Posterior semicircular canal cupulolithiasis during acute pontomedullary demyelination.

Positional vertigo poses a diagnostic challenge in people with multiple sclerosis (MS). The characteristics of positional nystagmus and its response to repositioning manoeuvres are usually sufficient to diagnose benign paroxysmal positional vertigo (BPPV). However, certain BPPV variants respond poorly to repositioning manoeuvres and their nystagmus pattern can resemble that of central positional vertigo caused by infratentorial demyelination. This diagnostic difficulty is particularly challenging if positional vertigo occurs during an MS relapse. We describe a woman with MS who developed a sixth nerve palsy and gaze-evoked nystagmus, caused by demyelination near or within areas classically involved in central positional vertigo. However, she also had positional vertigo from coincident BPPV (and not central positional vertigo). This was initially a treatment resistant-posterior semicircular canal cupulolithiasis but it later progressed to a posterior semicircular canal canalolithiasis, with symptoms promptly resolving after a repositioning manoeuvre.

Single-phase CT angiography predicts ASPECTS decay and may help determine when to repeat CT before thrombectomy.

OBJETIVES: Time is relative in large-vessel occlusion acute ischemic stroke (LVO-AIS). We aimed to evaluate the rate of inter-hospital ASPECTS decay in patients transferred from a primary (PSC) to a comprehensive stroke center (CSC); and to identify patients that should repeat computed tomography (CT) before thrombectomy. MATERIALS AND METHODS: This was a retrospective cohort study of consecutive anterior circulation LVO-AIS transferred patients. The rate of ASPECTS decay was defined as (PSC-ASPECTS - CSC-ASPECTS)/hours elapsed between scans. Single-phase CT angiography (CTA) at the PSC was used to classify the collateral score. We compared patients with futile versus useful CT scan re-evaluation. RESULTS: We included 663 patients, of whom 245 (37.0%) repeated CT at a CSC. The median rate of ASPECTS decay was 0.4/h (0.0-0.9). Patients excluded from thrombectomy after a CT scan repeat (n=64) had a median ASPECTS decay rate of 1.18/h (0.83-1.61). Patients with absent collateral circulation had a median rate of 1.51(0.65-2.19). The collateral score was an independent predictor of the ASPECTS decay rate (aß = -0.35; 95%CI -0.45 - -0.19, p<0.001). Age (aOR: 1.04 95% CI 1.02-1.07, p<0.001), NIHSS (aOR: 1.11 95% CI 1.06-1.15, p<0.001), PSC ASPECTS (aOR: 0.74 95% CI 0.60-0.91, p=0.006) and the CTA collateral score (aOR: 0.14 95% CI 0.08-0.22, p<0.001) were independent predictors of the usefulness of a CT scan repeat. CONCLUSIONS: The rate of ASPECTS decay can be predicted by the CTA collateral score, helping in the selection of patients that would benefit from repeating a CT assessment on arrival at the CSC.

Sporadic Creutzfeldt-Jakob disease presenting as epilepsia partialis continua and non-ictal nystagmus.

BACKGROUND AND PURPOSE: Creutzfeldt-Jakob disease (CJD) is a rare form of rapidly progressive neurodegenerative disorder. Seizures are uncommon in the early stage of CJD, increasing diagnostic difficulty. METHODS: An autopsy-proven case of CJD presenting initially as an epilepsia partialis continua is reported, in which the initial workup was unremarkable. Retrospectively, the presence of nystagmus, which proved to be non-epileptic, pointed to a cerebellar lesion before a diagnosis of clinically probable CJD was made. RESULTS: A 70-year-old man presented with a 3-week history of intermittent rhythmic jerking tremors in his left limbs, interfering with his gait. Examination showed left body clonic movements. Electroencephalography revealed an ictal right centroparietal pattern of focal status epilepticus. Video-oculography revealed right-beating nystagmus (mean slow phase velocity [SPV] 3.4º/s) in the dark and left-beating nystagmus (SPV 2.6º/s) in the light, left-beating nystagmus after head shaking (SPV 4º/s) and during mastoid vibration (SPV 11º/s) and mildly hypoactive horizontal head impulses. Search for occult malignancy, serologies, cerebrospinal fluid analyses, anti-onconeural antigen, auto-immune panel and brain magnetic resonance imaging were unrevealing. Rapid neurological decline was observed. Three weeks later, cerebrospinal fluid was positive for 14.3.3 protein, electroencephalography showed generalized periodic sharp wave complexes and brain magnetic resonance imaging revealed diffusion restriction and T2/fluid-attenuated inversion recovery hyperintensities in the cerebellum, basal ganglia, thalamus and cortex. He died 1 month later. Neuropathological study confirmed the diagnosis of CJD. CONCLUSION: This case highlights that CJD should be considered in the differential diagnosis of new onset epilepsia partialis continua and that neuro-ophthalmological examination can be helpful in pointing to early asymmetric cerebellar involvement.

