多发性硬化的临床特点分析

目的探讨多发性硬化(MS)的临床表现特点。方法回顾性分析2007-01—2010-06于我院确诊的68例多发性硬化病例,总结其一般资料、临床表现、病变部位、重要辅助检查及治疗转归等。结果 68例患者中,首发症状以肢体无力(28例,41.2%)最常见;肢体无力、感觉障碍、视觉损害是MS患者最常见的症状;MS好发于青壮年,以急性和亚急性起病为主;视、听、体感诱发电位(VEP、BAEP、SEP)有助于发现亚临床病变;脑脊液(CSF)检查可有异常;磁共振(MRI)检查阳性率高;临床定位以大脑半球、脊髓和视神经受累最多见。糖皮质激素及免疫球蛋白治疗有效。结论根据临床特点,结合神经电生理脑脊液及影像学等检查能大大提高MS的临床确诊率。     

不同发病年龄的多发性硬化临床与实验室对比研究

目的探讨不同发病年龄多发性硬化（ＭＳ）的特点。方法对１８５例多发性硬化按发病年龄分为早发型（２０例）、成年型（１３３例）、晚发型（３２例）。对三型的临床表现、脑脊液、诱发电位、影像学进行对比研究。结果早发型感染诱因较成年型多见，且多以急性、亚急性发病，多以智能障碍、癫痫为首发症状，主要侵及视神经及大脑，ＣＳＦ蛋白增高较成年型为多；晚发型多以慢性起病，运动障碍较多见，脊髓受累较多，体感诱发电位（ＳＥＰ）异常率较高。结论ＭＳ发病年龄不同，其临床症状、病变部位、ＣＳＦ改变及ＳＥＰ异常率存在差异     

视觉,脑干听觉诱发电位对多发性硬化的诊断价值

目的：探讨视觉诱发电位（ＶＥＰ）、听觉诱发电位（ＢＡＥＰ）对多发性硬化（ＭＳ）的诊断价值。方法：对３０例临床诊断为ＭＳ的患者进行ＶＥＰ、ＢＡＥＰ检测,燕与正常对照组进行比较。结果：ＭＳ患者ＶＥＰ和ＢＡＥＰ的异常率分别为７３％和６０％。异常中ＶＥＰ有６８％,ＢＡＥＰ有７８％的患者,临床有相应的症状,ＶＥＯＰ３２％,ＢＡＥＰ２２％的患者临床无相应症状。５例ＭＳ患者要临床缓解期复查ＶＥＯＰ、ＶＡＥＰ、１     

多发性硬化42例临床分析

目的 探讨多发性硬化(MS)的临床特点、诊断和治疗.方法 分析42例多发性硬化患者的一般资料、病变部位、主要症状、重要辅助检查及其治疗方法和效果.结果 42例MS患者中青壮年女性多见,以急性、亚急性起病为主,首发症状以肢体无力最常见,病变部位以脊髓和视神经最常见,实验室检查以脑脊液蛋白水平和IgG指数增高常见.MRI异常率高达85.96%.结论 MS是一种临床表现复杂、累及中枢神经系统白质,多部位、多时相的自身免疫性疾病.根据临床特点、神经电生理、脑脊液免疫学及磁共振成像检查能提高临床确诊率,激素治疗对大多数病人有效.     

以周围神经病变症状起病的多发性硬化15例临床分析

目的探讨以周围神经病变首发的多发性硬化临床特点和发病机制。方法回顾性分析15例首发周围神经病变症状的多发性硬化的临床特点、脑脊液生化常规、电生理检查、头颅或脊髓MRI特点。结果 15例均为首发周围神经病变症状的多发性硬化患者,电生理提示广泛周围神经病损,既有脱髓鞘改变,又有轴突病变,MRI提示均有中枢神经多发性的脱髓鞘病变。结论周围神经病变症状可以为多发性硬化的首发症状。     

中风病人的短潜伏期体感诱发电位与脑电地形图,脑电检查结果对…

本语言对中风病人１３６例进行短潜伏期体感诱发电位检查，其中７５例同时作脑电地形图检查及同步脑电检查，全部病人均作头颅ＣＴ检查，根据临床表现与／或头颅ＣＴ显示的不同部位，将病人组分为８组，分析其ＳＳＥＰ与ＢＥＡＭ的特点。脑干病变多影响Ｐ１４，额叶病变多影响Ｐ２２，丘脑病变多影响Ｎ１６，皮层下病变多影响Ｎ１６、Ｎ１８、Ｎ１９，顶叶病变多影响Ｎ２０、Ｐ４０，异常率为１００％，同时作ＢＥＡＭ结果，异常率为     

