中国北方地区老年重症肌无力患者的临床特点

目的 总结中国北方地区60岁以后发病的老年重症肌无力(MG)患者的临床特点.方法 回顾性总结47例老年MG患者的性别构成、首发症状、病情严重程度、胸腺改变、伴发疾病、治疗情况、发生危象比例等,并与中青年MG患者进行比较.结果 老年MG患者占所有住院MG患者的23.04%,男女比例为0.96∶1.00;老年MG患者以上睑下垂为主要首发症状,病情最重时约68.09%的患者进展为全身型MG,这一比例低于中青年组(P<0.05);该组老年MG患者合并胸腺瘤的比例为22.5%,低于中青年组(P<0.05); 59.57%的患者合并糖尿病、原发性高血压、冠心病等内科疾病,高于中青年组(P<0.05);除应用溴吡斯的明治疗以外,72.34%的患者应用了免疫抑制剂治疗,仅19.15%的患者应用激素治疗,应用激素治疗的比例低于中青年组(P<0.05);12.76%的老年MG患者出现肌无力危象,与中青年组比较差异无统计学意义.结论 老年MG患者并不少见,男女比例相近,以上睑下垂为最常见首发症状,病情最重时大多数患者会发展为全身型MG,故仍需要给予免疫调节治疗;老年MG患者合并胸腺瘤比例低于中青年患者,但合并其他内科疾病比例高于中青年患者,其治疗以免疫抑制剂为主,而激素应用和胸腺切除术受到限制.     

胸腺瘤的病理类型与重症肌无力发病的相关性研究

目的探讨胸腺瘤WHO病理分型与重症肌无力(MG)发病的相关性。方法收集2008-01—2018-12在大连大学附属新华医院住院的101例胸腺瘤患者,均行胸腺扩大切除术治疗,对患者的临床及病理资料分析,并定期术后随访。根据2004版WHO胸腺瘤的病理分型,分析胸腺瘤患者的WHO病理分型与MG发病的相关性。结果121例胸腺瘤患者中,病理类型A型30.77%合并MG,AB型30.00%合并MG,B1型56.52%合并MG,B2型72.00%合并MG,B3型56.52%合并MG,C型28.57%合并MG,差异有统计学意义(P<0.05)。胸腺切除术的疗效A型有效率最高,为100%,其次是B1型,有效率92.31%,AB型有效率77.78%,B2型有效率66.67%,B3型有效率46.15%,C型有效率最差(0),差异有统计学意义(P<0.05)。结论胸腺瘤的病理类型与MG具有相关性;B2型胸腺瘤与其他病理分型相比更易合并MG;胸腺瘤病理恶性程度越高,手术切除治疗MG的效果越差。     

合并胸腺异常重症肌无力患者的临床特征分析

目的分析合并胸腺异常重症肌无力(myasthenia gravis,MG)患者的临床特点。方法回顾性分析91例MG患者的临床资料,根据胸腺异常类型分为胸腺正常组55例(60.4%)、胸腺增生组16例(17.6%)和胸腺瘤组20例(22.0%)。比较3组患者的一般特征、首发症状、临床分型、病情严重程度、合并疾病及治疗方法等的差异。结果各组患者平均年龄、性别构成、发病类型、病情进展比较无统计学差异(均P0.05)。胸腺增生组和胸腺瘤组首发症状表现为肢体无力者比例较胸腺正常组明显升高(χ~2=7.294,P0.05)。入院时和病情最重时Osserman分型比例在3组间差异存在统计学意义(H=6.049,P0.05;H=16.85,P0.01)。3组患者在合并免疫性疾病方面存在统计学差异(χ~2=22.841,P0.05),其中胸腺增生组比例最高为62.5%。除常规给予胆碱酯酶抑制剂治疗外,胸腺正常组合用激素治疗39例(70.9%),胸腺增生组5例(31.3%),胸腺瘤组8例(40.0%),3组间比较存在统计学差异(χ~2=11.036,P0.01)。结论合并胸腺异常MG患者具有自身的临床特点,治疗方案有别于正常胸腺MG患者。     

