Behçet's syndrome: recent advances to aid diagnosis.

Behçet's syndrome is a recurring inflammatory multiorgan disorder affecting the skin, mucosa, eyes, joints, stomach, and central nervous system. Behçet's syndrome epidemiology varies greatly among populations (0.64-420/100,000), and Behçet's syndrome has gained increasing international acclaim in the recent 50 years due to raising awareness of the syndrome, although it is rare in most population. In addition to the unclear etiology of the syndrome, the diagnosis of Behçet's syndrome is complicated by a vague clinical presentation, phenotypic heterogeneity and/or incomplete representation, and the lack of any specific laboratory, radiographic, or histological findings. There exists a dire need to elucidate factors that contribute to disease pathogenesis and/or are associated with clinical features of Behçet's syndrome and the classification of different forms of the syndrome. The identification of such molecular, cellular, and/or clinical factors are crucial for timely diagnosis and efficacious management of Behçet's syndrome. We discuss recent advances in the clinical diagnosis of Behçet's syndrome and related contributions of genetics, epigenetics, microbiome, inflammasomes, and autoantibodies to the improved diagnosis, management, and understanding of Behçet's syndrome.

Myelin oligodendrocyte glycoprotein antibody associated central nervous system demyelinating disease: a tertiary center experience from Turkey.

BACKGROUND: To identify the clinical and radiological characteristics of adult patients with myelin oligodendrocyte glycoprotein antibody disease (MOG-AD) in a Turkish cohort. METHODS: Clinical and radiological data were obtained retrospectively. Serological testing was done with fixed and live cell-based assays. RESULTS: Optic neuritis was the most common presenting symptom, and neuromyelitis optica spectrum disorder (NMOSD) without aquaporin-4 antibody (AQP4-IgG) was the most common phenotype. Most patients had a relapsing course. Steroid dependency was common. Conus involvement was a frequent clinical and radiological feature. Radiological features such as long segment involvement and perineural optic nerve gadolinium enhancement were also typical in our cohort. One patient presented with encephalopathy and seizures, pointing out to the importance of testing of myelin oligodendrocyte antibody (MOG-IgG) in such patients as well. CONCLUSION: Myelin oligodendrocyte glycoprotein antibody disease is a heterogeneous clinical entity with characteristic clinical and radiological features. Our single-center experience underlines prominent clinical and magnetic resonance imaging (MRI) features and provides our treatment experiences.

Data of indirect immunofluorescence labeling of the mouse brain sections with sera from SLE and MS patients.

The data presented in this article are related to the research article entitled "Behcet Disease serum is immunoreactive to neurofilament medium which share common epitopes to bacterial HSP-65, a putative trigger" (Lule et a. 2017) [1]. The immunoreactivity to self-antigens is well characterized for systemic lupus erythematosus (SLE) and multiple sclerosis (MS) (Magro Checa et al., 2013) [2]. Indirect immunofluorescence labeling of the mouse tissue sections with patient sera has recently been popular to discover novel epitopes and gain mechanistic insight to diseases with dysregulated immunity (Lennon et al., 2004) [3]. The present article demonstrates widespread labeling of cell nuclei with SLE patient sera and sporadic filamentous labeling along the axons with MS patient sera on mouse brain sections. The filamentous immunolabeling was sometimes associated with cytoplasmic staining of cells, which sent processes along the axon bundles, suggesting that they were oligodendrocytes. Since the mouse brain tissue has little autofluorescence and limited connective tissue causing non-specific immunolabeling, it appears superior to peripheral tissues for searching serum immunoreactivity.

White matter involvement beyond the optic nerves in CRION as assessed by diffusion tensor imaging.

BACKGROUND: Chronic relapsing inflammatory optic neuropathy (CRION) is an inflammatory optic neuropathy, characterized by relapses and remissions in patients with normal brain and spinal magnetic resonance imaging (MRI). Discrepancy from other demyelinating diseases is important, and it is still uncertain whether CRION is restricted to the optic pathways or it affects other brain white matter (WM) structures. OBJECTIVE: To assess WM structure in patients with CRION by using diffusion tensor imaging (DTI). METHODS: DTI was performed in six CRION patients and six age- and sex-matched healthy controls on a 3 T scanner. Tract-based spatial statistics (TBSS) was used for voxelwise statistical analysis of DTI data. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), radial diffusivity (RD) measures were obtained. RESULTS: TBSS analysis revealed two different patterns of WM alterations in patients with CRION. The optic chiasm and connected structures had significantly higher FA and lower RD, AD and MD in the patients than in the healthy controls. On the other hand, anterior frontal bundles of inferior fronto-occipital tracts, left uncinate fascicule and internal capsule showed decreased FA and increased RD. No correlation was found between the clinical variables and diffusion measures. CONCLUSION: WM appearing normal on brain MRI shows widespread abnormalities in a cohort of CRION patients as assessed by DTI.

