[Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case].

Fatal familial insomnia,an autosomal dominant prion disease,is rare.We reported the clinical symptoms,examination results,diagnosis,treatment,and prognosis of a patient who was diagnosed with fatal familial insomnia.Furthermore,we described the unique clinical manifestations that involuntary movements and laryngeal stridor were significantly correlated with postural changes,aiming to provide reference for the clinical diagnosis,treatment,and research of the disease in the future.

[Tumor-Like Primary Central Nervous System Vasculitis With Spina Involvement:Report of One Case].

Primary central nervous system vasculitis (PACNS) is a vasculitic disorder affecting small to medium-sized blood vessels primarily in the central nervous system,involving the brain,spinal cord,and meninges.Tumor-like PNCAS,a rare subtype of PACNS,is often misdiagnosed as intracranial malignancy,and that with spinal cord involvement is even more uncommon.The lack of specific clinical symptoms and imaging manifestations poses a challenge to the diagnosis of PACNS.This report presents a case of tumor-like PACNS with spinal cord involvement based on the pathological evidence,aiming to enrich the knowledge about this condition.

[Sporadic Creutzfeldt-Jakob Disease With Slow Progression:Report of One Case].

Sporadic Creutzfeldt-Jakob disease(sCJD)is a prion-caused degenerative disease of the central nervous system,with the typical clinical manifestation of rapidly progressive dementia.The course of disease is less than 1 year in most patients and more than 2 years in only 2% to 3% patients.We reported a case of sCJD with expressive language disorder and slow progression in this paper.By summarizing the clinical manifestations and the electroencephalograhpy,MRI,and pathological features,we aimed to enrich the knowledge about the sCJD with slow progression.

A diagnostic challenge of primary Central nervous system lymphoma: from the eyes to the brain.

BACKGROUND: Being a subtype of primary central nervous system lymphoma (PCNSL), primary vitreoretinal lymphoma (PVRL) is a rare and fatal intraocular malignancy manifesting as blurred vision and floaters, and is usually combined with, or eventually progresses to, central nervous system lesions. The diagnosis of PVRL/PCNSL remains challenging because of the nonspecific clinical features and diagnostic dependency on biopsy. CASE PRESENTATION: In this paper, we present the clinical, imaging, laboratory, brain biopsy, and vitreous biopsy findings of a 56-year-old immunocompetent woman who presented with blurred vision of the left eye, but which rapidly evolved into lesions of the central nervous system. The dramatic changes on brain imaging and the undiagnostic brain and vitreous biopsy results presented great challenges for the diagnosis. PCNSL was eventually presumed according to comprehensive consideration of the disease progression pattern, the characteristic neuroimaging, and molecular hints. CONCLUSIONS: PCNSL is a highly invasive tumor, and timely diagnosis is the key point in clinical practice. However, the requirement for biopsy and the existence of sentinel lesions impedes the diagnosis. Therefore, follow-up and repeated biopsy is always necessary for a definitive diagnosis. This case indicates that a complete evaluation of neuroimaging, ophthalmic testing, cytologic examination of the cerebrospinal fluid, diagnostic vitrectomy, and brain biopsy are essential for diagnosis of PCNSL. Moreover, molecular and cytokine analyses are useful adjuncts to the diagnostic cytology. Of note, the analysis of cytokine levels (IL-10/IL-6) is an important auxiliary diagnostic strategy in the diagnosis of diffuse large B-cell lymphoma.

Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review.

Objective: Anterior funiculus lesion is uncommon in subacute combined degeneration of the spinal cord with few data available. Aim of the study was to describe a case with the rare manifestation and summarize existing literatures.Methods: We report a case of a 42-year-old woman with anterior and lateral funiculus lesions on cervicothoracic spine magnetic resonance imaging, who presented with unsteady gait, sensory level and weakness of lower limbs. Besides, we reviewed and analyzed literatures about subacute combined degeneration of the spinal cord with anterior funiculus lesions published during the past two decades.Results: The diagnosis of subacute combined degeneration of the spinal cord was considered due to her presence of low serum vitamin B12 levels, pernicious anemia and gastric carcinoid.Conclusion: Physicians should consider subacute combined degeneration of the spinal cord as a possible differential diagnosis when faced with atypical lesions distributed in the anterior funiculus.

