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Clinical features of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ(report of 1 case)

Jing BAI ; He Lü

Journal of Clinical Neurology.2015;28(5):377-379.

Objective To investigate the clinical characteristics of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ.Methods The clinical data of 1 case Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡwas retrospectively analyzed.Results The patient presented muscle weakness in proximal limbs, fasciculation, bulbar palsy, amyotrophy, postural tremor, sensory disturbance, gynaecomastia, impotency.The level of serum creatine kinase and urinary glutaric acid were elevated. Electromyogram and nerve and muscle biopsy supported mixed damage in peripheral nerves, as well as neurogenic and secondary myogenic pathologic changes in muscles.Gene sequencing indicated trinucleotide CAG repeated amplification for 47 times in chromosome X.Diabetes was diagnosed at 7 years after onset.Conclusions The pathogenesis of Kennedy disease is very complex, which may involve myogenic factor.The treatment to the secondary mitochondrial and lipid metabolic disturbance in muscle can improve the muscle weakness to a certain extent.

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Imaging features and treatments of ischemic cerebrovascular disease with unruptured intracranial aneurysms

Lingfeng WU ; Wenfeng CAO ; Xiaomu WU

Journal of Clinical Neurology.2015;28(5):353-355.

Objective To investigate the imaging features and the treatments of ischemic cerebrovascular disease with unruptured intracranial aneurysms.Methods The clinical data of 23 patients of ischemic cerebrovascular disease with unruptured intracranial aneurysms ( unruptured group) and 147 patients of hemorrhagic cerebrovascular with ruptured intracranial aneurysms ( ruptured group) were retrospectively analyzed.Results There were no statistical significances between the two groups baselines such as age, gender, hypertension, diabetes, hyperlipidemia, heart disease, smoking, drinking alcohol (all P>0.05).There were 16 patients (69.6%) with single intracranial aneurysm and 7 patients (30.4%) with multi-intracranial aneurysms in the unruptured group, and the number of intracranial aneurysms were 34.There were 125 patients (85%) with single intracranial aneurysm and 22 patients ( 15%) with multi-intracranial aneurysms in the ruptured group, and the number of intracranial aneurysms were 170.There was no statistical significance of single aneurysm and multi-aneurysms percentage between the two groups (P>0.05).The maximum aneurysm diameter and the percentage of large aneurysms, dissecting aneurysms of the unruptured group were significantly greater than the ruptured group; and the percentage of small-middle aneurysms and saccular aneurysms were significantly smaller than the ruptured group ( all P<0.05 ) .In the unruptured group, 5 cases were treated with intervention treatment and 1 case was treated with aneurysm clip surgery, all of which recovered well after surgery;6 cases were treated with Plavix antiplatelet therapy, 5 cases were treated with Aspirin antiplatelet therapy, cerebrovascular disease events were not found of which followed-up for 6 months;6 cases were not taken antiplatelet therapy, and 1 case of which followed-up and occurred cerebral infarction.In the ruptured group, 46 cases were treated with intervention treatment, 2 cases of which were died;101 cases were treated with aneurysm clip surgery, 6 cases of which were died.Conclusions Small-middle aneurysms are more commonly occurred in patients of ischemic cerebrovascular disease with unruptured intracranial aneurysm, however, the maximum aneurysm diameter of which is significantly bigger than patiehts of hemorrhagic cerebrovascular with ruptured intracranial aneurysms.Most of unruptured aneurysms which had duty relationship with cerebral ischemic events are dissecting aneurysms and saccular aneurysms.Intervention treatment of unruptured intracranial aneurysms is relatively safe and effective.

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The baseline predictive factors of early neurological deterioration among mild ischemic stroke patients

Mengmeng SHI ; Fuling YAN ; Haichao JI

Journal of Clinical Neurology.2015;28(5):345-348.

