例,重复频率刺激异常3例,界线性改变11例。36例肌源性损害中,确诊为进行性肌营养不良18例,多发性肌炎2例,线粒体脑肌病1例,未确诊15例。47例神经源性损害中,脊肌萎缩症29例,急性脊髓炎4例,脊髓灰质炎后遗症2例,12例诊断不明。69例神经性损害中,臂丛神经损伤23例,格林-巴利综合征9例,腓总神经损伤6例,面神经损伤4例,遗传性运动感觉神经病2例,慢性炎性脱髓鞘性多神经病、异染性脑白质营养不良各1例,23例诊断不明。3例重复频率刺激异常者均诊断为重症肌无力,其中全身型2例,眼肌型1例。界线性异常11例均未确诊。肌电图检查正常188例,其中临床诊断为重症肌无力眼肌型21例,脑性瘫痪5例,急性脊髓炎2例,多发性肌炎1例,神经系统其他疾病21例,余138例诊断不明。结论1.肌电图检查有助于进行性肌营养不良、脊髓性肌萎缩、神经损伤等疾病明确诊断;2.为侵犯下运动单位的疾病的诊断及鉴别诊断可提供重要依据;3.重症肌无力患儿重复频率刺激检查阳性率不高;4.对主要侵犯上运动神经元的疾病诊断意义不大。     

儿童脊肌萎缩症23例临床特点及遗传学分析

目的 探讨脊肌萎缩症的临床特点和遗传方式。方法 对23例脊肌萎缩症患儿的临床资料进行总结,并用Weiber先证法分析其发病的遗传规律。结果 临床特点为出生后双下肢呈对称性弛缓性瘫痪且进行性加重,四肢近端无力,肌张力、肌力低下;肌电图主要表现为神经原性损害。隐性遗传分离分析表明,12个家系23例患儿发病方式符合常染色体隐性遗传。结论 脊肌萎缩症的临床发病早且病死率高,在遗传咨询中注意作相关产前基因检查,可避免该类患儿的出生。     

脑脊液特殊改变的EB病毒性脑膜脑炎5例临床分析

EB(Epstein Barr)病毒性脑膜脑炎与其他急性病毒性脑炎一样 ,一般情况下 ,脑脊液生化改变仅表现为轻度蛋白升高 ,糖正常。而蛋白明显升高 ,糖明显降低者国内外尚未见报道 ,此种患儿极易误诊为化脓性或结核性脑膜炎而延误治疗。现将我院 2 0 0 1～ 2 0 0 3年收治的脑脊液蛋白明显升高 ,糖明显降低的 5例EB病毒性脑膜脑炎总结如下。一般资料 :男 4例 ,女 1例 ;发病年龄 1～ 2岁 2例 ,4～14岁 3例。夏季发病 3例 ,冬季发病 2例。临床诊断标准 :(1)具有脑炎或脑膜脑炎的症状及体征。 (2 )脑脊液EB病毒抗体IgM阳性或IgG抗体 4倍升高 ;外周血…     

Duchenne型进行性肌营养不良40例临床分析

目的 探讨Duchenne型进行性肌营养不良(DMD)的临床特点及肌酶、肌电图、肌肉活检的诊断价值.方法 对40例经dystrophin蛋白检测确诊的DMD患儿的临床特征及实验室检查资料进行分析.结果 40例患儿平均年龄7.2岁,平均发病年龄4.5岁,15%患儿有家族史.40例患儿均有典型的临床症状和体征,肌酶升高以肌酸磷酸激酶(CPK)升高为主,≤8岁年龄组CPK值高于＞8岁组.所有患儿肌肉活检均有肌纤维变性和坏死,12.5%的患儿尚伴炎性细胞浸润.在有肌源性损害同时,15%的患儿肌电图尚有神经源性损害.结论 血清肌酶、肌电图及肌活检是DMD重要的辅助诊断指标,对于肌电图有神经源性损害和肌活检病理检查有炎性细胞浸润者,应进行基因检测和(或)dystrophin蛋白检测.     