Quantitative radiomic biomarkers for discrimination between neuromyelitis optica spectrum disorder and multiple sclerosis.

BACKGROUND: Precise diagnosis and early appropriate treatment are of importance to reduce neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) morbidity. Distinguishing NMOSD from MS based on clinical manifestations and neuroimaging remains challenging. PURPOSE: To investigate radiomic signatures as potential imaging biomarkers for distinguishing NMOSD from MS, and to develop and validate a diagnostic radiomic-signature-based nomogram for individualized disease discrimination. STUDY TYPE: Retrospective, cross-sectional study. SUBJECTS: Seventy-seven NMOSD patients and 73 MS patients. FIELD STRENGTH/SEQUENCE: 3T/T2 -weighted imaging. ASSESSMENT: Eighty-eight patients and 62 patients were respectively enrolled in the primary and validation cohorts. Quantitative radiomic features were automatically extracted from lesioned regions on T2 -weighted imaging. A least absolute shrinkage and selection operator analysis was used to reduce the dimensionality of features. Finally, we constructed a radiomic nomogram for disease discrimination. STATISTICAL TESTS: Features were compared using the Mann-Whitney U-test with a nonnormal distribution. We depicted the nomogram on the basis of the results of the logistic regression using the rms package in R. The Hmisc package was used to investigate the performance of the nomogram via Harrell's C-index. RESULTS: A total of 273 quantitative radiomic features were extracted from lesions. A multivariable analysis selected 11 radiomic features and five clinical features to be included in the model. The radiomic signature (P < 0.001 for both the primary and validation cohorts) showed good potential for building a classification model for disease discrimination. The area under the receiver operating characteristic curve was 0.9880 for the training cohort and 0.9363 for the validation cohort. The nomogram exhibited good discrimination, a concordance index of 0.9363, and good calibration in the primary cohort. The nomogram showed similar discrimination, concordance (0.9940), and calibration in the validation cohort. DATA CONCLUSION: The diagnostic radiomic-signature-based nomogram has potential utility for individualized disease discrimination of NMOSD from MS in clinical practice. LEVEL OF EVIDENCE: 4 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2019;49:1113-1121.

Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.

BACKGROUND: Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients. METHODS: We applied clinical analysis, radiology, plasma levels of very long chain fatty acids (VLCFA) and genetic analysis to test the 6 Chinese AMN patients. RESULTS: All 6 patients are men. Ages of neurological symptom onset are distributed between 21 and 38. Sexual dysfunction occurred in 5 of 6 patients. Three patients had positive family history. Five patients had Addison's disease. Four patients were diagnosed as pure AMN, while the other two patients were with cerebral involvement. Four patients had abnormalities of nerve conduction studies. There were four patients with central conduction defects in somatosensory evoked potential tests. All 6 patients were found diffuse cord atrophy in spinal MRI. Brain MRI showed abnormal signals in 2 of the 6 tested patients, which indicated the clinical phenotypes. Plasma levels of VLCFA, as well as C24:0/C22:0 and C26:0/C22:0 ratios were elevated in 5 tested patients. Five different ABCD1 mutations were identified in 5 tested patients, one of which was a de novo mutation, and the other four have been reported previously. CONCLUSION: This research described the clinical, neuroimaging, biochemical, and genetic sides of Chinese AMN patients. A de novo mutation in the ABCD1 gene sequence was identified. Emotional trauma may trigger or aggravate the development of cerebral demyelination in AMN patients. Regular evaluation of brain MRI is important for AMN patients, especially for 'pure AMN' patients. When encountering patients with 'myeloneuropathy-only', neurologists should not ignore the tests of VLCFA or/and the ABCD1 gene.

Relationships between adiponectin and matrix metalloproteinase-9 (MMP-9) serum levels and postoperative cognitive dysfunction in elderly patients after general anesthesia.