Objective To determine the occurrence and baseline predictive factors of early neurological deterioration ( END) among mild ischemic stroke patients.Methods Mild ischemic stroke patients admitted in the hospital were prospectively enrolled.Univariate and multivariate Logistic recession analyses were used to analyze the demographic data, risk factors of ischemic stroke, clinical, brain imaging and laboratory data.Risk factors of END were identified.Results From June 2012 to August 2013, a total of 319 patients with mild ischemic stroke were enrolled, 45 patients (14.1%) of them experienced END.Univariate analysis showed that baseline NIHSS ( U=3522.000,P=0.000), baseline systolic blood pressure (t=2.871,P=0.004), proportion of symptomatic large artery severe stenosis or occlusion (χ2 =52.564,P=0.000) and proportion of large artery atherosclerosis among TOAST subtypes (χ2 =47.287,P=0.000) in END group were significantly higher than those in non-END group. Multivariate logistic regression analysis showed that baseline systolic blood pressure>142 mmHg (1 mmHg=0.133 kPa) (OR=3.954, 95%CI:1.693-9.236, P=0.001), symptomatic large artery severe stenosis or occlusion (OR=3.170, 95%CI:1.170-8.583, P=0.023) and baseline NIHSS (OR=2.038, 95%CI:1.359-3.057, P=0.001) were associated with END.Conclusions About 14.1% of the mild ischemic stroke patients can occur END.Baseline systolic blood pressure>142 mmHg, symptomatic large artery severe stenosis or occlusion and higher baseline NIHSS were the independent risk factors of END.

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Risk factors of ischemic stroke in Jiangsu Taixing population

Rujuan ZHOU ; Longjin HE

Journal of Clinical Neurology.2015;28(5):385-387.

Objective To investigate the risk factors of ischemic stroke in Jiangsu Taixing population.Methods Case-control study was used in this investigation.Cases: all the diagnosed ischemic stroke patients in neurology department of Taixing People 's Hospital from 2011.9 to 2013.6.Controls: all the controls were selected randomly from community residents in Taixing city during the same period of time, according to the age and gender and ratio of 3:2.Univariate analysis and Logistic regression model was applied to analyze risk factors respectively.Results Seven hundred and seventy-seven stroke patients ( case group) and 518 controls ( control group) were brought into the study.It was preliminarily found in univariate analysis that compared with the control group, the rates of smoke, hypertension, diabetes, hyperlipidemia and the waist circumference, waist-to-hip ratio were significantly higher in the case group;while the total bilirubin level was significantly lower ( all P<0.001 ) .Logistic regression showed that smoking (OR=2.089, 95%CI:1.452-3.005), hypertension (OR=3.838, 95%CI:2.516-5.855) were risk factors of stroke in the elder population in Taixing, elevated total bilirubin level ( OR=0.281, 95%CI:0.155-0.508) was protective factor of stroke in the elder population ( all P<0.05 ).Conclusion No smoking, no hypertension history could make it less possible for stroke to occur, and total bilirubin level becomes protective factor of stroke.

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Diagnosis and treatment of cerebral venous sinus thrombosis in early pregnancy ( report of 4 cases)

Ying HAN ; Quanmin NIE ; Yongming QIU

Journal of Clinical Neurology.2015;28(5):380-381.

Objective To investigate the diagnosis and treatment of cerebral venous sinus thrombosis ( CVST) in early pregnancy.Methods The clinical data of 4 patients with CVST in early pregnancy were analyzed retrospectively.Results The age of the 4 patients with CVST during early pregnancy was 22 -28 years old.The clinical symptom was headache, and 1 case with seizure.The clinical sign was papilledema.The MRI and MRV examination showed that the superior sagittal sinus thrombosis in 1 case, the superior sagittal sinus and left transverse sinus thrombosis in 1 case, and the left transverse sinus and sigmoid sinus thrombosis in 2 cases.The patients were received anticoagulant therapy with low molecular weight heparin, 1 case was added endovascular thrombolytic therapy.After therapy, 2 cases were cured, and 2 cases improved.Conclusions CVST in early pregnancy is easy to be misdiagnosed.MRI and MRV are helpful to diagnose it.The mainly therapies are endovascular thrombolysis and anticoagulation therapy with low molecular weight heparin.

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Clinical features of cryptogenic stroke accompanied with patent foramen ovale

Xiaorong DAI ; Junmei LIU ; Rui ZHANG

Journal of Clinical Neurology.2015;(4):293-295.

