Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a rare immune-mediated inflammatory disease of central nervous system reported in recent years, and its specific biological marker is anti-GFAP autoantibody. In this paper, the etiology, pathogenesis, clinical manifestations, auxiliary examination and treatment of the disease are comprehensively expounded, so as to improve the understanding of clinicians, especially neurologists.

Hemophilia is an X-linked recessive inherited bleeding disorder. Despite the improved treatment in recent years with the advent of replacement therapies, the progression of atherosclerosis is not slowed down after the reduction of clotting factors in hemophilia. As life expectancy increases, more hemophilia patients will suffer from age-related cardiovascular diseases. Since cardiac surgery needs heparinization and cardiopulmonary bypass (CPB), it is extremely challenging to balance hemostasis and coagulation in patients with hemophilia. Here we report three cases of hemophilia patients who underwent cardiac surgery successfully.
Cardiac Surgical Procedures/adverse effects* ; Cardiopulmonary Bypass ; Hemophilia A/complications* ; Humans

To report a typical case of Morvan syndrome with positive anti-leucine rich glioma-inactivated 1(LGI1) and contactin-associated protein 2 (CASPR2) antibodies in serum and cerebrospinal fluid. A 39-years-old female initially presented weakness of extremeties. The main symptoms included paroxysmal limb pain, wheezing, itching, muscle twitching, epilepsy, hypomnesia, dysphoria, apathy, intractable insomnia, salivation and sweating. Tests of electrolytes found hypokalemia (2.7-3.1 mmol/L) and hyponatremia (130-136 mmol/L). Arterial blood gas analysis showed hypoxemia (oxygen saturation 50%-70%). Total thyroxine (TT4) was elevated to 207 nmol/L with positive thyroid peroxidase antibody (TPO-Ab) and thyroglobulin antibody (TG-Ab). LGI1and CASPR2 antibodies (CBA method) were positive in both serum and cerebrospinal fluid, and the remaining antibodies related to autoimmune encephalitis and paraneoplastic syndrome were negative. Head MRI was almost normal, while mild abnormalities were found in electroencephalogram. Electromyography showed slightly increased voltage of left quadriceps motor unit potential. After treated with corticosteroids, IVIG and mycophenolate mofetil, the patient completely improved. Cognitive function scores recovered from MoCA/MMSE (16/24) to MoCA/MMSE (26/29). Positivity of LGI1/CASPR2 antibodies both in serum/cerebrospinal fluid are rarely seen in patients with Morvan syndrome. Steroids and immunosuppressants are suggested for treatment as early as possible.

Primary angiitis of the central nervous system is relatively rare. In recent years, research of the disease in neuroimaging, differential diagnosis, treatment and other aspects advanced greatly. This paper provided a systematic review of this disease entity in order to promote neurologists, neurosurgeons and radiologists′ experience in the diagnosis and treatment of the disease.

Objective:To establish a tissue based assay and in-house cell based assay combined system to screen anti-metabotropic glutamate receptor 1 antibodies in a case of previously idiopathic encephalitis with prominent cerebellar ataxia and make the final diagnosis, and to summarize and analyze clinical characteristics and treatment response of the disease.Methods:A middle-aged woman admitted to Department of Neurology, People's Liberation Army General Hospical Accredited to the Sixth Medical Center in January 9, 2020, who presented with acute dizziness, unsteady gait and developed head titubation, repeated language and calculation impairment was reported. The patient′s serum and cerebrospinal fluid were firstly tested with commercial kits for conventional neural antibodies.Then samples were incubated with rat hippocampus, cerebellum and human embryonic kidney 293 cells transfected with metabotropic glutamate receptor 1 plasmid to screen extra antibodies by indirect immunofluorescence method. By reviewing literature, physical functions of metabotropic glutamate receptor 1 and clinical features of anti-metabotropic glutamate receptor 1 antibodies associated encephalitis were summarized.Results:The patient was neural antibodies negative with commercial kits. Further investigation showed neuropil staining pattern after her serum and cerebral spinal fluid were incubated with rat brain slices. The characteristic "Medusa head" staining pattern of Purkinje cells in cerebellum was also noticed. Along with her previous head titubation symptom, an in-house cell based assay using human embryonic kidney 293 cells transfected with metabotropic glutamate receptor 1 plasmid was developed and proved the existence of anti-metabotropic glutamate receptor 1 antibodies. The final diagnosis of anti-metabotropic glutamate receptor 1 antibodies associated encephalitis was made. One-year follow-up revealed her serum antibodies titers dramatically decreased and cerebrospinal fluid antibodies were negative after using steroids and intravenous immunoglobulin, but still left prominent cerebellum atrophy and severe ataxia.Conclusions:Anti-metabotropic glutamate receptor 1 antibodies may cause acute encephalitis. Cerebellar ataxia and head titubation are characteristic symptoms of metabotropic glutamate receptor 1 autoimmunity. The response to immunotherapies is limited and patients may have severe neurological deficits.