OBJECTIVE: The aim of this study was to evaluate the relationships between the serum levels of adiponectin (ADP) and matrix metalloproteinase-9 (MMP-9) and postoperative cognitive dysfunction (POCD) in elderly patients after general anesthesia. METHODS: The cognitive functions of 98 elderly patients who were scheduled to undergo selective hip replacement surgery under general anesthesia were assessed using the Montreal Cognitive Assessment (MoCA) 3 days before surgery and on postoperative Days 1, 2, 3, and 7. The serum levels of ADP and MMP-9 were determined at the same time points, and the presence of POCD on postoperative Day 3 was recorded. The patients were divided into a POCD group and non-POCD group. RESULTS: Postoperative cognitive dysfunction was observed in 28 patients (28.5 %). Serum MMP-9 levels significantly increased and serum ADP levels significantly decreased in the POCD group at each postoperative time point and in the non-POCD group on postoperative Days 1 and 2 compared to the presurgical levels. Serum MMP-9 levels were significantly higher and serum ADP levels were significantly lower in the POCD group compared with those in the non-POCD group at each time point. In the POCD patients, serum MMP-9 levels were significantly and negatively correlated and serum ADP levels were significantly and positively correlated with the MoCA scores. CONCLUSIONS: The increased serum MMP-9 levels and decreased serum ADP levels in elderly patients after general anesthesia might be involved in the POCD pathophysiological process.

Contribution of Gray and White Matter Abnormalities to Cognitive Impairment in Multiple Sclerosis.

Patients with multiple sclerosis (MS) commonly exhibit cognitive impairments (CI). However, the neural mechanisms underlying CI remain unclear. The current study applied diffusion tensor imaging (DTI) and voxel-based morphometric (VBM) magnetic resonance imaging (MRI) techniques to evaluate differences in white matter (WM) integrity and gray matter (GM) volume between MS patients with CI and MS patients with cognitive preservation (CP). Neuropsychological assessment and MRI were obtained from 39 relapsing-remitting MS (RRMS) patients and 29 healthy controls (HCs). Patients were classified as CI or CP according to cognitive ability, and demographic characteristics and MRI images were compared. Compared with HCs, MS patients exhibited widespread damage in WM integrity, and GM loss in several regions. Compared with CP patients, CI patients exhibited more extensive WM impairments, particularly in the corpus callosum, cerebellar peduncle, corona radiata, optic radiation, superior longitudinal fasciculus, anterior limb of the internal capsule, and cingulate, as well as decreased GM volume in the bilateral caudate, left insula and right temporal lobe. MS patients with CI exhibited more significant structural abnormalities than those with CP. Widespread impairments of WM integrity and selective GM atrophy both appear to be associated with impaired cognition in RRMS.

Combined screening for serum anti-nuclear and anti-aquaporin-4 antibodies improves diagnostic accuracy for distinguishing neuromyelitis optica from multiple sclerosis.

BACKGROUND/AIMS: Neuromyelitis optica spectrum disorders (NMOSDs) and multiple sclerosis (MS) are distinct clinical entities but are poorly distinguished by serum markers, including serum anti-aquaporin-4 (AQP4-Ab). We examined if testing for serum anti-nuclear antibodies (ANAs) and AQP4-Ab improved diagnostic sensitivity for NMOSDs. METHODS: Chinese patients with NMOSDs (n = 74) or MS (n = 49) were screened for serum ANAs (all patients) and AQP4-Ab (58/74 NMOSDs and 45/49 MS patients). The NMOSDs group included patients with neuromyelitis optica (NMO; n = 53), recurrent longitudinally extensive transverse myelitis (rLETM; n = 20), and recurrent optic neuritis (n = 1). RESULTS: The seroprevalence rate for ANAs was significantly higher in the NMOSDs group than the MS group (45.9 vs. 2%; p < 0.01). Similarly, AQP4-Ab seroprevalence was higher in NMOSDs than MS (56.9 vs. 4.4%; p < 0.01). Sensitivities and specificities for diagnosing NMOSDs were 51.7 and 97.8% using ANAs, 56.9 and 95.6% using AQP4-Ab, and 74.1 and 93.3% using both assays. CONCLUSION: Patients with NMO or rLETM had higher ANA seroprevalence than MS patients. Combined detection of both ANAs and AQP4-Ab improves the sensitivity of NMOSDs diagnosis without compromising specificity.

[Clinical, magnetic resonance imaging and neuroelectrophysiological characteristics of 14 patients with lumbosacralradiculitis].

