Torticollis as an Initial Manifestation of a Seronegative Demyelinating Disorder in a Child: A Case Report

2021 ◽  
Author(s):  
Sandesh Kini ◽  
Yellanthoor Ramesh Bhat ◽  
Lakshmikanth Halegubbi Karegowda
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Case Report ◽  
Demyelinating Disease ◽  
Oligoclonal Bands ◽  
Initial Manifestation ◽  
Demyelinating Disorder ◽  
The Brain

AbstractTorticollis refers to a condition in which the head is persistently tilted to one side, sometimes associated with pain. Torticollis in a child can be congenital or acquired. Torticollis as an initial manifestation of an underlying demyelinating syndrome is quite rare in children. Here, we report a 7-year-old girl who presented with persistent torticollis. Neuroimaging of the brain revealed features of a demyelinating disease. Further studies did not show any evidence of multiple sclerosis. Cerebrospinal fluid was negative for antiaquaporin-4 antibodies, antimyelin oligodendrocyte glycoprotein antibodies, and oligoclonal bands. A seronegative demyelinating disorder was considered. She was treated with pulsed methylprednisolone therapy. She responded well to steroids with no progression of illness during follow-up. Torticollis was partially improved.

scholarly journals Oral Cladribine is Effective in the Treatment of Tumefactive Demyelination in Relapsing Remitting Multiple Sclerosis – A Case Report

2020 ◽  
Vol 14 (1) ◽  
pp. 109-114
Author(s):  
Jihad Said Inshasi ◽  
Pournamy Sarathchandran ◽  
Mona Chetan Thakre ◽  
Nouf Saeed Al Talai ◽  
Reem Al Suwaidi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Report ◽  
Magnetic Resonance ◽  
Immune Reconstitution ◽  
Acute Onset ◽  
Oligoclonal Bands ◽  
Resonance Spectroscopy ◽  
Sensory Level ◽  
Limb Weakness ◽  
The Brain

This case report describes a 32-year old Emirati patient with tumefactive multiple sclerosis (TMS) treated with a short course of cladribine tablets. The patient presented initially with acute onset of progressive gait unsteadiness, lower limb weakness, associated with numbness of four days duration. Neurological examination of right arms and both legs weakness with sensory level at T10. Contrast-enhanced magnetic resonance imaging (MRI) of the brain showed a large tumefactive demyelination with multiple demyelinating lesions in the brain, consistent with a diagnosis of multiple sclerosis. MRI of the spine cervical and dorsal revealed multiple enhancing lesions as well. Cerebrospinal fluid oligoclonal bands were positive, and IgG index was high. Magnetic resonance spectroscopy showed elevation of lactate on short echo time (TE) and elevation of choline on long TE. The patient was treated with pulse steroid followed by oral cladribine as immune reconstitution therapy in the acute phase. The patient showed significant improvement clinically and radiologically to the treatment. The patient was followed up for 2 years and showed excellent resolution of the tumefactive lesion with no new lesions. Immune reconstitution therapy can be an option for treatment of tumefactive demyelination in multiple sclerosis in the acute setting. To our knowledge, there are no reports of the use of immune reconstitution therapies for the treatment of tumefactive lesions in multiple sclerosis.

Antibodies from multiple sclerosis brain identified Epstein-Barr virus nuclear antigen 1 & 2 epitopes which are recognized by oligoclonal bands

2020 ◽  
Author(s):  
Zhe Wang ◽  
Peter GE Kennedy ◽  
Cecily Dupree ◽  
Min Wang ◽  
Catherin Lee ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Isoelectric Focusing ◽  
Demyelinating Disease ◽  
Competitive Inhibition ◽  
Nuclear Antigen ◽  
Oligoclonal Bands ◽  
Igg Antibodies ◽  
Random Peptide ◽  
Barr Virus ◽  
The Brain

