2017年 · 第50卷第10期

idiopathic inflammatory demyelinating diseases (IIDD) of the central nervous system (CNS) are a group of CNS demyelinating diseases that are related to immunity, or have genetic predisposition, and pathologically are mainly demyelinating and inflammatory cell infiltration. They mainly include multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), concentric circle sclerosis, (acute) disseminated encephalomyelitis and other different clinical phenotypes. autoimmune encephalitis (AE) refers to a class of encephalitis mediated by autoimmune antibodies, mainly including anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, limbic encephalitis (LE), other AE syndromes, etc.^[1,2]。 Because different clinical phenotypes of IIDD can have some similarities with AE in clinical and imaging manifestations, especially in prodromal symptoms and main symptoms (such as cognitive impairment, dyskinesia, epilepsy, and decreased consciousness level), it is easy to misdiagnose each other in early clinical. Therefore, it is necessary to grasp the diagnosis and differentiation of the two. The following is a comparative analysis of the clinical symptoms, imaging and other auxiliary examinations of the two.

Guillain-Barré syndrome (GBS), a subtype of pharyngocervical brachial plexus, is mainly characterized by rapidly progressing weakness of pharyngocervical muscles, cervical muscles and upper limb muscles, and relatively preserved muscles and sensation of lower limbs. Some studies have also found that it can slightly involve lower limbs, with sensory impairment, extraocular muscle paralysis, active tendon reflex, ataxia and even disturbance of consciousness. Electrophysiology is mainly axonal degeneration of peripheral nerves. Because it is extremely rare in clinic, it is easily misdiagnosed as brainstem stroke, myasthenia gravis and other diseases. We report the clinical, electrophysiological and immune characteristics of 3 cases diagnosed as pharyngocervicobrachial plexus subtype GBS and review the literature, hoping to improve everyone's understanding of this disease.

lipid storage myopathy (LSM) is a metabolic myopathy caused by the oxidation defect of long chain fatty acids and the abnormal storage of a large number of lipid components in muscle cells. This disease is autosomal recessive^[1]It is mostly a slow onset in adolescents, and the course of the disease can reach several months to several years. It mainly involves the skeletal muscles of the limbs, showing proximal symmetric muscle weakness, mainly involved in limb band muscles, and can be accompanied by muscle atrophy and muscle swelling and pain. Cervical muscles, masticatory muscles, swallowing muscles and tongue muscles can be involved^[2]。 Creatine kinase is often increased in the onset or fluctuation of the disease course, which is easily misdiagnosed as polymyositis in clinic^[3]Rhabdomyolysis. The abnormal lipid deposition in muscle fibers found by muscle biopsy is an important basis for the diagnosis of this disease. The vast majority of LSM in China are riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (RR-MADD), and the mutation of electron-transporting flavin protein dehydrogenase (ETFDH) is the molecular pathological basis of RR-MADD^[4]。 We performed a retrospective analysis of 9 patients with LSM, summarizing their clinical history, electromyography, skeletal muscle and liver pathology, second-generation sequencing molecular pathology.

relapsing polychondritis (RP) is a rare autoimmune disease with unknown etiology. Its lesions mainly involve organs such as ears, nose, eyes, throat, trachea, joints, heart valves and connective tissues such as blood vessels^[1]； RP combined with central nervous system disease is even more rare^[2]。 We report a patient with RP complicated with autoimmune encephalopathy, and analyze the relevant literature to improve the understanding of its clinical manifestations, diagnosis, differential diagnosis and treatment.

IgLON5 is a neural cell adhesion protein. In 2014, the first case of anti-Iglon5 antibody encephalopathy was reported abroad^[1]Because of the chronic process and prominent sleep disorder of the disease, it is often misdiagnosed as a degenerative disease of the nervous system in clinic. At present, there are few related reports of this disease at home and abroad. Now, a patient encountered in our clinic is described as follows.