OBJECTIVE: To improve the understanding of lumbosacralradiculitis by analyzing the clinical, magnetic resonance imaging (MRI) and neuroeletrophysiological characteristics of disease. METHODS: The clinical, MRI and neuroeletrophysiological data of 14 patients diagnosed as lumbosacralradiculitis were retrospectively analyzed. RESULTS: The predominant age of onset was in the forth decade. Each patient had bilateral or unilateral lower extremity numbness and weakness of variable severity, including muscle atrophy (n = 5) and decreased sensation in L4-S1 nerve root territory (n = 9). Lower extremity tendon reflexes decreased or became absent in all patients. Urinary and defecation disorders were seen in 3 patients. Lumbosacral MRI showed lumbosacral meninges and nerve root enhancement in 4 patients. Cerebrospinal fluid analysis revealed elevated white blood cell (30×10(6)/L) (n = 1) and increased protein content (n = 12) (450-1 000 mg/L, n = 7; 1 000-2 000 mg/L, n = 3; 2 000-3 000 mg/L, n = 2). Needle electromyography (EMG) demonstrated neurogenic damage in 13 patients. Motor nerve conduction study showed decreased motor never conduction velocity (MCV) (n = 5), decreased compound muscle action potential (CMAP) amplitude (n = 12), CMAP absent at right side (n = 2) and left side (n = 1) among 22 peroneal nerves; decreased MCV (n = 6), decreased CMAP amplitude (n = 6), CMAP absent at right side (n = 2) and left side (n = 1) among 23 tibial nerves. F-wave was performed for 11 patients and abnormal in 6 patients, with prolonged latency and reduced occurrence rate in right common peroneal nerve (n = 2), left prolonged latency (n = 3) and right tibial nerve (n = 1) respectively. Bilateral sural nerve conduction study revealed no abnormality. CONCLUSION: Diagnosing lumbosacralradiculitis is not easy based on lumbosacral MRI. And neuroelectrophysiological study may provide more valuable information in verifying the location of lesions and judging the damage extent of lumbosacralradiculitis.

Specific electromyography characteristics can distinguish longitudinally extensive transverse myelitis from congestive myelopathy due to spinal dural arteriovenous fistula: a retrospective study.

Aims/Background Although electromyography has been extensively used in the diagnosis of neurological diseases, there is no comprehensive understanding of the electromyography manifestations of spinal dural arteriovenous fistula. Given the widespread use of electromyography in the diagnosis of neurological conditions, it is worthwhile to holistically analyse the electromyography findings of spinal dural arteriovenous fistula to differentiate it from neurological diseases that share similar clinical manifestations. The aim of this study is to evaluate whether electromyography can distinguish spinal dural arteriovenous fistula from longitudinally extensive transverse myelitis. Methods We holistically reviewed files of all patients who were diagnosed with spinal dural arteriovenous fistula or longitudinally extensive transverse myelitis at The First Medical Centre of PLA General Hospital from 1 January 2010 to 31 December 2020. We compared the symptomology, epidemiology, and imaging results of patients with spinal dural arteriovenous fistula and longitudinally extensive transverse myelitis, placing emphasis on their electromyography manifestations. Student's t test was used to analyse normally distributed data, while Chi-square test was used to compare classification statistics. Results Lesions of spinal dural arteriovenous fistula shown on images tend to appear at lower lumbar and sacral segments, whereas lesions of the cervical and upper thoracic segments are more characteristic of longitudinally extensive transverse myelitis. Spinal dural arteriovenous fistula patients and longitudinally extensive transverse myelitis patients overlap in terms of clinical manifestations. After comparison, the two groups of patients had different demographics (age, sex), onset mode, predisposing factors before onset, and electromyographic features. The electromyographic features of patients with spinal dural arteriovenous fistula were associated with neurogenic damage (p < 0.001). Conclusions In patients with spinal dural arteriovenous fistula, electromyography can help clinicians to identify early disease, avoid patient treatment delay, and eliminate unnecessary treatment.

Rituximab maintenance treatment outcomes in patients with relapsing neuromyelitis optica spectrum disorder: a monocentric retrospective analysis.

