Perioral Myoclonia Research Articles

Status epilepticus in patients with genetic generalized epilepsy: a case series study

BackgroundGenetic generalized epilepsy (GGE) accounts for nearly one-third of all epilepsies. The feature of status epilepticus (SE) in patients with GGE has been rarely studied. We aimed to determine the electroclinical characteristics of SE in patients with GGE.MethodsIn this retrospective study, nine patients with GGE were enrolled at Xijing Hospital, Xi’an, China from May 2014 to May 2020. SE was confirmed by 24-h video-EEG recording. The demography, clinical manifestation, brain MRI and SE pattern were analyzed.ResultsOf the nine patients in the study, seven were female. The mean age of the patients at the time of inclusion was 16.8 years (range 7–31 years), and the mean age at the onset of epilepsy was 10.9 years (range 6–17 years). The follow-up time ranged from 3 months to 6 years. Myoclonic absence status was identified in four patients showing eyelid myoclonia with absence and one patient showing perioral myoclonia with absences. Myoclonic SE was identified in three patients showing juvenile myoclonic epilepsy. Autonomic SE was found in one patient with eyelid myoclonia with absence. SE was terminated by oral midazolam in four patients. In the other five patients, SE terminated spontaneously.ConclusionsThe seizure type of SE in patients with GGE is often consistent with their major symptoms. Oral midazolam may be an option to terminate SE in patients with GGE.

Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance.

ObjectiveTo investigate the electroclinical characteristics and the prognostic impact of generalized fast discharges in a large cohort of genetic generalized epilepsy (GGE) patients studied with 24-h prolonged ambulatory electroencephalography (paEEG).MethodsThis retrospective multicenter cohort study included 202 GGE patients. The occurrence of generalized paroxysmal fast activity (GPFA) and generalized polyspike train (GPT) was reviewed. GGE patients were classified as having idiopathic generalized epilepsy (IGE) or another GGE syndrome (namely perioral myoclonia with absences, eyelid myoclonia with absences, epilepsy with myoclonic absences, generalized epilepsy with febrile seizures plus, or GGE without a specific epilepsy syndrome) according to recent classification proposals.ResultsGPFA/GPT was found in overall 25 (12.4%) patients, though it was significantly less frequent in IGE compared with other GGE syndromes (9.3 vs. 25%, p = 0.007). GPFA/GPT was found independently of seizure type experienced during history, the presence of mild intellectual disability/borderline intellectual functioning, or EEG features. At multivariable analysis, GPFA/GPT was significantly associated with drug resistance (p = 0.04) and with a higher number of antiseizure medications (ASMs) at the time of paEEG (p < 0.001) and at the last medical observation (p < 0.001). Similarly, GPFA/GPT, frequent/abundant generalized spike-wave discharges during sleep, and a higher number of seizure types during history were the only factors independently associated with a lower chance of achieving 2-year seizure remission at the last medical observation. Additionally, a greater number of GPFA/GPT discharges significantly discriminated between patients who achieved 2-year seizure remission at the last medical observation and those who did not (area under the curve = 0.77, 95% confidence interval 0.57–0.97, p = 0.02)ConclusionWe found that generalized fast discharges were more common than expected in GGE patients when considering the entire GGE spectrum. In addition, our study highlighted that GPFA/GPT could be found along the entire GGE continuum, though their occurrence was more common in less benign GGE syndromes. Finally, we confirmed that GPFA/GPT was associated with difficult-to-treat GGE, as evidenced by the multivariable analysis and the higher ASM load during history.

Unmasking the entity of 'drug-resistant' perioral myoclonia with absences: the twitches, darts and domes!

Perioral myoclonia with absences (POMA) is not recognized as a unique electro-clinical syndrome and studies suggest its inclusion under the genetic generalized epilepsy (GGE) spectrum. The aim of this study was to explore the prevalence and electro-clinical homogeneity of this disorder in an epilepsy monitoring unit. Between 2013 and 2019, among drug-resistant epilepsy patients who were referred for video-telemetry, those diagnosed with POMA based on the presence of documented absences with prominently observed peri-oral muscular contractions accompanied by generalized EEG features were included. Among 62 patients who were diagnosed with absence epilepsy, five finally met the criteria for POMA (8.1%) with late childhood or adolescent onset of epilepsy. Four (80%) had a referral diagnosis of focal epilepsy based on historical focal features with exacerbation of seizures on oxcarbazepine. All five patients demonstrated brief absences with orbicularis oris muscle contractions accompanied by subtle focal phenomenology. One patient had concurrent axial-appendicular myoclonic jerks precipitated by hyperventilation. While four patients had strikingly identical interictal and ictal characteristics of typical absence epilepsy, one patient demonstrated additional atypical generalized polyspike discharges without a "dart-dome" morphology. Therapeutic response to introduction of sodium valproate was noted in all five patients. Features that were not consistent with the diagnosis were apparent in one patient who was re-classified with combined focal and generalized epilepsy. Differentiating aspects in this patient included multifocal discharges, background slowing, fast-recruiting ictal rhythms and valproate resistance. This is one of the largest case series of POMA. This entity, which falls under the spectrum of GGE, remains under-diagnosed and its distinctive electro-clinical features need to be recorded in order to prevent misclassification as focal epilepsy of probable opercular origin. Background-slowing, atypical ictal rhythms and valproate unresponsiveness are not consistent with the diagnosis of this unique absence epilepsy. [Published with video sequences].

Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit.

ObjectiveSome patients with genetic generalized epilepsy (GGE) may present with ambiguous and atypical findings and even focal brain abnormalities. Correct diagnosis may therefore be difficult.MethodsWe retrospectively collected six patients investigated on the epilepsy monitoring unit with MRI abnormalities mimicking focal cortical dysplasia (FCD‐like) or heterotopias, but with semiology and EEG features of GGE. We compared them to four additional patients with GGE and nonmigratory abnormalities.ResultsAll six patients presented with frontal MRI lesions: radial (“transmantle,” n = 4), cortical‐subcortical (n = 1), and periventricular heterotopia (n = 1). Five had positive family histories. Semiologic lateralizing signs compatible with the lesion were seen in four. Five patients had 3/s spike‐wave complexes, with an asymmetric appearance in three. Regional EEG changes matched with the side of the abnormality in three patients. Invasive EEG (n = 2) or postoperative outcomes (n = 3) argued against an ictogenic role of the MRI abnormalities. Histology showed mild malformation of cortical development, but no focal cortical dysplasia. The six patients were finally diagnosed with juvenile myoclonic epilepsy (n = 2), juvenile absence epilepsy (n = 2), or GGE not further specified (nfs, n = 2). Compared to these patients, the other four (final diagnoses: childhood absence epilepsy, n = 1; perioral myoclonia with absences, n = 1; and GGE nfs, n = 2) had no lateralizing EEG findings.SignificancePatients with GGE may have coincidental MRI abnormalities. These cases are challenging as frontal epilepsy and GGE can present with similar semiologies. GGE with coincidental FCD‐like lesions/heterotopias is in particular difficult to diagnose as patients have more lateralizing features (in semiology and EEG) than those with tumors. A detailed noninvasive presurgical evaluation may be justified. We point out red flags that may help to distinguish GGE from frontal epilepsy, even in the presence of brain abnormalities: 3/s spike waves (even if asymmetric), changing lateralizing signs at different times, and a positive family history hinting at GGE.

Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation

Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene. Material and methods . Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. The whole exome sequencing was performed (Next Generation Sequencing with the Illumina HiSeq 1500 platform, USA). Dynamic video-EEG monitoring was conducted with a “Encephalan-Video” RM-19/26 instrument (“Medicom MTD”, Russia). Results . According to the patient history, on the 22nd day of life, the child developed vocalisms with tonic tension of the limbs. At her 2 months of life, focal myoclonia and myoclono-clonies were noted; at her 4 months – return of tonic seizures with vocalisms followed by eyelid myoclonus, perioral myoclonus, ophthalmoclonia, alternating hemiconvulsions and tonic-clonic seizures. The family history of epilepsy was negative; the parents denied any consanguinity, but admitted a chance of being distant relatives. Neurological examination revealed hypotonic-astatic syndrome and psycho-motor retardation. A video EEG monitoring test detected multiple EEG negative multifocal myoclonic episodes in combination with dystonic hyperkinesia and motor automatism. Although typical epileptiform spike-wave discharges were rare, a focus of low-index spike-wave complexes was identified in the left temporal zone. Therapy with valproates, barbiturates and levetiracetam did not produce any significant effect but benzodiazepines (clonazepam) caused a moderate improvement; a switch to clobazam therapy was then recommended. This case of inherited developmental and epileptic encephalopathy was defined as early infantile epileptic encephalopathy type 16 (OMIM#615338) with autosomal recessive inheritance associated with a previously not described homozygous mutation of the TBC1D24 gene, chr:16:2546775 A&gt;C that caused Tyr209Ser amino acid substitution. Pre-conception testing of the TBC1D24 gene under the IVF condition is recommended to the parents. Discussion . Since 2010, a few variants of early infantile epileptic encephalopathy type 16 caused by homozygous mutation of the TBC1D24 gene have been described in the literature. This clinical case is closer to progressive myoclonic epilepsy with dystonia (PMED), which indicates the nosological autonomy of this form of epilepsy. С onclusion . Children with pharmacoresistant epilepsy and epileptic encephalopathies, as well as those with unusual course of these diseases need genetic assessment with the new generation exom sequencing techniques – such as the “hereditary epilepsy” panel, as well as clinical and full-exom sequencing. All authors contributed equally to this publication.

