Hereditary Melkersson-Rosenthal syndrome and multiple sclerosis

2005 ◽  
Vol 11 (3) ◽  
pp. 364-366 ◽  
Author(s):  
J A Cabrera-Gómez ◽  
N Echazabal-Santana ◽  
Y Real-González ◽  
K Romero García ◽  
Manuel Junior Sobrinho ◽  
...  

The revision of MEDLINE from 1966 to 2003 did not report any association between multiple sclerosis (MS) and Melkersson—Rosenthal syndrome (MRS). This is a case report of a 51-year-old woman, with history of four recurrent Bell’s palsies. In 1999 she developed a right facial paralysis due to a supranuclear pyramidal lesion with right monoparesis. The family history showed five relatives with recurrent Bell’s paralysis and plicata tongue. Physical examination: right Bell’s paralysis, left supranuclear facial paralysis, furrowed tongue, right hemiparesis with pallor of the optic disks. Brain magnetic resonance imaging (MRI) demonstrated the typical lesions of MS and CSF oligoclonal bands. This is the first observation of a patient with hereditary MRS and MS. The link between both diseases is discussed.

2018 ◽  
Vol 25 (1) ◽  
pp. 122-125 ◽  
Author(s):  
Marianthi Breza ◽  
Nikoletta Smyrni ◽  
Georgios Koutsis ◽  
Evangelos Anagnostou ◽  
John Tzartos ◽  
...  

A 13-year-old girl presented with a 5-day history of oscillopsia. On examination, ocular flutter and mild cerebellar signs were found. Brain magnetic resonance imaging (MRI) revealed four periventricular and subcortical non-enhancing lesions. Cerebrospinal fluid (CSF) oligoclonal bands were negative. Neuroblastoma or other malignancies were not found. She responded well to a corticosteroid–intravenous immunoglobulin (IVIG) combination and remained symptom-free for 3 years until presenting again with isolated ocular flutter. Brain MRI at this time remained atypical for classic multiple sclerosis (MS) with a predominance of juxtacortical demyelinating lesions. CSF was positive for oligoclonal bands. Serum myelin oligodendrocyte glycoprotein (MOG) antibodies were present. Ocular flutter can be the presenting feature of MOG antibody–associated pediatric demyelination.


2021 ◽  
pp. 20-21
Author(s):  
Samantha A. Banks ◽  
Eoin P. Flanagan

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.


2018 ◽  
Vol 25 (14) ◽  
pp. 1915-1925 ◽  
Author(s):  
Colm Elliott ◽  
Jerry S Wolinsky ◽  
Stephen L Hauser ◽  
Ludwig Kappos ◽  
Frederik Barkhof ◽  
...  

Background: Chronic lesion activity driven by smoldering inflammation is a pathological hallmark of progressive forms of multiple sclerosis (MS). Objective: To develop a method for automatic detection of slowly expanding/evolving lesions (SELs) on conventional brain magnetic resonance imaging (MRI) and characterize such SELs in primary progressive MS (PPMS) and relapsing MS (RMS) populations. Methods: We defined SELs as contiguous regions of existing T2 lesions showing local expansion assessed by the Jacobian determinant of the deformation between reference and follow-up scans. SEL candidates were assigned a heuristic score based on concentricity and constancy of change in T2- and T1-weighted MRIs. SELs were examined in 1334 RMS patients and 555 PPMS patients. Results: Compared with RMS patients, PPMS patients had higher numbers of SELs ( p = 0.002) and higher T2 volumes of SELs ( p < 0.001). SELs were devoid of gadolinium enhancement. Compared with areas of T2 lesions not classified as SEL, SELs had significantly lower T1 intensity at baseline and larger decrease in T1 intensity over time. Conclusion: We suggest that SELs reflect chronic tissue loss in the absence of ongoing acute inflammation. SELs may represent a conventional brain MRI correlate of chronic active MS lesions and a candidate biomarker for smoldering inflammation in MS.


2009 ◽  
Vol 16 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Gauthier Calais ◽  
Gerard Forzy ◽  
Charlotte Crinquette ◽  
Alexandre Mackowiak ◽  
Jerome de Seze ◽  
...  

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.


2003 ◽  
Vol 9 (1) ◽  
pp. 39-43 ◽  
Author(s):  
J Sastre-Garriga ◽  
M Tintoré ◽  
A Rovira ◽  
E Grivé ◽  
I Pericot ◽  
...  

B ackground and aim: C onversion to multiple sclerosis (MS) after optic neuritis and myelitis has been thoroughly studied; however, limited data are available regarding conversion to MS after a clinically isolated syndrome of the brainstem (CISB). The aim of this study was to investigate conversion to MS in patients with C ISB. Methods: Fifty-one patients with C ISB were prospectively studied. C ranial magnetic resonance imaging (MRI), determination of oligoclonal bands (OBs) in the cerebrospinal fluid (C SF) and evoked potentials (EPs) were performed. Based on conversion to MS at follow-up, the sensitivity, specificity, accuracy and positive and negative predictive values of these tests were calculated. Results: C linically definite MS developed in 18 (35%) patients after a mean follow-up of 37 months. Paty’s MRI criteria showed a sensitivity of 89%, a specificity of 52% and an accuracy of 65%; Fazekas’ criteria showed a sensitivity of 89%, a specificity of 48% and an accuracy of 63%; Barkhof’s criteria showed a sensitivity of 78%, a specificity of 61% and an accuracy of 67%. The presence of O Bs in the C SF showed a sensitivity of 100%, a specificity of 42% and an accuracy of 63%. No differences for neurophysiological parameters were found between patients who did and those who did not convert to MS. C onclusion: Fulfilling Paty’s, Fazekas’ or Barkhof’s MRI criteria and the presence of O Bs in the C SF are associated with a higher risk of conversion to MS in patients with C ISB. Determinatio n of O Bs in the C SF has the greatest sensitivity of all tests. Barkhof’s MRI criteria have greater specificity (although less than previously published for mixed cohorts of clinically isolated syndromes) in predicting conversion to MS for C ISB than either Paty’s or Fazekas’ criteria.


2019 ◽  
Vol 1 ◽  
pp. 2-6
Author(s):  
Asad Naqvi ◽  
Timothy Ariyanayagam ◽  
Mir Akber Ali ◽  
Akhila Rachakonda ◽  
Hema N. Choudur

Objective: The objective of this study was to outline a novel unique concept of secondary impingement of the muscles, myotendons, and tendons of the rotator cuff from hypertrophy as a result of strength training exercises. Methods: In this retrospective observational study, 58 patients were referred for an magnetic resonance imaging (MRI) by the orthopedic surgeon to the radiology department over a period of 1½ years. All patients gave a history of strength training exercises and presented with clinical features of rotator cuff impingement. Results: We identified features of hypertrophy of rotator cuff muscles, myotendons, and tendons in 12 of these 58 patients. This was the only abnormality on MRI. The hypertrophy of rotator cuff muscles and tendon bulk completely filling the subacromial space to the point of overfilling and resulting in secondary compressive features. Conclusion: Rotator cuff impingement is a common phenomenon that can occur with various inlet and outlet pathological conditions. However, rotator cuff impingement may also result from muscle and tendon hypertrophy from strength training regimens. Hypertrophy of the rotator cuff can result in overfilling of the subacromial space, leading to secondary impingement, which we have termed as “pseudo-impingement.”


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