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。     

肝豆状核变性一例

目的探讨肝豆状核变性(HLD)临床表现、头颅磁共振成像(MRI)改变及与相关疾病的鉴别。方法分析1例HLD患者的临床资料、实验室检测、影像学资料及文献复习。结果 HLD表现多种临床症状,铜蓝蛋白0.02g·L~(~(-1)),24h尿铜3.34μg·24h~(~(-1)),角膜色素环(K-F环)阳性,并有头颅MRI改变。结论除临床表现和实验室检测外,头颅MRI特异性的改变对HLD的诊断有一定的提示作用。     

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.     

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.     

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.     

延迟诊断的肝豆状核变性疾病(附二例病例报告)

目的 为加强对肝豆状核变性疾病的认识并提高其诊断正确性。方法 对遗传特点、起病首发症状及临床表现、头颅MRI特点进行分析和探讨。结果 所报告的2例患者均无家族遗传病史。第一例首发症状为手颤及精神症状，因精神症状比较突出最初被诊断为“精神性疾病”，经抗精神治疗达1年之久方被确诊；第二例首发症状为进行性智能障碍及神经系统症状．因头颅MRI特殊表现开始曾被诊断为“胶质瘤”、“脑囊虫病”、“多发性硬化”近1年．后通过创伤性脑活检才被确诊为肝豆状核变性疾病。结论 该病之所以被延迟诊断主要因首发症状及临床表现的多样性、头颅MRI改变多样化、无家族遗传病史以及医生缺乏对此病的认识等多种因素所致。     

以精神行为异常起病的肝豆状核变性临床分析及文献复习

目的 探讨肝豆状核变性(Wilson disease, WD)患者的临床及影像学特点、诊治、预后。方法 分析1例以精神行为异常起病的肝豆状核变性患者的临床资料。结果 患者16岁起病,起病时表现为自语、自笑、发呆,未引起家人重视,直至22岁方首次诊治,头部MRI示脑萎缩和双侧丘脑、脑干、小脑、桥臂、壳核T₂高信号,裂隙灯下K-F环阳性,血铜蓝蛋白<3 mg/dl,基因检测示ATP7B基因变异。结论 精神、情感、认知障碍起病,伴颅内对称性病变,同时合并全身多系统受损时,应想到WD可能。K-F环及铜蓝蛋白、基因检测有助于早期诊断、指导治疗。     

Zinc in the treatment of hepatolenticular degeneration: report of 3 cases]

Three patients with symptoms and signs of hepatolenticular degeneration (HLD) who developed serious renal side effects of D-penicillamine (DP) had their therapeutic schedule changed to zinc. Patient 1, a 55 year-old man had been well until 12 years old, when skeletal changes (osteomalacia) due to tubular renal disturbance began. His diagnosis of HLD had first been established at age of 32 when he presented with "wing-beat" tremor. He was then begun on DP and his neurological symptoms resolved within one year of initiating therapy but skeletal abnormalities remained unchanged as a sequel. During the next 22 years the patient was continued on DP therapy but with poor compliance. Then the reappearance of his neurological manifestations occurred several times. By the age of 53, after one year without therapy, his neurological status has worse. DP was reinstituted but some weeks later his renal laboratory parameters became severely affected. DP was discontinued and zinc sulfate (220 mg three times daily) was introduced. On this therapeutic regimen his renal laboratory parameters returned to previous level after one month. Within one year on this therapeutic regimen neurological manifestations were resolved. After 31 months on zinc treatment he remains neurologically asymptomatic and his renal function is satisfactory. Patient 2, a 41 year old woman had been her diagnosis of HLD at age of 20, when following the diagnosis of the disease in her old brother, she was found to have the laboratory features of HLD and bilateral Kayser-Fleischer rings. DP treatment was recommended at that time but she quit the follow-up. When she was 23, an esophageal variceal bleeding occurred.(ABSTRACT TRUNCATED AT 250 WORDS)     