Some patients with neuromyelitis optica spectrum disorder (NMOSD) experience relapse after rituximab (RTX) treatment. In this retrospective study, we analyzed the recurrence-related clinical features, laboratory investigation results, and dosing protocol of 30 female patients with relapsing NMOSD with immunoglobulin G autoantibodies against aquaporin-4 and relapses during repeated 0.5 g RTX infusions as maintenance treatment. The median follow-up period was 6.62 years. Thirty-five episodes were observed, with myelitis being the most frequent. The median expanded disability status scale change score was 0.50. The recurrence rate decreased by 44.23%/year with RTX infusion. Approximately 85.71% of the patients showed relapse without RTX infusion within 10 months. Overall, RTX may be effective for relapsing NMOSD cases.

Phase I clinical trial of intracerebral injection of lentiviral-ABCD1 for the treatment of cerebral adrenoleukodystrophy.

This was a single-arm, multicenter, open-label phase I trial. Lentiviral vectors (LV) carrying the ABCD1 gene (LV-ABCD1) was directly injected into the brain of patients with childhood cerebral adrenoleukodystrophy (CCALD), and multi-site injection was performed. The injection dose increased from 200 to 1600 µL (vector titer: 1×109 TU/mL), and the average dose per kilogram body weight ranges from 8 to 63.6 µL/kg. The primary endpoint was safety, dose-exploration and immunogenicity and the secondary endpoint was initial evaluation of efficacy and the expression of ABCD1 protein. A total of 7 patients participated in this phase I study and were followed for 1 year. No injection-related serious adverse event or death occurred. Common adverse events associated with the injection were irritability (71%, 5/7) and fever (37.2 â„ƒ-38.5 â„ƒ, 57%, 4/7). Adverse events were mild and self-limited, or resolved within 3 d of symptomatic treatment. The maximal tolerable dose is 1600 µL. In 5 cases (83.3%, 5/6), no lentivirus associated antibodies were detected. The overall survival at 1-year was 100%. The ABCD1 protein expression was detected in neutrophils, monocytes and lymphocytes. This study suggests that the intracerebral injection of LV-ABCD1 for CCALD is safe and can achieve successful LV transduction in vivo; even the maximal dose did not increase the risk of adverse events. Furthermore, the direct LV-ABCD1 injection displayed low immunogenicity. In addition, the effectiveness of intracerebral LV-ABCD1 injection has been preliminarily demonstrated while further investigation is needed. This study has been registered in the Chinese Clinical Trial Registry (https://www.chictr.org.cn/, registration number: ChiCTR1900026649).

Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.

OBJECTIVE: Adult cerebral X-linked adrenoleukodystrophy (ACALD) with initial frontal lobe involvement is a rare genetic disease that is easily misdiagnosed and underdiagnosed. We sought to improve the early identification of such diseases. METHODS: We present three cases of adult X-linked adrenoleukodystrophy (ALD) with initial frontal lobe involvement and identify an additional 13 cases from the database. The clinical and imaging characteristics of the overall sixteen cases were analyzed. RESULTS: The average age of onset was 37 years, with 15 male and 1 female patient. A total of 12 patients (75%) developed a decline in cerebral executive and cognitive functions. Brain trauma is the possible trigger for the onset of ALD in five patients (31%). An elevated level of very-long-chain fatty acids (VLCFA) was observed in all 15 patients on whom a plasma VLCFA was performed.10 patients with gene tests showed different mutation sites in the ABCD1 gene. Brain MRI of six patients (46%) were characterized by frontal lobe "butterfly wings"-like lesions with peripheral rim enhancement. Four patients underwent brain biopsies (patients 1, 3, 15, and 13), and five patients (31%) were initially misdiagnosed (patients 1, 2, 3, 11, and 15). Nine of the patients with follow-up records experienced poor prognoses, and five of them, unfortunately, died (56%). CONCLUSION: ACALD patients with anterior patterns tend to be misdiagnosed. The early clinical manifestation is a decline in cerebral executive and cognitive function. Brain trauma may be a trigger for this pattern. Brain MRI findings are characterized by frontal lobe "butterfly wing"-like lesions with peripheral rim enhancement. The determination of the VLCFA levels and the genetic detection of the causative mutations are required to confirm the diagnosis.

Symptomatic trigeminal autonomic cephalalgias in neuromyelitis optica spectrum disorders.