Abstract Background Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS), the etiology of which is poorly understood. The most common laboratory abnormality associated with MS is increased intrathecal IgG synthesis and the presence of oligoclonal bands (OCBs) in the brain and cerebrospinal fluid (CSF). However, the major antigenic targets of these antibody responses are unknown. The risk of MS is increased after infectious mononucleosis (IM) due to EBV infection, and MS patients have higher serum titers of anti-EBV antibodies than control populations. Objectives To identify disease-relevant epitopes of IgG antibodies in MS. Methods We screened phage-displayed random peptide libraries (12-mer) with total IgG antibodies purified from the brain of a patient with acute MS. We identified and characterized the phage peptides for binding specificity to intrathecal IgG from patients with MS and from controls by ELISA, phage-mediated Immuno-PCR, and isoelectric focusing. Results Two phage peptides were identified that share sequence homologies with EBV nuclear antigens 1 and 2 (EBNA1 and EBNA2), respectively. The specificity of the EBV epitopes found by panning with MS brain IgG was confirmed by ELISA and competitive inhibition assays. Using a highly sensitive phage-mediated immuno-PCR assay, we determined specific bindings of the two EBV epitopes to IgG from CSF from 46 MS and 5 inflammatory control (IC) patients. MS CSF IgG have significantly higher bindings to EBNA1 epitope than to EBNA2 epitope, whereas EBNA1 and EBNA2 did not significantly differ in binding to IC CSF IgG. Further, the EBNA1 epitope was recognized by OCBs from multiple MS CSF as shown in blotting assays with samples separated by isoelectric focusing. Conclusions The EBNA1 epitope is reactive to MS intrathecal antibodies corresponding to oligoclonal bands. This reinforces the potential role of EBV in the etiology of MS.

scholarly journals Cerebrospinal Fluid Analysis in Multiple Sclerosis Diagnosis: An Update

Medicina ◽  
2019 ◽  
Vol 55 (6) ◽  
pp. 245 ◽  
Author(s):  
Bruna Lo Sasso ◽  
Luisa Agnello ◽  
Giulia Bivona ◽  
Chiara Bellia ◽  
Marcello Ciaccio
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Demyelinating Disease ◽  
Clinical Symptoms ◽  
Current Knowledge ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Oligoclonal Bands ◽  
Csf Biomarkers ◽  
Laboratory Findings

Multiple sclerosis (MS) is an immune-mediated demyelinating disease of the central nervous system (CNS) with brain neurodegeneration. MS patients present heterogeneous clinical manifestations in which both genetic and environmental factors are involved. The diagnosis is very complex due to the high heterogeneity of the pathophysiology of the disease. The diagnostic criteria have been modified several times over the years. Basically, they include clinical symptoms, presence of typical lesions detected by magnetic resonance imaging (MRI), and laboratory findings. The analysis of cerebrospinal fluid (CSF) allows an evaluation of inflammatory processes circumscribed to the CNS and reflects changes in the immunological pattern due to the progression of the pathology, being fundamental in the diagnosis and monitoring of MS. The detection of the oligoclonal bands (OCBs) in both CSF and serum is recognized as the “gold standard” for laboratory diagnosis of MS, though presents analytical limitations. Indeed, current protocols for OCBs assay are time-consuming and require an operator-dependent interpretation. In recent years, the quantification of free light chain (FLC) in CSF has emerged to assist clinicians in the diagnosis of MS. This article reviews the current knowledge on CSF biomarkers used in the diagnosis of MS, in particular on the validated assays and on the alternative biomarkers of intrathecal synthesis.

The contribution of cerebrospinal fluid oligoclonal bands to the early diagnosis of multiple sclerosis

2009 ◽  
Vol 15 (4) ◽  
pp. 472-478 ◽  
Author(s):  
V Zipoli ◽  
B Hakiki ◽  
E Portaccio ◽  
F Lolli ◽  
G Siracusa ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Clinical Practice ◽  
High Risk ◽  
Oligoclonal Bands ◽  
Clinical Settings ◽  
Current Clinical Practice ◽  
Mcdonald Criteria ◽  
Critical Issues

