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The clinical, neuroelectrophysiological, neuropathological characteristics and outcome of a case of acute sensory axonopathy are reported. The patient was a 32-year-old female. She presented with acute onset sensory abnormalities, sensory ataxia, pseudoathetosis and areflex. Lab testing showed cerebrospinal fluid albumin cytologic dissociation. Electromyography studies and sural nerve pathology were consistent with acute sensory axonopathy. Treatment including intravenous immunoglobulin and steroid therapy was provided. Her symptoms recovered slowly without relapse, so did tibial H-reflex amplitudes.
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Recently, neuromyelitis optica spectrum disorders (NMOSD) appear to be a multi-organ disorder, however, the involvement of myocardium in NMOSD is extremely rare. In the present article, we present a young girl who manifested bilateral optic neuritis, area postrema syndrome, brainstem syndrome and transverse myelitis, as well as tachycardia, abnormal electrocardiograph, moderate elevation of myocardial biomarker and regional wall movement abnormalities, which confirmed the diagnosis of Takotsubo cardiomyopathy associated with NMOSD. The neurological deficits along with myocardial injury were recovered soon after the administration of intravenous methylprednisolone and intravenous immunogloblin. This is a rare case that should be paid attention and by which can not only broaden the symptom spectrum of NMOSD, but can also provide novel visions for further investigating the mechanism of organs damage.
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Objective To investigate the clinical,imaging,intestinal pathological characteristics and prognosis of gluten ataxia (GA).Methods The clinical data,treatment and prognosis in a patient with GA that was confirmed by pathology and hospitalized in the Department of Neurology,China-Japan Friendship Hospital in July 2018,were analyzed retrospectively.The related literature was reviewed and the clinical feature was summarized.Results The patient is a 41-year old man.He suffered from progressive cerebellar ataxia,and the brain magnetic resonance imaging exhibited diffused cerebellar atrophy.Serum human leukocyte antigen (HLA) tests showed that the patient carried HLA-DQ2 genotype.IgA type anti-gliadin antibody was positive (39.39 RU/ml).Duodenoscopy biopsy revealed mild villus atrophy and lymphocytic infiltration,indicating celiac disease.The diagnosis of GA was established then and the patient was administered gluten-free diet combined with intravenous immunoglobulin,which markedly improved the cerebellar symptoms and signs of cerebellar speech,walk capability and daily living activities.He could do long distance driving independently two months later.Conclusions GA is one of immune-mediated reversible acquired cerebellar ataxia caused by gluten sensitivity.The genotype,serologic features,and clinical phenotype of GA in Chinese mainland population might be similar with those in European and American countries.
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OBJECTIVE@#To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.@*METHODS@#A comprehensive analysis including clinical investigation and genetic testing was carried out.@*RESULTS@#The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.@*CONCLUSION@#Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
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Humans , DNA Mutational Analysis , Galactosylceramidase , Genetics , Genetic Testing , Leukodystrophy, Globoid Cell , Genetics , Mutation , Peripheral Nervous System DiseasesABSTRACT
Objective To study the clinical and imaging characteristics of Chinese atopic myelitis (AM) patients.Methods Three diagnosed AM patients were retrospectively analyzed for the clinical data,serum IgE level,antigen specific IgE,cerebrospinal fluid,spinal MRI and therapeutic efficacy profiles.Results All the three patients were male and presented as subacute AM with the onset at 25,47 and 49 years old respectively.Two patients were allergic to pollen and other drugs,while another patient suffered from allergic rhinitis.Elevated serum total IgE and mite antigen specific IgE were found in all cases.Paraesthesia in limb extremities and positive Lhermitte sign were the main clinical features,while no optic,motor,urinary and defecation disturbance were found.Oligoclonal banding of cerebrospinal fluid and serum aquaporin 4 (AQP4) antibody were both negative in all cases.Spinal MRI showed lesions were hypointense on T1 and hyperintense on T2 at the posterior column of T2-3 segment with abnormal enhancement in case 1,hypointense on T1 and hyperintense on T2 at C2/3 segment with mild swelling in case 2 and hypointense on T1 and hyperintense on T2 at C3-5 segments with swelling and abnormal enhancement in case 3.Vitamin B were used in one patient,while the other two patients improved after the treatment with high-dose corticosteroids.Conclusions Subacute myelitis predominantly presents as paraesthesia in limb extremities with elevated serum total IgE and mite antigen specific IgE,while severe motor disorders are rare.Swelling and abnormal enhancement lesions at the posterior column of cervical cord are the common imaging features.Treatment with corticosteroids is recommended to be sustained for 3-6 months.
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Objective In the context of worldwide shortage of amytal,explore the intracarotidpropofol test for lateralizing language area and assessing hemispheric memory function.Methods Fourteen patients with refractory partial epilepsy who were candidates for surgical intervention were included in the study.With guide under a digital subtraction angiography,propofol was injected in bilateral intracarotidsequentially.Muscle power deceasing to level 0 at the contralateral limb and eyes gazing to contralateral side were used as the mark of hemispheric anesthesia completely.The immediate language alterations were recorded.To evaluate the bilateral language and memory functions,the visual and auditory memory tasks were performed sequentially once patient could concentrate his attention ; and after limb muscle power recovering to normal level,patients were required to perform a free recall test.Any abnormal responses were recorded.Results Language dominant hemisphere was determined in 14 patients.Nine patients were confirmed as left language dominance,2 patients were right language dominance.The remained 3 patients were considered as bilateral language dominance.Meanwhile,the hemispheric memory function was able be evaluated in 13 patients.More than 67％ memory function was sustained in hemisphere contralateral to mesial temporal lesions.Transient responses including eye pain,facial muscle spasms,laughers and involuntary movements were observed.Conclusion Hemispheric language and memory functions can be assessed with direct intracarotidpropofol injection,and propofol could be an alternative drug to amobarbital used in the Wada test.
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@#Chronic inflammatory demyelinating polyneuropathy (CIDP) is one of the acquired autoimmune peripheral neuropathy with various therapeutical methods. This article reviewed the therapeutical advances in CIDP.
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@#Angiogenic factors possess the function of angiogenesis.The relationship between the angiogenic factors and the treatment of ischemic diseases is attracting increasing attention.The present article reviewed the progresses of angiogenic factors in the treatment of cerebral ischemia.