BACKGROUND: The pathophysiology of trigeminal autonomic cephalalgias (TACs) is poorly understood at present. Symptomatic TACs are rarely reported in neuromyelitis optica spectrum disorders (NMOSD). To better clarify this distinct clinical manifestation in NMOSD and to investigate its possible pathophysiology, we reviewed articles describing such cases including our own case. METHODS: We performed a search of all clinical studies of TACs in NMOSD published up to September 1st, 2022. We put no restrictions on the year of English publication in our search. The following keywords were searched: trigeminal autonomic cephalalgias, cluster headache, short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT), short-lasting unilateral neuralgiform headache with autonomic symptoms (SUNA), hemicrania continua, paroxysmal hemicrania, neuromyelitis optica, neuromyelitis optica spectrum disorder, Devic's disease. RESULT: We reviewed six cases (five published reports and our own case study) that fulfilled the diagnosis of NMOSD and TACs. Four of them were SUNCT, one was SUNA, and one was paroxysmal hemicrania. In three of these cases, headache was the initial sole manifestation. Only one case had a good response to routine TACs' treatment. All these patients had lesions in the medulla oblongata and cervical cord. Three cases' TACs were side-locked, and two of them had a left dorsolateral medulla oblongata lesion that corresponded with the left side TACs, while three cases' headaches happened on either side of the head. The phenomenon could be explained by the activation of trigeminal-autonomic reflex and ephaptic coupling. CONCLUSION: TACs could be the initial sole brainstem manifestation of NMOSD. An underlying cause for SUNCT/SUNA should be considered, especially if there is a limited response to anti-epileptic medication. The activation of trigeminal-autonomic reflex and ephaptic coupling might be the underlying mechanism of symptomatic TACs in NMOSD.

[Prognostic value of aquaporin-4 antibody in patients of inflammatory demyelinating diseases in central nervous system].

OBJECTIVE: To determine the prognostic value of AQP4 antibody in the cohort of Chinese patients with neuromyelitis optical (NMO), HR-NMO (high-risk NMO)and classic multiple sclerosis (MS). METHODS: Sera of patients with NMO, HR-NMO and MS were all investigated for the presence of AQP4 antibody by indirect immunofluorescence in human AQP4-transfected cells. The diagnostic and prognostic values of anti-AQP4 antibody were evaluated in 352 patients with NMO (n=106), HR-NMO (n=84) including optico-spinal MS (OSMS), longitudinally extensive transverse myelitis (LETM), recurrent optic neuritis (RON) and optic neuritis (ON) or transverse myelitis (TM) with other autoimmune disease and classic MS (n=162). All patients were followed up at outpatient clinics or by telephone. RESULTS: In our study, the anti-AQP4 antibody's seropositivity in all demyelinating cases (n=352) was 31.3%. And 72 (65.5%) seropositive patients presented with severe ON, 82 (74.5%) with TM, 60 (54.4%) with spinal-cord lesion more than 3 segments, 16 (14.5%) had relapses of ON and 38 (34.5%) relapses of TM during a follow-up period of 24 months. Significant differences existed between anti-AQP4 antibody seropositivity and seronegative in terms of concurrent severe ON, TM, spinal-cord lesion more than 3 segments and relapses of ON and TM (P<0.05). Also, in NMO patient seropositive for anti-AQP4 antibody (n=78), 28 (35.9%) developed relapses of TM. However, in HR-NMO patient with seropositivity (n=28), 4 (14.3%) developed relapses of ON and 10 (35.7%) relapses of TM. The relapse of ON or TM occurred in 57/110 seropositive patients versus 17/242 seronegative ones (P<0.05). CONCLUSION: As compared with anti-AQP4 antibody-negative ones, anti-AQP4 antibody-positive patients show significantly higher frequencies of severe ON, TM, longitudinal spinal-cord segments and they are more predisposed to ON or TM relapse. And seropositive NMO and HR-NMO patients are more likely to develop relapses of ON or TM. Anti-AQP4 antibody may play some roles in the diagnosis and prognostic predication of demyelinating diseases in central nervous system.

Misdiagnosis of Susac syndrome as demyelinating disease and primary angiitis of the central nervous system: A case report.