Background McDonald Criteria (MDC) have been validated in selected patients at high risk for multiple sclerosis (MS). However, possible overdiagnosis of MS can represent critical issues in less controlled clinical settings. Objective To assess the contribution of oligoclonal bands (OB) to MS diagnosis in current clinical practice. Methods We included all the patients admitted to our Department since 2001 who had undergone diagnostic workup for a possible MS diagnosis, followed up for at least 1 year. We assessed the accuracy of MDC, OB, and two MDC definitions of dissemination in space (DIS-MRI: fulfillment of MRI criteria, DIS-OB: two MRI lesions+OB). Results We included 118 patients (median follow-up 4.0 years). Twenty-eight cases received an alternative diagnosis, whereas none of these presented OB, 43% fulfilled the DIS-MRI criteria. OB were present in 70% of the remaining 90 patients. By the end of the follow-up, 56% of the diagnoses had converted to clinically definite MS and OB showed higher accuracy than DIS-MRI fulfillment (70% vs 58%). Moreover, after 1 year and at the end of the follow-up, DIS-OB yielded a higher Specificity level in comparison with DIS-MRI. Conclusion OB can improve overall diagnostic Accuracy by increasing Specificity and negative predictive value.

scholarly journals Natalizumab Induces Changes of Cerebrospinal Fluid Measures in Multiple Sclerosis

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2230
Author(s):  
Ranjani Ganapathy Subramanian ◽  
Dana Horakova ◽  
Manuela Vaneckova ◽  
Balazs Lorincz ◽  
Jan Krasensky ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Mixed Models ◽  
Brain Volume ◽  
Oligoclonal Bands ◽  
Volume Loss ◽  
Brain Volume Loss ◽  
Igg Index ◽  
Natalizumab Treatment

Background: There is a lack of knowledge about the evolution of cerebrospinal fluid (CSF) markers in multiple sclerosis (MS) patients undergoing natalizumab treatment. Aim: We aimed to evaluate the effect of natalizumab on basic inflammatory CSF and MRI measures. Methods: Together, 411 patients were screened for eligibility and 93 subjects with ≥2 CSF examinations ≤6 months before and ≥12 months after natalizumab initiation were recruited. The effect of natalizumab on CSF as well as clinical and paraclinical measures was analyzed using adjusted mixed models. Results: Natalizumab induced a decrease in CSF leukocytes (p < 1 × 10−15), CSF protein (p = 0.00007), the albumin quotient (p = 0.007), the IgG quotient (p = 6 × 10−15), the IgM quotient (p = 0.0002), the IgG index (p = 0.0004), the IgM index (p = 0.003) and the number of CSF-restricted oligoclonal bands (OCBs) (p = 0.0005). CSF-restricted OCBs positivity dropped from 94.6% to 86% but 26 patients (28%) had an increased number of OCBs at the follow-up. The baseline to follow-up EDSS and T2-LV were stable; a decrease in the relapse rate was consistent with a decrease in the CSF inflammatory markers and previous knowledge about the effectiveness of natalizumab. The average annualized brain volume loss during the follow-up was −0.50% (IQR = −0.96, −0.16) and was predicted by the baseline IgM index (B = −0.37; p = 0.003). Conclusions: Natalizumab is associated with a reduction of basic CSF inflammatory measures supporting its strong anti-inflammatory properties. The IgM index at the baseline predicted future brain volume loss during the course of natalizumab treatment.

scholarly journals Signs of neuroinflammation outweigh neurodegeneration as predictors for early conversion to MS

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Nervana Mohamed El Fayomy ◽  
Hanan Helmy Mohamed ◽  
Manal Mohamed Kamal ◽  
Aya Hamid Alsayyad ◽  
Enas Hamid Alsayyad ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Clinical Manifestations ◽  
Transcranial Sonography ◽  
Oligoclonal Bands ◽  
Lesion Load ◽  
Demyelinating Disorder ◽  
Significant Difference ◽  
A Prospective Study ◽  
Ultrasonographic Assessment

