Objective To investigate the presentation and radiologic findings of MarchiafavaBignami disease (MBD).Methods Six cases of MBD who were diagnosed and treated in our hospital were retrospectively analyzed,including the imaging examination(such as cranial CT,magnetic resonance imaging (MRI)),laboratory tests,clinical symptoms and prognosis.Results Six cases of MBD disease were presented with swelled,thickened corpus callosum,iso-or hypo-intensity on T1WI,hyper-intensity on T2WI and fluid attenuated inversion recovery and restricted diffusion on diffusion weighted imaging.Coma of acute onset was the major clinical finding in case 1,case 4 and case 6,which showed the lesions in the entire corpus callosum and extended to the white matter,and the prognosis of these cases were worse.Slow reaction and memory decrease were the clinical findings in case 2 and case 3,which showed the genu and splenium of corpus callosum involvement on MRI and CT,and returned to normal with aggressive treatment.Numbness and weakness of the lower lambs were the major clinical finding in case 5,which showed that the lesion was limited in the splenium and body of corpus callosum on MRI.The patient recovered after treatment.Conclusions MBD may present with various clinical forms,but have characteristic imaging findings.Outset form and neuroimaging characteristics of MBD are critical for improvement of the clinical outcome.

Objective To study the clinical characteristics of Guillain-Barr? syndrome(GBS) and the misdiagnosis and mismanagement in emergency department.Methods According to the diagnosis criteria of Chinese Journal of Neurology and Psychology,145 GBS in-hospital patients in our hospital from January 1,1994 to December 312004 were studied to find characteristics of GBS and auxiliary examinations.The reasons for GBS misdiagnosis and mismanagement were analysis.Results Most of the patients were young,the ratio of male to female was 2.5 to 1.Among them,mild-type was 34.5%,medium-type was 25.5%,severe-type was 13.9%,very severe-type was 7.6%,relapse-type was 4.1%,chronic-type was 12.4% and variation-type was 2.1%.The initial symptoms were multiplie.Bilateral limbs weakness and/or numbess were the most common symptom,and non-specificity asymmetrical weakness and/or numbess,headache,ophthalmalgia,distortion of angle of mouth or weak mastication were uncommon symptoms.Twenty-three patients(15.9%)were misdiagnosed in emergency department.71.3% patients developed albuminocytolgoic dissociation in cerebrospinal fluid.The content of protein in cerebrospinal fluid was correlated to the course of disease and uncorrelated to the patitent's condition.Conclusion GBS was a common cause of clinical acute flaccid paralysis,the mild-type has good prognosis and the mortality of very serere-type is high.GBS should be paid attention to in emergency department.

Dipeptidyl-peptidase-like protein 6 (DPPX) antibody-associated encephalitis, mediated by DPPX antibodies in serum and/or cerebrospinal fluid, is a novel autoimmune encephalitis. It presents with multifocal and diverse neurological disorders characterized by the triad of prodromal weight loss and/or gastrointestinal symptoms (diarrhea predominately), cognitive-mental dysfunction, and central nervous system hyperexcitability. Brain magnetic resonance imaging shows non-specific abnormalities. Immunotherapy can result in clinical improvements, but the disease is prone to relapse.

Objective To investigate the clinical features and analyze the molecular genetics of a pedigree of limb girdle muscular dystrophy (LGMD).Methods Pedigree analysis and clinical examination were performed in one four-generation family with LGMD.Electrophysiology and muscle biopsy were done in the affected members.With an informed consent, gene mutation, genome screening and linkage analysis were conducted in 26 members of this pedigree.Results Seven patients were identified.Pedigree analysis was consistent with autosomal dominant inheritance.Affected members had early presentation.Main features included proximal muscle weakness without dysarthria nor spasticity; electrophysiology and muscle biopsy revealed myopathic changes.LGMD1 A, 1B, 1C and facioscapulohumeral dystrophy genes were not detected by gene mutation analysis.Genome screening and linkage analysis did not reveal any linkage with the disease-causing gene and the reported loci of LGMD1D and LGMD1F genes.Conclusions The clinical manifestations of this LGMD family are highly heterogeneous, and the disease-causing gene of this family is not linked to any of the reported sites, suggesting this may be a new disease-causing locus, or a new genetic type of LGMD.

