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Objective:To summarize the clinical manifestation and imaging of superficial siderosis of the central nervous system and explore the potential etiology.Methods:The clinical and imaging data of 7 patients diagnosed as superficial siderosis of the central nervous system in Peking Union Medical College Hospital from May 2013 to November 2019 were retrospectively reviewed. The etiology and follow-up prognosis through phone call were analyzed.Results:There were 7 patients included (3 male and 4 female) with an average age of 53 years (41-58 years). The cardinal manifestations were sensorineural deafness (all 7 cases), cerebellar ataxia (all 7 cases) and pyramidal signs (all 7 cases). Dizziness (6 cases), bladder disturbance (5 cases), headache (3 cases), double vision (2 cases) and congnitive impairment (1 case) could also happen. Magnetic resonance imaging showed symmetrical well-defined curvilinear homogeneous low signal on T 2 or blood-sensitive sequences (T 2* gradient echo or susceptibility-weighted imaging) over the superficial surface of cerebellar, brain stem, and spinal cord or cranio-cervical junction. All the 7 patients showed cerebellar atrophy especially the upper vermis. The potential causes included trauma history in 3 cases, intraspinal fluid-filled collection which indicated dural defect or duropathologies in 3 cases, intraspinal mass in 1 case and vertebral and disc degeneration in all 7 patients. The 5 patients who successsfully got follow-up showed exacerbation of variable degree. Conclusions:Classical superficial siderosis of the central nervous system is a rare disease with cardinal manifestation of progressive ataxia, sensorineural deafness and pyramidal signs. T 2WI of magnetic resonance imaging showing low signal over the superficial surface of cerebellar, brain stem, and spinal cord could indicate the diagnosis, and blood-sensitive sequences such as T 2* gradient echo or susceptibility-weighted imaging were more sensitive. Duropathologies or dural defect may be the most probable causes of the disease and should be examined and treated carefully.
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Objective:To investigate the features of gait disorders in patients with idiopathic normal pressure hydrocephalus(iNPH).Methods:Clinical data of 42 patients diagnosed with iNPH admitted to the neurological department of Aviation General Hospital from March 2017 to July 2020 were consecutively collected.The features of gait disturbance and activity of daily living were retrospectively studied.Results:Of the 42 patients, 29 cases(69%)were males, aged(73.0±8.3)years, and 13 cases were females, aged(73.0±8.3)years old.The mean course of disease was(3.5±3.0)years.There were 90.5% of patients(38/42)complained of gait disorders, and 61.9%(26/42)had fall histories.All patients had gait abnormalities.The time for 3m-Timed Up and Go(TUG)test were(27.8±17.0)seconds, and the proportion of patients with the time for 3m-TUG less than 10 seconds, 10~20 seconds and more than 20 seconds were 5.9%(2/34), 35.3%(12/34)and 58.8%(20/34), respectively.In the 10-meter walking test, 8 patients needed assistance.Of the 34 patients who could walk independently, 94.1%(32/34)had tandem walking disturbed and tendency toward falling, 76.5%(26/34)had turning disturbed, 44.1%(15/34)had wide based stride and small steps, 29.4%(10/34)had trunk balance disturbed, 23.5%(8/34)had reduced foot-floor clearance, and 8.8%(3/34)had start hesitation, 97.6%(41/42)had abnormal step counting and 90.5%(38/42)had abnormal time evaluation.The proportion of patients with activity of daily living(Barthel Index)scores of(mild dependence), moderate dependence and severe dependence were 71.4%(30/42), 28.6%(12/42)and 0%(0/42). Of the 30 patients with mild dependence, 56.7%(17/30)had fall histories.Conclusions:In our study, all patients have gait dysfunction, which causes some impact on activity of daily living and a higher risk of falls.Gait slowness, tandem walking disturbed, turning disturbed, tendency toward falling, wide based stride and small steps are the most involved gait characteristics.Early assessment of gait disorders is of great significance in early diagnosis and the prevention of falls and living ability decline.
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Objective To report the clinical and paraclinical features of a case series with antiIgLON5 antibody related encephalopathy.Methods One hundred and fifty patients with sleep disorders and subacute or chronic onset of movement disorders,parkinsonism or bulbar palsy were included.The serum and cerebrospinal fluid specimens of these patients were screened for anti-IgLON5 antibody.The clinical and paraclinical features of patients with seropositive anti-IgLON5 antibody were summarized.Results Three patients with seropositive anti-IgLON5 antibody were identified,with one female and two males.The onset age ranged from 61 to 64 years.Case 1 presented with symptoms of involuntary movement,unsteady walk and insomnia;case 2 with symptoms of insomnia,sleep behavioral disorder,psychiatric behavior and dysphagia;case 3 with symptoms of insomnia,sleep behavioral disorder,dysarthria,and tremor.When examined by polysomnography,obstructive sleep apnea syndrome was revealed in cases 1 and 2,serious insomnia was found in cases 2 and 3,and sleep behavioral disorder was revealed in case 2.All three patients were positive for HLA-DQB1 * 0501,and cases 2 and 3 were positive for HLA-DRB1 * 1001.All three patients received immunotherapy and only one patient (case 1) responded well to immunotherapy with intravenous immunoglobulin,steroids and mycophenolate mofetil.Conclusions Anti-IgLON5-related encephalopathy is a rare disease with distinct clinical features of both autoimmune disorders and neurodegeneration disorders.These patients may benefit from immunotherapy.