Abstract Background The pathophysiological mechanisms underlying multiple sclerosis include both inflammatory and degenerative processes. We aimed to study and compare markers of neuroinflammation and neurodegeneration in patients with first presentation of demyelinating disorder and to prospectively identify which of the studied markers serve as predictors for early conversion to multiple sclerosis. Thus, 42 patients with first clinical manifestations suggestive of demyelinating disease were included in a prospective study. Subjects underwent thorough history taking and clinical evaluation. Laboratory studies involved analysis of cerebrospinal fluid (CSF) and serum chitinase 3-like 1 levels. Brain imaging included MRI and ultrasonographic assessment. Results T1 black holes, elevated oligoclonal bands (OCB), high baseline T2 lesion load, and enhanced MRI lesions were significantly higher in patients with 1st attack multiple sclerosis. Significantly higher CSF-OCB and serum chitinase 3-like 1 protein was detected in patients with multiple sclerosis (MS) compared to clinically isolated syndrome, and higher levels in MS convertors than non-convertors. Cognitive dysfunction evaluated by MoCA test and brain atrophy assessed using transcranial sonography did not show significant difference among the studied groups. Logistic regression analysis showed that heavy T2 lesion load served as the only predictor of conversion to MS. Conclusion Early conversion to MS after first attack of demyelination is related to detection of signs of neuroinflammation rather than neurodegeneration.

scholarly journals Oligoclonal bands in the cerebrospinal fluid and increased brain atrophy in early stages of relapsing-remitting multiple sclerosis

2012 ◽  
Vol 70 (8) ◽  
pp. 574-577 ◽  
Author(s):  
Juan Ignacio Rojas ◽  
Liliana Patrucco ◽  
Santiago Tizio ◽  
Edgardo Cristiano
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Brain Atrophy ◽  
Disease Onset ◽  
Oligoclonal Bands ◽  
Matter Volume ◽  
Early Stages ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

OBJECTIVE: To determine if the presence of oligoclonal bands (OB) at early stages of multiple sclerosis was associated with higher brain atrophy, when compared with patients without OB. METHODS: Relapsing-remitting multiple sclerosis (RRMS) patients with less than two years of disease onset and OB detection in cerebrospinal fluid (CSF) were included. SIENAX was used for total brain volume (TBV), gray matter volume (GMV), and white matter volume (WMV). RESULTS: Forty patients were included, 29 had positive IgG-OB. No differences were found between positive and negative patients in gender, expanded disability status scale (EDSS), treatment received, and T2/T1 lesion load. TBV in positive IgG-OB patients was 1.5 mm³ x 10(6) compared with 1.64 mm³ x 10(6) in the negative ones (p=0.02). GMV was 0.51 mm³ x 10(6) in positive IgG-OB compared with 0.62 mm³ x 10(6) in negative ones (p=0.002). No differences in WMV (p=0.09) were seen. CONCLUSIONS: IgG-OB in the CSF was related to neurodegeneration magnetic resonance (MR) markers in early RRMS.

scholarly journals Adjuvant hypofractionated partial-brain radiation therapy for pediatric Ewing sarcoma brain metastases: case report

2016 ◽  
Vol 17 (4) ◽  
pp. 434-438 ◽  
Author(s):  
Ritchell van Dams ◽  
Henry S. Park ◽  
Ahmed K. Alomari ◽  
Adele S. Ricciardi ◽  
Harini Rao ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Case Report ◽  
Ewing Sarcoma ◽  
Tumor Resection ◽  
Symptomatic Treatment ◽  
Reasonable Approach ◽  
Inflammatory Changes ◽  
Brain Radiation ◽  
The Brain

This case report demonstrates that hypofractionated partial-brain radiation therapy with limited margins is a reasonable approach following gross tumor resection of Ewing sarcoma metastases to the brain. The patient presented with 2 intracranial metastases treated with gross-total resection followed by radiation therapy to 30 Gy in 5 fractions. The patient experienced symptomatic treatment-related inflammatory changes with resolution after receiving dexamethasone. He remains alive at 21 months of follow-up with no evidence of disease.

scholarly journals Pediatric Multiple Sclerosis in Portugal: A Multicentre Study

2016 ◽  
Vol 29 (7-8) ◽  
pp. 425 ◽  
Author(s):  
Ana Sofia Correia ◽  
Luís Augusto ◽  
Joana Meireles ◽  
Joana Pinto ◽  
Ana Paula Sousa
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Brain Magnetic Resonance Imaging ◽  
Oligoclonal Bands ◽  
Childhood Onset ◽  
Multicentric Study ◽  
Pediatric Multiple Sclerosis ◽  
Adolescent Groups ◽  
Reported Data ◽  
Cerebrospinal Fluid Pleocytosis