BACKGROUND: Hyperhomocysteinemia has been suggested to be a possible independent risk factor for stroke.OBJECTIVE: To explore the relationship between hyperhomocysteinemia and cerebral infarction and hemorrhage, and analyze the factors that affect plasma homocysteine level.DESIGN: Case-controlled clinical trial.SETTING: Department of Neurology, Second Hospital Affiliated to Medical College of Zhejiang University.PARTICIPANTS: Totally 57 patients including 21 with cerebral hemorthage and 36 with brain infarction were treated in the Department of Neurology, Second Hospital Affiliated to Medical College of Zhejiang University Between January and November 2003. Twenty-eight healthy volunteers were also recruited from the subjects coming for routine physical examination.METHODS: Two milliliters of fasting venous blood was collected from all subjects in the morning for detecting the contents of plasma homocysteine,vitamin B12, folic acid, creatinine and so on. All patients were scored for clinical neurological impairment, with the hematoma volume calculated in patients with brain hemorrhage determined on the basis of CT scanning.acid, vitamin B12, clinical neurological impairment score and hematoma volume.RESULTS: Valid results were obtained from all the 57 stroke patients and in male and female patients of both cerebral infarction group and cerebral hemorrhage group than that of the subjects of the same gender in the control group [(25.2±21.4), (18.3±10.9), (11.5±2.9) μmol/L for male subjects;(22.8±18.9), (14.7±7.4), (10.8±2.6) μmol/L for female subjects, P＜ 0.05-0.01].The level of homocysteine was similar between cerebral infarction group and cerebral hemorrhage group, homocysteic acid level showed obvious inverse correlation with folic acid level (r=-0.442, -0.531, P ＜ 0.05), but without relation to vitamin B12 level (r=-0.086, -0.111, P ＞ 0.05). Homocysteine level was not obviously correlated to the neurological impairment scores in cerebral infarction group (r=-0.139, P ＞ 0.05), nor was it related to the scores or hematoma volume in cerebral hemorrhage group (r=0.225,0.425, P ＞ 0.05).CONCLUSION: Hyperhomocysteinemia is risk factor for cerebral infarction and hemorrhage. Plasma homocysteine level is inversely correlated with folic acid level, but not obviously related to vitamin B12, clinical neurologicla impairment score or hematoma volume.

Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.

Objective To analyze clinical characteristics of patients with juvenile myoclonic epilepsy in China. Methods Eighty-seven patients were retrospectively studied in the aspects of family history, febrile seizures, clinical features, EEG, treatment effect. Results There was a female preponderance of incidence. In contrast to the earlier studies we found a high incidence of febrile seizures and a low incidence of family history. myoclonic seizures began at age of ( 13.1?3.4) years. That combined with generalized tonoclonic seizures began at age (14.3?3.8) years. Absence seizures began at age (10.0?3.3) years. The correct diagnosis was delayed at a mean of 2.2 years from onset of the disease. The incidence of abnormal EEG discharge could be enhanced by hyperventilation, photic stimulation and sleep. Sixteen patients who had received carbamazepine or phenytoin were experienced aggravation of seizures. Forty-five patients who received monotherapy with sodium valproate remained seizure-free in a follow-up longer than 0.5 years. Conclusions Failure to recognize JME may result in uncontrolled seizures, and even aggravated of seizures by using antiepilepsy drugs. Effective treatment was achieved with small doses of sodium valproate.

Objective Postictal language testing can provide useful diagnostic information for seizure lateralization.However no such a study based on non-English language was done previously.We investigated the latency of language recovery in Chinese patients with temporal lobe epilepsy (TLE).Methods Complex partial seizures in patients with TLE were extracted from our video-electroencephalogram (EEG) database.For all patients,consciousness testing started as soon as seizures were detected.When they were alert and cooperative,they were asked to read out a sentence “昨晚他们听到老在电台里讲话”which was printed on a card.When the patients were able to read the sentence correctly,the language function was considered recovered.Results Totally 65 complex partial seizures from 22 cases of TLE (11 left and 11 right) were included.Patients were cooperative to language testing in 54 seizures (83％).The latency for consciousness recovery (CRL) and latency for consciousness language recovery (LRL) were not associated with seizure duration,but the seizure lateralization.The CRL (median,161 s) and LRL (281 s) in the left TLE were statistically significantly longer than that in the right TLE (30 s,54 s respectively).Using 150 s recovery time as bound language recovery ratio was 87％ (27/31) in right TLE and 13％ (3/23) in left TLE.Conclusion Postictal language testing based on ideographic Chinese words helps to establish seizure lateralization in patients with TLE.

Objective To screen the differential proteins in the brain (neocortex and hippocampus) between the rats with cortical dysplasia (CD) and control ones,and investigate the role of their alteration in the development of epilepsy in CD.Methods Cortical dysplasia was induced in rat pups via in utero delivery of BCNU.A two-dimensional electrophoresis (2-DE)-based approach was used to construct the expression profiles of proteins in both the neocortex and hippocampus at different age groups (postnatal day 7 and 60) and to detect proteome changes between CD rats and control ones.Following gel image analysis,protein spots that differed in abundance between CD and control rats were identified by using Matrx-assisted laser desorption/ionization (MALDI) mass spectrometry (MS) and MS/MS.Results A total of 57 kinds of protein were screened out (P ＜ 0.05),in which 35 were found up-regulated and 22 were down-regulated compared with the control,35 from neonatal stage (postnatal day 7) and others from adult stage.Finally,12 among them were identified,including tubulin,alpha-lB,Beta-actin,tubulin beta-2A,GAP-43,UbCKmit,GAPDH and TMBr-3,etc.Conclusions Changed expression of specific proteins which were found in our study are involved in construction of brain 's cytoskeleton,synaptic function,mitochondrial function and so forth.Thus,they may be related to the pathogenic mechanisms of epileptogenicity of CD.

Epilepsy ; drug therapy ; metabolism ; Humans ; Signal Transduction ; TOR Serine-Threonine Kinases ; antagonists & inhibitors ; metabolism