颅脑损伤后并发抗利尿激素分泌异常综合征（附8例报告）

目的总结分析颅脑损伤后抗利尿激素分泌异常综合征（SIADH）的发病机制和临床特点.方法回顾性分析本科近5年收治的8例颅脑损伤后并发抗利尿激素分泌异常综合征病人的临床特点：8例病人血钠均＜130 mmol/L,血浆渗透压＜270mmol/L,尿渗透压与血浆渗透压之比＞1,尿钠＞25 mmol/L.结果7例血钠＞120 mmol/LL病人经限水及补钠治疗后血钠均恢复正常,1例血钠＜120 mmol/L的患者,限水同时静脉补充3%的高渗盐水,静脉注射速尿40mg/d和静脉滴注ACTH50U/d后血钠恢复正常.结论颅脑损伤后并发抗利尿激素分泌异常综合征的发病机制及治疗措施不同于低钠血症,早期对本病作出诊断和治疗可降低颅脑损伤病人的病残率和死亡率.     

鞍区手术并发脑性盐耗综合征10例报告

目的 探讨鞍区术后并发脑性盐耗综合征(CSWS)的诊断和治疗。方法 回顾性分析10例鞍区手术后并发CSWS患者的临床资料并结合文献进行讨论。结果 10例中多尿者3例,多尿加消化遗症状者5例,多尿加消化道症状及意识障碍者2例;血钠130～120mmol/L者8例,119～112mmol/L者2例;尿钠均>25mmol/L,最高达156mmol/L;尿比重1.010～1.020。其中9例完全康复,1例1年后死于低钠血症,结论 提高对本病的认识,补充钠盐及扩容是治疗本病的关键。     

脑肿瘤切除术后脑性耗盐综合征的临床研究

目的　探讨脑肿瘤切除术后脑性耗盐综合征 (CSWS)的病因、类型、诊断及处理方案。方法　分析 2 3 4例脑肿瘤术后出现 2 1例脑性耗盐综合征的病例资料及诊疗情况 ,患者多在术后第 4～ 9天出现血钠下降 ,血钠均低于 13 0mmol/L ,2 4h尿钠排泄均超过 10 0mmol,CVP <6cmH2 O。结果　 18例一过性低钠血症 ,经充分补钠、补液治疗 4～ 9d后恢复正常 ;1例颅咽管瘤患者术后第 10天死亡 ;2例持续性低钠血症患者病情明显恶化 ,但补钠效果不佳。结论　鞍区肿瘤术后CSWS发生率较高 ,常伴有尿崩症 ;颅咽管瘤术后CSWS发生率较垂体瘤术后高 ,血钠降幅更显著。CSWS存在一过性和持续性两种类型。     

低钠血症与吉兰-巴雷综合征预后的相关性

目的 探讨低钠血症是否为吉兰-巴雷综合征(Guillain-Barr6 syndrome,GBS)患者预后不良的重要因素.方法 以GBS急性期患者作为研究对象,以病情高峰期英国医学研究理事会制定的肌力测定法总分作为GBS患者病情等级评估的标准,将患者划分为轻、中、重型.GBS高峰期血清钠值＜ 135 mmol/L作为低钠血症的诊断标准.回顾性分析GBS患者低钠血症的患病率、危险因素及对GBS预后的影响.结果 455例GBS患者满足入组标准纳入本研究.其中轻、中及重型患者分别为178、100和177例.98例(21.5％) GBS患者发生了低钠血症.其中,重型GBS患者低钠血症的患病率为36.2％(64例),明显高于轻(11.8％,21例)、中型(13.0％,13例)患者(x2=28.921,17.074;均P＜0.01).多因素Logistic回归分析显示:年龄＞50岁(OR=2.013,95％ CI1.155～3.508,P=0.014)、面神经受累(OR =2.493,95％ CI l.423 ～4.369,P=0.001)及机械通气(OR=12.871,95％ CI5.484～30.207,P=0.001)是GBS患者低钠血症发病风险增加的重要相关因素.而低钠血症(OR=12.770,95％CI3.419 ～47.701,P=0.001)与延髓性麻痹(OR=3.391,95％CI1.182 ～ 9.733,P=0.023)是GBS患者急性期死亡的危险因素.结论 低钠血症作为GBS患者预后不良的重要相关因素,更容易发生于高龄、合并面神经及呼吸肌麻痹的GBS患者.     

