目的 探讨不同年龄段儿童动脉缺血性脑卒中(AIS)的病因.方法 回顾性分析首都医科大学附属北京儿童医院神经内科病房2016年1月至2020年12月收治的AIS患儿资料,根据2019年美国心脏协会和美国卒中协会儿童脑卒中的管理指南将AIS病因分为心源性、易栓症、脑动脉病、其他、病因不详5大类.根据年龄分为婴幼儿(＞28d至＜3岁)、学龄(前)儿童(3～＜10岁)和青少年(10～＜18岁).分析不同病因患儿的临床特点.结果 共纳入129例AIS患儿.脑动脉病是首要病因,共47例(36.43％),最常见的亚型为局灶脑动脉病(FCA,15例)和Moyamoya病(17例).婴幼儿AIS共51例(39.53％),外伤后基底节脑梗死是首要病因(24/51,47.06％),这部分患儿中21例有基底节钙化.学龄(前)儿童AIS共54例(41.86％),青少年AIS共24例(18.60％),两者均以脑动脉病为首要病因.学龄(前)儿童AIS中存在11例病因不详的患儿,均为男性,影像学椎基底动脉供血区有多个梗死灶,不能除外椎动脉夹层,但均未行颈部CTA或MRA检查.青少年AIS中2例患儿经基因检查明确诊断为腺苷酸脱氨酶2缺乏症.结论 不同年龄段儿童AIS病因存在差异,婴幼儿以外伤后基底节脑梗死最为常见,学龄(前)儿童和青少年以脑动脉病最为常见.FCA和Moyamoya病是脑动脉病中最常见的亚型.

Objective To describe the clinical features of pediatric anti-myelin oligodendrocyte glycoprotein-IgG associated optic neuritis.Methods Retrospective cohort studies.Clinical data,laboratory examination,MRI imaging,treatment and prognosis of children diagnosed with MOG-ON from 2016 to 2019 were retrospectively analyzed.Results A total of25 children were involved,13 patients were male and 12 patients were female.The mean age of onset was（8.3±2.2）years.（1） Clinical features:There were 10 unilateral patients and 15 bilateral patients at the first attack.The best corrected visual acuity（BCVA） was lower than 0.1 in 31/40（78%） eyes.9 patients（36%） suffered from eye pain at the first attack.Ten patients had recurrent ON,eventually involving 47 eyes and 22 patients（88%） with bilateral involvement.（2） Auxiliary examination:At the first attack,29/40 eyes（72%） had optic disc edema.23/25 cases（92%）had abnormal visual evoked potentials,which were prolonged P100 latency with or without amplitude reduction.Orbital MRI scans showed T2 hyperintensity of optic nerve in 84%patients（16/19）,and 10 cases involved more than 2segments,10 cases with enhancement.16/25（64%）brain MRI showed intracranial lesions,9/23（39%） spinal cord MRI abnormalifeties.（3） Treatment follow-and up:All patients showed effective results after intravenous methylprednisolone with or without intravenous immunoglobulin（IVIG） treatment.Nine children received mycophenolate mofetil or rituximab with a median follow-up of 2.2 years（range1.7～3.6）,and 5 children（55.6%） relapsed,and the median annual recurrence rate after treatment decreased compared with that before treatment（1.47 vs 0.41,Z=-3.6,P＜0.001）.During a median follow-up of 43.5 months（IQR 36.6～56.6）,12 patients experienced relapses,including ON and non-ON attacks.At the final visit,89%（42/47） of the eyes had BCVA≥0.8,and 100% of the eyes had BCVA≥0.5.The comparison of BCVA in different stages showed that the BCVA after 2 weeks of treatment in the acute stage and the BCVA at the final visit were significantly changed compared with the peak BCVA,and the differences were statistically significant（P＜0.001）.（4） OCT results showed that with the extension of the disease course,the thickness of pRNFL in each quadrant gradually decreased and gradually became stable.The RNFL thickness in each quadrant was significantly thickened in the acute stage of ON,and the RNFL thickness in each quadrant was significantly shrunken and thinned in more than 6 months of follow-up,and the difference was statistically significant.Conclusions Bilateral involvement was more common in pediatric MOG-ON,always with severe visual impairment at the time of the acute phase.Most of them are associated with optic disc edema,respond well to glucocorticoid therapy,and have a high recurrence rate.Although the prognosis for visual function is good,thinning of the optic nerve is seen on OCT.

