scholarly journals Susac syndrome misdiagnosed as multiple sclerosis with exacerbation by interferon beta therapy

2017 ◽  
Vol 31 (2) ◽  
pp. 207-212 ◽  
Author(s):  
Hussein Algahtani ◽  
Bader Shirah ◽  
Muhammad Amin ◽  
Eyad Altarazi ◽  
Hashem Almarzouki
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Hearing Loss ◽  
Magnetic Resonance ◽  
Interferon Beta ◽  
Young Patients ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Susac Syndrome ◽  
Retinal Artery

Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. She had the classic magnetic resonance imaging appearance, with normal magnetic resonance imaging of the spinal cord and absence of oligoclonal bands in the cerebrospinal fluid. Our patient responded well to treatment with a combination therapy and discontinuation of interferon beta-1a. Our observations raise awareness about the importance of the early and correct diagnosis of Susac syndrome, which usually affects young patients, with an excellent prognosis if treated aggressively at an early stage of the disease. Susac syndrome is underdiagnosed and is not uncommonly misdiagnosed as multiple sclerosis. Susac syndrome is a great mimicker of multiple sclerosis, and establishing diagnostic criteria for this syndrome is very useful. In any patient presenting with a progressive disabling neurological disorder associated with callosal lesions and/or hearing loss, and/or visual loss especially in women, Susac syndrome should be suspected.

Susac syndrome: outcome of unilateral cochlear implantation

2011 ◽  
Vol 125 (8) ◽  
pp. 856-858 ◽  
Author(s):  
N Grover ◽  
O J H Whiteside ◽  
J D Ramsden
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hearing Loss ◽  
Magnetic Resonance ◽  
Cochlear Implantation ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Ophthalmological Examination ◽  
Resonance Imaging ◽  
Susac Syndrome ◽  
Retinal Artery

AbstractObjective:Susac syndrome comprises a triad of vestibulocochlear dysfunction, retinopathy and multifocal encephalopathy, which is characterised pathophysiologically by microangiopathy of the ear, retina and brain. Diagnosis is confirmed by magnetic resonance imaging of the brain and ophthalmological examination, which reveals branch retinal artery occlusion. Hearing loss persists in 90 per cent of patients. We present a case of successful hearing rehabilitation by cochlear implantation in a young woman with this syndrome.Clinical presentation:A 36-year-old woman presented with neurological symptoms suggestive of encephalitis. She subsequently developed vestibulocochlear symptoms. The diagnosis was confirmed upon magnetic resonance imaging and fluorescein angiography, which showed multiple peripheral retinal arterial occlusions. Hearing loss was fluctuant but gradually progressive over nine months, to bilateral profound sensorineural hearing loss.Intervention:A left cochlear implant was placed, with a good outcome.Conclusion:In this Susac syndrome patient, the outcome of cochlear implantation was encouraging, notwithstanding the possible involvement of retrocochlear pathways.

Progressive Spasticity With a Single Magnetic Resonance Imaging Lesion

2021 ◽  
pp. 20-21
Author(s):  
Samantha A. Banks ◽  
Eoin P. Flanagan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Fluid Analysis ◽  
Skin Cancers ◽  
Clinical Episode ◽  
History Of ◽  
The Right

A 59-year-old White man with a history of excised basal and squamous cell skin cancers was evaluated for gait difficulties. He had erectile dysfunction but no bowel or bladder dysfunction. He also reported fatigue. He began using a cane for ambulation 2 weeks before evaluation at our facility. His medications included vitamin D and sildenafil. He was a lifelong nonsmoker and had no family history of multiple sclerosis. Neurologic examination at the time of our evaluation 3 years after onset was notable for a positive Hoffman sign on the right and mild weakness of the right triceps but preserved strength elsewhere. He had a spastic gait with moderate spasticity in both lower extremities, hyperreflexic patellar and ankle jerks bilaterally, and bilateral positive Babinski sign. The remainder of the examination was essentially normal. Magnetic resonance imaging of the brain showed a single lesion at the cervicomedullary junction and medullary pyramids, more prominent on the right. There was also some accompanying atrophy that was also visible on cervical spine magnetic resonance imaging. Results of cerebrospinal fluid analysis showed a normal white blood cell count, increased protein concentration (108 mg/dL), and positive oligoclonal bands. The progressive nature of his symptoms, spinal fluid results, and lesion appearance were all consistent with a diagnosis of progressive solitary sclerosis. At the time this patient was seen, no immunomodulatory medications for progressive solitary sclerosis were approved, so no immunomodulatory medication was tried. Ongoing symptomatic management was recommended. Progressive solitary sclerosis is a rare variant of multiple sclerosis in which patients have a single central nervous system demyelinating lesion and development of motor progression attributable to that lesion. Patients can initially have a clinical episode followed by progression or can have a progressive course without an initial relapse.