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Objective To identify the spectrum of sleep disorders in the patients diagnosed with limbic encephalitis associated with anti leucine rich glioma inactivated protein 1 (LGI1) antibody.Methods Thirteen patients were identified with limbic encephalitis associated with LGI1 antibody in the Department of Neurology,Peking Union Medical College Hospital between December 2012 and August 2017.The characters of the 13 cases were studied from several aspects such as clinical presentation,imaging,polysomnography,cerebrospinal fluid and serum.Results Serum test and/or cerebrospinal fluid test showed LGI1 antibody positive in all the 13 patients.Clinical presentation included:cognitive impairment,seizures,neuropsychiatric features.Sleep disorders presented in all patients,including insomnia,dream enactment behaviors,hypersomnia,involuntary movement.Polysomnogram in the 13 patients revealed that sleep efficiency decreased in 10 patients (＜ 80％),N3 sleep decreased in 10 patients,rapid eye movement sleep decreased in 13 patients;period limb movement disorder was identified in seven patients,period limb movement index was 15.6-224.4/h,four of the seven patients also had frequent irregular motor activity;six patients had frequent faciobrachial dystonic seizures (20-83 times throughout the night);rapid eye movement sleep behavior disorder (RBD) was diagnosed in three patients.Sleep disorder resolved almost completely in 10 of 13 patients who received immunotherapy.Conclusions Sleep disorders are cardinal manifestations of limbic encephalitis associated with LGI1 antibody,including insomnia,RBD,hypersomnia,involuntary movement.They may respond favorably to immunotherapy.
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Objective To describe the clinical spectrum,especially sleep disorder in three patients diagnosed with Morvan syndrome.Methods Three consecutive patients were identified with Morvan syndrome in the Department of Neurology, Peking Union Medical College Hospital between December 2014 and March 2016.The character in three cases has been studied from several aspects such as clinical presentation, imaging, polysomnography (PSG), cerebrospinal fluid and serum.Results Serum test showed serum contactin-associated protein 2 (CASPR2)antibodies strongly positive (+++) and leucine-rich glioma inactivated protein 1 antibodies positive (+) in three patients.Neuropsychiatric features, neuromyotonia, neuropathic pain, dysautonomia, agrypnia excitata presented in all three patients.The agrypnia excitata was characterized by severe insomnia, excessive motor activity during the night.Agrypnia excitata was diagnosed in three patients according to their history.PSG was finished in case 2 and case 3.PSG in one patient (case 2) documented severe insomnia (sleep efficiency was 59%), lack of cyclic sleep organization with a predominance of stage 1 non-rapid eye movement sleep episodes intermixed with brief rapid eye movement, and a marked reduction of spindles and delta sleep;PSG in another patient (case 3) revealed complete absence of recognizable sleep.Sleep disorders and other symptoms resolved completely or almost completely in two patients (case 1,case 2) who received immunotherapy.Case 3 died from sudden cardiac death before immunotherapy.Conclusions Morvan syndrome usually is associated with high-titer CASPR2 antibodies in serum.Agrypnia excitata is cardinal manifestation of Morvan syndrome in association with a spectrum of neurologic presentations.Early immunotherapy could provide a favorable outcome.
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Objective To investigate the incidence rate, onset time and electrophysiological characteristics of rapid eye movement sleep behavior disorder (RBD) and the relationship between RBD and synucleinopathies as well as the electrophysiological diagnostic criteria of RBD in Parkinson' s disease (PD) and multiple system atrophy (MSA). Methods Sleep survey and night video-polysomnography (NPSG)were used to study sleep disturbance of PD and MSA. (1) Subjective sleep assessments: All subjects,including 66 PD patients, 65 age and sex matched healthy controls and 30 MSA patients, completed the sleep questionnaires, and the RBD incidence rate and onset time were got. (2) Objective sleep assessments: 8 PD patients, 13 MSA patients, and 15 age and sex matched healthy controls underwent video-NPSG recording on two consecutive nights. Sleep architect were analyzed. The NPSG characteristics of RBD accompany with PD and MSA were analyzed, and the electrophysiological diagnostic varameters of it were determined. Results Patients with PD or MSA had a higher prevalence of RBD. RBD was found in 59. 1% (39/66) PD patients and 86. 6% (26/30) MSA patients, among those, 46. 2% ( 18/39 ) and 84.6% (22/26) had the waking symptoms of MSA and PD. The main NPSG characteristics of RBD of PD or MSA were chin REM without atonia (RWA) and increased movement. Conclusions The relatively higher RBD prevalence in MSA and PD patients indicates that RBD has close relationship with PD and MSA.Part of patients with RBD preceding neurology disease indicates that RBD may be the early marker of PD and MSA. The main NPSG characteristics of RBD accompany with PD and MSA are chin RWA and the motor manifestations. RWA and phasic EMG activity density are supposed to be the NPSG diagnostic parameters.
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Objective To explore the clinical features of nervous system involvement of acquired immunodeficiency syndrome (AIDS).Methods A retrospective clinical analysis of 15 admitted AIDS patients with neurological involvement in our hospital from February 2002 to February 2008.Eight of them visited department of neurology for the first time.Results There were 4 cases of human immunodeficiency virus (HIV) encephalopathy, 1 of them appearanced as general chorea, 1 HIV-associated encephalopathy accompanied with myopathy; 1 progressive multifocal leukoeneephalopathy (PML); 1 PML accompanied with toxoplasmosis; 1 HlV-associated myopathy; 1 multicranial nerve injury companied with myelopathy; 1 peripheral neuropathy; 1 drug-associated neuromuscular disease; 4 meningoencephalitis and 1 brain abscess cases.Conclusion The manifestations and AIDS neurological involvement are varied.A close attention should be paid to screening.