Acute disseminated encephalomyelitis: A retrospective study of 20 children in a pediatrics department in Tunisia

BackgroundAcute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system. Little information is available about the clinical and neuroradiological profile or the follow-up of this disease in Tunisian children.AimTo determine the clinical, laboratory, and radiological features and the outcome of ADEM in children admitted to the pediatrics department of a university hospital in Tunisia.MethodsAll children ≤ 18 years old presenting with ADEM and admitted to the tertiary referral center for pediatrics at Sahloul University Hospital from January 2000 to December 2020 were included in the study. The diagnosis of ADEM was confirmed according to the international pediatric multiple sclerosis study group criteria.ResultsA total of 20 patients (13 girls and 7 boys) fulfilled the diagnostic criteria for ADEM. The mean age at diagnosis was 5.6 years. The clinical presentation included polyfocal neurological signs such as cranial hypertension (45%), seizures (35%), and motor weaknesses (55%). Pyramidal tract signs and cranial nerve palsies were noted in 55% of cases. Brain magnetic resonance imaging showed particular features, namely, a relapsing tumor-like form in one case, and optic neuritis and demyelinating lesions of the white matter in the brain and the spinal cord with gadolinium cerebral ring-like enhancement in another case. The treatment consisted of intravenous immunoglobulin in 16 cases (80%) and corticosteroid in 19 cases (95%). Plasmapheresis was used for one patient. Complete recovery was observed in 12 patients (60%); 19 patients (95%) had a monophasic course of the disease while only one patient developed multiphasic ADEM.ConclusionsADEM remains a difficult diagnosis in children. Nevertheless, after prompt diagnosis and adequate treatment, most children with ADEM have a favorable outcome with restitutio ad integrum.     

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目的探讨儿童川崎病(KD)的临床、治疗和预后特点。方法对2000—2005年广东省中山市博爱医院儿科收治的100例KD患儿进行随访,对其临床特征、治疗方案以及预后进行回顾分析。结果 (1)临床特点:发病年龄(2.01±1.35)岁,随访年龄(8.2±1.7)岁;男女之比为1.7∶1。典型KD88例,其中再发病例2例;不完全KD12例。心血管系统并发症25例,包括冠状动脉改变22例,心包积液2例,心肌炎1例,其中一过性冠脉扩张18例,冠脉瘤形成4例;非心血管系统并发症包括肝损害34例,胆囊积液3例,麻痹性肠梗阻1例,无菌性脑膜炎3例,面神经麻痹5例,肺炎53例,尿道炎12例,关节炎6例。(2)治疗和疗效:89例病程10d内给予丙种球蛋白(IVIG)2g/kg,12例无效,需追加第2次IVIG,其中2例加用肾上腺皮质激素。11例亚急性期确诊者给予IVIG1～2g/kg,其中3例并发冠脉瘤(P<0.05)。无冠脉损害者病程6～8周停药,18例有冠脉扩张者跟踪至半年至1年后停药,3例中小型冠脉瘤者在病程1～3年停药,1例巨大冠脉瘤者服用阿司匹林至今已7年。(3)随访和预后:56例追踪随访至病程≥5年,最长10年。随访...     