Susac syndrome (SuS) is a rare neuroinflammatory disease that manifests with a triad of hearing loss, branch retinal artery occlusions, and encephalopathy. Patients with SuS are frequently misdiagnosed because the clinical trial is incompletely present at disease onset. In this report, we present a case of a 29-year-old man manifesting sleepiness, epilepsy, urinary dysfunction, and hemiparesis at the initial stage. Magnetic resonance imaging (MRI) revealed multiple abnormal signals located in the lateral paraventricular, corpus callosal, and pons. In addition, the patient had sustained elevation of CSF pressure and protein. ADEM was considered according to the clinical and radiographic findings. However, symptoms were not significantly improved after methylprednisolone therapy. He showed a vision decline in the third month after the disease onset. It was considered from intracranial hypertension or optic neuritis, and therefore retinal arteriolar impairment was ignored. As the disease progresses, cognitive decline was presented. Brain MRI exhibits multiple significant hyperintensities on the DWI sequence with speck-like gadolinium enhancement. Thus, PACNS was diagnosed. The SuS was not made until the presence of hearing decline in the 4 months after the disease onset. The case will be helpful for clinicians to better recognize the atypical initial manifestation of SuS.

Bilateral parafalcine cortical and leptomeningeal impairment in MOG antibody disease and AQP4 neuromyelitis optica.

OBJECTIVE: Bilateral parafalcine cortical and leptomeningeal impairment (BPCLI) is a rare finding observed in cases of myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD) and neuromyelitis optica spectrum disorders (NMOSD). The failure to recognize BPCLI may lead to misdiagnosis and delayed treatment. This study aimed to delineate the clinical and imaging characteristics of patients with BPCLI. METHODS: Clinical data from a cohort of 366 patients diagnosed with NMOSD or MOGAD were retrospectively reviewed. Subsequently, the clinical features of the seven patients with BPCLI were analyzed. RESULTS: Of the 366 patients, 33 had MOGAD, whereas 264 were positive for antibodies (Abs) against aquaporin-4 (AQP4) and had NMOSD. BPCLI was detected in five patients (15.1%) with MOGAD and two patients (0.7%) with AQP4-Ab-positive NMOSD. All seven patients (four males) presented with meningoencephalitis-like symptoms at the time of BPCLI. Six patients had seizures, and three of them also presented with fever. Three patients were misdiagnosed with intracranial infection, and one was misdiagnosed with cerebral venous thrombosis. Analysis of the cerebrospinal fluid revealed elevated total protein levels in two patients and increased leukocyte counts in five. In addition to BPCLI, impairments in the hippocampus and corpus callosum were confirmed in one and four patients, respectively. Moreover, five patients exhibited meningeal enhancement, and two showed callosal enhancement. In all cases, BPCLI attacks responded well to high-dose methylprednisolone or immunoglobulin therapy. CONCLUSIONS: BPCLI can be observed in both MOGAD and AQP4 NMOSD. It appears to be characteristic of MOGAD but is relatively rare in AQP4 NMOSD. These findings should be noted to avoid misdiagnosis.

Lower motor neuron involvement in patients with neuromyelitis optica spectrum disorders.

BACKGROUND: Involvement of the central gray matter of spinal cord is a characteristic magnetic resonance imaging (MRI) feature of aquaporin-4-immunoglobulin G antibodies (AQP4-IgG) positive neuromyelitis optica spectrum disorders (NMOSD). However, there has been no systemic electrophysiological study investigating the frequency of lower motor neuron involvement in NMOSD patients. METHODS: We retrospectively reviewed a cohort of 59 NMOSD patients with results of concentric needle electromyography (EMG) and nerve conduction studies (NCS) that were admitted to the Department of Neurology of Chinese PLA General Hospital between January 2016 and December 2019. RESULTS: Acute and/or chronic denervation was found in 22.0% (13/59) of the NMOSD patients by EMG. Peripheral or cranial neuropathy indicated by abnormal NCS changes was found in 11.9% (7/59) of the NMOSD patients. Denervation indicated by EMG that can be accounted for by abnormal NCS was found in 6.8% (4/59) of the NMOSD patients, while 3.4% (2/59) of the NMOSD patients had NCS abnormality without denervation indicated by EMG. Accordingly, 9 of the 59 NMOSD patients (15.3%) had lower motor neuron involvement, and moreover, 6.8% (4/59) of the NMOSD patients had corresponding spinal cord or brainstem lesions on MRI. CONCLUSION: Not uncommon lower motor neuron involvement exists in NMOSD patients, so needle EMG and NCS studies should be performed in NMOSD patients with suspected lower motor neuron involvement.