Introduction: Multiple sclerosis is most often diagnosed among young adults but less frequently it may present during childhood or adolescence. In Portugal, there has been only one previous single-center, pediatric multiple sclerosis study. The main objective was the evaluation of the demographic, clinical, laboratorial and neuroradiological characteristics of patients with pediatric-onset multiple sclerosis in Portugal. The secondary objectives were to compare the characteristics of childhood-onset multiple sclerosis and adolescent-onset multiple sclerosis and to characterize the treatments prescribed.Material and Methods: We performed a retrospective observational, multicentric study. We reviewed data of all patients with multiple sclerosis younger than 18 years at the onset of their first multiple sclerosis symptoms.Results: There were 46 patients (72% female) included with a mean age at diagnosis of 16.1 years. Six cases had childhood-onset and 40 cases had adolescence-onset. The median value of Expanded Disability Status Scale was two. Relapsing-remitting multiple sclerosis was most prevalent (98% of cases). In the cerebrospinal fluid study, 74% of patients had positive oligoclonal bands. Brain magnetic resonance imaging studies showed a predominant supratentorial involvement (98% of cases), whereas the cervical segment was the most frequently affected in the spinal cord. All the patients enrolled in the study underwent immunomodulatory therapy, 75% ofpatients with beta-interferon. Concerning differences between the childhood and the adolescent groups, we found a greater proportion of male patients and of individuals with cerebrospinal fluid pleocytosis among the childhood-onset group.Discussion: This study provides new data on pediatric multiple sclerosis characteristics in Portugal and our results are similar to previously reported data in other parts of the worldConclusion: This is the first multicentric study characterizing pediatric multiple sclerosis in Portugal. The mechanisms underlying the particularities of pediatric multiple sclerosis remain largely unknown and further studies are required.

scholarly journals Tumefactive Multiple Sclerosis Clinically Mimicking Acute Stroke and Lesional Migration Along the Biopsy Tract: A Case Report

2019 ◽  
Vol 19 (2) ◽  
pp. 148-153
Author(s):  
Oranan Tritanon ◽  
Arunee Singhsnaeh ◽  
Jiraporn Laothamatus ◽  
Atthaporn Boongird ◽  
Disya Ratanakorn ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Acute Stroke ◽  
Demyelinating Disease ◽  
Internal Capsule ◽  
Chronic Inflammatory Cell ◽  
Left Frontal Lobe ◽  
Lentiform Nucleus ◽  
Mri Study ◽  
Tumefactive Multiple Sclerosis

Tumefactive multiple sclerosis is a form of demyelinating disease which patient can present with acute stroke. We reported a case of a 49-year-old woman with well controlled hypertension, who presented with right hemiplegia 15 hours prior to admission. The initial diagnosis of acute stroke was made. Emergency computed tomography showed hypodense lesion at the left lentiform nucleus and posterior limb of the left internal capsule. The magnetic resonance imaging (MRI) study showed hyperintense FLAIR lesion in the left lentiform nucleus, left internal capsule, left thalamus, and periventricular area of the left frontoparietal region, some areas of restricted diffusion and inhomogeneous enhancement. The MR spectroscopy (MRS) of the lesion showed increased choline peak, decreased creatine and NAA peaks, and maximal choline to creatine ratio 2.25. Her symptoms deteriorated with progressive headache and motor aphasia. The follow up MRI showed extension of the inhomogeneous enhancing lesion along the biopsy tract at the left frontal lobe with the enhancing and MR spectra pattern similar to the lesion. The craniotomy with left frontal lesion excision included the mass and the biopsy tract was done. The lesion showed acute and chronic inflammatory cell infiltration with macrophages, necrotic tissue and reactive gliosis. The further pathological worked up demonstrated foci of demyelination with relative axonal preservation, numerous CD68+ macrophages with intracyto-plasmic Luxol fast blue(+) myelin debris. Perivascular and parenchymal CD3+ T-cells were identified, especially in demyelinating foci. These findings supported the diagnosis of tumefactive multiple sclerosis. Her conditions were improved after treating with pulse methylprednisolone and intravenous immunoglobulin (IVIG). Follow up MRI study 4 months after treatment revealed almost resolution of the preexisting inhomogeneous enhancing lesion.

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