2017年 · 第50卷第02期

With the efforts of the expert committee, after more than one year of drafting, discussion, consultation and supplementary revision, the Expert Consensus on Diagnosis and Treatment of Autoimmune Encephalitis in China^[1](hereinafter referred to as the "Consensus") was finalized and published in this issue. Ten years ago, the discovery of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis opened a new page in clinical neuroimmunology^[2]； One year ago (February 2016), international diagnostic pathways and criteria for autoimmune encephalitis were studied in Lancet Neurology (The Lancet Neurology) Online publication of the magazine^[3]； Now that "Consensus" is published in the Chinese Journal of Neurology, it may be a commemorative "coincidence" for the neurology community in China.

myasthenia gravis (MG) is a neuromuscular transmission disorder that causes organ-specific autoimmune diseases due to autoantibody binding to postsynaptic membrane components of the nerve-muscle junction (NMJ), mainly acetylcholine receptors (AChR)^[1,2,3,4]。 The incidence of MG is (0.3~2.8) /100,000, and it is estimated that there are about 700,000 patients worldwide^[5]。 The clinical manifestations of MG are complex and diverse, with multiple clinical subtypes^[6,7], therapy always faces great challenges.

myasthenia gravis (MG), as a neuromuscular transmission disorder, has an incidence of (0.3~2.8) /100,000^[1]。 In recent years, the progress of MG treatment, especially immunotherapy, has greatly improved the prognosis of MG patients^[2]。 June 29, 2016 atNeurologyThe electronic edition of the journal publishes the first formal international consensus guidance for management of myasthenia gravis to date^[3]。 In October 2015, the first author of this article was invited by Professor Donald Sanders to visit Duke University Medical Center again during his academic visit to Yale University in the United States. Professor Sanders introduced the formulation process and the first draft content of the international consensus on MG management in detail, hoping that the consensus could attract the attention of Chinese neurologists.

Encephalitis is a neurological dysfunction caused by diffuse or multiple inflammatory lesions of the brain parenchyma. Its pathological changes mainly involve gray matter and neurons, but also involve white matter and blood vessels. autoimmune encephalitis (AE) generally refers to a class of encephalitis mediated by autoimmune mechanisms. AE combined with related tumors are called paraneoplastic AE; The paraneoplastic AE that conforms to borderline encephalitis is called paraneoplastic borderline encephalitis^[1]。

About 2/3 of myasthenia gravis (MG) patients have extraocular muscle weakness as the first symptom^[1], manifested as ptosis, diplopia and ophthalmoplegia, etc. Cholinesterase inhibitor test, repeated electrical nerve stimulation (RNS), serum acetylcholine receptor antibody (AChR-Ab) and muscle specific tyrosine kinase antibody (MUSK-Ab) detection are routine auxiliary examinations for the diagnosis of MG. However, early diagnosis of MG in some routine tests, about 50% are negative results, and it is difficult to confirm the diagnosis. In addition, clinical electrophysiological examination and serum antibody detection often cannot be completed immediately. Some children are difficult to cooperate with electrophysiological examination, and others cannot undergo cholinesterase inhibitor drug tests because of drug contraindications, resulting in some MG patients who only have symptoms of extraocular muscle palsy. It is difficult to get early diagnosis. At present, there are many studies on the diagnostic value of bedside examination (fatigue test, eyes closed rest test, orbital ice test, sleep test) for MG ptosis^[2,3,4]But many neurologists are underaware. Our research group Jing Jun et al^[5]The sensitivity and specificity of fatigue test, orbital ice test, rest test and neostigmine test for the diagnosis of MG ptosis were compared. The highest sensitivity was found in 20 min orbital ice test, and the highest specificity was found in 2 min rest test and neostigmine test. We intend to further compare these bedside examinations (fatigue test, closed eye rest test, orbital ice test, sleep test) with the classical examination methods such as neostigmine test, RNS, AChR-AB and Musk-AB test, and evaluate the sensitivity and specificity of this series of examination methods for autoimmune MG in the onset of extraocular muscle palsy, so as to improve the early diagnosis efficiency of MG.

autoimmune encephalitis (AE) generally refers to a class of encephalopathy caused by immune response to central nervous system antigens. The main clinical manifestations are acute or subacute seizures, cognitive impairment and psychiatric symptoms. AE antibodies can be divided into two categories: one is anti-neuronal cell surface antigen antibodies, represented by anti-N-methyl-D-aspartate receptors antibodies, and the others are anti-glycine receptors, metabotropic glutamate receptors, leucine-rich glioma-inactivated protein 1, gamma-aminobutyric acid B receptors, α-amino-3-hydroxy-5-methyl-4-isoα-amino-3-hydroxy-5-methyl-4-iso xazolepropionic acid receptor antibodies and the like; One class is anti-neuronal intracellular antigen antibodies, represented by anti-Hu antibodies, including anti-YO, Ri, Ma2, CV2 [i.e., anti-collapsin response mediatorprotein 5 (CRMP5)], neuronal synaptic vesicles (amphiphysin), glutamic acid decarboxylase antibodies, and the like. Clinically, the former is the main one, while the latter is relatively rare. About 40 cases of anti-MA2 antibody related AE have been reported abroad, but only one case has been reported in China^[1]AE related to anti-amphiphysin antibodies have only been reported in China at present^[2]。 We retrospectively reported two patients with AE related to anti-neuronal intracellular antigen antibody (anti-MA2 and anti-amphiphysin antibody) admitted and diagnosed in our hospital, summarized their clinical characteristics, and reviewed relevant literature to improve the clinical understanding of this type of AE.