Acute visual loss: just the beginning?

A 47-year-old man presented with sudden visual loss, optic disk edema, retinal ischemia, and limited upgaze in the left eye. Initial MRI revealed thickened, enhancing left optic nerve. Extensive work-up for an inflammatory and infiltrative etiology was positive only for Borrelia burgdorferi IgM by Western blot. Six weeks later the patient had numbness and weakness on his left side. MRI showed enhancing lesions extending from the left optic nerve to the optic chiasm, along the visual pathways bilaterally, mainly on the right side from optic tract to lateral geniculate body and pulvinar. Stereotactic biopsy of the right pulvinar lesion revealed glioblastoma. The tumor progressed rapidly, and the patient died 11 weeks after the onset of first symptoms.

The Presence of Autoantibodies Against Vascular and Nervous Tissue in Sera From Patients with Neuro-Behçet's Disease.

INTRODUCTION: Behçet's disease is a chronic inflammatory disease of unknown aetiology that affects multiple organ systems. Since the diagnosis of this disease mainly relies on clinical criteria, a diagnostic laboratory test is required especially for neuro-Behçet's patients without systemic involvement. METHOD: In this study, we searched for the presence of autoantibodies against brain tissue, by means of indirect immunofluorescent staining technique in sera obtained from patients with neuro-Behçet's disease, based on reports that humoral immune dysregulation may play a role in susceptibility to Behçet's disease. After pre-absorbtion of sera with guinea pig liver powder to reduce nonspecific staining, serum samples were applied to mouse brain sections and immunoreactivity was detected with fluorescein (FITC)-conjugated goat antibody against human IgG. RESULTS: Ten sera from neuro-Behçet's patients and 10 age-matched control sera were screened for immunoreactivity. We detected specific immunoreactivity to both parenchymal and vascular brain structures in the patients' sera. Parenchymal vessel immunopositivity was detected in 8 of 10 patients, whereas only two of control sera showed no significant parenchymal vascular immunoreactivity (p=.025). In addition to vascular immunoreactivity, filamentous and reticular immunopositive structures were detected in brain sections of 5 out of 10 patients. No such immunoreactivity was detected in sections incubated with control sera (p=.016). CONCLUSION: We detected a specific immunoreactivity against vascular and parenchymal filamentous structures in neuro-Behçet patients' sera. Humoral autoimmunity may play a role in the pathogenesis of neuro-Behçet's disease in addition to cellular immune response. Findings of this preliminary study will be evaluated with a large number of patients and controls, to determine whether it is the cause or the result and, further studies are underway to disclose the nature of epitope to which the immunoreactivity was directed against and to develop a diagnostic laboratory method for investigating central nervous system involvement in Behçet's patients.

Pupillary Involvement in Miller Fisher Syndrome.

Miller Fisher Syndrome is characterised by the classical triad of ophthalmoplegia, ataxia, and areflexia. Ophthalmoparesis without ataxia, without areflexia, or with neither have been attributed as atypical forms of MFS. We report two patients with MFS who had tonic pupils and raised anti-GQ1b antibody titres. Bilateral dilated pupils (either tonic or fixed) can be a manifestation of MFS and anti-GQ1b immunoglobulin G (IgG) antibodies are useful to confirm the diagnosis in unexplained cases. The site of involvement is thought to be the ciliary ganglion or short ciliary nerves.

The yield of preoperative sequential routine scalp EEGs in patients who underwent anterior temporal lobectomy for mesial temporal sclerosis.

Mesial temporal lobe epilepsy syndrome (MTLES) is the most common surgically remediable epileptic syndrome in adults. Its diagnosis is easy when clinical history is supported by positive laboratory findings. However, routine EEG may not be informative in some patients, thus delaying accurate diagnosis. Therefore, we sought to determine how often routine EEGs displayed epileptiform discharges pre-operatively in a group of patients who underwent surgery for MTLES. Retrospectively, we reviewed the outpatient EEG records of MTLES patients who underwent surgery at our epilepsy center between 1997-2008 and had at least one routine pre-operative EEG recording in our outpatient laboratory. For each patient, serial EEGs were coded as normal, displaying nonspecific abnormalities or lateralized and localized interictal epileptiform discharges. Seventy patients were included in the study. We reviewed 230 EEGs. In almost half of the patients (47.1%) all EEGs were normal or revealed nonspecific findings. In patients who had >1 EEG, almost 3 EEGs had to be recorded to detect the epileptiform discharges for the first time and 6.23 years were needed to accomplish this. Sleep deprivation considerably increased the yield. In summary, patients who have a clinical history suggesting MTLES may need at least 3 routine scalp EEG recordings (with at least one of them after sleep deprivation) to detect epileptiform abnormalities and it may take much time. Therefore, a single prolonged outpatient video-EEG monitoring or an overnight inpatient monitoring might be reasonable alternatives to serial EEGs.