Hypersomnia in Wilson's disease: an unusual symptom in an unusual case

Wilson's disease (WD) shows a wide heterogeneity in symptoms. In this case report we present hypersomnia as a symptom of WD. The male patient's complaints as fatigue, decreased level of concentration, and highly increased demand of sleeping started at his age of 21 years. No abnormality was found at physical examination. A moderate elevation in liver function tests was found, but all the other laboratory findings were within the normal range. The marked hypersomnia was verified by 24-h cassette EEG polisomnographic monitoring. No abnormality was found at physical examination. EEG, brain CT and MRI were normal. Neither toxic nor infectious disease was detectable. The diagnosis of WD was based on decreased coeruloplasmin level, increased baseline and forced urinary excretion of copper, and decreased level of serum copper. Kayser-Fleischer ring was not detectable. D-penicillamine (DPA) was introduced. At 8-10 months after the initiation of the therapy the patient's complaints gradually resolved. The control sleep record 14 months after the initiation of the DPA therapy was normal. Five years later the patient is currently on penicillamine treatment and he is free of any symptom.     

Retrospective case-analysis of the magnetic resonance imaging characteristics in the brain of patients with Wilson disease

BACKGROUND:Wilson disease (WD)damages liver,brain,kidney,cornea and nervous system severely.It is manifested in four ways:brain,liver,kidney and bone muscle.Whether or not magnetic resonance imagling (MRI)can clearly display the diseased region and range in brain of patient with WD,which provides imageological evidence for clinical practice,is unclear.OBJECTIVE:To observe the charactedstics of MRI of brain in patient with SD,and analyze the correlation of diseased region with clinical symptoms.DESIGN:Retrospective case-analysis.SETTING:Department of Radiology,Second Hospital Affiliated to the General Hospital of Chinese PLA.PARTICIPANTS:Thirty-one patients,including 18 males and 13 females,with WD admitted to the Department of Neurology,Second Hospital Affiliated to the General Hospital of Chinese PLA between January 1999and December 2005 were retrieved.The involved patients presented serum copper oxidase (sCP) activity decreasling and/or caruloplasmin Ievel decreasling and/or urinary copper content increasling;typical extrapyramidal symptoms and/or physical sign;abnormality showed by slit-lamp examination,Kayser-Fleischer rling positive.METHODS:①All the involved patients underwent MRI examination.A GE 1.5T imagling equipment was used.Spin-echo sequence was adopted to perform T2 and T1-weighed image at transverse axis level.Partial cases subjected to head scannling at coronal and/or sagittal level.Gd-DTPA With dosage of 0.1 mmol/kg was the strongest in 4 cases.②MRI characteristics of patients with dliferent clinical symptoms were observed.MAIN OUTCOME MEASURES:MRI detection results of patients with WD and MRI characteristics of patients with different clinical symptoms.RESULTS:Thirty-one patients with WD participated in the result analysis.①Imageological examination results:WD lnvolved many regions in the brain:dorsal caudate putamen(n=28),thalamencephalon(n=25),mesencaphalon(n=25),globus pallidus(n=23),pons(n=21),posterlor limb of intemal capsule(n=16),dentate nucleus(n=16),caudata nucleus(n=15)and cerebral cortex(n=11).MRI presented hypo-intensity signal on T2-weighted image and T1-weighted image or isointensity signal on T1-weighted image in 24 patients,characteristic hypo-intensity signal of globus pallidus in 4 patients,mixed signal of hyper-and hypo-intensity in 2 patients,hypo-intensity signal of globus pallidus,pars anterior pedunculi carebd and pontine tegmentum on T1-weighted image in 1 patient.Pathological changes distdbuted in symmetry and focus of infection mostly presented mottling,lamellar or strip.Different degrses of cerebral cortex atrophy,especially subtentodal cerebellar atrophy,ware found in 20 patients.Four patients subjected to enhancement scannling,but no clear imaqling was found.③MRI characteristics of patients with different symptoms:Abnormal signal of dorsal caudate putamen was found in 28 patients with dystonia,21 patients with dysarthda and 16 patients with bradykinesia;Abnormal signal of mesencaphalon was found in 22 patients with trepidation,among which,18 presented abnormal signal of pons;Abnormal signal of caudate nucleus and lenticular nucleus was found in 15 patients with dysphagia;Abnormal signal of dentate nucleus was found in 16 patients with carebellar ataxia;Different degrees of changes in cerebral atrophy were found in 14 patients with detedoratling memory and dementia.CONCLUSION:MRI can clearly display the characteristics of diseased regions in brain of patient with WD.Diseased regions reflected by MRI have obvious differences in patients with different clinical neurosigns.     