Lateral bulbar infarction is a common type of brainstem infarction, but it is rarely reported at home and abroad with urinary retention. Here, we report a case of lateral bulbar infarction with urinary retention as follows.

Neurocutaneous melanosis is a rare congenital disease caused by abnormal development of black cells or ectoderm of the neural crest during the embryonic period. It is characterized by congenital giant pigmented nevus of the skin and melanocyte proliferative lesions of the central nervous system. The clinical data of a patient with neurocutaneous melanosis admitted to our hospital are reported below for clinical reference.

Reversible posterior encephalopathy syndrome (PRES) is a clinical-imaging syndrome characterized by reversible gray/white matter involvement in the posterior part of the brain caused by multiple etiologies. It mostly involves the bilateral parieto-occipital lobes, but can also involve other sites, such as frontotemporal lobe, basal ganglia, cerebellum, thalamus and brainstem, while PRES with simple brainstem involvement is relatively rare^[1,2]。 We recently diagnosed and treated a patient with PRES similar to pontocardiac infarction, which is now reported as follows.

Since 2004 Lennon et al.^[1]NMO-IgG was detected in the sera of some patients with neuromyelitis optica (NMO) and patients suspected of paraneoplastic subacute multifocal neuropathy, and it was found that NMO-IgG selectively binds to aquaporin-4 (AQP4) located on the foot processes of astrocytes in the central nervous system (CNS). Serum AQP4-IgG is considered to be a specific biomarker of NMO, and NMO is considered to be a representative of a new class of ion channel diseases^[2]。 In 2006, Wingerchuk revised the diagnostic criteria for NMO to include optic neuritis and acute myelitis as prerequisites for the diagnosis of NMO^[3]Clinically, some patients with optic neuritis or acute myelitis only meet some of the diagnostic criteria of NMO, but their serum AQP4-IgG is positive. Subsequently, Wingerchuk et al.^[4]Serum AQP4-IgG positive optic neuritis or acute myelitis were encompassed using neuromyelitis optica spectrum disorders (NMOSD). With the deepening of the study of the pathological mechanism of NMO, NMO has gradually been recognized as an autoimmune astrocytosis rather than a CNS demyelinating disease^[5,6,7]。 In recent years, a large number of clinical studies have found that AQP4-IgG can also appear in the sera of patients with involvement in other parts of the CNS, including the extreme posterior region, brainstem, diencephalon or cerebral hemisphere. In 2015, new diagnostic criteria expanded the disease spectrum of NMOSD, clarifying that all patients with CNS involvement and serum AQP4-IgG positivity belong to NMOSD^[8]。 In addition, AQP4-IgG was detected in the sera of patients with some tumors (such as breast cancer, lung cancer, etc.) complicated with optic neuritis or myelitis, and evidence of autoimmunity of tumor AQP4 was found^[9,10]。

neuromyelitis optica spectrum disorders (NMOSD) is a serious disabling autoimmune inflammatory demyelinating disease of the central nervous system (CNS). Recurrence and severe disability of the spinal cord and/or optic nerve is a difficult research point at present^[1]。 Recent studies have suggested that aquaporin-4 (AQP4) antibody (AQP4-IgG) is a biomarker closely related to the pathogenesis of NMOSD. However, immunopathogenesis in AQP4-IgG-negative patients is often difficult to explain. Although it has been pointed out that myelin oligodendrocyte glycoprotein antibody (MOG-Ab) produces unique clinical features in AQP4-IgG-negative patients, the influencing factors of NMOSD recurrence cannot be fully analyzed. The International Neuromyelitis Optica (NMO) Diagnostic Group revised the diagnostic criteria for NMOSD in 2015 and classified them according to serum AQP4-IgG test results, including AQP4-IgG positive, AQP4-IgG negative, and NMOSD without AQP4-IgG detection. The diagnostic criteria for each of the above subgroups were revised in combination with core clinical symptoms and additional imaging features^[2]。 Therefore, combined with clinical practice, the author reviewed the pathogenesis, clinical characteristics and influencing factors of NMOSD relapse.

epilepsy is a common disabling disease of the nervous system. At present, antiepileptic drugs (AEDs) are all aimed at the control of epileptic seizure symptoms. So far, 20% ~40% of epilepsy patients are still insensitive to AEDs and become drug-resistant epilepsy (DRE)^[1]。 The etiology of epilepsy is complex and diverse, and more and more studies support that some epilepsy, especially DRE, may be an autoimmune epilepsy (AE)^[2]。 AE is a group of paroxysmal encephalopathies caused by the etiology involved or partially involved by autoantibodies, or by the immune response caused by cytotoxic T lymphocytes, attacking the nerve tissue of the cerebral cortex. It is a controllable, treatable and preventable disease, and early immunomodulatory treatment may be effective. Previous literatures have also used inflammatory epilepsy, neural-specific antibody positive epilepsy, immunity mediated epilepsy, autoantibody mediated epilepsy, and the like to express this concept^[3]。 In the International Alliance Against Epilepsy (ILAE) new edition of the epilepsy classification^[4]It is defined as epilepsy with evidence of autoimmune-induced inflammation of the central nervous system (epilepsy with evidence of auto-immune mediated central nervus system inflammation), And in 2013 in its official magazineEpilepsiaThis concept was used in the article to introduce the diagnosis and treatment of AE^[5]。

The insula is an important part of the limbic system, and its function is very complex. Recent studies have shown that insula not only participates in the acquisition of basic emotions and perceptual information, but also participates in the cognitive process of higher emotions. Because of its deep anatomical position, the subdivision and specific functions of insula are still rarely studied at home and abroad. Therefore, we will make a review on insula function.