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  • 1.

    【2hr】Moyamoya Disease May Mimic Multiple Sclerosis?

    包量

    机译 烟雾病可能模仿多发性硬化症吗？
    摘要：Introduction A wide range of medical conditions may mimic multiple sclerosis. Among them, cerebrovascular diseases, including moyamoya disease, need to be excluded since they share common clinical features and radiographic findings with multiple sclerosis.
  • 2.

    【2hr】Hemorrhagic Stroke in a Young Adult with Undiagnosed Asymptomatic Dandy–Walker Malformation

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    机译 患有未确诊无症状丹迪-沃克畸形的年轻成年人的出血性中风
    摘要：The Dandy–Walker Malformation was first described in 1914 by Dandy and Blackfan and is characterized by hypoplasia of the vermis, pseudocystic fourth ventricle, upward displacement of the tentorium, torcular and lateral sinuses, and anteroposterior enlargement of the posterior fossa. This syndrome commonly manifests as hydrocephalus in children, though rare adult cases have been reported. The literature reveals adult symptomatology including brainstem infarction, psychosis, and neuromuscular disease. Stroke is an exceptionally rare presentation of this malformation, with only one ischemic event reported in the literature. This case offers a rare opportunity for diagnosis in an adult presenting with a hemorrhagic stroke of the basal ganglia in an otherwise asymptomatic young adult male. To the best of our knowledge, this is the first reported case of a hemorrhagic stroke in an adult patient with Dandy–Walker Malformation.
  • 3.

    【2hr】Extraneural Metastasis of Primary Glioma Occurring in a Setting of Occupational Ionizing Radiation Exposure

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    机译 职业性电离辐射暴露下发生的原发性神经胶质瘤的神经外转移
    摘要：Malignant gliomas account for 60% of all primary brain tumors in adults. Glioblastoma Multiforme (GBM) is the most common primary glial tumor with a dismal prognosis and a median survival of approximately 14 months. Extra-neural metastases from primary brain tumors are unusual with an incidence rate of less than 2%. This has been attributed to factors such as short survival, lack of true lymphatics in the CNS, and physical barriers provided by the dura, extracellular matrix, and basement membrane. Although most GBMs occur sporadically, there is a known association with therapeutic radiation exposure and with work in nuclear disaster cleanup. To our knowledge, no case of GBM with metastasis occurring in a patient with occupational radiation exposure currently exists in the literature. In this article, we present a case of GBM with lung metastasis occurring in a 51-year-old Caucasian male, whose history is significant for occupational exposure to ionizing radiation, and review the literature on GBM risk factors and potential mechanisms of metastasis.
  • 4.

    【2hr】Reversible MR Findings in Marchiafava-Bignami Disease

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    机译 Marchiafava-Bignami病中可逆的MR发现
    摘要：Marchiafava-Bignami Disease (MBD) is a toxic demyelinating disease often diagnosed in chronic alcoholics. The disease process typically involves the corpus callosum and clinically presents with various manifestations resulting in MBD type A and type B on the basis of clinical condition, extent of callosal involvement and extracallosal involvement at brain magnetic resonance imaging (MRI), and prognosis. The death rate is high. We report a patient affected by MBD type B, who presented an isolated reversible splenial lesion at brain MRI and achieved a favorable recovery.
  • 5.

    【2hr】Targeted Transforaminal Epidural Blood Patch for Postdural Puncture Headache in Patients with Postlaminectomy Syndrome

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    机译 有针对性的经椎间孔硬膜外补血治疗椎板切除术后综合征患者的硬膜外穿刺头痛
    摘要：Postdural puncture headache is a leak of cerebrospinal fluid that lowers intracranial pressure and usually presents as a positional headache. If conservative treatments are not successful, the epidural blood patch is the gold standard of the treatment for dural puncture. The interlaminar approach is the most commonly used technique for an epidural blood patch. This case report describes a patient who was treated with a transforaminal epidural blood patch for postdural puncture headache following an acupuncture procedure on his lower back after two epidural blood patches using an interlaminar approach had failed. The patient underwent an acupuncture therapy for management of chronic low back pain due to postlaminectomy syndrome. After the procedure, the patient had a severe headache and the conservative treatment was not effective. The two interlaminar epidural blood patches at the L2–3 level and at the L3–4 level were failed. We performed transforaminal epidural blood patch at the L3–4 and L4–5 levels on the left side, the site of leakage in the MRI myelogram. His symptoms finally subsided without complication. This case demonstrates that targeted transforaminal epidural blood patch is a therapeutic option for the treatment of postdural puncture headache when epidural blood patch using an interlaminar approach is ineffective.
  • 6.