以大叶性肺炎为临床表现的肺炎支原体肺炎16例

目的探讨表现为大叶性肺炎的肺炎支原体(MP)肺炎诊疗方法。方法对16例大叶性肺炎为表现的MP肺炎患儿的临床特征和诊治过程进行回顾性分析。结果MP肺炎患儿16例X线均呈单侧大叶性肺炎表现,2例并少量胸腔积液,血MP-IgM均阳性,阿齐霉素单药或联合治疗3~6周,患儿均痊愈。结论典型的X线表现及血MP-IgM阳性为MP肺炎主要的诊断依据,联合用药效果更好。     

腓骨肌萎缩症1型患儿肌电图和遗传学研究

目的：探讨腓骨肌萎缩症1型（CMT1）儿童的肌电图和遗传学特点。方法：对24例CMT1型患儿进行常规肌电图检测,同时联合应用PCR-双酶切分析检测17p11.2-12上的基因重复,对照组为10名健康儿童。结果：24例患儿运动或感觉神经传导速度存在不同程度的减慢或消失,且感觉神经病变重于运动神经,下肢受累程度重于上肢。所检24例患儿72块肌肉中,40块呈神经源性损害（56%）;患儿年龄越大,肌肉受累程度越严重。24例患儿中,PCR-双酶切法在13例患儿中检测出1760 bp片段,占54%。正常对照组未检测到此片段。结论：CMT1患儿肌电图改变特征明显,以周围神经传导速度减慢为主,肌肉病变多呈神经源性损害。PCR-双酶切可作为一种简单有效的CMT1型基因诊断方法。     

��ͯ��N-�׻�-D-�춬������������15���ٴ�����

??Objective??To explore the clinical characteristics of anti-N-methyl-D-aspartate receptor??anti-NMDAR??encephalitis in children. Methods??Between April 2015 and December 2015??fifteen children were diagnosed with this disorder at the Department of Neurology??Children’s Hospital of Fudan University. We retrospectively analyzed the data of clinical characteristics and laboratory examinations. Results????1??There were seven females and eight males??the median age of onset was 7 years old??ranging from 8 months to 12 years.??2??Clinical characteristics were as follows?? 3/15??20%?? had impaired consciousness along with convulsion?? and 4/15??26.7%?? had emotional and behavioral changes at the onset of disease. Seizures occurred in all the 15 children and status epilepticus in 3 cases. Facial and limb involuntary movements occurred in 12/15??80%??. Seven cases??46.7%?? demonstrated uroschesis. Three had hypoventilation. Two??13.3%?? were secondary to virus infection.??3??Imaging and laboratory examination showed that the white blood cell of cerebrospinal fluid??CSF?? in 5/15 cases??33.3%?? were moderately elevated. The protein of cerebrospinal fluid??CSF?? was obviously increased in 2 patient??13.3%??. IgG index was detected in 10 patients and increased in 4/10??40%??. All had cerebrospinal fluid antibodies. MRI was abnormal in 10/15??66.7%??. EEG typically showed diffuse background slowing??while no extreme delta brush was observed. One case??6.7%?? had a mass in ovary. All patients received intravenous methylprednisolone and immunoglobulins??IVIG??. One case??6.7%?? received plasma exchange. Follow-ups lasted for 1 to 6 months. The functional outcomes of 9 patients were favorable??mRS being 0 to 2. Conclusion??Due to the lack of specificity of clinical symptoms and laboratory examination??this disorder is difficult to diagnose at the onset. The disease can be diagnosed by the specific anti-NMDAR antibody in the cerebrospinal fluid. Tumors and delt brush are rarely found in children with anti-NMDAR encephalitis. Early diagnosis and timely initiation of immunosuppressive treatment will result in favorable outcome in the majority of the patients.     