Objective:To describe the clinical features of pediatric biotinase deficiency (BTD) manifested as spinal cord disease.Methods:The clinical data of a child with spinal cord lesions due to biotinase deficiency, diagnosed in Beijing Children′s Hospital in 2020, were collected. The cases with complete clinical data retrieved on literature reported in China National Knowledge Infrastructure, Wanfang Data knowledge Service Platform and PubMed (up to August 2021) by using search terms of biotinase deficiency, pediatric, spinal cord, myelopathy and myelitis were summarized.Results:The patient was a 3 years and 5 months old boy with the main clinical manifestations of subacute progressive limb weakness and wheezing. Physical examination showed sparse hair, rough skin, spastic paraparesis and developmental delay. Cerebrospinal lactic acid was increased (5.67 mmol/L). Cranial magnetic resonance imaging (MRI) showed diffuse T 2/fluid attenuated inversion recovery hyperintensity of the midbrain, dorsal pons, edulla, periacqueductal grey and optic tracts. Spinal cord lesions were extended from the medulla up to the level of the conus. Urineketone bodies and 3-hydroxyisurate were increased. The activity of biotinidase was 0.27 pmol/min (3 mm disc), being 7% of mean normal serum activity. Genetic studies revealed homozygous mutation in the BTD gene [c.284T>A (p.I95N)]. After biotin supplementation for 6 months, the only evident abnormality was residual spasticity of lower limbs. Fourteen English literatures and 2 Chinese literatures including 18 cases were collected. The onset age was from 2 months to 15 years (median age was 4 years). Among them, 11 cases had cranial MRI abnormalities, of which all involved brain stem, 6 cases involved optic tracts and (or) optic chiasm. All 18 cases had spinal cord MRI abnormalities with longitudinally extensive lesion, mostly involved cervical and thoracic spinal segments, and 3 cases involved all spinal segments. Twelve cases received immunotherapy, and 6 were partially improved, 6 were completely invalid. After biotin supplementation, 12 patients had neurological disability. Conclusions:BTD should be included in the differential diagnosis of subacute myelopathy, regardless of the onset age. Early diagnosis and treatment can prevent irreversible neurological damage.

线粒体病是儿童时期最常见的遗传代谢病之一,可导致多系统损害.能量需求大的器官易受累.常合并眼科症状,甚至为首发表现或惟一表现.该文介绍几种常见以眼科表现为主的线粒体病眼部症状及遗传学表现,并对治疗进行概述.

目的 通过对儿童多发性硬化(MS)系统随访,总结其躯体、心理预后及视力特点.方法 回顾性收集首都医科大学附属北京儿童医院近10年来经McDonald诊断标准评估确诊的MS病历,对病程3年以上的MS病例进行系统的随访,随访内容包括日常生活活动能力评估(ADL),扩展的功能障碍量表评分(EDSS),神经心理评估(抑郁、焦虑、注意力、社会生活能力)和智力检测,眼科检查[最佳矫正视力、光学相干断层扫描(OCT)测量视神经纤维层(RNFL)厚度、图形视觉诱发电位(P-VEP)]等,对预后进行综合分析.结果 23例MS患儿进入分析.男10例,女13例,平均起病年龄7.7岁;复发缓解型20例,进展复发型2例,继发进展型1例.23例均复发,次数1 ～10次.平均随访7.7(3.6 ～14)年,均行ADL评分,完全依赖和中度依赖各1例,均为进展复发型;16例行EDSS评分,EDSS 0分11例,EDSS≤2.5分4例,EDSS 4.0分1例(为进展复发型);15例完成神经心理检查,韦氏智力测验2例低于平常,2例边界,1例社会适应能力临界,6例存在注意力缺陷,4例存在轻度焦虑情绪,均无抑郁情绪.16例患儿32眼完善眼科检查,30眼矫正视敏度0.5～1.5,视野无异常,余2眼仅存光感;合并视神经炎MS患儿眼底均提示视神经萎缩,OCT检查结果显示视神经眼在各个象限的RNFL厚度与无视神经炎眼相比明显变薄(P＜0.001);P-VEP检查中视神经炎眼较无视神经炎眼P100潜伏期明显延长,振幅明显减低(P＜0.05)结论 儿童MS复发缓解型预后尚好,多合并视神经萎缩,但无视力严重受损;其他类型预后差,多遗留躯体残疾及视力残疾,OCT检查可对视神经受累程度定量测定.儿童MS可出现认知损害、焦虑和注意力缺陷等多种神经心理问题.