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??Abstract??Objective??To review the clinical features?? pathogenesis?? diagnosis?? treatment and prognosis of the reported children with acquired hemophilia A??AHA???? and to enhance the understanding of them. Methods??Eighteen children with acquired hemophilia ??including 2 cases from our hospital and sixteen cases from MEDLINE search?? were retrospectively analyzed and compared with adults with AHA. Results??The average age of onset was 6.6 years ??ranging from 2 to 14 years??. The average course from initiation of clinical symptom to making definite diagnosis was 3.1 months ??ranging from 1 week to 2 years??. The underlying conditions included infection??7 cases??38.9%???? penicillin??3 cases??16.6%???? kidney diseases??3 cases??16.6%?? and autoimmune diseases??2 cases??11.1%???? and only 3 patients had no reason to detect. The majority presenting symptoms were skin ecchymoses??61.1%??11/18?? and muscle hematoma??55.6%??10/18??.Seven cases??38.9%?? and 8 cases??44.4%?? acquired complete remission ??CR?? by the treatment of underlying conditions and??or no??immunosuppressive agents within 6 weeks and 60 months respectively. The overall CR rate reached 83.3%?? only 2 patients died of severe bleeding. The severity of hemorrhage and the time to obtain CR had no correlation with the level of APTT?? F?? ?? C and the titer of F?? ?? Ab??P > 0.05??. Conclusion??The report of children AHA is rare. It usually has underlying conditions. It is helpful for early diagnosis to understand clinical features and diagnostic flow of children AHA. It has good prognosis by the proper treatment of underlying dieases and necessary immunosuppressive agents.     

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??Objective??To study clinical features and diagnostic means of children with Prader-Willi syndrome??PWS?? from neonatal period to adolescence. Methods??Conduct retrospective analysis of clinical characteristics and genetic testing results of children with PWS in Children’s Hospital of Chongqing Medical University from January 2010 to January 2016. Results??Totally 46 children with PWS were chosen??28 male??18 female??the ratio of male to female being 3??2??the age of children receiving medication for the first time ranges from birth to 9 years old??the age of diagnosed children ranges from 14 days to 14 years??and the longest course of PWS had lasted for 9 years. The main clinical manifestations included hypotonia??28 cases??60%????feeding difficulties??20 cases??44%????low crying??18 cases??40%????disturbance of intelligence??42 cases??92%????obesity??25 cases??55%?? and microsomia??26 cases??57%????etc. Different ages showed different performances??newborns??0-28 days?? mainly had hypotonia??weak crying??poor suck??infants??29 days-1 year?? mainly showed backward motor development??hypotonia??weak crying??poor suck??special facial features and skin hypopigmentation etc.??babies??1-3 years?? mainly showed backward motor and intelligent development??hypotonia and skin hypopigmentation etc. Children????3 years?? mainly showed backward intelligent development??bulimia??obesity??microsomia and agenosomia??incomplete sextual development??. Among the samples??44 cases were 15q11-13 region deletion of paternal origin of the genetic material??96%????whilst 2 cases were uniparental disomy of maternal origin of the genetic material??4%??. Conclusion??As different children with PWS show different clinical manifestations??earlier genetic testing is beneficial to the early diagnosis.     

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??Abstract??Objective??To study the epidemiology??clinical and electrophysiological characteristics of the children with Guillain-Barré syndrome. Methods??Retrospectively analyze the electrophysiological and clinical data of 77 children wtih GBS in our hospital. Results??According to clinical and electrophysiologic findings??32 patients manifested acute inflammatory demyelinating polyradiculoneuropathy??AIDP???? 34 had acute motor axonal neuropathy??AMAN????4 had acute motor and sensory axonal neuropathy??ASMAN???? 4 were inexcitable?? 2 were unclassified and 1 had Miller-Fisher syndrome. The 77 patients included 53 boys and 25 girls.There were 27 boys and 5 girls in AIDP group and 18 boys and 16 girls in AMAN group. The AMAN group wer clearly seasonal ??June 4 to August 28?? .The mean time from the onset of illness to nadir was 7.09±3.17 days in the AIDP group and 4.94±1.59 days in the AMAN group. The mean disability score at nadir by the Hughes scale of 12 cases in AIDP group and 9 cases in AMAN group was ≤3??and 20 cases in AIDP group and 25 cases in AMAN group was ≥4.The number of cases in the respiratory muscle paralysis?? cranial nerve palsy and autonomic symptoms in the AMAN was more than in the AIDP group??but there was no statistical significance. In the sensory nerve involvement?? the AIDP was obviously more severe than in the AMAN group. Conclusion??The incidence of the AMAN and the AIDP group is similar in north Chinese children.Compared with AIDP group??the AMAN group has seasonal characteristics and gender differences. Between the two groups?? besides sensory nerve involvement ??there was no significant difference in the clinical feature and severity. However?? the clinical progress of the AMAN is faster than the AIDP group.     