Hepatitis A in day care centre

A focal outbreak of hepatitis was detected in a day-care centre for children centrally located in Pune. The source of infection was suspected to be an 11-year-old child who probably got the infection from his school. Seven out of 15 children from day-care centre developed clinical hepatitis. Two cases of secondary infection were identified among the family contacts of infected children. Sera from all the nine sick children were positive for anti-hepatitis A virus-IgM antibodies. A stool sample from a case of secondary infection showed presence of HAV-RNA by RT-nested PCR. These findings proved that the outbreak was caused by hepatitis A virus.     

结节性硬化症16例临床特征和诊断

目的 评价结节性硬化症的临床特征和ＣＴ,ＭＲＩ对其诊断价值。方法 对１６例结节性硬化症患者的临床资料进行分析。结果 １６例患儿的临床特征为起病年龄３岁以内１５例,占９３％,全部患儿均以癫痫发作为首发症状,有皮肤表现者１３例,占８１％,以色素脱失斑最多见。智力低下者３例,占１９％,全部患儿均有脑ＣＴ或ＭＲＩ改变,对３例不典型病列通过脑ＣＴ检查确诊。结论 癫痫,特殊的皮肤损害为本病的主要临床特征,脑Ｃ     

以急性脑病为主要表现的儿童偏瘫型偏头痛五例临床及遗传学分析

目的总结分析以急性脑病为主要表现的偏瘫型偏头痛的临床特征、遗传学特点及诊疗,提高对该病的认识。方法回顾性分析2018年8月至2020年6月在首都医科大学附属北京儿童医院住院治疗的5例以急性脑病为主要表现的偏瘫型偏头痛患儿的临床病例及随访资料。结果 5例患儿中男3例、女2例,年龄9.7(3.9~12.7)岁,发病年龄7.0(2.1~12.7)岁。5例患儿高峰期症状均有嗜睡、昏迷等脑病表现,其他临床表现包括头痛、视觉异常、偏瘫、失语、抽搐和发热等,高峰出现时间在病程第2~6天。发病前2例有轻度头外伤,2例有既往类似病史。5例患儿头颅磁共振成像表现为半侧或部分大脑皮层肿胀及皮层下白质弥散受限,3例合并小脑萎缩。5例患儿均经对症治疗,其中2例使用小剂量糖皮质激素,均恢复到基线水平,1例头颅磁共振成像示遗留病灶区萎缩改变。5例患儿全外显子组基因测序提示均为CACNA1A基因变异,1例为新生变异,1例遗传自无先兆偏头痛的母亲。诊断明确后5例患儿均长期口服氟桂利嗪,通过电话及门诊随访22(7~29)个月,至末次随访5例患儿均未再发肢体无力或脑病表现。1例仍有间断头痛,偶有一过性右侧肢体麻木。结论偏瘫型偏头痛重度发作除表现为头痛、偏瘫、失语、视觉异常等,常伴随意识障碍。多数短期内完全恢复,极少数恢复缓慢,遗留脑萎缩、认知障碍甚至死亡。以CACNA1A基因变异为最常见。氟桂利嗪可预防复发。     