多发性硬化的早期诊断(附49例临床分析)

分析了近５年来收治的多发性硬化病人的临床资料，总结出ＭＲＩ对ＭＳ的早期诊断很有价值，并能发现无症状的亚临床病灶。ＥＰ，ＣＴ等可作为辅助检查。对病灶鉴别有困难或辅助检查缺乏时，可结合临床给以激素作诊断性治疗。     

早发型多发性硬化的临床特点

目的总结中国早发型多发性硬化(EOMS)的临床特点。方法从临床、辅助检查等方面对32例EOMS病例进行回顾性分析。结果EOMS好发于10岁后儿童,无性别差异,急性起病为主,首发症状以肢体无力多见,视力、运动和感觉障碍是EOMS患者最常见的症状,可合并周围神经系统损害,诱发电位检查阳性率较高,影像学改变以大脑半球和脊髓受累多见。结论EOMS是多发性硬化的一个亚型,其起病急、症状多样但预后较好,诱发电位和影像学检查对EOMS诊断有一定意义。     

视神经炎与多发性硬化的关系研究

目的为了探讨视神经炎与多发性硬化的关系。方法分析２８例视神经炎患者的头颅磁共振（ＭＲＩ）及体感诱发电位（ＳＥＰ）检查情况。结果（１）头颅ＭＲＩ扫描异常率为３２．１％，病灶呈多发性，主要分布在侧脑室旁、半卵圆中心，长Ｔ２信号，少数合并长Ｔ１信号。（２）ＳＥＰ中枢传导异常率为４２．９％，下肢异常多于上肢，单侧异常多于双侧。（３）发病两次及两次以上，脊髓受累机会增加。结论伴有较多的亚临床损害的视神经炎可能是多发性硬化的一个临床类型     

多发性硬化患者的瞬目反射及听觉诱发电位变化

多发性硬化(multiplesclerosis,MS)是以中枢神经系统白质脱髓鞘病变为特点的自身免疫性疾病。目前对该病的诊断主要系依据临床、影像学和电生理学检查以及脑脊液检查。电生理学检查在确定多发性硬化病灶方面的作用日益受到重视。为此,我们对52例多发性硬化患者的瞬目反射(blinkreflex,BR)及脑干听觉诱发电位(brainstemauditoryevokedpotential,BAEP)进行了分析,目的在于探讨BR及BAEP在确定多发性硬化脑干病灶中的作用以及临床意义。资料与方法一、一般资料52例多发性硬化患者均为2000年3月～2002年6月我院门诊及住院患者,男20例,女32…     

Autism,ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome

This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens.Autism spectrum disorders (ASDs) and/or attention deficit/hyperactivity disorder (ADHD) were diagnosed in 44 cases. ASD was diagnosed in 23 cases of whom only 5 had autistic disorder. ADHD was diagnosed in 30 individuals. In nine of these cases with ASD or ADHD there was a combination of these diagnoses. Mental retardation (MR) with or without ASD/ADHD was diagnosed in 51 individuals. ASD, ADHD, and/or MR were present in 67 cases. Females had higher IQ than males.The results of this study showed that the vast majority of all individuals with 22q11 deletion syndrome have behavior and/or learning problems and more than 40% meet criteria for either ASD, ADHD or both. Neuropsychiatric and neuropsychological evaluations are indicated as parts of the routine clinical assessment of individuals with 22q11 deletion syndrome.     

Adrenomyeloneuropathy: clinical, genetic and morphologic features. Apropos of 5 cases

The authors describe five cases of adrenomyeloneuropathy, an adult form of adrenoleukodystrophy. Three of the cases were related. The clinical picture comprises progressive spasmodic paraplegia, sphincter disorders, peripheral neuropathy, sometimes hollow foot and posterior columns disorders. In one case psychic disorders were observed. Biochemical analyses confirmed or revealed adrenal insufficiency in four cases and gonadal insufficiency in three cases. A detailed genealogical study was made in two patients belonging to the same family. Histocompatibility tests revealed the presence of A2 and B15 antigens in three cases. Diagnosis was confirmed in three cases by plasma determination of long-chain fatty acids, with an increase in the level of C26 acids and the C26/C22 ratio; biopsy of the peripheral nerve in one patient revealed inclusions characteristic of Schwann's cells. Symptomatological links between ALD and familial spasmodic paraplegia, the mode of genetic transmission of the disease, the contribution of neuromuscular biopsy to the diagnosis and the therapeutic prospects of a diet low in long-chain fatty acids are discussed.     

