Background

Acute movement disorders are infrequent manifestations of central nervous system demyelination. Our purpose is to highlight an extremely unusual relapse presentation in an MS patient with highly active disease.

Objectives

Non-applicable......................................................................................

Methods

Non-applicable......................................................................................

Results

We present the case of a 26-year-old female patient, diagnosed with Relapsing-Remitting MS at age 16. She was initially non-compliant with disease-modifying therapies and clinical follow up, experiencing multiple relapses during an eight-year period. She resumed follow-up at our institution in 2018, following two episodes of cervical myelitis without clinical motor involvement. Her neurological examination was noticeable for vertical non-fatigable nystagmus, asymmetric left-predominant hyperreflexia, and truncal ataxia. Re-baseline MRI performed in 2019 revealed multiple T2 lesions involving infratentorial, spinal cord, juxtacortical, and periventricular regions, none of which showed gadolinium enhancement. She was started on dimethyl fumarate 240mg bid in March 2020 with adherence.

The patient consulted our MS outpatient clinic in May 2020, because of a 4-day history of continuous involuntary wavelike movements localized to the right side of her face. The patient’s spouse reported that the movements were unremitting during sleep. A video recording of this manifestation was obtained. Neurological examination at this time revealed continuous right-sided facial myokymia, more prominent around the orbicular and peri-labial muscles, not influenced by voluntary activity. There was no concurrent hemifacial spasm. Brain MRI documented a new hyperintense T2/FLAIR non-enhancing lesion in the pontine tegmentum, adjacent to the traject of the facial nerve and multiple gadolinium-enhancing lesions in the supratentorial compartment. The patient was offered intravenous methylprednisolone treatment but denied. She subsequently experienced full recovery within 3 weeks, with no abnormal facial movements detected at clinical reevaluation one-month later.

Conclusions

We described the case of an MS patient with a highly active disease course, presenting with continuous hemifacial wavelike movements related to a pontine demyelinating lesion. Although infrequent, strictly unilateral facial myokymia is a possible presentation of infratentorial MS relapse.

Background

Multiple sclerosis (MS) patients are routinely submitted to MRI for disease activity assessment. Gadolinium enhancing (Gad+) lesions are a sensitive biomarker of inflammatory disease activity. However, the contrast agents are nephrotoxic and there is evidence of dangerous intracranial deposits, even in patients with normal renal function. Therefore, controversy in the MS community subsists, regarding the use of gadolinium-based contrast agents in the follow up of MS patients.

Objectives

To evaluate the frequency and possible clinical predictors of Gad+ lesions in brain MRI in a real world single-center cohort of relapsing-remitting MS (RRMS) and secondary-progressive MS (SPMS) patients.

Methods

Retrospective, observational study identifying consecutive RRMS and SPMS patients with at least one brain MRI performed at our center with gadolinium contrast – the most recent scan was evaluated. Patients with exclusive cranial nerve enhancement and patients who received methylprednisolone for clinical relapse in the month prior to the MRI were excluded. Clinical and demographic variables were collected from patient’s files. Logistic regression was performed to evaluate potential clinical predictors of gadolinium enhancement using SPSS statistics.

Results

248 patients were reviewed, 226 of which fulfilled inclusion criteria. 170 (75,2%) were female, with a mean age of 45,4 ± 12 years. Disease course include 198 (87,6%) RRMS and 28 (12,4%) SPMS, with a mean disease duration of 12,7±9,3 years, median EDSS of 2(IQR 1,5); 93,4% (n=211) were treated with disease modifying therapy (DMT). 21 (9,3%) patients showed Gad+ lesions in brain MRI, all of which had additional evidence of T2 progression on their noncontrast imaging. This group had a lower mean age when compared with patients without Gad+ lesions (39,6±8,9 vs 46,0±12,2, p=0,021).

The logistic regression model including age, disease duration, EDSS, exposure to DMT and clinical relapse in the year prior to the MRI as predictors, showed that only age significantly predicted risk to Gad+ lesions on brain MRI (OR 0,945, CI 95%, 0,896-0,998, p=0,042), with older age associated with a lower risk of enhancing lesions.

Conclusions

In this cohort, a low proportion of patients showed Gad+ lesions (9,3%). Age was the only predictive factor, with older age associated with a lower risk of enhancing lesions. These findings raise doubts about the potential benefit of routine administration of gadolinium in MS patients, particularly among the older ones.

Background

MS-related damage to the cerebellum and cerebellar pathways may contribute to cognitive disability. Nevertheless, specific investigations regarding the relationship between cerebellar clinical dysfunction, volume loss, and cognitive impairment in relapsing-remitting MS (RRMS) are scarce.

Objectives

We aimed to investigate cognitive profile differences between RRMS patients with and without clinical signs of cerebellar dysfunction and to explore an association between cerebellar volume measures and cognitive performance in this RRMS cohort.

Methods

We designed a cross-sectional study, consecutively selecting RRMS patients followed at Egas Moniz Hospital’s MS Clinic, who had undergone cranial MRI evaluation at our center between July of 2018 and July of 2019, with a minimum follow-up period of 12 months before the scan. Cognitive status was evaluated through Symbol Digit Modalities Test (SDMT) and California Verbal Learning test II (CVLT-II). Whole-brain/cerebellar volumes were calculated using Freesurfer software, following standardized MR acquisition protocol. volBrain software was utilized to obtain cerebellar lobule segmentation and volumetric parameters. Posterior cerebellar volumes (PCV) were calculated as the sum of lobules VI–X. Patients were grouped according to the cerebellar functional system score (0 or >0) and between-group comparisons for demographic, clinical, and volume metrics were conducted. The relationship between cerebral/cerebellar volumes and clinical scores was investigated via hierarchical multiple linear regression analysis.