Facio-Oculo-Palatal Myoclonus Complicated by a Recurrent Brainstem Stroke

<strong>Background:</strong> A 54-year-old Thai male who has suffered from multiple episodes of ischemic and hemorrhagic strokes developed facio-oculo-palatal myoclonus (FOPM) 1 month after the latest episode of the brainstem stroke. <strong>Phenomenology Shown:</strong> The patient presented with semirhythmic, involuntary, horizontal jerky, and rotatory ocular oscillation concomitant with asymmetrical palatal and perioral myoclonus consistent with FOPM. <strong>Educational value:</strong> FOPM is a useful clinical clue for diagnosing brainstem lesions, specifically in the Guillain–Mollaret triangle. The commonest etiology is cerebrovascular diseases.

Peri-oral myoclonia with absences with multiple facial and upper body myoclonia: Overlap epilepsy syndrome

A 17-years old girl presented with an 8-year history of absences with peri-oral twitching, eyelid twitching and head nodding, with poor response to anti-epileptic drugs. Video EEG revealed ictal and inter-ictal generalized spike wave discharges, and absences with peri-oral (predominant), eyelid, neck and shoulder myoclonia. There was also prominent eye closure sensitivity. Conundrums regarding epilepsy syndrome classification and pathophysiology are discussed.

A case of perioral myoclonia with absences and its evolution in adulthood?

The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA. Firstly, consciousness was preserved during seizures, with no manifestation of absences. Secondly, regarding the EEG features, in some of the seizures, the perioral motor symptoms were tonic rather than myoclonic. The defining features of POMA are discussed in relation to this case.

口周肌阵挛伴失神临床分析

口周肌阵挛伴失神临床分析

The efficacy of lamotrigine for atypical absence status epilepticus in a case of perioral myoclonia with absence

The efficacy of lamotrigine for atypical absence status epilepticus in a case of perioral myoclonia with absence

Electroclinical syndromes of idiopathic generalized epilepsies in adults

Idiopathic generalized epilepsies (IGE) accounting for 20–40% of all epilepsies. International League against Epilepsy (ILAE) Classification recognizes three main IGE subsyndromes that are manifested in adults: juvenile absence epilepsy (JAE); juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures only (EGTCSO). JAE is mainly manifested with typical absence seizures (TAS), 80% of patients suffer from GTCS, and 20% have myoclonic jerks (MJ). JME is the most common IGE subsyndrome, characterized by MJ on awakening, GTCS in nearly all patients, and TAS in a third of them. EGTCSO with GTCS occurring predominantly on awakening is probably life-long disease with a high incidence of relapse on withdrawal of treatment. Some types of IGE have not yet been recognized by the ILAE: (1) Jeavons syndrome – a purely reflex IGE predominantly manifested with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, (2) perioral myclonia with absences, (3) IGE with phantom absences – a type of mild absences before the first GTCS, that usually occurs in adulthood. Both perioral myoclonia with absences and phantom absences are clinically significant because they are probably life-long and are associated with a very high incidence of absence status epilepticus that may escape diagnosis and appropriate treatment.

Generalised electrographic seizures presenting as perioral myoclonia

A 41-year-old man, during a neurological consultation, reported "chin twitching" over a period of a week, which was diagnosed as intermittent perioral myoclonia. With only one tonic-clonic seizure seven years before, he had mentioned several episodes of chin twitching over the years. In the clinic, there were intermittent chin movements without apparent confusion, as he was able to provide a complete history and was fully oriented with intact memory. His video-EEG showed paroxysms of polyspike and slow-wave activity, with the longest burst-free interval being 20 seconds. Discharges were maximal over the fronto-central regions, correlating with the chin myoclonus. He was able to tap his hand continuously, and remained alert. The case represents an atypical presentation of idiopathic generalised epilepsy without manifestation of absence or limb myoclonus. Although juvenile myoclonic epilepsy and other idiopathic epilepsies are rarely associated with perioral myoclonia, this sign was the principal clinical feature for this patient. Oral treatment with levetiracetam resolved his seizures.