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目的总结小儿化脓性脑膜炎的诊疗现状,为明确诊断、管理治疗提供参考。方法对2008年1月至2010年4月复旦大学附属儿科医院神经科住院诊治的66例化脓性脑膜炎患儿临床与辅助检查资料进行回顾性分析。66例年龄范围30d至11岁,中位数6个月。其中婴儿47例(71.2%)、幼儿11例(16.7%)、学龄前期5例(7.6%),学龄期3例(4.5%)。采用自定义诊断层面进行比较及总结。结果 66例中有前驱感染者37例(56.1%),有易感因素者6例(9.1%)。根据自定义诊断层面,病原学诊断明确者22例(33.3%)、临床符合诊断者33例(50.0%)、临床可能诊断者11例(16.7%)。原始脑脊液病原阳性率(62.5%)高于治疗后脑脊液(29.8%),原始脑脊液白细胞(WBC)异常升高比例(100.0%)亦高于治疗后脑脊液(91.2%),差异均有统计学意义(P<0.05)。原始脑脊液和治疗后脑脊液相比,糖和蛋白差异无统计学意义(P>0.05)。预后:临床治愈或好转53例(80.3%)、未愈13例(19.7%)。临床治愈或好转者平均疗程21d(范围5～56d)。常见并发症为硬膜下积液、听力损害、脑积水、硬膜下积脓等。结论化脓性脑膜炎仍是婴幼儿最常见的急性危重病之一,结合临床定义的不同诊断层面有助于治疗管理。     

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??Objective??To analyze the clinical characteristics and outcomes of children with stage I testicular germ cell tumors??TGCT????and to discuss the treatment strategy for this disease after radical inguinal orchiectomy. Methods??Clinical data of 41 patients with stage I TGCT at Shanghai Children’s Medical Center??Shanghai Jiaotong University School of Medicine between June 2003 to December 2013 were retrospectively analyzed. Their clinical characteristics??therapy and outcomes were analyzed. Results????1??The median age at diagnosis was 18??3 to 43??months old. Among them??38 children??92.7%?? were younger than 3 years old.The pathological subtype included 35 cases of yolk sac??85.4%????4 immature teratoma??9.7%?? and 2 mixed germ cell tumors??4.9%??.??2??Serum AFP levels were elevated in 38 patients??92.7%??. AFP reduced to normal in 27 cases??71.1%??4 weeks after surgery and in 35 cases??92.1%?? after 2 courses of chemotherapy respectively??but 2 cases of them relapsed with AFP increasing again.??3??Forty out of 41 patients underwent surgery and 3??4 courses of chemotherapy with cyclophosvnamide??vincristine and dactinomycin D??VAC??. One patient received surgery alone. The median follow-up period was 64 months. One of the 32 patients who received adjuvant chemotherapy relapsed and then lost follow-up without treatment. The recurrence rate was 3.1% and the 5-year overall survival was 100%. No complication related to chemotherapy occurred during the follow-up. The only one patient treated with surgery alone relapsed at 5 months and achieved complete response after salvage treatment. Conclusion????1??The relationship between the decrease of serum AFP and the prognosis is uncertain and needs to be further studied.??2??Short course chemotherapy with mild toxic side effects can reduce the recurrence rate effectively?? so it can be used as a necessary treatment for patients with high risk of relapse??and it can also be used as a selective treatment for patients with low risk of recurrence.     