Objective To investigate the clinical features of cryptogenic stroke accompanied with patent foramen ovale ( PFO) .Methods The clinical data of 8 cryptogenic stroke patients accompanied with PFO were analyzed retrospectively.Results Eight patients aged 15-55 years old, average age was 39.75 years old.They were acute onset.The clinical symptoms were limb weakness in 5 cases, speech disorder in 2 cases, walking instability, weakness of lower limbs, epilepsy, acmesthesia decrement of one side in 1 case retrospectively. Doppler echocardiography showed PFO was in all the patients.Brain MRI showed frontal lobe, parietal lobe, temporal lobe, occipital lobe, insular cortex, periventricular body, hind limb of the internal capsule, basal ganglia, cerebellum had low T1 single, and high T2 single.Four cases were unilateral involvement, and 4 cases were bilateral involvement;6 cases were multiple lesions, 2 cases were single lesion;involved in anterior circun systemlatio system was in 4 cases, involved in posterior circulation system was in 1 case, and involved in anterior and posterior circulation system was in 3 cases.All cases had no recurrence after treatment.Conclusions The onset age of cryptogenic stroke patients accompanied with PFO is relatively young.Brain MRI shows multiple lesions, it can involed in bilateral, anterior and posterior circulation system.Prognosis of cryptogenic strok accompanied with PFO is good.

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Relationship of the location of nerve compression and different type of trigeminal neuralgia

Xiaolei ZHAI ; Liansong LIU

Journal of Clinical Neurology.2015;(4):291-292.

Objective To investigate the relationship of the location of nerve compression and different type of trigeminal neuralgia.Methods Twenty-one patients with typical trigeminal neuralgia and 16 patients with atypical trigeminal neuralgia were treated by micro-vascular decompression.The position of the responsible vessels was probed during operation.Results Compared with atypical trigeminal neuralgia group, the compression rate of trigeminal root entry/exit zone (REZ) in typical trigeminal neuralgia group was significantly higher(P<0.01).The compression rate of trigeminal REZ which oppressed by artery in typical trigeminal neuralgia group was significantly higher than that in atypical trigeminal neuralgia group ( P<0.01 ) .Conclusions The responsible vessels in typical trigeminal neuralgia patients is mostly located in the trigeminal REZ, and the responsible vessels is mostly not located in other location in the trigeminal REZ.The responsible vessels oppress REZ is closely related to types of trigeminal neuralgia.

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Comparison of electrophysiological features in peripheral vertigo and central vertigo

Hailong XUE ; Wen XIAO ; Cangxia LI

Journal of Clinical Neurology.2015;(4):262-264.

Objective To compared the electrophysiological features in peripheral vertigo and central vertigo. Methods The electronystagmograph ( ENG ) and brainstem auditory evoked potentials ( BAEP ) were applied in peripheral vertigo group(85 cases) and central vertigo group(61 cases).Result ENG abnomal was in 67 cases (78.8%) in peripheral vertigo group.Overshoot or undershoot of dysmetria test was in 6 cases ( 7.1%);spontaneous nystagmus was in 5 cases(5.9%);abnormal of gaze test was in 16 cases(18.8%); eye tracking test typeⅠwas in 42 case(49.4%), typeⅡwas in 17 cases(20.0%), and typeⅢwas in 8 cases(9.4%); bilateral asymmetry of optokinetic nystagmus test was in 19 cases(22.4%);positioning nystagmus was in 51 cases(60.0%);abnormal of cold and hot test was in 31 cases(36.5%).ENG abnomal was 42 cases(49.4%) in central vertigo group.Overshoot or undershoot of dysmetria test was in 19 case(31.1%);spontaneous nystagmus was in 13 cases (21.3%);abnormal of gaze test was in 23 cases(37.7%);eye tracking test typeⅠwas in 35 cases(57.4%), typeⅡwas in 13 cases(21.3%), and typeⅢwas in 8 cases(13.1%);bilateral asymmetry of optokinetic nystagmus test was in 33 cases(54.1%); positioning nystagmus was in 2 cases(3.3%); abnormal of cold and hot test was in 6 cases(9.8%).Compared with peripheral vertigo group, the abnormal rates of optokinetic nystagmus test, gaze test, eye tracking test, optokinetic nystagmus test in central vertigo group were significantly increased, and the abnormal rates of positioning nystagmus, cold and hot test in central vertigo group were significantly decreased (all P<0.05). There were 32 cases(37.6%) in peripheral vertigo group with BAEP abnormal, and 31 cases(50.8%) were in central vertigo group with BAED abnormal.Compared with central vertigo group, the latency ofⅠwave andⅠ-Ⅲwave latency delayed in peripheral vertigo group were significantly increased, the latency ofⅤwave andⅠ-Ⅴwave latency delayed were significantly decreased ( all P<0.05 ) .Conclusions There are high sensitivity of optokinetic nystagmus test, gaze test, eye tracking test, optokinetic nystagmus test of ENG to the diagnosis of central vertigo. There are high sensitivity of positioning nystagmus, cold and hot test to the diagnosis of peripheral vertigo.The positive rate of BAEP is relatively lower, but it can provide objective foundation for location of vertigo patients.

