肝豆状核变性的临床表现分析

肝豆状核变性系常染色体隐性遗传的铜代谢障碍所致的家族性变性病 ,其临床表现复杂多样。本文通过随机选择 5 0例肝豆状核变性患者病例 ,针对其临床表现作一回顾性分析 ,为临床早期诊断肝豆状核变性提供更多的临床依据 ,减少误诊率。     

脑型肝豆状核变性临床特征与MRI分析(附12例报告)

目的:探讨肝豆状核变性的临床特点与头颅MRI特征,为早期诊断及治疗提供参考。方法:回顾性归纳分析12例肝豆状核变性患者的临床表现及神经影像学特点。结果:平均发病年龄23.5岁;以锥体外系症状为首发10例;性格改变1例;学习成绩下降1例,K-F环均为阳性;头颅MRI特征为对称性基底节区、丘脑、中脑及桥脑异常信号。结论:肝豆状核变性临床表现多样,血清铜蓝蛋白检测、角膜K-F环及头颅MRI检查对诊断本病有重要意义。     

肝豆状核变性并发突发性耳聋2例分析

目的:探讨肝豆状核变性和突发性耳聋的相关性。方法:对2例住院治疗的肝豆状核变性合并突发性耳聋患者临床资料进行分析。结果:2例肝豆状核变性患者临床铜代谢异常、电测听提示为神经性耳聋,头颅MRI检查排除桥小脑角病变,临床确诊为肝豆状核变性和突发性耳聋。2例患者均在驱铜治疗的同时予以改善内耳循环、营养神经和激素治疗。1例患者获得临床痊愈,1例患者听力改善。结论:肝豆状核变性患者合并突发性耳聋临床尚未见报道,两者相关性尚不明确;突发性耳聋的治疗时机尤为重要,早期诊断和早期治疗可以获得临床痊愈。     

肝豆状核变性23例临床分析

目的 总结肝豆状核变性的临床特点,以减少误诊、漏诊.方法 回顾性分析23例肝豆状核变性患者的临床表现及诊治过程.结果 平均发病年龄21.5岁,首发症状以神经系统和肝损害症状为主,分别占69.6%(16/23)及26.1%(6/23),其中神经系统症状以肢体震颤、精神异常多见;18例患者临床分型为混合型,占78.3%(18/23),5例为脑型;所有患者均出现角膜色素环(K-F环);所有患者进行了铜代谢的实验室检查,血浆铜蓝蛋白水平降低及24 h尿铜增高常见.青霉胺与硫酸锌联合治疗对78.3%(18/23)的患者有效.结论 肝豆状核变性青少年多发,以神经系统和肝损害症状为主要表现,K-F环阳性率高.青霉胺与硫酸锌联合治疗对大部分肝豆状核变性患者有效.     

肝豆状核变性18例临床分析

目的分析肝豆状核变性患者的临床资料,提高对该病的认识。方法对郑州大学第二附属医院2005-01~2010-12收治的18例肝豆状核变性患者的临床资料进行回顾性分析,应用SPSS10.0统计分析软件进行统计分析,数据分析采用Fisher确切概率法,K-W检验和t检验。结果 18例患者中,肝型6例,神经型3例,肝神经型9例;K-F环阳性率为88.2%;血清铜蓝蛋白均降低;73.3%患者24 h尿铜升高;K-F环阳性率、铜蓝蛋白、24 h尿铜在不同临床类型中的差异无统计学意义。8例患者腹部彩超异常,2例头颅CT异常,8例患者头颅MRI异常。14例应用青霉胺驱铜治疗,12例症状得到不同程度缓解。结论肝豆状核变性临床表现复杂多样,差异很大,应提高对肝豆状核变性的认识,以早期诊断、治疗本病。     

32例肝豆状核变性临床分析

目的分析肝豆状核变性患者临床资料,提高对此病认识。方法回顾分析1994年~2004年本院收治的32例肝豆状核变性患者临床资料。结果该病从发病到确诊时间中位数4.8年,临床表现以肝损害为主13例,以神经系统损害为主11例,二者兼有8例,角膜K-F环阳性28例,血铜蓝蛋白降低30例,头颅CT阳性发现11例。结论该病从发病到确诊时间长,临床表现可以肝损害为主或以神经系统损害为主或二者兼有,血铜蓝蛋白测定、K-F环检查和头颅CT检查对诊断具重要意义。     