老年重症肌无力住院患者48例临床特点分析

目的分析老年重症肌无力(MG)住院患者的有关临床特点。方法回顾性分析近年来在我院住院诊治的48例老年MG患者的临床资料。结果老年MG患者占总住院MG病例数(175例)的比例为27.4%。男性多于女性,男∶女=2.7∶1。老年MG多在60~69岁之间发病,在其常见首发症状中,眼部症状最多,为34例(70.8%)、球麻痹其次,为8例(16.7%)、肢体肌无力5例(10.4%)、肌萎缩1例(2.1%)。老年MG患者中,全身型比例(70.8%)显著高于眼肌型(29.2%),较少合并自身免疫性疾病和发生危象,常合并胸腺病变(17例)及其他内外科疾病(36例),其中15例为胸腺瘤。伴胸腺病变的老年MG患者出现首发症状的年龄与无胸腺病变的老年MG患者比较差异无统计学意义;而伴胸腺病变的老年MG患者需住院治疗时的年龄显著小于无胸腺病变的老年MG患者,差异有统计学意义(P0.05)。结论老年MG具有其自身特点,男性多见,早期表现多为眼肌无力,全身型比例高于眼肌型,胸腺病变主要为胸腺瘤,危象发生率较低等临床特点。     

药物及胸腺切除手术治疗重症肌无力的疗效分析

目的探讨伴有不同胸腺情况的重症肌无力(MG)患者对药物及胸腺切除术(TX)的疗效。方法对我院确诊的71例MG患者进行回顾性分析,根据胸腺CT情况将患者分为胸腺CT正常组、合并胸腺增生组、合并胸腺瘤组及合并胸腺癌组,采用Fisher精确检验法比较各组对两种治疗方法的疗效。结果胸腺CT正常的MG患者多采取药物治疗,缓解率为52%,有效率为88.5%;合并胸腺增生、胸腺瘤、胸腺癌的MG患者多采取了TX治疗。合并胸腺增生组的术后缓解率(62.5%)明显高于合并胸腺瘤组(8.3%)(P<0.05);合并胸腺增生组的术后有效率(93.7%)与合并胸腺瘤组差异无显著性(83.3%)(P>0.05)。结论合并胸腺增生的MG患者TX的术后疗效优于合并胸腺瘤者。     

老年起病型重症肌无力患者的临床特点

目的探讨老年起病型重症肌无力(MG)的临床特点。方法回顾性分析332例起病年龄≥65岁的MG患者的临床资料。结果该组MG患者男女比例为1.3∶1。全身型MG (GMG)和眼肌型MG(OMG)的比例为1.9∶1,OMG在男性多于女性而GMG在女性多于男性(P=0.033)。以OMG起病和以GMG起病的比例为1.5∶1,起病症状以眼睑下垂最多见占38.6%;在以OMG起病的患者中,女性患者转化为GMG的比率要明显高于男性患者(P=0.035)。病程中位数为3.7年,平均定量MG评分为7分。新斯的明试验阳性率为96.7%。低频重复频率电刺激波幅递减的总体发生率为48.2%,其中面神经的阳性率最高。MG合并胸腺异常的发生率为36.3%,以合并胸腺瘤者最多;胸腺瘤手术后病理分型以AB型最多,女性患者AB型胸腺瘤所占的比率要明显高于男性(P=0.048)。MG合并甲状腺功能异常的发生率为16%,以合并甲状腺功能亢进者最多。结论老年起病型MG患者GMG多于OMG、以OMG起病的女性患者转化为GMG的比率高于男性患者,胸腺瘤是最常见的胸腺异常且最常见的胸腺瘤病理分型为AB型。充分认识其临床特点有利于更好的治疗该类患者。     