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目的 探讨新生儿甲基丙二酸血症(MMA)的临床特征和治疗方法.方法 对首都医科大学附属北京儿童医院新生儿内科2002年5月至2008年9月20例应用气相色谱-质谱法(gas chromatography-mass spectrometry,GC/MS)进行尿或血有机酸分析确诊的新生儿MMA的临床资料进行分析.结果 20例患儿中男15例,女5例;发病日龄0～23 d,15例(75%)生后1周内发病.主要表现有喂养困难16例,反应减弱14例,呕吐6例,4例呼吸急促,惊厥3例,肌张力减低13例等.血小板减少10例,血气分析提示失代偿性酸中毒6例,高氨血症8例,20例尿甲基丙二酸浓度明显增高.15例头颅CT检查异常.未予治疗10例中1例确诊前死亡,7例放弃治疗出院后死亡,2例出院后失访.10例确诊患儿接受维生素B12治疗,同时予低蛋白饮食及左旋肉碱.2例死亡,8例进行2个月至3年5个月的随访.4例临床症状完全消失,4例明显好转.结论 新生儿MMA的临床表现是非特异性的,GC/MS尿有机酸分析可确诊本病,早期发现和治疗是改善预后的关键.     

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目的 了解儿童急性下呼吸道感染(ALRTI)病毒病原学特点.方法 2007年3月至2008年2月,在北京儿童医院内科就诊及住院治疗的临床诊断为ALRTI的患儿共572例.对每例患儿在就诊当日或次日采集鼻咽吸取物1份,采用逆转录(RT)-PCR方法进行常见呼吸道病毒核酸检测,包括呼吸道合胞病毒(RSV)、鼻病毒(RV)、副流感病毒(PIV)1～4型、甲型及乙型流感病毒(IFA、IFB)、腺病毒(AdV)、肠道病毒(EV)、冠状病毒(HCoV)、偏肺病毒(hMPV)及博卡病毒(HBoV).结果 572例患儿标本中,444例检出至少1种病毒,总检出率77.6%.各种病毒中,RSV检出率最高,占48.3%,其次是RV(27.1%)和PIV(13.3%).不同年龄组病毒的总检出率差异有统计学意义,<3岁组检出率较高,≥5岁组病毒检出率明显降低.不同年龄组JLRTI病原谱有所不同,<5岁各组主要是RSV、RV、PIV,而≥5岁组则主要为RV、IFV、RSV.572例中,158例(27.6%)检出2种或2种以上病毒,<1岁惠儿混合感染率最高,为40.2%,随年龄增长混合感染率逐渐下降,≥5岁患儿混合感染率仅为14.0%.结论 就诊于北京儿童医院的ALRTI患儿中,5岁以下者ALRTI的主要病毒病原是RSV、RV、PIV;≥5岁则主要为RV、IFV、RSV.     

急性播散性脑脊髓炎患儿的临床特征及复发因素

目的 探讨儿童急性播散性脑脊髓炎(ADEM)的临床特征及复发因素.方法 2003年2月-2009年12月,本院神经内科共收治符合ADEM诊断标准并完成随访的48例患儿,分析其临床资料、实验室检查、神经影像学特征及随访结果,总结其临床特征及复发因素.结果 48例ADEM患儿中,男22例,女26例;发病年龄1岁1个月～12岁6个月,中位年龄 6.3岁.发病前驱期有感染症状31例(占65%),疫苗接种史4例(占8%),无明显诱因13例(占27%).临床主要以运动障碍(46例)、精神障碍(21例)、头痛头晕(21例)及意识障碍(15例)为主要表现.MRI以皮质下白质、半卵圆中心、侧脑室周围、基底核、脑干及脊髓损害为主,呈点片状或稍长T1、长T2信号.8例为第2次复发或多次复发.其复发与视神经症状、头颅MRI上显示幕上和幕下病灶同时存在、脊髓病灶及视觉诱发电位异常有关.随访结果:34例完全缓解,无任何神经系统后遗症;8例复发;14例遗留神经功能缺损,主要以运动障碍为主.结论 儿童ADEM临床表现多样,视神经损害及磁共振成像显示病灶的部位对复发的判断有一定的临床价值.ADEM长期预后大多良好,少数患儿遗留神经功能缺损.