肝豆状核变性58例临床特点与CT、MRI分析

目的分析肝豆状核变性的临床特点和CT、MRI表现特征及二者间的关系,以提高临床医生对该病的警惕性,避免误诊.方法回顾分析58例肝豆状核变性的临床表现,相关血生化指标,脑CT和MRI检查情况及误诊情况.结果58例中内脏型29例,脑型18例,混合型11例.K-F环阳性率87.9%.血清铜均提示铜代谢障碍.脑CT阳性率56.2%,脑MRI阳性率82.1%.早期误诊率93.1%,误诊病种多样,误诊时间半月～32年不等,早期确诊预后较好.结论肝豆状核变性临床表现复杂,尤其对儿童不明原因的肝损害、锥体外系病征者应及时作K-F环、CP及脑CT和MRI等检查,早诊早治,改善预后.     

肝豆状核变性56例临床分析

目的回顾分析肝豆状核变性患者临床资料,总结其临床特点。方法回顾分析1994-01～2011-01本院收治的56例肝豆状核变性患者临床资料。结果该病从发病到确诊时间中位数2.6 a;临床表现以肝损害为主26例,以神经系统损害为主16例,二者兼有14例;角膜K-F环阳性42例,血铜蓝蛋白降低52例,头颅CT或MRI阳性31例。结论该病从发病到确诊时间长。临床表现主要以肝损害为主或以神经系统损害为主或二者兼有,血铜蓝蛋白测定、K-F环检查、头颅CT和MRI检查对诊断具有重要意义。     

肝豆状核变性58例临床特点与CT、MRI分析

目的分析肝豆状核变性的临床特点和CT、MRI表现特征及二者间的关系，以提高临床医生对该病的警惕性，避免误诊。方法回顾分析58例肝豆状核变性的临床表现，相关血生化指标，脑CT和MRI检查情况及误诊情况。结果58例中内脏型29例，脑型18例，混合型11例。K—F环阳性率87．9％。血清铜均提示铜代谢障碍。脑CT阳性率56．2％，脑MRI阳性率82．1％。早期误诊率93.1％，误诊病种多样，误诊时间半月～32年不等，早期确诊预后较好。结论肝豆状核变性临床表现复杂，尤其对儿童不明原因的肝损害、锥体外系病征者应及时作K—F环、CP及脑CT和MRI等检查，早诊早治，改善预后。     

肝豆状核变性37例临床分析

目的探讨肝豆状核变性的临床特点.方法回顾分析37例肝豆状核变性患者的临床表现.结果发病年龄6 ～ 46岁,平均年龄15.7岁.37例患者中脑型22例,内脏型8例,混合型6例,骨-肌型1例.首发症状为神经精神异常者25例,肝肾损害11例,其他2例.K-F环阳性36例,血清铜及铜蓝蛋白均降低,尿铜增加,尿隐血和(或)尿蛋白阳性12例.B超检查37例为肝损图像,其中有肝硬化脾肿大20例.头颅CT显示双侧尾状核、豆状核低密度灶31例,CT阴性6例中有3例MRI阳性.结论肝豆状核变性多见于青少年发病,以神经精神及肝肾损害表现为主,B超肝脾检查及头颅CT阳性高.     