中枢性低钠血症临床分析

目的探讨中枢性低钠血症的临床特点。方法回顾性分析28例中枢性低钠血症患者的临床资料。结果 28例患者住院治疗过程中均在原有疾病基础上出现意识状态改变、肢体抽搐及脱水表现;实验室检查：28例患者血钠均〈135mmol/L,尿钠均〉260 mmol/d;18例诊断为抗利尿激素异常分泌综合征（SIADH）,给予限水、利尿治疗;10例诊断为脑性盐耗综合征（CSWS）,给予补液、补钠治疗;数日后所有患者血钠、尿钠基本恢复正常,除2例昏迷外,余病情均有好转。结论低血钠、高尿钠及意识状态改变是中枢性低钠血症的临床特征;SIADH以限水治疗为原则;CSWS则以补液、补钠治疗为原则。     

中枢性低钠血症临床分析

目的探讨中枢性低钠血症的临床特点。方法回顾性分析28例中枢性低钠血症患者的临床资料。结果 28例患者住院治疗过程中均在原有疾病基础上出现意识状态改变、肢体抽搐及脱水表现;实验室检查:28例患者血钠均<135mmol/L,尿钠均>260 mmol/d;18例诊断为抗利尿激素异常分泌综合征(SIADH),给予限水、利尿治疗;10例诊断为脑性盐耗综合征(CSWS),给予补液、补钠治疗;数日后所有患者血钠、尿钠基本恢复正常,除2例昏迷外,余病情均有好转。结论低血钠、高尿钠及意识状态改变是中枢性低钠血症的临床特征;SIADH以限水治疗为原则;CSWS则以补液、补钠治疗为原则。     

脑性耗盐综合征的治疗体会

目的 探讨脑性耗盐综合征的病因、临床类型及治疗方法 .方法 对我科2000-06～2006-06收治的42例中枢性低钠血症的病例进行回顾性分析.结果 脑性耗盐综合征(CSWS)35例,均治愈.血钠最低110mmol/L,症状持续时间平均6.5d(1～9d).结论 脑性耗盐综合征常发生于颅脑肿瘤术后及严重脑外伤的病人,防止严重的神经系统及循环系统并发症要注意严格监测水盐平衡.     

中枢性低钠血症的临床特点

目的探讨中枢性低钠血症的临床特点。方法回顾性分析34例中枢性低钠血症患者的临床资料。结果34例患者均因不同的脑部疾病住院治疗过程中,在原有疾病的基础上出现烦躁、嗜睡、意识障碍加深、呕吐、肢体抽搐及脱水表现;实验室检查:34例患者血钠均<135 mmol/L,尿钠均>260 mmol/d;8例中心静脉压检测,5例低于6 cmH2O。19例诊断为中枢性低钠血症——抗利尿激素不适当分泌综合征(SI-ADH),7例为中枢性低钠血症——脑性盐耗综合征(CSW S),另8例初诊为SIADH,因脱水治疗后症状加重,修正诊断为CSW S。19例SIADH患者给予限水、利尿治疗,15例CSW S患者予以水化、补钠治疗,数日后所有患者血钠、尿钠基本恢复正常,除3例仍昏迷外,31例病情均有好转。结论低血钠、高尿钠及意识状态改变是中枢性低钠血症的临床特征;SIADH以限水治疗为原则,CSW S则以水化和补盐治疗为原则。     

老年人低盐综合征的神经精神障碍

临床资料 本院1984年内科收治65岁以上老年患者252例,其中低盐综合征并发严重神经精神症状5例。低盐综合征诊断标准是血钠低于125mmol/L(125mEq/L),血氯低于95mmol/L(95mEq/L),并排除假性或稀释低钠血症,当低盐综合征纠正后精神症状相继消失。神经精神     

急性重型颅脑损伤后脑性盐耗综合征49例临床分析

目的探讨急性重型颅脑损伤后脑性盐耗综合征（CSWS）的临床特点、诊断和治疗方法。方法回顾性分析49例急性重型颅脑损伤后CSWS患者的临床资料。结果所有患者血清钠均低于130mmol／L,24h尿钠均大于80mmol,L,血浆渗透压小于270mos／L;36例患者血脑钠肽或脑钠肽前体增高。治疗6～22d后,46例患者血钠恢复正常,1例由于放弃治疗而死于低钠血症,2例死于肺部感染。结论低血钠、高尿钠、低血容量、对补充血容量和补钠治疗有效是CSWS的临床特点及诊断依据;及时监测血钠水平并予补钠、补液治疗安全有效。     

Effect of treatment with intravenous immunoglobulin on quality of life in patients with stiff-person syndrome.