Labyrinthine haemorrhage secondary to cerebral venous thrombosis.

Cerebral venous thrombosis (CVT) can rarely present with acute ipsilateral cochlear and/or vestibular loss, to date always in the absence of a clear local otogenic process evidenced by magnetic resonance imaging (MRI). This association has been putatively attributed to inner ear anoxia due to blockage of inner ear venous drainage. We present a nonreported case of thrombosis of the left transverse and sigmoid sinuses presenting with acute unilateral vestibulopathy in which MRI disclosed concurrent ipsilateral labyrinthine haemorrhage. A 69-year-old female presented with acute vertigo without hearing loss or other accompanying neurological symptoms. Bedside examination revealed spontaneous right-beating nystagmus and an impaired left head impulse response, with an otherwise normal neurological examination. Audiometry and head and ear computed tomography were unremarkable, whereas MRI showed a nonenhancing hyperintensity of the left inner ear consistent with labyrinthine haemorrhage, and additional venography disclosed thrombosis of the left transverse and sigmoid sinuses. Oral anticoagulation was started, and the patient experienced gradual improvement of symptoms. The current case provides support for the existence of inner ear anoxia in CVT cases presenting with acute ipsilateral vestibular loss, which can ultimately be complicated by secondary bleeding, as seen in our patient. Importantly, presentation in our case closely mimicked that of peripheral vestibular neuritis, and only MRI venography enabled us to make a prompt diagnosis. This raises an important question as to when a diagnosis of vestibular neuritis can be made securely in the absence of MRI assessment with or without venography to completely discard labyrinthine haemorrhage with or without CVT.

The Use of Video-Head Impulse Test in Different Head Positions in Vertical Nystagmus and Ataxia Associated with Probable Thiamine Deficiency.

Upward and downward bias of eye movement signals in the semicircular canals (SCC)- and/or otolith-related central pathways have been proposed to explain the occurrence of vertical nystagmus (downbeat nystagmus [DBN] and upbeat nystagmus [UBN]) and its frequent modulation with head position. Video-head impulse test (VHIT), usually performed in upright position, is a recent development for measuring SCC function. We performed longitudinal nystagmus and VHIT assessments in different head positions in a patient with probable thiamine deficiency, in order to explore a possible relationship between the positional behavior of vertical nystagmus and SCC function. Initially, UBN in upright position changed to DBN in prone position and remained relatively unchanged in supine position. This was associated with both anterior and posterior SCC hyperactive responses in upright position, and a relative enhancement of the anterior SCC responses in prone position and the posterior SCC responses in supine position. Over 1 year, in prone position, change from UBN to DBN and the enhancement of anterior SCC responses remained, while in supine position, UBN either decreased or changed to DBN, when compared to upright position. This was associated with a relative enhancement of the anterior SCC responses in supine position, albeit inconsistently, and the presence of posterior SCC hypoactive responses in all positions, including prone. While not contradicting a primary otolithic dysfunction in the genesis of UBN change to DBN with head position, we provide evidence for positional modulation of SCC function in thiamine deficiency and a possible relationship with nystagmus positional behavior.

Blood Pressure Variability in Acute Ischemic Stroke: The Role of Early Recanalization.

We performed a retrospective study with the aim of investigating the association between blood pressure (BP) variability in the first 24 h after ischemic stroke and functional outcome, regarding arterial recanalization status. A total of 674 patients diagnosed with acute stroke and treated with revascularization therapies were enrolled. Systolic and diastolic BP values of the first 24 h after stroke were collected and their variation quantified through standard deviation. Recanalization state was evaluated at 6 h and clinical outcome at 3 months was assessed by modified Rankin Scale. In multivariate analyses systolic BP variability in the first 24 h post-stroke showed an association with 3 months clinical outcome in the whole population and non-recanalyzed patients. In recanalyzed patients, BP variability did not show a significant association with functional outcome.