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Clinical, imaging and electrophysiological characteristics of Creutzfeldt-Jakob disease

Ping ZHANG ; Jie LI ; Liping LI

Journal of Clinical Neurology.2015;(4):265-268.

Objective To explore the clinical, imaging and electrophysiological characteristics of Creutzfeldt-Jakob disease ( CJD) .Methods The clinical data of 28 very probable CJD patients were analyzed retrospectively. Results Twenty-eight patients in this group, acute onset was in 5 cases, subacute onset was in 17 cases, chronic onset was in 6 cases.The initial symptoms were dizziness, gait instability in 11 cases ( 39.3%) , cognitive dysfunction in 10 cases (35.7%), visual symptoms in 3 cases (10.7%), mental symptoms, insomnia, repeated falls and barylalia in 1 case (3.6%) respectively.The clinical symptoms were progressive dementia in 28 cases (100%), myoclonus in 21 cases (75.0%), ataxia in 19 cases (67.9%), abnormal mental behavior in 7 cases (25.0%), pyramidal signs in 20 cases (71.4%), extrapyramidal symptoms in 15 cases (53.6%), visual impairment in 6 cases (21.4%), sleep disorder in 11 cases (39.3%), and aphasia in 9 cases (32.1%).Twelve patients (42.9%) had positive results with CSF 14-3-3 protein analysis.Twenty-four patients (85.7%) had MRI high signal abnormalities in caudate nucleus and putamen or/and at least two cortical regions.Eight cases (28.6%) experienced a typical periodic sharp wave complexes (PSWCs), 12 cases (42.9%) had a diffuse symmetric or asymmetric slow-wave activity, 8 cases (28.6%) showed rhythmic three-phase or delta wave, with the whole guide or forehead synchronization.Conclusion Most CJD patients are subacute or chronic onset.Initial symptoms of CJD are atypical, progressed to classical clinical characteristics presented in middle-late stages.Nearly half patients have CSF 14-3-3 protein positive.MRI DWI of mostly CJD patients have abnormal signal.EEG of nearly a third of CJD patients shows PSWCs.

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Clinical and nerve electrophysiological features of sodium azide poisoning

Yanxia HE ; Xiaojian WENG ; Ning HU

Journal of Clinical Neurology.2015;(4):259-261.

Objective To observe the clinical and nerve electrophysiological features of sodium azide poisonin. Method The clinical data of 11 patients with sodium azide poisonin were analyzed retrospectively.Results In this group, the first symptoms was numbness in 4 cases, weakness in 3 cases, walking instability in 2 cases, dizziness and nausea in 2 cases.The major clinical manifestations were numbness in 8 cases, weakness in 6 cases, walking instability in 4 cases, dizziness and nausea in 3 cases, leptophonia in 2 cases, diplopia in 2 cases, limb muscle strength loss in 7 cases, reducing muscle tension in 3 cases, weakened tendon reflex in 3 cases, skin needle drops in 3 cases.Electrophysiological examination showed motor nerve conduction velocity ( MCV) was slower, distal latency ( DML) and amplitude ( AMP) were reduced; the sensory nerve conduction velocity ( SCV) was slower, and AMP was reduced.The latency (Lat) and wave interval of brainstem auditory evoked potential (BAEP) and visual evoked potential ( VEP) , somatosensory evoked potentials ( SEP) were prolonged, and AMP was reduced.Compared with pre-treatment, the abnormal rates of MCV, AMP, DML of median nerve, ulnar nerve, deep peroneal nerve and SCV, AMP of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve and AMP of SEP after treatment had no statistically significant (all P>0.05).Compared with pre-treatment, the abnormal rates of Lat of BAEP, VEP, SEP andⅢ-Ⅴof BAEP and AMP of BAEP, VEP had no statistically significant (P<0.05-0.01).Conclusions The major clinical symptoms of sodium azide poisoning are numbness, weakness, unstable walking, dizziness, diplopia. Electrophysiological examination showed MCV is slower, DML and AMP are reduced; SCV is slower, and AMP is reduced.The Lat and wave interval of evoked potential are prolonged, and AMP is reduced.

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