奴卡氏菌性脑脓肿的临床特点(附1例报告)

目的探讨奴卡氏菌性脑脓肿的临床特点。方法回顾性分析1例奴卡氏菌性脑脓肿患者的临床资料。结果本例患者急性起病,以发现右肩肿块后继发头痛、左侧肢体无力为主要症状。既往有"特发性血小板减少性紫癜"病史,长期口服激素、免疫抑制剂治疗。头颅MRI示右侧脑干及左侧顶叶可见圆形占位;增强后呈环形强化。右肩肿块穿刺脓液培养示奴卡氏菌。结论奴卡氏菌性脑脓肿患者死亡率高,要重视病原学诊断与长期特异性抗感染治疗,必要时需结合手术治疗。     

肝豆状核变性的早期临床表现及误诊分析

目的:探讨肝豆状核变性(wilson’s disease WD)的早期临床表现及早期诊断,旨在提高临床医生对本病的 认识,减少误诊。方法:回顾性分析50例WD病的早期临床表现、实验室及特殊检查、首次误诊情况。结果:50例患者 中,神经、精神异常者35例,肝炎、肝硬化13例,伴消化道出血2例。关节痛2例。K-F环阳性49例。血清铜蓝蛋白、血 清铜均降低。误诊最常见的依次为各种类型肝炎、肝硬化、精神疾患、关节炎、脱髓鞘脑病、胶质瘤、肌营养不良、肾炎、癫 痫、贫血、消化道大出血和Leigh、脊髓病等,误诊率达34％。结论:WD多见于青少年,神经系统及肝损害为主要临床表 现,常伴有肾脏损害,K-F角膜环是重要阳性体征,头颅CT或MRI可作为辅助诊断手段。本病易被长期误诊或诊断不 明,早期治疗对预后至关重要。建议对具有上述易被误诊疾病症状的患者常规行角膜K-F环及铜代谢检查,以免误诊误 治。     

A voxel‐based asymmetry study of the relationship between hemispheric asymmetry and language dominance in Wada tested patients

Determining the anatomical basis of hemispheric language dominance (HLD) remains an important scientific endeavor. The Wada test remains the gold standard test for HLD and provides a unique opportunity to determine the relationship between HLD and hemispheric structural asymmetries on MRI. In this study, we applied a whole‐brain voxel‐based asymmetry (VBA) approach to determine the relationship between interhemispheric structural asymmetries and HLD in a large consecutive sample of Wada tested patients. Of 135 patients, 114 (84.4%) had left HLD, 10 (7.4%) right HLD, and 11 (8.2%) bilateral language representation. Fifty‐four controls were also studied. Right‐handed controls and right‐handed patients with left HLD had comparable structural brain asymmetries in cortical, subcortical, and cerebellar regions that have previously been documented in healthy people. However, these patients and controls differed in structural asymmetry of the mesial temporal lobe and a circumscribed region in the superior temporal gyrus, suggesting that only asymmetries of these regions were due to brain alterations caused by epilepsy. Additional comparisons between patients with left and right HLD, matched for type and location of epilepsy, revealed that structural asymmetries of insula, pars triangularis, inferior temporal gyrus, orbitofrontal cortex, ventral temporo‐occipital cortex, mesial somatosensory cortex, and mesial cerebellum were significantly associated with the side of HLD. Patients with right HLD and bilateral language representation were significantly less right‐handed. These results suggest that structural asymmetries of an insular‐fronto‐temporal network may be related to HLD.     

