scholarly journals Palatal Tremor Revisited: Disorder with Nosological Diversity and Etiological Heterogeneity

Author(s):  
Madhu Nagappa ◽  
Parayil S. Bindu ◽  
Sanjib Sinha ◽  
Rose D. Bharath ◽  
Mangalore Sandhya ◽  
...  

AbstractThis case series aimed to describe clinicoradiological, electromyographic, and etiological spectra in palatal tremor (essential=1; symptomatic=26). Patients with symptomatic palatal tremor had 2 to 10 Hz arrhythmic electromyographic bursts, a spectrum of changes in inferior olivary nucleus, with/without lesions in Guillain Mollaret triangle, and varied etiologies (genetic=9, vascular=6, trauma=3, infections=3). Exome sequencing showed variations in POLG, WDR81, NDUFS8, TENM4, and EEF2. Clinical phenotypes of patients with POLG, WDR81, and NDUFS8 variations were consistent with that described in literature. We highlight salient magnetic resonance imaging features, electrophysiological observations, and diverse etiologies in a large cohort of palatal tremor.

2019 ◽  
Vol 70 (4) ◽  
pp. 403-407 ◽  
Author(s):  
Davina Mak ◽  
Alessandro Vidoni ◽  
Steven James ◽  
Munchi Choksey ◽  
David Beale ◽  
...  

Spinal synovial cysts are relatively uncommon and are most frequently found in the lumbar spine and rarely in the cervical spine. Intraspinal extradural cervical synovial cysts can occur and potentially cause cord/nerve root compression with symptoms of myelopathy/radiculopathy; however, most are asymptomatic and incidental findings. We conducted a literature review and present, to our knowledge, the largest imaging case series and describe the magnetic resonance imaging features of cervical synovial cysts.


2017 ◽  
Vol 31 (1) ◽  
pp. 69-82 ◽  
Author(s):  
Cellina Michaela ◽  
Fetoni Vincenza ◽  
Ciocca Matteo ◽  
Pirovano Marta ◽  
Oliva Giancarlo

Myelin oligodendrocyte glycoprotein is a protein exclusively expressed on the surface of oligodendrocytes and myelin in the central nervous system. Antibodies against myelin oligodendrocyte glycoprotein were initially detected in children with demyelinating syndromes, and more recently reported in a broad spectrum of central nervous system demyelinating diseases in adults, including neuromyelitis optica spectrum disorders and bilateral optic neuritis. Patients with myelin oligodendrocyte glycoprotein antibody-associated demyelination appear to have unique clinical and radiological features. To the best of our knowledge a series of Italian patients with optic neuritis and positivity to myelin oligodendrocyte glycoprotein antibodies has not yet been reported and the paper on myelin oligodendrocyte glycoprotein antibodies are more focused on clinical features, diagnosis and outcome than on the radiological appearance, so we want to retrospectively report magnetic resonance imaging features of a group of eight patients, who came to our Ophthalmologic Emergency Department for optic neuritis and were found seropositive for myelin oligodendrocyte glycoprotein antibodies, comparing our data with the findings described in the literature.


2019 ◽  
Vol 82 (4-6) ◽  
pp. 86-92
Author(s):  
Wen Xu ◽  
Yan Zhou ◽  
Yan Jiang ◽  
Li Zhang ◽  
Qiqiang Tang

Background: To study clinical and magnetic resonance imaging (MRI) features of reversible splenial lesion syndrome (RESLES) in adult patients. Methods: A retrospective analysis was performed using clinical, cerebrospinal fluid (CSF), laboratory results, and neuroimaging data obtained from 6 adult RESLES patients. Results: All 6 patients (3 male cases, 3 female cases) were determined to be acute or subacute onset, most of them associated with infection or fever. All initial MRI data exhibited splenium of corpus callosum lesions with hypointensity on T1WI, hyperintensity on T2WI, diffusion-weighted imaging (DWI) and Flair, without significant gadolinium enhancement. Five patients were treated with glucocorticoids and showed significant improvement in 1–15 days, with the lesion having disappeared or weakened, and one case was lost of follow-up. The cell number and protein amount in CSF were determined to be at normal levels, or slightly increased in 3 patients with thyroid dysfunction. Conclusion: The etiology of adult RESLES was observed to be complex and diverse, primarily related to infection, fever, and thyroid dysfunction. DWI was found to be more sensitive in these lesions, and CSF cytology was observed to be either normal or mildly abnormal. A majority of patients were found to be sensitive to glucocorticoid, and have a good prognosis with lesions that disappeared rapidly.


2021 ◽  
Vol 69 ◽  
pp. 261-265 ◽  
Author(s):  
Pooya Torkian ◽  
Hamid Rajebi ◽  
Taraneh Zamani ◽  
Naghi Ramezani ◽  
Pejman Kiani ◽  
...  

2012 ◽  
Vol 12 (5) ◽  
pp. 331-339 ◽  
Author(s):  
Melania Costantini ◽  
Paolo Belli ◽  
Daniela Distefano ◽  
Enida Bufi ◽  
Marialuisa Di Matteo ◽  
...  

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Harry Knights ◽  
Elizabeth Minas ◽  
Faraan Khan ◽  
Lindsay Shaw ◽  
Muthana Al Obaidi ◽  
...  

Abstract Background The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities. Methods This was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher’s exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities. Results Fourteen patients were studied: 6 males and 8 females; median age 14 years (range 3–20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05). Conclusions In summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.


Sign in / Sign up

Export Citation Format

Share Document