Interferon-beta-1b effects on re-enhancing lesions in patients with multiple sclerosis

2005 ◽  
Vol 11 (6) ◽  
pp. 658-668 ◽  
Author(s):  
S Gupta ◽  
J M Solomon ◽  
T A Tasciyan ◽  
M M Cao ◽  
R D Stone ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Natural History ◽  
Interferon Beta ◽  
Resonance Imaging ◽  
Post Contrast ◽  
Contrast Magnetic Resonance Imaging ◽  
Contrast Magnetic Resonance ◽  
Degree Of Severity

Interferon-beta (IFNβ) reduces the number and load of new contrast-enhancing lesions (CELs) in patients with multiple sclerosis (MS). However, the ability of IFNβ to reduce lesion sizes and re-enhancements of pre-existing CELs has not been examined extensively. Activity of contrast re-enhancing lesions (Re-CELs) and contrast single-enhancing lesions (S-CELs) were monitored in ten patients with relapsingremitting (RR) MS. These patients underwent monthly post-contrast magnetic resonance imaging (MRIs) for an 18-month natural history phase and an 18-month therapy phase with subcutaneous IFNβ-1b, totaling 37 images per patient. The activity was analysed using the first image as a baseline and registering subsequent active monthly images to the baseline. There was a 76.4% reduction in the number of CELs with IFNβ therapy. The decrease was greater (P=0.003) for S-CELs (82.3%) than for Re-CELs (57.4%). S-CELs showed no changes in durations of enhancement and maximal lesion sizes with treatment. Exclusively for Re-CELs, IFNβ-1b significantly decreased maximal lesion sizes, total number of enhancement periods and total months of enhancement. Thus, IFNβ appears to be effective in reducing the degree of severity of inflammation among Re-CELs, as reflected by their reduced maximal lesion sizes and durations of enhancement.

scholarly journals Oligoclonal bands increase the specificity of MRI criteria to predict multiple sclerosis in children with radiologically isolated syndrome

2019 ◽  
Vol 5 (1) ◽  
pp. 205521731983666 ◽  
Author(s):  
Naila Makhani ◽  
Christine Lebrun ◽  
Aksel Siva ◽  
Sona Narula ◽  
Evangeline Wassmer ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Diagnostic Criteria ◽  
Clinical Event ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Diagnostic Indices ◽  
Radiologically Isolated Syndrome

Background Steps towards the development of diagnostic criteria are needed for children with the radiologically isolated syndrome to identify children at risk of clinical demyelination. Objectives To evaluate the 2005 and 2016 MAGNIMS magnetic resonance imaging criteria for dissemination in space for multiple sclerosis, both alone and with oligoclonal bands in cerebrospinal fluid added, as predictors of a first clinical event consistent with central nervous system demyelination in children with radiologically isolated syndrome. Methods We analysed an international historical cohort of 61 children with radiologically isolated syndrome (≤18 years), defined using the 2010 magnetic resonance imaging dissemination in space criteria (Ped-RIS) who were followed longitudinally (mean 4.2 ± 4.7 years). All index scans also met the 2017 magnetic resonance imaging dissemination in space criteria. Results Diagnostic indices (95% confidence intervals) for the 2005 dissemination in space criteria, with and without oligoclonal bands, were: sensitivity 66.7% (38.4–88.2%) versus 72.7% (49.8–89.3%); specificity 83.3% (58.6–96.4%) versus 53.9% (37.2–69.9%). For the 2016 MAGNIMS dissemination in space criteria diagnostic indices were: sensitivity 76.5% (50.1–93.2%) versus 100% (84.6–100%); specificity 72.7% (49.8–89.3%) versus 25.6% (13.0–42.1%). Conclusions Oligoclonal bands increased the specificity of magnetic resonance imaging criteria in children with Ped-RIS. Clinicians should consider testing cerebrospinal fluid to improve diagnostic certainty. There is rationale to include cerebrospinal fluid analysis for biomarkers including oligoclonal bands in planned prospective studies to develop optimal diagnostic criteria for radiologically isolated syndrome in children.

New-Onset Gait Difficulty With Kappa Free Light Chains in Cerebrospinal Fluid

2021 ◽  
pp. 42-43
Author(s):  
Maria Alice V. Willrich ◽  
Ruba S. Saadeh
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Oligoclonal Bands ◽  
Light Chains ◽  
Resonance Imaging ◽  
Free Light Chains ◽  
Mcdonald Criteria ◽  
T2 Hyperintensity