Ocular neuromyotonia.

Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy. Sustained downward gaze consistently triggered downward left eye tonic deviation, lasting around 1 min. MR scan of the brain was normal. She improved on starting carbamazepine but developed a rash that necessitated stopping the drug. Switching to lacosamide controlled her symptoms.

Recanalization Modulates Association Between Blood Pressure and Functional Outcome in Acute Ischemic Stroke.

BACKGROUND AND PURPOSE: Historical stroke cohorts reported a U- or J-shaped relationship between blood pressure (BP) and clinical outcome. However, these studies predated current revascularization strategies, disregarding the recanalization state of the affected arterial territory. We aimed to investigate the relationship between BP in the first 24 hours after ischemic stroke and clinical outcome in patients submitted to intravenous or intra-arterial recanalization treatments. METHODS: Consecutive patients with acute stroke treated with intravenous thrombolysis or intra-arterial therapies were enrolled in a retrospective cohort study. BP was measured on regular intervals throughout day and night during the first 24 hours after stroke onset. The mean systolic BP and diastolic BP during the first 24 hours post stroke were calculated. Recanalization was assessed at 6 hours by transcranial color-coded Doppler, angiography, or angio-computed tomography. Functional outcome was assessed at 3 months by modified Rankin Scale. Linear and quadratic multivariate regression models were performed to determine associations between BP and functional outcome for the whole population and recanalyzed and nonrecanalyzed patients. RESULTS: We included 674 patients; mean age was 73.28 (SD, 11.50) years. Arterial recanalization was documented in 355 (52.70%) patients. In multivariate analyses, systolic BP and diastolic BP in the first 24 hours post stroke show a J-shaped relationship with functional outcome in the total population and in the nonrecanalyzed patients. Recanalyzed patients show a linear association with functional outcome (systolic BP: odds ratio, 1.015; 95% confidence interval, 1.007-1.024; P=0.001; R(2) change=0.001; P=0.412 and diastolic BP: odds ratio, 1.019; 95% confidence interval, 1.004-1.033; P=0.012; R(2) change<0.001; P=0.635). CONCLUSIONS: Systemic BP in the first 24 hours after ischemic stroke influences 3-month clinical outcome. This association is dependent on the revascularization status.

Acute management of cerebral venous thrombosis: Indications, technique, and outcome of endovascular treatment in two high-volume centers.

INTRODUCTION: After several uncontrolled studies and one randomized clinical trial, there is still uncertainty regarding the role of endovascular treatment (EVT) in cerebral venous thrombosis (CVT). This study aims to describe and assess different acute management strategies in the treatment of CVT. METHODS: We performed a retrospective analysis of an international two-center registry of CVT patients admitted since 2019. Good outcome was defined as a return to baseline modified Rankin scale at three months. We described and compared EVT versus no-EVT patients. RESULTS: We included 61 patients. Only one did not receive systemic anticoagulation. EVT was performed in 13/61 (20%) of the cases, with a median time from diagnosis to puncture of 4.5 h (1.25-28.5). EVT patients had a higher median baseline NIHSS [6 (IQR 2-17) vs 0 (0-2.7), p = 0.002)] and a higher incidence of intracerebral hemorrhage (53.8% vs 20.3%, p = 0.03). Recanalization was achieved in 10/13 (77%) patients. Thrombectomy was performed in every case with angioplasty in 7 out of 12 patients and stenting in 3 cases. No postprocedural complication was reported. An improvement of the median NIHSS from baseline to discharge [6 (2-17) vs 1(0-3.75); p < 0.001] was observed in EVT group. A total of 31/60 patients (50.8%) had good outcomes. Adjusting to NIHSS and ICH, EVT had a non-significant increase in the odds of a good outcome [aOR 1.42 (95%CI 0.73-2.8, p = 0.307)]. CONCLUSIONS: EVT in combination with anticoagulation was safe in acute treatment of CVT as suggested by NIHSS improvement. Selected patients may benefit from this treatment.

A 6-month trial of memantine for nystagmus and associated phenomena in oculopalatal tremor.