Objective To evaluate the injury of retinal microstructure using optical coherence tomography (OCT) and investigate the role of aquaporin 4 antibody (AQP4 Ab) in this injury process.Methods Forty patients with neuromyelitis optica spectrum disorders (NMOSD) were retrospectively studied,each of whom reported at least one episode of optic neuritis (ON),namely 59 ON eyes involved in all.All patients were divided into two subgroups based on AQP4 Ab tests including 25 patients (37 ON eyes) with AQP4 positive (Ab+/NMOSD group) and 15 patients (22 ON eyes) negative (Ab-/NMOSD group).In addition,10 healthy controls (20 eyes) matched for age and sex (HC group) were analyzed.Spectral domain optical coherence tomography (SD-OCT) was used to quantify peripapillary retinal nerve fiber layer (RNFL).Nonparametric test was used to compare differences between groups.Results Age distribution and gender ratio were comparable in three groups (P＞0.05).Visual acuity in ON eyes of Ab+/NMOSD group was worse than that of Ab-/NMOSD group (P=0.02).There were no significant differences between Ab+/NMOSD and Ab-/NMOSD in aspects of disease duration (2.6 vs.1.9 year),ON episodes (2 vs.1),longitudinal extensive transverse myelitis (LETM) ratio (48.0％ vs.66.7％),NMOSD specific intracranial lesions ratio (32.0％ vs.53.3％),positive autoimmune antibody ratio (52.0％ vs.20.0％) (P=0.13,0.08,0.25,0.18,0.06,respectively).The thickness of temporal,superior,nasal,inferior and average RNFL in ON eyes of both Ab+/ NMOSD and Ab-/NMOSD group were thinner than those in eyes of HC group (all P＜0.05).The thickness of superior and inferior RNFL in ON eyes of Ab+/NMOSD were 61.0 μm and 62.0 μm,which was thinner than those of Ab-/NMOSD 94.5 μm and 97.0 μm (P=0.03 and 0.01,respectively).Conclusions RNFL reflects the injury of retinal microstructure in NMOSD patients.AQP4 Ab seropositivity is correlated to the severity of RNFL damage,implying the potential role of AQP4 Ab in this pathological process.

To explore the clinical characteristics and imaging features of miliary tuberculomas in central nervous system (CNS).A total of 5 cases diagnosed with tuberculosis in CNS first diagnosed by neurologists in Navy General Hospital of PLA were enrolled in the study.All clinical and imaging data were collected and analyzed retrospectively.The main initial symptoms were fever and headache (4/5).Multiple diffused miliary lesions were shown by brain MRI,with maximum diameter ranged from 1-4 mm and ringshape or nodular enhancement after gadolinium injection.As mycobacterium tuberculosis could seldomly be found in serum and cerebrospinal fluid,contrast MRI remains the effective method for detecting miliary tuberculomas in CNS.

Objective To explore the prognostic factors for inability to walk independently in patients with multiple system atrophy (MSA).Methods A total of 123 patients with clinically confirmed MSA admitted to Navy General Hospital and Dongfang Hospital affiliated to the Second Clinical Medical College of Beijing University of Chinese Medicine , from February 2013 to February 2016, were retrospectively reviewed .Clinical data and all records were collected and all subjects were followed up by a telephone call in February 2016.The second milestone of activities of daily living scale (ADL), defined as inability to walk independently , was taken as the primary outcome .Eight possible prognostic factors were investigated and the survival analysis was performed with Cox proportional hazards model regression .Results Of all the MSA patients, 74 subjects were men and 49 were women with a sex radio of 1.51∶1(M∶F).Seventy cases were diagnosed with MSA-cerebellar type ( MSA-C ) and 53 with MSA-Parkinson type ( MSA-P ) (C∶P=1.32∶1).Mean age at the onset of first symptom was (53 ±8) years old.All patients had severe autonomic nervous dysfunction . At the last follow-up, 56 cases ( 45.5%) were unable to walk independently .The median survival time from the onset of MSA to inability to walk independently was 73 months.The age of onset ≥55 years (HR=1.969, 95%CI 1.095-3.542, P=0.024) and the interval time from disease onset to combined motor and autonomic involvement ≤3 years ( HR =2.308, 95%CI 1.158-4.600, P=0.017) were independent prognostic factors for inability to walk independently ,while gender, MSA clinical subtypes, initial symptoms, alcohol intake, smoking and toxic exposure were not indicators for independent walking (P>0.05).Conclusions The prognostic factors for inability to walk independently in patients with MSA are the age of onset ≥55 years and the interval time from disease onset to combined motor and autonomic involvement≤3 years.Although factors including gender , MSA clinical subtypes , initial symptoms , alcohol intake , smoking and toxic exposure are not the predictive factors for inability to walk independently in our MSA patients , their roles in the prognosis of MSA still need further investigation .

Objective To explore the clinical characteristics of the neuromyelitis optica spectrum disorders (NMOSD) with the area postrema syndrome as the initial symptom.Methods A total of 14 cases were enrolled in the study with the diagnose of NMOSD and the area postrema syndrome as the initial symptom.All the clinical data and imaging profiles by the contrasted magnetic resonance imaging (MRI) of the head and spinal cord were collected and analyzed.Results The median age of onset was (38.1 ± 17.0)years old and the gender ratio of female to male was 10:4.The serum aquaporin-4 (AQP4)-IgG was positive in 11 subjects and several autoimmune antibodies was positive in 7 subjects.The lesions revealed by MRI of the head mainly located in the area postrema and ependymal periphery which often presented as the linear medullary lesion,while linear lesions over three pieces of vertebra were shown by MRI of the spinal cord which mainly in the grey matter and with aH shape around the spinal central canal.Misdiagnose happened in 11 subjects with seven of gastroesophageal reflux disease,two of neurogenic vomiting,one of spinal cord tuberculosis and one of stroke.Conclusions NMOSD should be considered in patients with unexplained intractable nausea,vomiting and/or hiccups lasted for 48 hours or above,especially in those with positive nervous signs.Contrasted MRI and serum AQP4-IgG need to be performed in the suspected patients.Early detection is crucial for patients with NMOSD.