Spectrum of neuropsychiatric features associated with velocardiofacial syndrome (Deletion 22q11.2)

Microdeletion 22q11.2 (22q11DS) is the most frequent chromosomal deletion known in man. Velocardiofacial syndrome is one of numerous clinical syndromes that can be attributed to this micro deletion. There is an increasing recognition of associations with neuropsychiatric disorders. Particularly, schizophrenic psychosis, attention-deficit/hyperactivity disorder (ADHD), intellectual impairment and learning disabilities, seizures and motoric abnormalities have been identified in patients with 22q11DS. Recent studies supported the association of schizophrenia and 22q11DS, but the pathogenetic implications for idiopathic schizophrenia are still controversial. We report on two clinical cases in which psychotic symptoms led to the molecularcytogenetic diagnosis of microdeletion 22q11.2. Additionally, this article gives a systematic review of literature regarding psychiatric disorders, neurologic symptoms and partly corresponding morphological brain abnormalities in 22q11 deletion syndromes.     

不同精神疾病社会功能量表的比较研究

目的比较不同精神疾病社会功能恢复的差异。方法采用"住院精神病人社会功能评定量表(SSFPI)"于入院后第二、六周分别对123例精神分裂症、35例酒精所致精神障碍、31例情感障碍、22例应激障碍和22例器质性精神障碍患者进行评定,比较总分和因子分。结果入院后第二、六周器质性精神障碍患者的SSFPI各因子及总分低于其它四组(P0.01),精神分裂症患者的SSFPI总分和日常生活自理能力分低于应激障碍、酒精所致精神障碍和情感障碍患者(P0.05)。结论器质性精神障碍患者社会功能最差,其次是精神分裂症。     

The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility

We describe the results of a retrospective study of floppy infants evaluated at the Children's Hospital of Winnipeg, a tertiary care children's facility. Cases were ascertained by a systematic search of clinical databases, hospital and electromyographic records for "floppy" infants age < 1 year, referred over a period of 11 years (1990-2000). Eighty-nine infants, 42 female (47.2%) and 47 male (52.8%), were included in the study. A definitive diagnosis was established in 60 (67.4%) cases, in 24 cases (40%) on purely clinical grounds, whereas in 36 (60%) cases, additional investigations were necessary. Karyotype, molecular diagnostics, cranial imaging, and muscle and skin biopsy provided diagnostic information. Genetic disorders in 18 of 60 (20.2%), congenital or acquired disorders of the central nervous system in 22 of 60 (24.7%), and disorders of the lower motor unit in 9 of 60 (10.1%) contributed to the majority of diagnoses. Eight of 89 (8.9%) infants died in the first year, and 2 of 89 (2.6%) were on home ventilation. Of the 61 infants surviving beyond 12 months, 38 of 61 (62.3%) were found to be globally delayed, and only 30 of 61 (49.2%) achieved independent ambulation at their last clinical evaluation. Systematic evaluation of a floppy infant followed by careful selection of investigations (karyotype, DNA-based diagnostic tests, and cranial imaging) can maximize diagnostic yield.     

寰枕畸形伴发脊髓型颈椎病患者一期手术治疗的临床效果评价

目的 根据寰枕畸形伴发脊髓型颈椎病患者的不同临床特征、影像学特点采取不同手术方式组合对颈脊髓进行减压,并评价探讨其疗效和预后.方法 北京大学第三医院自2002年1月至2007年7月共收治22例寰枕畸形伴发脊髓型颈椎病患者,在了解患者首发症状及病程演变情况后,以日本矫形外科学会(JOA)评分系统对手术前后体征进行分析比较,常规行X片、CT、MRI等影像学检查.一期以不同术式组合(枕颈减压、枕大池成形3例,枕颁减压、枕大池成形和空洞穿刺引流1例,枕颈减压、单开门椎管扩大成形5例,枕颈减压、局限性单侧椎板切除减压1例,枕颈减压、钛板内固定1例,枕颈减压+颈前路间盘摘除、植骨、钛板内固定1例,枕颈减压、枕大池成形+单开门椎管扩大成形3例,枕颈减压、枕大池成形+局限性单侧椎板切除减压4例,枕颈减压、枕大池成形和空洞穿刺引流+局限性单侧椎板切除减压3例)对两种病变造成的颈脊髓等神经系统压迫进行允分减压.术后全部患者均随访调查,并以改善、稳定、进展时患者术后中期状况进行评价.结果 术后效果优6例(手术前后JOA分值差≥2),好13例(JOA分值差=1),一般3例(JOA分值差为0).随访2～48月,进一步改善20例,稳定2例.结论 根据不同临床表现、体征和影像学特点,采取不同术式组合一期手术治疗寰枕畸形伴发脊髓型颈椎病可获良好的治疗效果.     

Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome)

Velocardiofacial syndrome, now known as 22q11.2 deletion syndrome (22qDS), is estimated to affect more than 700 children born in the United States each year. Some clinical studies have found increased rates of schizophrenia in adults with 22qDS. However, these studies have been limited by small sample size and possible ascertainment bias. The psychiatric disorders most commonly reported in children and adolescents with 22qDS have been attention-deficit/hyperactivity disorder, oppositional defiant disorder, anxiety disorders, and major depression. Psychotic symptoms have been observed in 14% to 28% of children with 22qDS, but their clinical significance remains uncertain. A 5-year follow-up study of 22qDS children who reported psychotic symptoms at baseline found they had an increased risk for a subsequent psychotic disorder. Thus, a broad differential diagnosis should be considered when 22qDS children present with psychotic symptoms. Longitudinal studies are needed to better understand the full extent of the psychopathology associated with 22qDS.     

Defects of mitochondrial beta-oxidation: a growing group of disorders.

Two disorders of fatty acid metabolism were described in 1973. Since then, at least 22 different inborn errors of metabolism affecting beta-oxidation in skeletal muscle and other tissues have been identified. Neurological findings are prominent in many of these, including hypotonia, myopathy (often with lipid storage), and peripheral neuropathy. Recurrent rhabdomyolysis and hypoglycemia are frequent clinical problems. In many cases, a correct diagnosis will only be made if these disorders are specifically considered and appropriate tests are obtained, since screening tests which detect other inborn errors of metabolism are often normal in patients with beta-oxidation defects under many circumstances. Clinical symptoms, diagnostic testing, and issues of newborn screening for this important group of disorders are discussed.     

Acute nuptial psychosis: apropos of 16 cases

The marriage, an over-invested social event in our Maghrebin cultural context, can, in certain cases, generate major psychiatric disorders especially of psychotic types. The aim of our study is to describe the clinical specifications of these psychotic disorders and to discuss the surroundings and individuals factors incriminated in their genesis. Our retrospective study concerns sixteen patients suffering from acute psychotic disorders precipitated by marriage. Male subjects represented 75% of cases with an average age of 26.8 years. 62.5% of them have no psychiatric background. The disorders first appeared after the marriage in 75% of cases, often during the first week. 68% of cases have delirious syndrome. Schizophreniform and brief psychotic disorders were often reported. The importance of the cultural factors was particularly prominent in the starting of these disorders.     

Psychiatric disorders in people with 22q11.2 Deletion Syndrome: A population‐based prevalence study in Ireland

Background : 22q11.2 Deletion Syndrome (22q11.2 DS) is a common micro‐deletion syndrome associated with intellectual disability, brain abnormalities and a complex spectrum of psychiatric disorders in both adults and children. Many previous studies have shown that adults with 22q11.2 DS have approximately thirty times greater risk for the developing schizophrenia compared to the general population. Furthermore, studies of children and adolescents with 22q11.2 DS have found high rates of psychotic symptoms, ADHD and anxiety disorders. In this study we initially aim to characterize the psychiatric and neuropsychological phenotype of all individuals in Ireland with 22q11.2 DS and then correlate our findings with genetic association studies and brain imaging. We then intend to undertake a longitudinal study to assess for risk factors of future psychotic illness. Methods : Forty‐four individuals with 22q11.2 DS (Mean age = 14 years, SD = 9) were compared to 25 non‐affected sibling controls (Mean age = 12 years, SD = 4). Psychiatric phenotype assessment was performed using a range of standardized clinical assessments including, the Diagnostic Interview Schedule for Children (DISC), Psychotic Supplement of K‐SADS, Comprehensive Assessment of At Risk Mental State (CAARMS), the Schedule for Clinical Assessment in Neuropsychiatry (SCAN), Child Behaviour Checklist (CBCL) and the Social Communication Questionnaire (SCQ). Results : Preliminary data indicates that individuals in the 22q11.2 DS group have a higher prevalence of psychiatric disorders including; ADHD (41%), psychotic symptoms (19%), schizophrenia (2.7%), specific phobias (38%), depressive episodes (11%), and anxiety disorders (32%). Conclusion : This is the first stage in a longitudinal follow‐up study of individuals with 22q11.2DS in Ireland. Our preliminary results are consistent with previous findings of high rates of psychiatric disorders in people with 22q11.2DS. The challenge remains to identify precursor symptoms in childhood that predicts the later development of psychiatric disorders, particularly schizophrenia in this vulnerable group.