Objective To analyse the clinical features of pediatric multiple sclerosis(PMS)in order to improve the understanding of PMS.Methods Patients diagnosed or suspected with PMS in neurology ward from January 2002 to July2012 were collected. Cases who met both the 2010 revised McDonald diagnostic criteria and children's additional criteria for MS were included in our study. The clinical data of the clinical symptoms and signs,laboratory examination and MRI results of each case were collected and retrospectively analyzed.Results In total,31 cases of PMS were includedin our study,15 males and 16 females. Age of onset ranged from 2.3 to 13.8 years,with 77% younger than 10 years old.Among 31 cases,28 cases were RRMS,2 cases were PRMS,and 1case was SPMS. Vision disorder was seen in 25 cas-es,limb paralysis in 21 cases,urine obstacles in 14 cases,ataxia in 13 cases,convulsions in 11 cases,sensory distur-bance in 9 cases. Nine cases presented as acute encephalopathy at onset; 31 cases all had relapses,relapse time rangingfrom 1 to 10; the first relapse interval ranged from 1.2 months to 84 months,with an average of 9.8 months; 23 cases(74%)relapsed in the first year. There was no difference of onset and the relapse frequency between OB- positive and OB- negative group. Cranial MRI of the first episode in 24 cases showed multiple long T1 and long T2 abnormal signal.MRI lesions of 20 cases were in deep gray matter,and subcortex white matter were involved in 19 cases, in which 7 cases showed large patchy fusion lesions. Central white matter lesions were detected in 11 cases,cortical lesions and cerebellar involved in 8 cases respectively.Conclusion Most pediatric MS patients are under ten years old. The initial cliniting,and the relapse rate is higher in the first year. Pediatric MS can present with various symptoms,and the optic neuritis,limb paralysis,ataxia,sensory disorder andurine obstacles are common. Some can present as acute encephalopathy and seizure without fever. Brain lesions are typically large confluent lesions with poorly defined borders in cortical and subcortical white matter,with cortical swelling.Most cases involve both the gray matter and the white matter,and the deep gray matter are involved commonly. Most cases involve the cervical and thoracic in spinal MRI. The positivity or negativity of cerebrospinal fluid OB is not related to the onset age or relapse times.

The awareness of pediatric multiple sclerosis had increased during the past 10 years.Now,the current state of knowledge on pediatric multiple sclerosis,including pathogenesis,clinical manifestations,MRI features,diagnosis,treatment and prognosis were summarized.

点头痉挛是一种发生于婴儿时期,以眼球震颤、点头、斜颈为特征的罕见临床综合征,1897年由Raudnitz首次报道[1].患儿多因眼球震颤就诊于眼科,或由于点头就诊于神经内科,字面上较容易与婴儿痉挛症相混淆.婴儿痉挛症是年龄依赖性癫(痫)脑病,而点头痉挛则是一种非(癎)性、良性、自限性、发作性疾病,大多数患儿的临床症状会在学龄前期自行缓解.尽管临床少见,点头痉挛也被数名学者系统的描述过.近年来,也有很多学者对其预后进行了长期追踪随访.现就国内外对婴儿点头痉挛的临床表现、病因、发病机制及诊断的研究加以综述.

1临床资料患儿男,10个月.因"发作性双眼球震颤伴头部摆动2个月余"于2011 -06-22入首都医科大学附属北京儿童医院神经内科病房.2个月前患上呼吸道感染后,家长发现患儿出现双眼球水平震颤伴头部摆动,症状于立位与坐位时明显,仰卧位时及入睡后消失,在注视某一固定物体时,症状消失.1个月后症状较前加重,就诊于当地医院,行头颅核磁未见异常,考虑"病毒性脑炎",予利巴韦林、维生素C、维生索B6、鼠神经生长因子治疗1个月,无效.