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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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Objective:To explore the changes of cerebral blood flow (CBF) perfusion caused by N 2O (laughing gas) abuse. Methods:From December 2017 to October 2018, the CBF perfusion images of 24 patients with laughing gas abuse (9 males, 15 females; age: 18-32(24.0±8.9) years) from China-Japan Friendship Hospital were analyzed retrospectively. The region uptake statistics of different brain regions of interest (ROI) (basal ganglia, central region, cerebellum, cingulate gyrus, frontal lobe, medial temporal lobe, occipital lobe, parietal lobe, temporal lobe) between patients with laughing gas abuse and normal people of the same age group from background software database were calculated automatically. Statistic>1.68 indicated the increase of local CBF perfusion, while statistic < -1.68 indicated the decrease of local CBF perfusion. The correlation between the statistics of bilateral brain regions and the correlation between statistical values and clinical indicators were analyzed by Pearson and Spearman correlation analyses.Results:The correlation of the statistics between bilateral regions of each brain area was significant( r values: 0.503-0.892, all P<0.05). The decreased CBF proportions of frontal and temporal lobes were 62.5%(15/24) and 70.8%(17/24), respectively. The highest proportion of increased CBF was cingulate gyrus (33.3%, 8/24). There were significant correlations between frontal lobe, central brain area and duration of laughing gas abuse ( rs values: 0.375, 0.305, both P<0.05). Conclusion:CBF perfusion imaging is helpful for understanding the changes of CBF in patients with laughing gas abuse.
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Objective:To investigate the clinical, neuropsychological and regional cerebral blood flow (rCBF) characteristics in patients with psychiatric symptoms caused by nitrous oxide abuse.Methods:Twelve patients with psychiatric symptoms caused by nitrous oxide abuse were enrolled from February 2018 to February 2020 in the Department of Neurology, China-Japan Friendship Hospital and the First Hospital of Tsinghua University.All patients were scored with the brief psychiatric rating scale (BPRS), Hamilton depression scale (HAMD), Hamilton anxiety scale (HAMA), mini-mental state examination (MMSE) and Montreal cognitive assessment (MoCA). The SPECT/CT images were collected with low-energy and high-resolution collimator.After the pictures were reconstructed, 18 brain regions were automatically sketched and calculated by Database Comparison software.The statistical value of the difference between the general mean value of each brain region and that of the corresponding region of interest in the same age group was estimated.Results:(1)The clinical manifestations of 12 patients were anxiety, depression, hallucination, delusion, and 7 patients were accompanied by cognitive decline.(2)Neuropsychological examination: BPRS score was 57.83±11.15 (anxiety depression factor was 3.94±0.47; lacking active factor was 3.25±0.85; thinking disturbance factor was 3.21±1.27; activity factor was 2.28±0.56; hostility factor was 3.14±1.24). The score of self-knowledge impairment was 2.92±1.08, the score of inability to work was 4.50±1.17, the score of HAMD was 32.75±10.13, the score of HAMA was 18.67±5.80, the score of MMSE was 27.67±2.50, and the score of MoCA was 24.58±3.78.(3)SPECT showed that compared with the general mean value of the corresponding regions of interest of normal people, the patients showed hypoperfusion in the frontal lobe (7 patients, 58.30%) and the temporal lobe (8 patients, 66.70%).Conclusion:Nitrous oxide abuse has an obvious effect on rCBF.The psychiatric symptoms include anxiety, depression, hallucination, delusion and so on, which affect the ability to work and learn.SPECT has important value in the diagnosis of nitrous oxide abuse, and indicates changes in local brain functional activity.