胸腺切除术治疗重症肌无力的远期疗效观察及影响因素分析

目的:分析重症肌无力(MG)病人胸腺切除术后的远期疗效及其影响因素。方法:对确诊为MG作胸腺切除术的56例患者经1～10年的随访,作回顾性研究,评价其远期有效率和存活率。结果:MG伴胸腺瘤11例,有效率63． 7％;MG伴胸腺增生41例,有效率73．1％。使用类固醇激素者46例,有效率79．5％;未用类固醇激素者10例,有效率 20．3％。结论:胸腺切除术治疗MG的远期预后与胸腺病理改变、临床分型及是否使用类固醇激素有关,术后应常规使用类固醇激素,以提高远期疗效。     

重症肌无力伴胸腺脂肪瘤11例临床分析

目的 研究重症肌无力(MG)伴胸腺脂肪瘤的临床特点并探讨其临床病理特征、诊断和治疗.方法 回顾性分析11例MG伴胸腺脂肪瘤患者的病例资料,并与文献报道资料相比较.结果 MG可伴发胸腺脂肪瘤,病理检查结果证实瘤体由大量成熟脂肪细胞及少量胸腺上皮细胞组织构成,有的病例胸腺上皮中含有Hasal小体,但均未发现生发中心;经胸腺切除术和药物治疗后并随访1年,结果临床痊愈4例(36.36%),缓解5例(45.45%),有效1例(9.09%),无效1例(9.09%),总有效率90.91%.结论 胸腺脂肪瘤与MG是否有因果关系尚不明确,对两者并存的患者,早期诊断、及时手术治疗以及术后应用免疫抑制剂治疗可取得较好疗效.     

重症肌无力合并胸腺瘤患者手术疗效（附26例）

目的 :研究重症肌无力 (MG)合并胸腺瘤患者胸腺切除术的疗效。方法 :按Masaoka分期将 2 6例MG合并胸腺瘤者分为Ⅰ期 6例 ,Ⅱ期 13例 ,Ⅲ期 6例 ,Ⅳ期 1例。全部行胸腺切除术。结果 :术后 4例发生危象。随访 2年 ,19例 ( 73 1% )的患者术后病情明显改善 ;7例 ( 2 6 9% )没有变化或者疗效差。结论 :MG合并胸腺瘤的患者应早期适时进行胸腺切除手术。     

伴胸腺瘤重症肌无力的临床特点(附96例分析)

目的　研究伴胸腺瘤重症肌无力的临床特点。方法　对经手术病检证实的 96例MG伴胸腺瘤患者的临床资料进行回顾性分析 ,并采用 χ2 检验及t检验与 114 9例经影像学检查无胸腺瘤表现的MG患者进行比较。结果　胸腺瘤组男性发病者多 (男∶女 =1 82∶1) ,且多于 30岁后发病 (71 9% ) ,以肢体无力和延髓症状首发者多见 (4 3 8% ) ,按改良Os serman分型 ,以Ⅲ型和Ⅳ型为主 (4 5 8% ) ,危象发生率高 (38 5 % ) ,病死率高 (8 3 % )。结论　伴胸腺瘤的重症肌无力有其独特临床特点 ,充分认识这些特点将有利于指导对这类患者的临床诊断和治疗     

下丘脑错构瘤40例临床分析

目的 总结下丘脑错构瘤的诊断和治疗。方法 40例下丘脑错构瘤，男：女＝1.35:1；发病年龄为2个月至51岁，中位数为12.5个月。15岁以下儿童32例（80％），成人（18岁以上）4例（10％）。其临床主要特点为痴笑样癫痫和性早熟，少数还有其它类型癫痫、智力低下或合并先天畸形；其中单纯性早熟者19例（48％），性早熟合并癫痫者14例（35％），单纯癫痫者7例（18％）。CT、MRI显示脚间池或垂体柄后上方有等信号（等密度）病变，注药无强化，手术治疗27例，除1例采用经纵板入路外，均采用经翼点入路切除错构瘤；γ刀治疗8例；药物治疗1例。结果 全切14例（52％），其中10例为单纯性早熟者，均治愈；大部切除13例，症状明显好转，手术有效率为975；单纯γ刀治疗的5例中有效1例，余4例观察时间尚短，而难以判断；药物治疗性早熟有效，但对痴笑样癫痫及其它类型癫痫无效。结论 下丘脑错构瘤首选治疗为手术切除。     