    【2hr】A Rare Case of Cyclophosphamide-Induced Posterior Reversible Encephalopathy Syndrome in a Patient with Anti-GBM Vasculitis, and Review of Current Literature

    包量

    机译 抗GBM血管炎患者中环磷酰胺诱发的后可逆性脑病综合征罕见病例及最新文献复习
    摘要：Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome of headache, altered mental status, and seizures with reversible mainly posterior leukoencephalopathy on neuroimaging. Precipitating factors for PRES are multifactorial and include autoregulatory failure due to changes in blood pressure, metabolic derangements, and cytotoxic medications. We report the second case of cyclophosphamide-induced PRES in a patient with anti-glomerular basement membrane (Anti-GBM) positive vasculitis. In the acute setting, PRES can be challenging to distinguish from cerebral venous sinus thrombosis or cerebral vasculitis based on clinical presentation. Neuroimaging with magnetic resonance imaging (MRI) of the brain along with a vessel imaging, can help reach the diagnosis.
  • 7.

    【2hr】Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis

    包量

    机译 伴有视神经病变的特征性视神经病变。
    摘要：We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness. Brain magnetic resonance imaging revealed bilateral swelling in the optic nerves with gadolinium-enhancement suggesting optic neuritis, an enlarged fourth ventricle, atrophy of the cerebellum, and hyperintensities in the bilateral dentate nuclei. The patient was diagnosed with cerebrotendinous xanthomatosis (CTX) based on an elevated serum cholestanol level and a homozygous missense mutation in CYP27A1. CTX is a genetic lipid storage disease caused by dysfunction of the mitochondrial enzyme sterol 27-hydroxylase. With respect to ophthalmological manifestations, juvenile cataracts and optic neuropathy are common findings in patients with CTX, but there have been no reports of optic neuropathy with features suggestive of optic neuritis. Thus, this case illustrates that clinicians should consider a diagnosis of CTX in patients with cardinal features of CTX even if the patients show signs indicative of optic neuritis.
  • 8.

    【2hr】Transient Dyschromatopsia, Static Form Agnosia, and Prosopagnosia Observed in a Patient with Anti-NMDA Receptor Encephalitis

    包量

    机译 在抗NMDA受体脑炎患者中观察到短暂性色盲，静态形式失认和前体发育不全
    摘要：We presented a case of a 19-year-old woman who suffered from anti-N-methyl-D-aspartate (NMDA) receptor encephalitis associated with ovarian teratoma. The patient showed a variety of higher visual symptoms which changed over the recovery phase of the disease. In chronological order, she experienced cortical blindness, amblyopia, dyschromatopsia, static form agnosia, and prosopagnosia. Among these symptoms, the most intriguing was the static form agnosia. Although she could recognize the forms of moving objects, she could not make out those of stationary ones. All of these visual symptoms were transient, implying that she might have incidentally regained the function of the distinct cortical visual areas in the time course of follow-up. This case further suggests that visual functions concerned with the perceptions of static form and form-from-motion could be dissociable and may rely on distinct brain regions.
  • 9.

    【2hr】New Onset British Accent, Acute Behavioral Changes, and Seizures: A Unique Presentation of NMDAR Encephalitis

    包量

    机译 新发作的英国口音，急性行为改变和癫痫发作：NMDAR脑炎的独特表现
    摘要：The leading cause of autoimmune encephalitis is N-methyl-D-aspartate receptor (NMDAR) encephalitis. Symptoms can present as prominent behavioral abnormalities prompting inaccurate psychiatric diagnoses. Psychiatric features such as bizarre behavior, agitation, anxiety, delusions, and hallucinations are well noted in the current literature, but a manifestation of foreign accent syndrome has, to our knowledge, never been reported in cases of encephalitis. Once diagnosed, initiation of therapy can result in effective treatment. Here, we present a case of a 32-year-old female with new onset seizures and marked behavioral changes, such as speaking in a foreign accent, who was empirically treated for NMDAR encephalitis due to strong clinical suspicion, showed no improvement with first line therapy with IVIG and IV steroids, and finally had rapid resolution of symptoms with the early initiation of second line therapy of rituximab. In a young female presenting with nonspecific behavioral changes, NMDAR encephalitis should be on the differential and, although CSF antibodies are definitively diagnostic, there should be a low threshold to start empiric therapy and escalate to second line treatment.
  • 10.