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OBJECTIVE@#To explore the clinical, neuropathological and genetic characteristics of a patient with Perrault syndrome caused by TWNK mutation.@*METHODS@#Potential variation of the TWNK gene was detected by next-generation sequencing (NGS) and verified by Sanger sequencing.@*RESULTS@#The patient has featured primary amenorrhoea and progressive sensorineural hearing loss since childhood. She also had gait anormaly, distal limb atrophy and weakness, and nystagmus. Further study confirmed sensory neuronopathy accompanied with upper and lower motor neuron involvement as well as cerebellum atrophy. NGS has identified two heterozygous variants of the TWNK gene, namely c.794G>A (p.Arg265His) and c.1181G>A (p.Arg394His). Sanger sequencing confirmed that c.1181G>A (p.Arg394His), a known pathogenic variant, was derived from her farther, while c.794G>A(p.Arg265His), a novel variant, was derived from her mother and likely pathogenic according to the ACMG guidelines.@*CONCLUSION@#Perrault syndrome is a group of disorders with a high phenotypic heterogeneity. The compound heterozygous variation of c.794G>A (p.Arg265His) and c.1181G>A(p.Arg394His) of the TWNK gene may underlie Perrault syndrome in the patient.
Subject(s)
Child , Female , Humans , Genetic Testing , Gonadal Dysgenesis, 46,XX , Hearing Loss, Sensorineural , PedigreeABSTRACT
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.
Subject(s)
Humans , DNA Mutational Analysis , Galactosylceramidase , Genetics , Genetic Testing , Leukodystrophy, Globoid Cell , Genetics , Mutation , Peripheral Nervous System DiseasesABSTRACT
<p><b>OBJECTIVE</b>To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).</p><p><b>METHODS</b>Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.</p><p><b>RESULTS</b>The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).</p><p><b>CONCLUSION</b>LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>
Subject(s)
Adult , Female , Humans , Young Adult , Base Sequence , Connectin , Genetics , Exons , Molecular Sequence Data , Muscular Dystrophies, Limb-Girdle , GeneticsABSTRACT
Objective To investigate the characteristics of PMP22 duplication mutation and the clinical variability of Charcot-Marie-Tooth disease type 1A (CMT1A) patients. Methods PMP22 duplication mutation analysis were performed in 45 cases diagnosed probably CMT by combination of improved allele-specific PCR-restriction enzyme digestion and short tandem repeat (STR) analysis based on laser-induced fluorescence detection in capillary electrophoresis. The clinical features of the positive cases were precisely analyzed. Results With the combined use of two methods, PMP22 duplication was detected in 21 cases, i.e. 10 CMT1 cases with typical presentations including weakness and atrophy in the distal limbs, and 11 atypical cases with special phenotypes including 1 case with mild dizziness, 1 case with hearing loss, 2 cases with recurrent limbs weakness, 2 cases with postural tremor in the upper limbs, 4 cases with cerebellar ataxia and 1 case with epilepsy. Conclusions The improved allele-specific PCR-restriction enzyme digestion provides the accurate, reliable and feasible method to detect PMP22 duplication, which is the most common cause of CMT. Comprehensive analysis of clinical, electrophysiological and pathological features of the CMT1A patients with positive PMP22 duplication indicate the high clinical variability of this disease.
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Objective To study clinical and electrophysiological features of multifocal motor neuropathy (MMN). Methods The clinical features and data of electrophysiological examination from 16 patients with MMN were analyzed retrospectively.Results In the present study, the onset age was 14 to 47 years with the mean age of (28.2?2.4) years. All the 16 patients presented with unsymmetrical weakness of extremities (Ⅱ～Ⅳ grade of muscle strength) and no hypoesthesia. More serious weakness was found in the upper limbs and in the right extremities. 4 cases were accompanied with mild amyotrophy. Electromyography showed segment conduct block (CB) and slow down of conduct velocity of motor nerves in all 16 patients. Slow conduct velocity of sensory nerve was found only in one case.Conclusions MMN is an unsymmetrical peripheral neuropathy, which affects mainly on motor nerve. Nerve electrophysiology plays an important role in diagnosis of MMN and CB is the characteristic manifestation of nerve electrophysiological change in MMN.