Nonconvulsive status epilepticus in children: clinical and EEG characteristics

BACKGROUND: Nonconvulsive status epilepticus (NCSE) is a highly heterogeneous clinical condition that is understudied in the pediatric population. OBJECTIVE: To analyze the epidemiological, clinical, and electroencephalograpic features in pediatric patients with NCSE. METHODS: We identified 19 pediatric patients with NCSE from the epilepsy database of the Comprehensive Epilepsy Center at, Columbia University between June 2000 and December 2003. Continuous electroencephalographic (EEG) monitoring was analyzed and chart review was performed. RESULTS: The patients ranged from 1 month old to 17 years of age. Five patients developed NCSE following convulsive status epilepticus (CSE), and a further 12 patients developed NCSE after brief convulsions. Two developed NCSE as the first manifestation during a comatose state following hypoxic events. Acute hypoxic-ischemic injury was the most frequent etiology of NCSE in our population (5 of 19; 26%), followed by exacerbation of underlying neurometabolic disease (4 of 19; 21%), acute infection (3 of 19; 16%), change in antiepileptic drug regimen (3 of 19;16%), refractory epilepsy (2 of 19; 11%) and intracranial hemorrhage (2 of 19; 11%). Six patients had associated periodic lateralized epileptiform discharges (PLEDs), one had generalized periodic epileptiform discharges (GPEDs). Five (5 of 19; 26%) patients died of the underlying acute medical illness. Periodic discharges were associated with worse outcome. CONCLUSION: The majority of our patients with NCSE had preceding seizures in the acute setting prior to the diagnosis of NCSE, though most of these seizures were brief, isolated convulsions (12 patients) rather than CSE (five patients). Prolonged EEG monitoring to exclude NCSE may be warranted in pediatric patients even after brief convulsive seizures. Prompt recognition and treatment may be necessary to improve neurological outcome.     

Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures

Summary: We describe the clinical course and treatment of 19 patients with the Northern epilepsy syndrome, an autosomal recessively inherited epilepsy with associated mental deterioration. The clinical course could be divided into three successive stages. The first stage continued from the onset of epilepsy until puberty. Seizures began at a mean age of 6.6 years and consisted predominantly of generalized tonic-clonic convulsions (GTC) and, transiently, also of complex partial seizures (CPS). Until puberty, seizure frequency increased in most patients from one attack in 1–2 months to one to two attacks weekly. Seizures did not respond to phenytoin (PHT) or carbamazepine (CBZ), were transiently controlled by valproate (VPA) and phenobarbital (PB), but were effectively treated only by clonazepam (CZP). Mental deterioration began 2–5 years after the onset of epilepsy and was most rapid before adulthood, a time when the seizures were also most frequent. The second stage is marked by fewer seizures, further mental deterioration, and less rapid progression. All patients were demented (I.Q.<70) by age of 30 years. The first signs of motor clumsiness also appeared then. The third stage was one of permanent disability and usually began in middle age. Seizures were few, but the patients were clumsy and had marked equilibrium difficulties.     

Cervical spondylarthrotic myelopathy with early onset in Down's syndrome: five cases and a review of the literature

Progressive walking difficulties and bladder dysfunction may be attributed to Alzheimer disease or atlanto-axial subluxation in people with Down's syndrome (DS). The present authors describe five patients with DS suffering from the above symptoms as a result of cervical spondylarthrotic myelopathy. Clinical and radiological data were collected from all patients with DS who underwent surgery for cervical spondylarthrotic myelopathy at the Leiden University Medical Centre during the period between 1991 and 1995. Five patients with DS (four males and one female) were identified. Their mean age at diagnosis was 42 years. The main clinical features were weakness of the arms and legs, ataxic gait, hyperreflexia and bilateral Babinski signs. Radiological examination showed spondylarthrosis, compression of the spinal cord and myelomalacia. The mean delay in diagnosis was 3 years. All five individuals showed clinical stabilization after laminectomy. Cervical spondylarthrotic myelopathy seems a rather frequent disorder in DS, occurring at a relatively young age. Early diagnosis may prevent irreversible neurological deficits.     