Brain abnormalities in neuromyelitis optica

BACKGROUND: Neuromyelitis optica (NMO) is a severe demyelinating disease defined principally by its tendency to selectively affect optic nerves and the spinal cord causing recurrent attacks of blindness and paralysis. Contemporary diagnostic criteria require absence of clinical disease outside the optic nerve or spinal cord. We have, however, frequently encountered patients with a well-established diagnosis of NMO in whom either asymptomatic or symptomatic brain lesions develop suggesting that the diagnostic criteria for NMO should be revised. OBJECTIVE: To describe the magnetic resonance image (MRI) brain findings in NMO. DESIGN: Observational, retrospective case series.Patients We ascertained patients through a clinical biospecimens database of individuals with definite or suspected NMO. We included patients who (1) satisfied the 1999 criteria of Wingerchuk et al for NMO except for the absolute criterion of lacking symptoms beyond the optic nerve and spinal cord and the supportive criterion of having a normal brain MRI at onset; (2) had MRI evidence of a spinal cord lesion extending 3 vertebral segments or more (the most specific nonserological feature to differentiate NMO from MS); and (3) were evaluated neurologically and by brain MRI at the Mayo Clinic. MAIN OUTCOME MEASURES: Magnetic resonance images were classified as normal or as abnormal with either nonspecific, multiple sclerosis-like or atypical abnormalities. We evaluated whether brain lesions were symptomatic and analyzed the neuropathologic features of a single brain biopsy specimen. RESULTS: Sixty patients (53 women [88%]) fulfilled these inclusion criteria. The mean +/- SD age at onset was 37.2 +/- 18.4 years and the mean +/- SD duration of follow-up was 6.0 +/- 5.6 years. Neuromyelitis optica-IgG was detected in 41 patients (68%). Brain MRI lesions were detected in 36 patients (60%). Most were nonspecific, but 6 patients (10%) had multiple sclerosis-like lesions, usually asymptomatic. Another 5 patients (8%), mostly children, had diencephalic, brainstem or cerebral lesions, atypical for multiple sclerosis. When present, symptoms of brain involvement were subtle, except in 1 patient who was comatose and had large cerebral lesions. CONCLUSIONS: Asymptomatic brain lesions are common in NMO, and symptomatic brain lesions do not exclude the diagnosis of NMO. These observations justify revision of diagnostic criteria for NMO to allow for brain involvement.     

Normal diffusion-weighted MRI during stroke-like deficits.

BACKGROUND: Diffusion-weighted MRI (DWI) represents a major advance in the early diagnosis of acute ischemic stroke. When abnormal in patients with stroke-like deficit, DWI usually establishes the presence and location of ischemic brain injury. However, this is not always the case. OBJECTIVE: To investigate patients with stroke-like deficits occurring without DWI abnormalities in brain regions clinically suspected to be responsible. METHODS: We identified 27 of 782 consecutive patients scanned when stroke-like neurologic deficits were still present and who had normal DWI in the brain region(s) clinically implicated. Based on all the clinical and radiologic data, we attempted to arrive at a pathophysiologic diagnosis in each. RESULTS: Best final diagnosis was a stroke mimic in 37% and a cerebral ischemic event in 63%. Stroke mimics (10 patients) included migraine, seizures, functional disorder, transient global amnesia, and brain tumor. The remaining patients were considered to have had cerebral ischemic events: lacunar syndrome (7 patients; 3 with infarcts demonstrated subsequently) and hemispheric cortical syndrome (10 patients; 5 with TIA, 2 with prolonged reversible deficits, 3 with infarction on follow-up imaging). In each of the latter three patients, the regions destined to infarct showed decreased perfusion on the initial hemodynamically weighted MRI (HWI). CONCLUSIONS: Normal DWI in patients with stroke-like deficits should stimulate a search for nonischemic cause of symptoms. However, more than one-half of such patients have an ischemic cause as the best clinical diagnosis. Small brainstem lacunar infarctions may escape detection. Concomitant HWI can identify some patients with brain ischemia that is symptomatic but not yet to the stage of causing DWI abnormality.     

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A ‘leukodystrophic’ pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a ‘leukodystrophic’ pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a ‘leukodystrophic’ pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.