The therapeutic effects of intravenous immunoglobulin (IVIG) on the stiff-person syndrome (SPS) have been described exclusively in case reports or open-label studies in terms of clinical outcomes. We investigate whether IVIG improves quality of life (QoL) in the SPS. Six patients with the classic form of SPS completed a generic QoL instrument, the SF-36, and a Visual Analogue Scale (VAS) before treatment as well as 2 weeks after completion of a course of IVIG. There was significant improvement in the SF-36 subscores for pain, social functioning, general mental health, and energy-vitality with treatment. The VAS also improved significantly. We conclude that treatment with IVIG improves QoL in the SPS.     

孤独症和Asperger综合征儿童的心灵理论对照研究

目的探讨孤独症和Asperger综合征(AS)儿童的心理推测能力。方法应用表情识别和虚假信念课题分别对21例高功能孤独症(HFA)儿童、54例AS儿童和70名正常健康儿童进行测试。结果表情识别题中, HFA组通过率明显低于正常组(P<0．01),AS组与正常组无显著差异;虚假信念题通过率为正常儿童组>AS组> HFA组(P<0．01)。结论 HFA和AS儿童基本能识别简单表情,但存在理解虚假信念的缺陷,说明他们的心理推测能力低下。     

Indicators of theory of mind in narrative production: a comparison between individuals with genetic syndromes and typically developing children

It is a matter of debate whether the development of theory of mind (ToM) depends on linguistic development or is, rather, an expression of cognitive development. The study of genetic syndromes, which are characterized by intellectual impairment as well as by different linguistic profiles, may provide useful information with respect to this issue. The present study compares indicators of ToM in the narrative production of individuals with Cornelia de Lange syndrome, Down syndrome, Williams syndrome and typically developing children, matched on sex and mental age. Statistical comparisons of data obtained from a qualitative analysis of the narrative production of the different groups confirm the presence of distinctive patterns, mainly related to the effective use of personal pronouns. The analysis of correlations among story‐telling variables and other cognitive and linguistic variables suggests that the relationship between language development, cognitive development, and the emergence of ToM cannot be reduced to unidirectional causal links.     

血管内支架植入术治疗脑动脉盗血综合征16例疗效观察

目的探讨支架成形术治疗因锁骨下动脉、颈内动脉狭窄导致的脑内盗血综合征的疗效和安全性。方法应用血管内支架植人术对16例经内科药物治疗无效的脑动脉重度狭窄引起的盗血综合征患者进行治疗，其中11例为锁骨下动脉盗血，5例为颈内动脉盗血；术后随访并采用Malek评分法对所有患者进行评价。结果支架植人后即行DSA检查，影像学见7例狭窄血管基本恢复正常，6例狭窄〈10％，3例残余狭窄〈20％，平均随访10个月，其中发生前循环梗死2例，后循环梗死3例。结论支架成形术可有效治疗脑动脉重度狭窄引起的脑内盗血综合征。     

Peripheral neuropathy with predominantly motor manifestations in a patient with carcinoma of the uterus

Summary An autopsy case of a 56-year-old woman who had carcinoma of the corpus uteri and peripheral neuropathy with predominantly motor manifestations is described. The neurological abnormalities included subacute weakness of the limbs and loss of deep reflexes, which improved after the surgical removal of the uterine carcinoma. Neuropathologically, peripheral nerves mainly presented features of axonal degeneration with a mild loss of myelinated fibres. Anterior horns of the spinal cord showed central chromatolysis of the motor nerve cells and many spheroids without neuronal loss. Axonopathy of peripheral nerves was considered to be the main pathological process in this paraneoplastic syndrome.     

抗-Amphiphysin抗体与神经系统副肿瘤综合征的免疫学研究

目的探讨抗神经元突触囊泡Ａｍｐｈｉｐｈｙｓｉｎ抗体（抗Ａｍｐｈｉｐｈｙｓｉｎ抗体）在神经系统副肿瘤综合征（ＰＮＳＮＳ）发病机制中的作用及与癌肿的关系。方法应用免疫印迹技术测定３９０例小细胞肺癌（ＳＣＬＣ）１０３例其他癌肿及１０４例非ＰＮＳＮＳ的神经系统疾病患者血清中抗Ａｍｐｈｉｐｈｙｓｉｎ抗体。结果１１例ＳＣＬＣ患者血清中存在抗Ａｍｐｈｉｐｈｙｓｉｎ抗体，其中８例伴有ＰＮＳＮＳ。抗Ａｍｐｈｉｐｈｙｓｉｎ抗体识别脑神经元提取物中抗原相对分子量分子量１２５万的蛋白带。结论抗Ａｍｐｈｉｐｈｙｓｉｎ抗体是一种与ＰＮＳＮＳ及ＳＣＬＣ有关的神经元自身抗体，检测此种抗体对于ＰＮＳＮＳ及ＳＣＬＣ的临床诊断及治疗有一定的意义     