儿童病毒性脑炎合并呼吸衰竭64例诊断与治疗

目的：总结儿童病毒性脑炎合并呼吸衰竭的临床特点,为早期诊断和有效治疗提供经验。方法回顾性分析2005年5月至2015年5月天津市儿童医院神经内科病房收治的64例病毒性脑炎合并呼吸衰竭患儿的临床资料。结果所有患儿均为急性起病,以发热(60例,93．7%),抽搐(50例,78．1%),意识障碍(46例,71．8%),锥体束征阳性(30例,46．8%)等为主要临床表现,多于急性期发生呼吸衰竭。中枢性呼吸衰竭56例,中枢性呼吸衰竭合并周围性呼吸衰竭6例,呼吸循环衰竭2例。46例行腰椎穿刺术,32例异常,颅内压增高者10例,白细胞数增多19例,蛋白定量升高17例,脑脊液病原学阳性10例,其中单纯疱疹病毒8例,EB病毒1例,柯萨奇病毒1例。所有患儿行头CT检查,6例异常;34例行MRI检查,29例异常。所有患儿脑电图均不正常,48例(75%)患儿首次脑电图示全导弥漫性δ活动;22例患儿治疗期间监测伴有局灶或全导痫性/样放电。5例患儿电生理检查示颈段脊髓前角损害。24例患儿并发应激性溃疡,肝损害4例,心脏损害6例,肾损害4例,肺损害1例。所有患儿均行机械通气,带机时间2~50 d。33例(51．5%)好转出院,14例死亡,放弃治疗17例。25例患儿遗留多种神经功能障碍,14例继发性癫痫患儿于门诊随诊3个月至6年,其中8例为药物难治性癫痫。结论儿童病毒性脑炎合并呼吸衰竭患儿起病急,进展快,致残率、病死率高。早期识别,及时呼吸支持,注意保护脏器功能,有助于改善预后。     

儿童系统性红斑狼疮并发假性肠梗阻8例临床研究

目的 探讨儿童系统性红斑狼疮(SLE)并假性肠梗阻(IPO)的临床特点及诊治方法.方法 回顾性分析中国医学科学院北京协和医院2010年1 月至2018年12月收治的16岁以下8例SLE并IPO患儿的临床资料,总结其发病特点、诊治方案和预后.结果 共8例纳入研究,其中男2例,女6例,发病年龄(13.6±1.7)岁(11～...     

Acute flaccid paralysis in Australian children

OBJECTIVES: To describe the epidemiology and causes of acute flaccid paralysis (AFP) in Australian children, and the clinical features of the two most common causes of AFP, Guillain-Barré syndrome and transverse myelitis. METHODS: Monthly active surveillance for AFP was carried out through the Australian Paediatric Surveillance Unit, with AFP defined as 'acute onset of flaccid paralysis in one or more limbs or of bulbar paralysis in any child less than 15 years of age'. RESULTS: Between March 1995 and December 1999, 143 cases of AFP were reported (approximately 0.8 per 100000 children < 15 years of age per annum). The age range was 2 months-14 years and 59% were boys. Out of these children, 137 (96%) were hospitalized and 47 required intensive care. No case of wild or vaccine-associated poliomyelitis was identified. The most common causes of AFP were Guillain-Barré syndrome in 67 (47%) and transverse myelitis in 27 (19%). Other diagnoses included acute disseminated encephalomyelitis, trauma, tick-bite paralysis and infantile botulism. CONCLUSION: The participation of paediatricians in AFP surveillance contributed to the accreditation of Australia (along with the other 36 countries of the western Pacific region) as 'polio free' by the World Health Organization in October 2000. The surveillance also provided data on the frequency of AFP and identified Guillain-Barré syndrome and transverse myelitis as the most common diagnoses. In this large national series, many other conditions that may present as non-polio AFP were identified.     

儿童急性白血病合并中枢神经系统真菌感染5例并文献复习

目的通过5例儿童急性白血病合并中枢神经系统(CNS)真菌感染的临床总结及相关文献复习,提高对本病的认识。方法回顾性分析北京儿童医院收治的5例急性白血病合并CNS真菌感染患儿的临床特点及诊治经过并文献复习。结果(1)4例急性淋巴细胞白血病(ALL)患儿均接受强化疗,1例为急性非淋巴细胞白血病(AML-M2)半相合造血干细胞移植术后,发生CNS真菌感染前均有肺部真菌感染病史,其中2例合并肝、脾、肾真菌感染,1例合并下肢皮肤真菌感染(2)实验室检查3例有病原学依据,1例烟曲霉菌,2例念珠菌,2例无病原学依据。(3)影像学5例患儿均作头颅CTMRI,表现脓肿、梗塞、颅内出血。(4)治疗及预后1例患儿伊曲康唑+脂溶性两性霉素B治疗,2例患儿伏立康唑治疗,2例患儿伏立康唑和两性霉素B联合抗真菌治疗,抗真菌治疗均有效,4例存活,1例死于严重移植物抗宿主病(GVHD)。结论儿童急性白血病合并CNS真菌感染为侵袭性真菌感染的表现形式之一,多半有其他脏器感染,临床表现不典型,可有脑膜炎或脑脓肿症状和体征,诊断困难,CT、MRI影像学检查重要,伏立康唑、两性霉素B抗真菌治疗有效。     