Meningocele is a herniation of cranial contents due to congenital or acquired factors^[1]。 Skull base meningocele accounts for 25% of all meningoceles. According to the anatomical site of herniation, it is divided into five types: frontal-ethmoid, sphenoid-orbital, sphenoid-maxillary sinus, nasopharyngeal, and auditory canal^[2]。 According to the different etiology, it can be divided into primary and acquired, and the acquired factors include inflammation, tumor, trauma, etc. In patients with temporal lobe epilepsy, a small number of patients are caused by temporal meningocele, and some of these patients are drug-refractory. A systematic preoperative evaluation is needed to evaluate the benefit of surgery and the extent of surgical resection. So far, the best surgical resection remains controversial^{[3,4,5,6,7,8,9,10,11,12]}There is no clear standard for simple herniated brain tissue resection, or the herniated part is disconnected from the medial temporal lobe structure, or the herniated part plus the temporal pole, amygdala, and medial temporal lobe structure resection. We report a case of drug-refractory temporal lobe epilepsy diagnosed and treated in the epilepsy center of our hospital with temporal pole meningocele combined with sulcus dysplasia.

histiocytic sarcoma (HS) is a rare malignant tumor originating from the mononuclear phagocytic system, accounting for less than 1% of lymphohematopoietic tumors. HS most often involves lymph nodes, while HS originating from the central nervous system is extremely rare. At present, only more than 10 cases have been reported, and most of the lesions are located in the brain parenchyma. We report a case of HS originating from the cavernous sinus.

neurosyphilis (neurosyphilis) is a chronic infectious disease caused by Treponema pallidum invading the central nervous system. It can involve the brain parenchyma, meninges, spinal cord or blood vessels, etc. The lesions are extensive, the clinical manifestations are complex and diverse, and it is difficult to identify. The misdiagnosis rate is high. It has long been called a "super imitator"^[1]。 Neurosyphilis can be primarily manifested by dyskinesia. The most common dyskinesia is Parkinson's syndrome, and others such as dystonia, chorea, ataxia and myoclonus^[2,3,4]。 Among them, facial dystonia, such as relatively continuous, relatively slow and regular rhythmic contractions of masticatory muscles, is called "candy sign". In 2013, Martinelli first proposed that the candy sign could be used as a symptom for the diagnosis of neurosyphilis^[5], 2017, Marto inNeurologyCases of neurosyphilis diagnosed with Candy sign are reported in^[6]。 However, there are no reports on candy sign in Asian population at present, so clinicians have insufficient understanding of it, which is easy to cause misdiagnosis. We retrospectively analyzed the clinical manifestations, EEG and cranial imaging features of a patient with neurosyphilis with candy sign as the main manifestation admitted to Zhongnan Hospital of Wuhan University, in order to provide reference for clinical diagnosis and treatment.

Mitochondrial encephalomyopathy with lactatemia and stroke-like attacks (MELAS) syndrome is one of the subtypes of mitochondrial diseases, with stroke-like attacks, migraine-like attacks, convulsions, short stature, cardiomyopathy, hearing loss, and diabetes as the main manifestations^[1]。 MELAS is more common in adolescents and very rare after the age of 50^[1,2]Those over 60 years old are even rarer. Only cases have been reported abroad, but no relevant reports have been seen in China. The clinical data of a 62-year-old patient with MELAS episode admitted to our hospital are presented for reference.

Brucellosis, also known as wave fever, is a zoonotic infectious allergic disease caused by Brucella. Its clinical manifestations are long-term fever, hyperhidrosis, joint pain, hepatosplenomegaly, etc. The neurological involvement of the disease can occur in the early stage of the disease, in the recovery stage, or even after several months or years of acute infection, often with a subacute or chronic onset. The most common manifestation is meningitis, followed by meningoencephalitis, simple encephalitis, and rare spinal cord lesions. Now, a patient with brucellosis meningitis admitted to our hospital was not thoroughly treated, and the report of brucellosis myelopathy was published after prolongation as follows.

chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a class of immune-mediated chronic motor-sensory peripheral neuropathy. The disease is relatively common worldwide, with an incidence of (1~9) /100,000^[1]。 According to the clinical presentation, CIDP can be classified into classical and variant types. Classical CIDP presented with symmetrical limb weakness and sensory impairment, attenuation or disappearance of tendon reflexes, chronic progression or remission recurrence of course and lasting ≥8 weeks. European Neurological Society/Peripheral Neurology Society Diagnostic Criteria 2010^[2]Variants of CIDP were classified into distal acquired demyelinating symmetric, asymmetric (Lewis-Sumner syndrome), pure motor, pure sensory and focal.