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome

BackgroundAutism spectrum disorder is a major neurodevelopmental disorder. Temtamy syndrome is a rare syndromic intellectual developmental disorder that presents with global developmental delay, autism, seizures, and agenesis/dysgenesis of the corpus callosum.MethodsWe report a case of a male child who presented with global developmental delay, and autism. Additional clinical features in the child were prominent eyes, long palpebral fissures with eversion of lateral third of the lower eyelid, hypoplastic nipples, and persistent fetal fingertip pads. The clinical features were in favor of Kabuki-like syndrome. MRI brain revealed corpus callosal dysgenesis, mild cerebellar para-vermian, and vermian atrophy.ResultsTrio exome sequencing has revealed a novel pathogenic compound heterozygous variant c.145A >T (p.Lys49Ter) and c.224_242del (p.Val85GlufsTer88) in exon 2 of the C12orf57 gene.ConclusionThis is the first case of Temtamy syndrome reported from India with additional novel phenotypic features not reported previously and broadens the phenotypic spectrum of the disorder. In addition, it expands the spectrum of pathogenic variants in the C12orf57 gene.     

Diagnosis of tachycardia syndromes associated with orthostatic symptoms

The postural tachycardia syndrome (POTS) is characterized by excessive tachycardia only in upright position without evidence of a cardiac or metabolic disease in combination with orthostatic symptoms like dizziness, lightheadedness or syncope but without relevant falls in blood pressure. The cause is unknown. A specific diagnostic marker has not been found so far. Eighteen patients with typical symptoms of POTS were examined. They underwent standard autonomic function tests with continuous measurement of heart rate (HR) and blood pressure. All fulfilled the inclusion criteria of pathologically increased HR activation during passive tiltor standing over 90 seconds. The upper limits of normal were based on data from 137 healthy volunteers between 18 and 85 years of age. Actively standing up induced more POTS-typical HR increases and lead to more consistent results than passive tilt. HR responses during Valsalva manoeuvre and deep breathing were normal in all except one patient each, indicating that assessment of HR during these tests does not contribute to the diagnosis of POTS. Frequency of symptoms reducing overall well-being and the degree of impairment of life quality by symptoms typical of POTS were measured with a self-assessment scale. The majority of patients reported a permanent reduction of overall wellbeing and a relevant impairment of life quality due to dizziness, tachycardia, and syncopes. This underlines the importance of considering POTS as a differential diagnosis of orthostatic syndromes and the necessity of treating it adequately.     

Restless legs syndrome in patients with sequelae of poliomyelitis

BackgroundNo studies have examined the association between RLS and the sequelae of poliomyelitis (PM). We studied the frequency and severity of RLS in a group of consecutive patients with the sequelae of poliomyelitis (PM) and the effect of treatment with dopaminergic drugs.MethodsA diagnosis of RLS was made according to the criteria of the International RLS Study Group, and severity was assessed by the RLS rating scale. Information on sex, age, age at onset, site affected by PM, disease duration of PM, and history of post-polio syndrome (pPS) was obtained in a cohort of 52 PM patients.ResultThe mean age was 55.9 ± 6.5 years; 39 patients had post-polio syndrome (75%). RLS was diagnosed in 21 (40.4%) patients. Sixteen of the 21 patients (76.2%) with RLS had pPS, which was similar to the non-RLS group (74.2% patients with pPS). RLS symptoms were very severe in 5 patients, severe in 13, moderate in 2 and mild in 1. Nineteen of the 21 patients with RLS had symptoms predominantly in the more affected lower limb (90% of patients). Sixteen patients received dopaminergic agonist treatment with a significant reduction in their scores on the RLS severity scale from 28.3 ± 4.7 to 6.9 ± 7.3 (p < 0.001).DiscussionRLS occurs frequently in patients with PM, both in those with and without pPS, and responds well to treatment with dopaminergic drugs.