    【2hr】On Neuropsychiatric Manifestations of Basal Ganglia Injury: A Report of Three Cases and Literature Review

    包量

    机译 基底节神经损伤的神经精神病表现：三例报告并文献复习
    摘要：The basal ganglia have been considered to primarily play a role in motor processing. A growing body of theoretical and clinical evidence shows that in addition to the motor functions the basal ganglia play a key role in perceptual and visual disturbances. This role may be evident in patients with basal ganglia pathology and subsequent manifestation of symptoms that include cognitive, perceptual, and affective disturbances. We present three cases with basal ganglia pathology that demonstrate affective and psychotic symptoms. Two of the cases presented with late onset psychotic disturbances suggesting likely neurological etiologies. The third case presented with treatment refractory psychosis and symptoms that are rare for a diagnosis of schizophrenia. The role of incidental bilateral basal ganglia calcifications in all the cases is discussed. A review of current literature highlighting various neuropsychiatric manifestations of basal ganglia pathologies in various patients with psychiatric symptoms is presented.
  • 11.

    【2hr】Paraneoplastic Opsoclonus Myoclonus in a Patient with Pancreatic Adenocarcinoma

    包量

    机译 胰腺腺癌患者的副肿瘤性肌阵挛性肌阵挛
    摘要：Opsoclonus myoclonus syndrome (OMS) is an extremely rare neurological syndrome typically affecting as few as 1 in 10,000,000 people annually. OMS is characterized by the presence of involuntary, saccadic eye movements, as well as ataxia, including gait incoordination, rigidity, and tremor. The origin of OMS is unclear, but a significant percentage of OMS cases are indicative of an underlying malignancy, most commonly neuroblastoma and small cell lung cancer. Here we describe an adult patient with OMS, who was ultimately diagnosed with a small ductal adenocarcinoma of the pancreas. To our knowledge, this is the third published report of an association between OMS and pancreatic malignancy, and the only case where the pancreatic malignancy was detected prior to metastasis or autopsy at death. This case report highlights the importance of careful, aggressive malignancy screening with OMS, as the pancreatic duct cut-off sign may be overlooked if pancreatic malignancy is not suspected.
  • 12.

    【2hr】A Case of Tick-Borne Paralysis in a Traveling Patient

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    机译 一名旅行病人的滴答-瘫痪病例
    摘要：Background Tick paralysis is a neurotoxic tick-borne illness that causes ascending paralysis and may lead to respiratory failure. Patients often undergo extensive testing and prolonged hospitalization before the proper diagnosis is reached.
  • 13.

    【2hr】A Co-Occurrence of Serologically Proven Myasthenia Gravis and Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome

    包量

    机译 血清学证明的重症肌无力和格林-巴雷综合征的咽-颈-臂-臂变异共同出现
    摘要：We report on a co-occurrence case of ocular myasthenia gravis with exacerbation leading to myasthenic crisis in addition to pharyngeal-cervical-brachial variant of Guillain–Barré syndrome in a patient with severe oropharyngeal dysphagia and acute respiratory failure.
  • 14.

    【2hr】Transient Global Amnesia as the Sole Presentation of an Acute Stroke in the Left Cingulate Gyrus

    包量

    机译 短暂性全球失忆症是左扣带回急性发作的唯一表现
    摘要：We discuss a patient who presented to our hospital with signs, symptoms, and clinical course consistent with transient global amnesia (TGA). Her hospital work-up was overall unremarkable except for the presence of a diffusion weighted imaging (DWI) abnormality on MRI suggestive of acute infarction in the left cingulate gyrus. Symptoms quickly resolved, and she was discharged home in stable condition. While the etiology of TGA remains controversial, in discussing this case and the current literature we hope to provide further data supporting the possibility of an underlying ischemic process, as well as help better illustrate the neurologic structures involved.
  • 15.

    【2hr】Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

    包量

    机译 运动与电疗法结合可增强青少年III型脊髓性肌萎缩症的运动功能
    摘要：Background Electrotherapy is widely used in physical therapy to increase muscle mass, improve motor function, and assist physical activity in several neurologic conditions. However, concerning Spinal Muscular Atrophy (SMA), limited evidence exists on the role of electrotherapy as an adjunct for improving muscle strength and function.
  • 16.