Results

42 patients (82% female) were included, with a median disease duration of 6 (11) years and median EDSS of 2.0 (1.0). 18 patients (42.9%) showed clinical signs of cerebellar dysfunction (PwsCD), defined by cerebellar Functional System Score of >0. SDMT (p=0.003) and CVLT-II (p=0.007) scores were significantly inferior in the PwsCD subgroup. Worse SDMT scores correlated with lower Crus II volume (r=0.374 ; p=0.015) and lower CVLT-II scores correlated with lower PCV (r=0.375; p=0.014) and Crus I volume (r=0,324; p=0,036). The regression model exploring the relationship between CVLT-II, demographical, and MRI variables (total brain volume and PCV) explained 36.4% of CVLT II variance (p=0.005), with PCV as a single independent predictor (p=0.036).

Conclusions

Correlations found between cognitive scores, posterior cerebellar volume, and specific lobules parallel previous studies describing a functional cerebellar dichotomy, with posterior areas predominantly involved in cognitive tasks. Cerebellar regional atrophy independently predicted cognitive performance in this RRMS cohort.

Background

Acute movement disorders are infrequent manifestations of central nervous system demyelination. Our purpose is to highlight an extremely unusual relapse presentation in an MS patient with highly active disease.

Objectives

Non-applicable......................................................................................

Methods

Non-applicable......................................................................................

Results

We present the case of a 26-year-old female patient, diagnosed with Relapsing-Remitting MS at age 16. She was initially non-compliant with disease-modifying therapies and clinical follow up, experiencing multiple relapses during an eight-year period. She resumed follow-up at our institution in 2018, following two episodes of cervical myelitis without clinical motor involvement. Her neurological examination was noticeable for vertical non-fatigable nystagmus, asymmetric left-predominant hyperreflexia, and truncal ataxia. Re-baseline MRI performed in 2019 revealed multiple T2 lesions involving infratentorial, spinal cord, juxtacortical, and periventricular regions, none of which showed gadolinium enhancement. She was started on dimethyl fumarate 240mg bid in March 2020 with adherence.

The patient consulted our MS outpatient clinic in May 2020, because of a 4-day history of continuous involuntary wavelike movements localized to the right side of her face. The patient’s spouse reported that the movements were unremitting during sleep. A video recording of this manifestation was obtained. Neurological examination at this time revealed continuous right-sided facial myokymia, more prominent around the orbicular and peri-labial muscles, not influenced by voluntary activity. There was no concurrent hemifacial spasm. Brain MRI documented a new hyperintense T2/FLAIR non-enhancing lesion in the pontine tegmentum, adjacent to the traject of the facial nerve and multiple gadolinium-enhancing lesions in the supratentorial compartment. The patient was offered intravenous methylprednisolone treatment but denied. She subsequently experienced full recovery within 3 weeks, with no abnormal facial movements detected at clinical reevaluation one-month later.

Conclusions

We described the case of an MS patient with a highly active disease course, presenting with continuous hemifacial wavelike movements related to a pontine demyelinating lesion. Although infrequent, strictly unilateral facial myokymia is a possible presentation of infratentorial MS relapse.

Background

MS-related damage to the cerebellum and cerebellar pathways may contribute to cognitive disability. Nevertheless, specific investigations regarding the relationship between cerebellar clinical dysfunction, volume loss, and cognitive impairment in relapsing-remitting MS (RRMS) are scarce.

Objectives

We aimed to investigate cognitive profile differences between RRMS patients with and without clinical signs of cerebellar dysfunction and to explore an association between cerebellar volume measures and cognitive performance in this RRMS cohort.

Methods

We designed a cross-sectional study, consecutively selecting RRMS patients followed at Egas Moniz Hospital’s MS Clinic, who had undergone cranial MRI evaluation at our center between July of 2018 and July of 2019, with a minimum follow-up period of 12 months before the scan. Cognitive status was evaluated through Symbol Digit Modalities Test (SDMT) and California Verbal Learning test II (CVLT-II). Whole-brain/cerebellar volumes were calculated using Freesurfer software, following standardized MR acquisition protocol. volBrain software was utilized to obtain cerebellar lobule segmentation and volumetric parameters. Posterior cerebellar volumes (PCV) were calculated as the sum of lobules VI–X. Patients were grouped according to the cerebellar functional system score (0 or >0) and between-group comparisons for demographic, clinical, and volume metrics were conducted. The relationship between cerebral/cerebellar volumes and clinical scores was investigated via hierarchical multiple linear regression analysis.

Results

42 patients (82% female) were included, with a median disease duration of 6 (11) years and median EDSS of 2.0 (1.0). 18 patients (42.9%) showed clinical signs of cerebellar dysfunction (PwsCD), defined by cerebellar Functional System Score of >0. SDMT (p=0.003) and CVLT-II (p=0.007) scores were significantly inferior in the PwsCD subgroup. Worse SDMT scores correlated with lower Crus II volume (r=0.374 ; p=0.015) and lower CVLT-II scores correlated with lower PCV (r=0.375; p=0.014) and Crus I volume (r=0,324; p=0,036). The regression model exploring the relationship between CVLT-II, demographical, and MRI variables (total brain volume and PCV) explained 36.4% of CVLT II variance (p=0.005), with PCV as a single independent predictor (p=0.036).

Conclusions

Correlations found between cognitive scores, posterior cerebellar volume, and specific lobules parallel previous studies describing a functional cerebellar dichotomy, with posterior areas predominantly involved in cognitive tasks. Cerebellar regional atrophy independently predicted cognitive performance in this RRMS cohort.