Introduction: Oculopalatal tremor (OPT) is a late manifestation of a Guillain-Mollaret triangle lesion. Memantine has been shown to improve nystagmus in OPT, but its long-term efficacy and putative distinct effects on each plane of nystagmus and on associated phenomena (e.g., gravity perception) are largely unknown. Methods: We conducted a 6-month open-label study to evaluate the effect of memantine in OPT patients. Baseline (visit 1), 2 (visit 2), and 6 months (visit 3) assessments included video-oculography, best corrected visual acuity (BCVA), visual function questionnaire (VFQ25), palatal tremor frequency, and subjective visual vertical (SVV). Memantine was titrated to 20 mg per day and stopped after 6 months. Results: We included six patients (5 females; mean age 68.5+/-9.7). At visit 2, nystagmus improved >50% only along the horizontal plane in two patients, while worsening >50% along the vertical and horizontal planes in 4 and 1 patients, respectively. At visit 3, previous improvement of nystagmus along the horizontal plane in two patients was not sustained, and it further worsened >50% along the vertical plane in 4. The mean vertical velocity and amplitude of nystagmus in the left eye significantly worsened from visit 2 to visit 3 (p = 0.028). Throughout the study, nystagmus frequency remained unchanged (p = 0.074), BCVA improved in both eyes (p = 0.047, p = 0.017), SVV progression was unpredictable (p = 0.513), and the mean VFQ-25 score (p = 0.223) and mean palatal frequency remained unchanged. Conclusion: The long-term use of memantine 20 mg per day in OPT produced a modest and only transient improvement in nystagmus, predominantly along the horizontal plane. Visual acuity improved, albeit without relevant changes in vision-related quality of life.

Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland.

Inflammatory myopathies comprise a group of rare autoimmune muscle diseases characterized by a variable degree of muscle weakness, elevated creatine kinase levels and necrotic fibres associated with invading inflammatory cells at histologic examination. Although there are several reports about their relationship with malignancy, association with papillary cancer of the thyroid gland is extremely rare. We present a case of a female patientdiagnosed withinflammatory myopathy and apapillary cancer of the thyroid gland, with a remarkable clinical improvement after thyroid cancer surgery and radioactive iodine treatment, supporting a correlation between the two conditions.

Positional Testing in Acute Vestibular Syndrome: a Transversal and Longitudinal Study.

OBJECTIVE: To evaluate the utility of positional testing in peripheral and central acute vestibular syndrome (pAVS, cAVS, respectively). STUDY DESIGN: Prospective; observational. SETTING: Tertiary referral center. PATIENTS: Consecutive AVS patients. INTERVENTIONS: Video-oculography in upright, supine and head hanging positions at presentation, 3-month and 1-year follow-up. MAIN OUTCOME MEASURES: Positional modulation of spontaneous nystagmus; co-occurrence of central paroxysmal positional nystagmus (CPPN). RESULTS: Fifteen pAVS [mean age (SD), 53.3 (16.6) (11 males)] and 15 cAVS [mean age (SD), 56.5 (17.8) (11 males)] patients were included (p=0.49). Acutely, in supine, in patients whose nystagmus was present in both head rotation sides, 12 of 13 (93%) pAVS and only 4 of 12 (33%) cAVS patients showed direction-fixed positional nystagmus which was stronger when turning the head to the slow phase side. The remaining cAVS patients showed either direction-fixed positional nystagmus which was stronger when turning the head to the fast phase side (5), or direction-changing positional geotropic nystagmus (2). One patient in each group showed direction-changing positional apogeotropic nystagmus. During follow-up, direction-changing positional apogeotropic and geotropic nystagmus became common in both groups. Acutely, in head hanging, 5 (33%) cAVS patients showed vertical CPPN and 2 showed positional saccadic intrusions. Positional downbeat nystagmus and saccadic intrusions became chronic. CONCLUSIONS: The presence of acute direction-changing positional geotropic nystagmus, stronger direction-fixed positional nystagmus when turning the head to the fast phase side, and acute or chronic head hanging vertical CPPN should raise the suspicion for central AVS. Chronic geotropic and apogeotropic nystagmus following AVS constitute an underrecognized manifestation of vestibular compensation.

Collateral pial circulation relates to the degree of brain edema on CT 24 hours after ischemic stroke.