深部真菌在儿童消化道的定植与感染

目的 了解儿童消化道深部真菌感染的临床特点,避免临床误诊及漏诊.方法 回顾性分析总结自2005年1月至2016年5月在广州市妇女儿童医疗中心消化科住院治疗,确诊为儿童消化道深部真菌感染患儿的临床特征及治疗效果.结果 总计确诊为消化道深部真菌感染6例,所有患儿均出现真菌性食管炎,其中合并真菌性胃肠病2例.主要临床表现为呕吐、喂养或进食困难.其中2例患儿伴有间歇性胸痛、腹痛.病程4~12周.起病前应用广谱抗生素1例;诊断先天性免疫缺陷1例;因先天性食管闭锁经历手术治疗3例.食管造影均提示食管狭窄.胃镜检查均出现食管黏膜损伤,散在成簇的灰白色斑点或豆腐渣样附着物3例,食管全周被灰白色豆腐渣样物覆盖,范围1/3~1/2食管全长,伴有食管腔堵塞3例.多发巨大的浅表溃疡2例.病变累及胃、十二指肠2例,其中1例累及范围自口腔至肛门整个消化道.6例患儿经黏膜病理检查或分泌物涂片检查确定为白色念珠菌感染.3例轻症患儿选择制霉素片口服,疗程2~3周.3例重症患儿予伊曲康唑口服,疗程3~4周.胃镜复查见食管、胃、十二指肠黏膜光滑,食管溃疡表面未见附着物.1例患儿结肠及末端回肠黏膜豆腐渣样附着物及溃疡明显减少.4例临床痊愈,1例确诊免疫缺陷病,因肺部感染死亡;1例全消化道感染者,3月后复发,目前仍在随诊中.结论 儿童消化道深部真菌感染主要表现为反复呕吐,进食困难及腹痛,病变范围可累及食管以至全消化道.食管黏膜损伤可能是诱因之一,同时应注意排除先天性免疫缺陷.确诊依赖于消化内镜检查、黏膜活检.抗真菌治疗有效.     

��ά֧���ܾ���ϻ�Էν�˲��ٴ�����

??Objective??To evaluate the clinical value of fiberoptic bronchoscopy in diagnosis of active pulmonary tuberculosis. Methods??Clinical data of 5 children with tuberculosis confirmed by fiberoptic bronchoscopy was collected??who were treated in Tianjin Children’s Hospital from Oct. 2013 to Apr. 2016. The clinical features and treatment procedure of the 5 cases were analyzed. Results??The age of the 5 cases??3 male and 2 female?? ranged from 1 to 13 years old with the disease course of 12-35 days. The immune function of the 5 cases were normal. All of the cases were with abrupt onset. 3 cases had fever??2 cases had recurrent cough. Three cases misdiognosed as pneumonia and infant wheezing. One case was misdiagnosed as pulmonary abscess. One case was misdiagnosed as pneumonia. All of the 5 cases denied having tuberculosis contact history and all the patients received regular BCG vaccination. Lesion invased the lung and pleural with 3 cases diagnosed as lung tuberculosis??1 case with secondary left main bronchial stenosis?? and 2 cases as tuberculosis of bronchus. All of the cases received regular anti-tuberculosis treatment and were discharged with the hospitalization of 11 days. The outcome was good. Conclusion??The clinical symptom?? sign and bronchoscopic features were not typical in children with tuberculosis. For children with the symptom of persisting cough who don’t respond to conventional anti infection treatment??fiberoptic bronchoscopy examination is recommended to help make clinical diagnosis.