    【2hr】Transient Periictal Brain Imaging Abnormality in a Saudi Patient with Probable Celiac Disease Epilepsy and Occipital Calcification Syndrome

    包量

    机译 一名可能患有乳糜泻癫痫和枕骨钙化综合征的沙特患者的短暂性周围脑成像异常
    摘要：Celiac disease epilepsy and occipital calcification (CEC) syndrome is a rare, emerging disease first described in 1992. To date, fewer than 200 cases have been reported worldwide. CEC syndrome is generally thought to be a genetic, noninherited, and ethnically and geographically restricted disease in Mediterranean countries. However, we report the first ever case of probable CEC in a Saudi patient. Furthermore, the patient manifested a magnitude of brain magnetic resonance imaging (MRI) signal abnormalities during the periictal period which, to the best of our knowledge, has never been described in CEC. The brain MRI revealed diffusion-weighted imaging (DWI) restriction with a concordant area of apparent diffusion coefficient (ADC) hypointensity around bilateral occipital area of calcification. An imbalance between the heightened energy demand during ictal phase of the seizure and unadjusted blood supply may have caused an electric pump failure and cytotoxic edema, which then led to DWI/ADC signal alteration.
  • 17.

    【2hr】Slightly Symptomatic Cerebral Amyloid Angiopathy-Related Inflammation with Spontaneous Remission in Four Months

    包量

    机译 轻度症状性脑淀粉样血管病相关炎症并自发缓解四个月
    摘要：Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare variant of CAA with autoimmune inflammation. A 77-year-old female experienced light-headedness during walking and mild ataxic gait without any other objective neuropsychological deficits. Brain magnetic resonance imaging (MRI) revealed an area of abnormal signal and mild parenchymal swelling in the right parietal lobe, indicating vasogenic edema. T2⁎-weighted gradient echo imaging revealed some subcortical microbleeds in the same lesion. Based on the proposed criteria for CAA-ri, she was diagnosed with probable CAA-ri. After 4 months, the spontaneous improvement was noted in the patient's clinical and radiological findings. This report presents a rare and atypical case of CAA-ri in which the diagnosis was established after the patient underwent neuroimaging for only mild neurological symptoms, and the patient's clinical and radiological findings displayed spontaneous improvement. Despite typical and striking MRI findings of CAA-ri, this patient only presented a minimal symptom; this dissociation could highlight the significance of not misinterpreting any new neurological symptoms. Thus, increased availability of MRI and growing awareness of CAA-ri might result in more incidentally diagnosed cases in the future. Furthermore, this case suggests that it would be better to strictly monitor the clinical-radiological findings of patients with probable CAA-ri who only present with minimal symptoms without the initiation of immunosuppressive therapy.
  • 18.

    【2hr】Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with Small-Cell Lung Cancer

    包量

    机译 小细胞肺癌患者继发于Nivolumab和Ipilimumab的Lambert-Eaton重症肌无力综合征
    摘要：We present a case of a 59-year-old male with a confirmed diagnosis of small-cell lung cancer (SCLC). He had progressive disease even after four cycles of cisplatin and etoposide chemotherapy and 21 cycles of radiation. He was therefore started on immunotherapy with nivolumab every 2 weeks and ipilimumab every 6 weeks. After 4 months of starting immunotherapy, he reported extreme fatigue, muscular weakness, and poor appetite. He was diagnosed with hypothyroidism, primary adrenal insufficiency, and Lambert-Eaton Myasthenic Syndrome (LEMS). LEMS can be both a paraneoplastic syndrome of SCLC and an adverse effect of immunotherapy. Currently, there is no diagnostic test available to determine if a case of LEMS is a paraneoplastic syndrome or immunotherapy-related adverse effect. In our patient, we felt that LEMS was an immunotherapy-related adverse effect rather being a paraneoplastic syndrome. Our determination was based on the time of onset of muscular weakness, presence of other immunotherapy-mediated adverse events, and the appearance of symptoms in spite of SCLC that had been stabilized on immunotherapy. Accordingly, immunotherapy was stopped and a brief tapering course of steroids was initiated. Our patient's muscular weakness from LEMS responded well. His clinical improvement persisted even with radiologic progression of disease after cessation of immunotherapy.
  • 19.

    【2hr】CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

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    机译 CPEO和线粒体肌病的患者DGUOK复合杂合性致病性变异和mtDNA多次删除。
    摘要：The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. Here we report the case of a 42-year-old Italian woman presenting with a chronic progressive external ophthalmoplegia and myopathy with mtDNA multiple deletions and the compound heterozygous c.462T>A (p.Asn154Lys) and c.707+2T>G pathogenic variants in DGUOK.
  • 20.

    【2hr】Successful Clipping of a Giant Anterior Inferior Cerebellar Artery Aneurysm with Combined Transpetrosal Approach

    包量

    机译 联合经股动脉入路成功切除巨大的前小脑下动脉瘤
    摘要：Background The anterior inferior cerebellar artery (AICA) aneurysms are rare lesions whose treatment can be challenging. There are only a few previous reports of surgical treatment for such lesions.
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