Cerebrovascular disease has become the first cause of death in China in recent years^[1]Moreover, it is the main cause of long-term disability in adults, and its high morbidity, disability and mortality have become global public health problems^[2]。 In recent years, more and more studies have found that intestinal flora imbalance is not only closely related to gastrointestinal diseases, such as irritable bowel syndrome, ulcerative colitis, colon cancer, etc^[3,4,5]It also plays an important role in the pathological process of endocrine and metabolic diseases, such as obesity, insulin resistance and atherosclerosis. Intestinal flora imbalance is not only closely related to the risk factors of stroke such as obesity, hypertension, hyperlipidemia, diabetes, etc., but also can affect the occurrence and prognosis of stroke through various mechanisms. We reviewed the influence of intestinal flora dysbalance on the pathogenesis of chronic metabolic diseases and stroke and its mechanism, which provided new ideas for the prevention and treatment of stroke, and intestinal flora may become a new target for stroke treatment.

vertebrobasilar dolichoectasia (VBD) is an arterial lesion characterized by abnormal dilatation, curvature, and lengthening of the vertebral and basilar arteries^[1,2]The incidence rate is about 0.05% ~18%^[3]。 At present, the diagnosis of VBD mostly uses imaging criteria^[4]。 VBD can cause a variety of neurological deficits, including cranial nerve compression, brainstem compression, hydrocephalus, ischemic stroke, subarachnoid hemorrhage and central sleep apnea syndrome^[2,5,6]。 Although the neuroradiological and pathological features of VBD have been studied extensively by relevant scholars^[6,7]However, its etiology and pathogenesis are still unclear. The possible causes and pathogenesis of VBD are reviewed.

hepatitis E virus (HEV) is a single-stranded RNA virus, which is the pathogen of hepatitis E. Up to now, four main HEV genotypes have been found. Genotype 1 and genotype 2 are mainly prevalent in the population, and genotype 3 and genotype 4 are zoonotic pathogens^[1]。 HEV patients in Europe are mainly genotype 3, while in China, they are mainly genotype 1 and 4. China is one of the countries with high incidence of HEV infection, and there have been many outbreaks. From 1986 to 1988, HEV polluted drinking water in southern Xinjiang, with 119 280 cases and 707 deaths. It is the largest epidemic of hepatitis E in the world so far^[2]。 At present, sporadic cases are mainly caused by food contamination^[1]。 Hepatitis E is usually acute and self-limiting. 90% of acute infections have no obvious clinical symptoms, and a few may be manifested as abdominal pain, nausea, jaundice and other hepatitis symptoms. The overall prognosis is good^[3]。 However, HEV infection in the elderly, pregnant women and patients with chronic liver disease may lead to severe hepatitis, with a mortality rate of up to 25%^[4]。 HEV infection in immunosuppressed people such as organ transplantation and AIDS patients may form persistent infection or chronic hepatitis^[4]。

anoctaminopathy is a group of autosomal recessive inherited skeletal muscle diseases with different clinical phenotypes caused by abnormal expression of anoctamin 5 protein caused by mutation of ANO5 gene. At present, anoctaminopathy is considered to be one of the common causes of autosomal recessive limb girdle muscular dystrophy (LGMD), Miyoshi myopathy dystrophy (MMD) and asymptomatic hypercreatine kinasemia. So far, hundreds of cases have been reported abroad, and 1 case was confirmed by genetic testing in China in 2017^[1]。 We reviewed the latest research progress in etiology, clinical phenotype, muscle pathology, imaging examination and genetic testing of anoctaminopathy to provide a reference for clinical identification and differentiation of this disease.

Parkinson's disease is a common neurodegenerative disease. Its main pathological changes are the massive loss of dopaminergic neurons in substantia nigra and the formation of Lewy bodies in residual neurons. At present, the diagnosis of Parkinson's disease is mainly based on the patient's medical history, physical signs and other clinical data, and the misdiagnosis rate is high. Through biomarkers, it is helpful to improve the accuracy of diagnosis of Parkinson's disease, early diagnosis before exercise, monitoring disease progression, and evaluating the efficacy of treatment methods. Because Parkinson's disease is a synucleinopathy, a series of studies on detecting α-synuclein as a biomarker of Parkinson's disease by humoral fluid specimens, histological biopsy (biopsy) specimens and molecular imaging techniques have made significant progress in recent years. We review the current research status of alpha-synuclein as a biomarker of Parkinson's disease.