A 49-year-old woman sought care for a 9-month history of gait difficulty. She was dragging her right foot when walking and could not walk more than 3 blocks because of right leg weakness. Physical examination showed right-sided weakness of hip flexion and foot dorsiflexion and symmetrical hyperreflexia at the knees and ankles. Magnetic resonance imaging of the brain showed multiple foci of T2 hyperintensity throughout the white matter in both cerebral and cerebellar hemispheres, predominantly in a periventricular distribution. Several small enhancing lesions and mild generalized cerebral volume loss were seen. The appearance and distribution were consistent with a demyelinating process such as multiple sclerosis. Magnetic resonance imaging of the cervical and thoracic spine showed multiple small T2 hyperintensities, including 1 enhancing lesion in the cervical spinal cord. Oligoclonal bands were positive, with 11 unique bands in the cerebrospinal fluid. The concentration of cerebrospinal fluid kappa free light chains was increased, at 0.314 mg/dL. The patient was diagnosed with relapsing-remitting multiple sclerosis. A 5-day course of intravenous corticosteroids was started, after which she noted clinical improvement. At her last follow-up 2 years after initial evaluation, the patient has been stable with no new clinical multiple sclerosis episodes and stable magnetic resonance imaging disease burden with no new lesions. The diagnosis of multiple sclerosis incorporates clinical, imaging, and laboratory evidence. The 2017 revised McDonald criteria state that a finding of cerebrospinal fluid -specific oligoclonal bands can replace the criterion for dissemination in time to make a diagnosis of definitive multiple sclerosis. The standard test for oligoclonal bands is performed using isoelectric focusing electrophoresis and takes more than 3 hours to complete. The case patient had 11 unique cerebrospinal fluid bands. The number of bands is not correlated with disease severity or prognosis.

Tear analysis in clinically isolated syndrome as new multiple sclerosis criterion

2009 ◽  
Vol 16 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Gauthier Calais ◽  
Gerard Forzy ◽  
Charlotte Crinquette ◽  
Alexandre Mackowiak ◽  
Jerome de Seze ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Isoelectric Focusing ◽  
Clinically Isolated Syndrome ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Tear Analysis

In clinically isolated syndrome (CIS), the detection of oligoclonal bands (OCBs) in cerebrospinal fluid (CSF) is critical for space dissemination validation when magnetic resonance imaging (MRI) diagnostic criteria are not fulfilled. However, lumbar puncture for CSF collection is considered relatively invasive. Previous studies have demonstrated applicability of OCB detection in tears to the diagnosis of multiple sclerosis (MS). The objective of the present study was to assess concordance between OCB detection in tears and in CSF. We have prospectively included patients with CIS and compared results of CSF and tear OCB detection by isoelectric focusing (IEF). Tears were collected using a Schirmer strip. We included 82 patients. For 69 of them, samples were analysable. OCBs were detected in CSF for 63.8% and in tears for 42% of patients. All patients with tear OCBs had CSF OCBs. We suggest that tear OCB detection may replace CSF OCB detection as a diagnostic tool in patients with CIS. This would circumvent the practice of invasive lumbar punctures currently used in MS diagnosis.

scholarly journals Case Report: Antibodies to the N-Methyl-D-Aspartate Receptor in a Patient With Multiple Sclerosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Ran Zhou ◽  
Fei Jiang ◽  
Haobing Cai ◽  
Qiuming Zeng ◽  
Huan Yang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Literature Review ◽  
Case Reports ◽  
Demyelinating Diseases ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Receptor Antibody ◽  
Aspartate Receptor

The association between multiple sclerosis and anti-N-Methyl-D-Aspartate receptor encephalitis is limited to merely a few case reports, and the exploration of the pathogenic mechanisms underlying the overlap of these two disease entities is very limited. Therefore, case reports and literature review on N-Methyl-D-aspartate receptor antibody in patients with multiple sclerosis are unusual and noteworthy. A young female had the first episode of paresthesia and motor symptoms with positive anti-N-Methyl-D-Aspartate receptor antibody and recovered after immunotherapy, and at the first relapse, the patient developed disorders of consciousness with positive anti-N-Methyl-D-Aspartate receptor antibody, findings of magnetic resonance imaging showed features of autoimmune encephalitis, which was also controlled by immunotherapy. At the second relapse, anti-N-Methyl-D-Aspartate receptor antibody turned negative while oligoclonal bands presented positive, and findings of magnetic resonance imaging showed features of multiple sclerosis. Afterwards, we followed the patient after receiving disease modifying treatment to monitor the efficacy and safety of teriflunomide. Based on literature review, demyelinating diseases patients with anti-neuronal antibody have complex, diverse and atypical symptoms; therefore, high attention and increased alertness are necessary for neurologists. Conclusively, anti-neuronal antibody may present in many neuroinflammatory conditions, and diagnostic criteria should be used with caution if the clinical presentation is atypical, and neurologists should not rely excessively on laboratory tests to diagnose neurological diseases. Timely and comprehensive examination and consideration as well as early standardized treatment are the key factors to reduce patient recurrence and obtain a good prognosis.

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