Background Cerebral edema is frequent in patients with acute ischemic stroke (AIS) who undergo reperfusion therapy and is associated with high mortality. The impact of collateral pial circulation (CPC) status on the development of edema has not yet been determined. Methods We studied consecutive patients with AIS and documented M1-middle cerebral artery (MCA) and/or distal internal carotid artery (ICA) occlusion who underwent reperfusion treatment. Edema was graded on the 24-hour non-contrast computed tomography (NCCT) scan. CPC was evaluated at the acute phase (≤6 hours) by transcranial color-coded Doppler, angiography and/or CT angiography. We performed an ordinal regression model for the effect of CPC on cerebral edema, adjusting for age, baseline National Institutes of Health Stroke Scale, Alberta Stroke Program Early Computed Tomography Score (ASPECTS) on admission, NCCT, parenchymal hemorrhagic transformation at 24 hours and complete recanalization at six hours. Results Among the 108 patients included, 49.1% were male and mean age was 74.2 ± 11.6 years. Multivariable analysis showed a significant association between cerebral edema and CPC status (OR 0.22, 95% CI 0.08-0.59, p = 0.003), initial ASPECTS (OR 0.72, 95% CI 0.57-0.92, p = 0.007) and parenchymal hemorrhagic transformation (OR 23.67, 95% CI 4.56-122.8, p < 0.001). Conclusions Poor CPC is independently associated with greater cerebral edema 24 hours after AIS in patients who undergo reperfusion treatment.

Bethlem myopathy in a Portuguese patient - case report.

Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait. Serum creatine kinase (CK) values were slightly elevated, electromyographic study revealed myopathic changes and muscle MRI of the lower limbs showed a specific pattern of muscle involvement, with peripheral fat infiltration in vastus lateralis and intermedius and anterocentral infiltration in rectus femoris. Respiratory and cardiac functions were unremarkable. Whole exome sequencing identified the homozygous mutation c.1970-9G>A in COL6A2 gene.

Pregnancy in Multiple Sclerosis: A Portuguese cohort study.

BACKGROUND: Pregnancy in Multiple Sclerosis (MS) has been a controversial issue, without international standardized treatment recommendations. The goal of our study was to evaluate the clinical course of MS during pregnancy and the respective therapeutic options, obstetrical outcomes and breastfeeding data. METHODS: This was a retrospective study including women with a diagnosis of relapsing-remitting MS at least one year before pregnancy. Three periods were evaluated: one year prior to pregnancy, pregnancy and one year postpartum. Information acquired included demographic and disease activity data, treatment options, and obstetrical and breastfeeding data. RESULTS: From a cohort of 1134 patients and 777 women, we included 127 pregnancies in 97 women (111 deliveries of a live infant, 11 spontaneous abortions, 3 fetal deaths and 2 voluntary abortions). The annualized relapse rate (ARR) decreased during pregnancy, mainly in the third trimester (prior to pregnancy 0.6 ± 0.8 vs. during pregnancy 0.3 ± 0.6, p = 0.006). There were no significant changes in the ARR in the year after delivery compared to baseline (0.6 ± 0.8 vs. 0.6 ± 0.8, p = 0.895). Patients with relapses in the postpartum period had a shorter disease duration at conception (5.4 ± 3.9 vs. 7.4 ± 4.7; p = 0.029) and breastfed less (53.5% vs. 72.1%, p = 0.046). In the multivariate analysis, relapses during pregnancy predicted postpartum relapses (OR = 4.9, p < 0.005). Neither the previous use of disease modifying therapy (DMT), given to 80.2% of women, nor breastfeeding, caesarean delivery (CD) or epidural analgesia (EA) had an impact on the presence of postpartum relapses. Compared to baseline, the Expanded Disability Status Scale (EDSS) increased in pregnancy and the postpartum period (1.6 ± 0.7 vs. 1.7 ± 0.9 vs. 2.1 ± 1.0, p < 0.001). CD was performed in 43.3% of patients, mainly because of fetal-pelvic incompatibility (35.7%) and EA was performed in 63.9%. The most frequent complications were restriction of fetal growth (4.5%) and gestational diabetes mellitus (3.6%). Concerning newborns, 6.4% had birth asphyxia and 6.1% low birth weight. No malformations were registered. CONCLUSION: Despite a reduction in the relapse rate during pregnancy, the presence of relapses during pregnancy predicted postpartum relapses, with impact on disability. DMT appeared to have no influence on clinical or obstetrical outcome. MS did not have a deleterious effect on the pregnancy course. CD and EA were safe procedures, with a tendency towards CD in MS patients, compared to Portuguese women in general. Breastfeeding did not influence MS activity.