首发肝损害的肝豆状核变性临床分析及治疗

本文分析了２２例以肝损害为首发症状的肝豆状核变性患者的临床特征，误诊情况治疗效果，提示该型患者因起病急，早期误诊率高、常延误治疗，预后较差，强调早期诊断，早期治疗及终身治疗的必要性。     

肝豆状核变性132例颅脑MRI扫描分析

目的观察肝豆状核变性（hepatolenticular degeneration,HLD）患者颅脑MRI扫描的脑损害特征。方法对我院2003年9月～2005年3月收治的132例HLD患者，人院后在未驱铜治疗前进行颅脑MRI检查，并予统计分析。结果132例HLD的颅脑MRI均有下列一项或一项以上异常改变：壳核异常115例（87．1％），脑干异常53例（40．1％），丘脑异常44例（33．3％）等。结论这些颅脑MRI异常大都与临床表现相符，MRI的异常表现对HLD的早期诊断及预后均具有重要意义。     

Hepatolenticular degeneration. Apropos of 102 cases

The author reports the clinical and laboratory findings in 102 patients of hepatolenticular degeneration (HLD) followed up in the Department of Neurology, University of S?o Paulo Medical School, since 1946. The problem of the early diagnosis of the relatives is analysed, the pathology of Wilson's disease is reviewed, and the relationship of HLD with other hepatocerebral diseases is examined. Etiopathogenesis is discussed according to current researches, the role of the decreased biliary copper excretion being emphasized. The results of treatment with D-penicillamine in 84 cases are commented.     

Acquired hepatocerebral degeneration and hepatic encephalopathy: correlations and variety of clinical presentations in overt and subclinical liver disease

Acquired hepatocerebral degeneration (AHD) and hepatolenticular degeneration can have similar clinical presentations, but when a chronic liver disease and atypical motor findings coexist, the distinction between AHD and hepatic encephalopathy (HE) can be even more complicated. We describe three cases of AHD (two having HE) with different neuroimaging findings, distinct hepatic diseases and similar motor presentations, all presenting chronic arterial hypertension and weight loss before the disease manifestations. The diagnosis and physiopathology are commented upon and compared with previous reports. In conclusion, there are many correlations among HE, hepatolenticular degeneration and AHD, but the overlapping of AHD and HE could be more common depending on the clinical knowledge and diagnostic criteria adopted for each condition. Since AHD is not considered a priority that affects the liver transplant list, the prognosis in AHD patients remains poor, and flow interruption in portosystemic shunts must always be taken into account.     

Wilson's disease associated with delusional disorder

Wilson's disease (WD), or hepatolenticular degeneration, is a genetic neurodegenerative disorder of copper metabolism. It is an uncommon medical condition that produces psychiatric symptoms during the early phase in approximately 50% of patients. Reported herein is a case of WD in a young man presenting persistent delusional disorder of organic etiology, which resolved entirely after 4 months of combined pharmacotherapy. The present case demonstrates the importance of considering the occurrence of psychotic symptoms in WD patients given that psychiatric manifestations in WD are known to be uncommon as well as inhomogeneous. It also supports the hypothesis that psychopathologic features in WD have an organic foundation.     

Klassifikation des Morbus Wilson auf der Basis neurophysiologischer Parameter

In addition to hepatolenticular degeneration in Wilson's disease, sensory and extrapyramidal motoric systems are also disturbed. In this study a classification on the basis of neurophysiological parameters (EAEP, VEP, MSEP, TSEP and MEP) was established according to subclinical disturbances of these pathways in patients with Wilson's disease on long-term treatment. A cluster analysis of latencies of these evoked potentials was performed. The results of cluster analysis revealed three types of electrophysiological profiles: type I with normal latencies and types II and III showing different patterns of prolonged latencies. However, there was no correlation between clinical classification and the results of cluster analysis based on the electrophysiological data. The neurophysiological based classification provides additional information about central manifestations and aids in characterizing the progress of the disease.     

神经系统副肿瘤综合征34例临床特点分析

目的:分析34例神经系统副肿瘤综合征患者的临床特点。方法:对1990年至2005年收治的34例神经系统副肿瘤综合征患者的临床资料进行回顾性分析。结果:副肿瘤综合征的临床类型有周围神经病15例、Lambert-Eaton肌无力综合征5例、多发性肌炎和皮肌炎3例、进行性小脑变性2例、运动神经元病3例、进行性多灶性白质脑病1例、亚急性坏死性脊髓病1例、脑干脑炎2例、边缘系统脑炎2例。结论:神经系统副肿瘤综合征临床表现形式多样,容易误诊,临床早期确诊对于隐匿肿瘤的发现和治疗非常重要。