Single gene,two diseases,and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

AimTo present seven new genetically confirmed cases of biotin–thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.Material and methodsGenetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described.ResultsAmong seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form.ConclusionBTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children’s lives.     

22例Chiari畸形Ⅰ型合并脊髓空洞症的疗效分析

目的探讨后颅窝减压术合并枕大池重建术治疗Chiari畸形Ⅰ型合并脊髓空洞症的手术疗效。方法回顾性分析22例Chiari畸形Ⅰ型合并脊髓空洞症患者的临床资料。结果手术后1周内症状消失或改善的19例;随访术后6个月~2年,症状消失或改善的14例;其中脊髓空洞症减小或消失10例。结论后颅窝减压合并枕大池重建术是临床治疗Chiari畸形Ⅰ型合并脊髓空洞症安全有效的手术方法。     

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.     

Clinical Features, Prothrombotic Risk Factors, and Long-Term Follow-Up of Eight Pediatric Moyamoya Patients

Background and Purpose

The aim of this study was to elucidate the clinical features, prothrombotic risk factors, and outcome of pediatric Moyamoya patients.

Methods

Patients diagnosed with Moyamoya disease at a tertiary center between January 2000 and December 2006 were enrolled in this study. The clinical presentations, underlying diseases, prothrombotic risk factors, family history of thrombosis, radiological findings, treatment, and outcome of the patients were reviewed retrospectively.

Results

Eight patients with angiographically proven Moyamoya disease were identified, one of whom had neurofibromatosis type I and one had Down syndrome. The age at diagnosis varied between 19 months and 11 years (73.4±41.8 months, mean±SD). The follow-up period after diagnosis was 52.5±14.8 months. In six patients, the initial clinical presentation was hemiparesis. None of the patients had any identifiable prothrombotic factors. Despite medical and surgical treatment, three patients had recurrences and one died. Only two patients recovered without sequelae.

Conclusions

The value of prothrombotic risk factor evaluation appears to be limited in Moyamoya patients; the outcome for pediatric patients remains dismal.     

Effects of COVID-19 on Parkinson's Disease Clinical Features: A Community-Based Case-Control Study

The impact of coronavirus disease 2019 (COVID-19) on clinical features of Parkinson's disease (PD) has been poorly characterized so far. Of 141 PD patients resident in Lombardy, we found 12 COVID-19 cases (8.5%), whose mean age and disease duration (65.5 and 6.3 years, respectively) were similar to controls. Changes in clinical features in the period January 2020 to April 2020 were compared with those of 36 PD controls matched for sex, age, and disease duration using the clinical impression of severity index for PD, the Movement Disorders Society Unified PD Rating Scale Parts II and IV, and the nonmotor symptoms scale. Motor and nonmotor symptoms significantly worsened in the COVID-19 group, requiring therapy adjustment in one third of cases. Clinical deterioration was explained by both infection-related mechanisms and impaired pharmacokinetics of dopaminergic therapy. Urinary issues and fatigue were the most prominent nonmotor issues. Cognitive functions were marginally involved, whereas none experienced autonomic failure. © 2020 International Parkinson and Movement Disorder Society     

The clinical profile of childhood optic neuritis.

PURPOSE: To report the clinical features and outcome of a series of children with optic neuritis. METHODS: We reviewed the medical records of patients up to 16 years old with optic neuritis. Group 1 comprised children seen up to two weeks after the onset of visual loss; Group 2 comprised patients already harboring optic atrophy. RESULTS: There were 15 boys and 12 girls. The mean age was 10.9 years. Bilateral optic neuritis occurred in 10. Optic disc pallor was found in 35%, edema in 46%, and 19% had normal fundus. During follow-up visual acuity improved in all but one eye in Group 1, and in six of seven eyes in children in Group 2. Just one child converted to multiple sclerosis. CONCLUSIONS: This study shows that the clinical features of childhood optic neuritis differ from those observed in adults. In children it has a better visual outcome and a lower conversion rate to multiple sclerosis than in adults.