Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

PURPOSE: In this study, patients with epilepsy with eyelid myoclonia (E-EM) were evaluated according to their EEG findings, seizure outcomes, and their consistency with the final ictal EEG findings. We also investigated the possible prognostic factors. METHODS: Patients with E-EM and at least two years of follow-up in our clinic were included in the study. We analyzed the presence of eyelid myoclonia, absence and myoclonic seizures, and generalized tonic-clonic seizures for the prior two years and then verified with the latest ictal EEG features. Video-EEGs were analyzed according to the background activity, the existence of generalized spike-wave discharge or polyspike-wave complexes, focal spike-wave discharge, photoparoxysmal responses, and fast activity. RESULTS: 21 patients were involved in this study. In six patients, the seizures were undetected on the first EEGs, whereas they were detected on subsequent ones. The seizures were captured on the first EEGs of six patients; however, they disappeared on subsequent ones. Only one patient had seizures detected on every EEG. The consistency of the seizures was variable in eight patients. At the final follow-up, seizures were reported as being under control for more than two years in 12 patients, according to patients and their parents' reports. However, ictal EEG findings were detected in six of these patients. No electroclinical feature was associated with seizure freedom. CONCLUSION: This study provides further evidence that seizure freedom in E-EM patients is overestimated. The patients and their parents may not be aware of the seizures. Therefore, video-EEG monitorization is essential during follow-up.

A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?

Spinocerebellar ataxia type 2 (SCA2) is a dominantly inherited ataxia primarily characterised by progressive cerebellar syndrome, which is developed due to the expansion of the CAG trinucleotide repeat within the first exon of the ATXN2 gene. We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.

Comparison of multiple sclerosis patients with or without rebound activity after fingolimod cessation: Five-year clinical outcomes.

BACKGROUND: Patients with multiple sclerosis (MS) who discontinue fingolimod might present with rebound activity. The reasons for the development of rebound have been identified, but there are limited data on the long-term clinical outcomes of these patients. This study aimed to compare the long-term outcomes of patients with MS with and without rebound activity after fingolimod discontinuation. METHODS: A total of 31 patients who discontinued fingolimod for various reasons with a minimum follow-up of 5 years were included in the study. Of these, 10 were assigned to the rebound group and 21 to the non-rebound group. Clinical and demographic data and 5-year clinical outcomes of both groups were prospectively examined. RESULTS: At fingolimod initiation, there were no significant differences in age, disease duration, and Expanded Disability Status Scale (EDSS) score. The annualized relapse rate (ARR) was significantly higher in the rebound group than in the non-rebound group before the fingolimod treatment (p = 0.005). In the rebound group, EDSS scores 2 months after rebound treatment and at the 5-year follow-up were not significantly different than before fingolimod initiation (p = 0.14 and p = 0.46, respectively). The last recorded EDSS was significantly higher in the non-rebound group than in the rebound group (3.6 ± 2.3 vs. 2.15 ± 1.4, p = 0.045). At the last follow-up, one patient was diagnosed with secondary progressive multiple sclerosis in the rebound group (10%), and 11 patients were in the non-rebound group (52.4%, p = 0.05). CONCLUSION: When rebound activity is well-monitored and treated after fingolimod discontinuation, no overall EDSS change is expected in the long-term follow-up.

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

OBJECTIVE: In this study, our aim was to demonstrate the effect of sleep deprivation, short sleep, and awakening on photoparoxysmal responses (PPR) and eyelid myoclonia (EM) in patients with Epilepsy with Eyelid Myoclonia (E-EM). METHODS: E-EM patients with at least 1 year of follow-up in our clinic were included in the study. Video EEG(v-EEG) analyses were divided into three periods of wakefulness, sleep, and awakening. The PPR and onset of EMs were investigated. RESULTS: 32 patients met the study criteria, of which 56.3% (n = 18) were male. The mean age at disease onset was 7.7 ± 4.1 years. The mean age at EEG recording was 12.4 ± 4.0 years. EM was observed only on awakening in 78.1% of patients (n = 22), of which it was seen only during intermittent photic stimulation (IPS) in 43.7% (n = 14). Eye closure (EC) sensitivity was detected in all patients. The proportion of patients with a PPR was significantly higher on awakening than before sleep (p = 0.01). CONCLUSIONS: This study showed that EM is most prominent and sometimes can only be detected in the awakening period in E-EM. In order to detect E-EM, v-EEG recordings including both pre-sleep and post-sleep wakefulness periods should be recorded, with intermittent photic stimulation performed in both periods.

Longitudinally extensive transverse myelitis preceding primary central nervous system lymphoma: Spinal sentinel neuroinflammation.

Case Description: 65-year-old female diagnosed with longitudinally extensive transverse myelitis. She had excellent response to immunotherapy despite her atypical features, and her spinal lesion was fully recovered in the second month of the treatment.Findings: Nine months after, she was diagnosed with primary cerebral central nervous system lymphoma while there was no recurrence of the spinal cord lesion as her most recent follow-up visit being 2 years after the LETM.Clinical Relevance: Spinal sentinel neuroinflammation preceding primary central nervous system lymphoma might represent a valuable etiology in the differentials of LETM, as illustrated here.

Co-existence of multiple sclerosis and anti-NMDA receptor encephalitis: A case report and review of literature.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious autoimmune disorder characterized by psychiatric symptoms, seizures and movement disorder. Predisposing factors have been reported since the time it was described, and its pathophysiology has been tried to be clarified over the years. Although overlap with other demyelinating diseases had been reported, such an association between Multiple Sclerosis (MS) anti ANTI-NMDAR encephalitis is limited to only a few case reports. In this article, a patient diagnosed with relapsing remitting multiple sclerosis (RRMS) for ten years who then developed NMDA-R encephalitis while on disease modifying treatment will be presented and possible common pathophysiology with previously reported literature will be discussed.