Teaching Video Neuro Images : Perioral myoclonia with absences in a 12-year-old boy

Teaching Video Neuro <i>Images</i> : Perioral myoclonia with absences in a 12-year-old boy

Teaching Video Neuro Images : Perioral myoclonia with absences in a 12-year-old boy

A previously normal 12-year-old boy presented with 2 episodes of generalized tonic-clonic seizures in the past month. The parents also noticed brief episodes of twitching of the mouth for the last 2 years, which increased in frequency after treatment with oxcarbamazepine. Examination and neuroimaging were normal. The seizure semiology (see the video on the Neurology ® Web site at [www.neurology.org][1]) and EEG (figure) were suggestive of perioral myoclonia with absences. Brief episodes of absences (2–9 seconds) with perioral myoclonia, infrequent generalized tonic-clonic seizures, and frequent occurrence of absence status epilepticus should suggest the diagnosis.1 The interictal EEG may reveal focal abnormalities that may lead to a misdiagnosis of a focal epilepsy. The seizures may be treatment-resistant and oxcarbamazepine must be avoided.2 [1]: http://www.neurology.org/

Excessive Blinking and Ataxia in a Child With Occult Neuroblastoma and Voltage-Gated Potassium Channel Antibodies

A previously healthy 9-year-old girl presented with a 10-day history of slowly progressive unsteadiness, slurred speech, and behavior change. On examination there was cerebellar ataxia and dysarthria, excessive blinking, subtle perioral myoclonus, and labile mood. The finding of oligoclonal bands in the cerebrospinal fluid prompted paraneoplastic serological evaluation and search for an occult neural crest tumor. Antineuronal nuclear autoantibody type 1 (anti-Hu) and voltage-gated potassium channel complex antibodies were detected in serum. Metaiodobenzylguanidine scan and computed tomography scan of the abdomen showed a localized abdominal mass in the region of the porta hepatis. A diagnosis of occult neuroblastoma was made. Resection of the stage 1 neuroblastoma and treatment with pulsed corticosteroids resulted in resolution of all symptoms and signs. Excessive blinking has rarely been described with neuroblastoma, and, when it is not an isolated finding, it may be a useful clue to this paraneoplastic syndrome. Although voltage-gated potassium channel complex autoimmunity has not been described previously in the setting of neuroblastoma, it is associated with a spectrum of paraneoplastic neurologic manifestations in adults, including peripheral nerve hyperexcitability disorders.

Perioral myoclonia with absences and myoclonic status aggravated by oxcarbazepine

Perioral myoclonia with absences belongs to the "idiopathic generalised epilepsy syndromes in development", currently not yet cited in the ILAE classification. This epilepsy syndrome is associated with a seizure type that appears to be specific. Here, we report polygraphic recordings of this seizure type in a young boy, previously misdiagnosed with focal epilepsy. EEG and clinical features were useful to differentiate diagnosis of his seizures from other absence or myoclonic seizures. Interestingly, some seizures were associated with neck myoclonia. Home video recording of myoclonic status aggravated by inappropriate treatment is also presented. [Published with video sequences].

Ictal video-polygraphic features of perioral myoclonia with absences

There have been few case reports of perioral myoclonia with absences (POMA) because of the lack of video-polygraphic recordings clarifying the electroencephalogram (EEG)–electromyogram (EMG) correlations. We describe one of the first video-polygraphic studies of POMA in a patient who underwent repeated and prolonged split-screen video-polygraphic recordings. The ictal EEG showed generalized and irregular discharges of spikes or multiple spikes and slow waves, while two concomitant EMG patterns appeared: (1) a rhythmic enhancement of the orbicularis oris and masseter muscles on both sides with minimal asymmetry corresponding to perioral movements, and (2) a progressive increment in muscular tone in the mylohyoideus muscle corresponding to oroalimentary automatisms. Myoclonic jerks were inconstantly time-locked to the spike component of the spike–wave complex. The evidence of a complex pattern of activation of the facial muscles suggests that the involvement of subcortical central pattern generators, related to masticatory activity, through the disinhibitory effect of the spike–wave discharge is a possible pathophysiological mechanism underlying POMA.

Neck Myoclonia With Absence Seizures: Report of 3 Cases

Absence seizures associated with myoclonic phenomena can be seen in typical absences, myoclonic absences, eyelid myoclonia, and perioral myoclonia, all of which have diagnostic electroclinical features. The authors report 3 patients who encountered prominently rhythmic neck myoclonias with and without absences (loss of awareness). The descriptive symptoms of attacks by witnesses were head shaking or turning repeatedly instead of absences. The seizures were induced by hyperventilation in all 3 cases. Two cases had a history of previous febrile seizures. In all patients, video-electroencephalography showed a one-to-one correspondence relationship between the 2.5- to 3.5-Hz generalized spike and wave discharges and the rhythmic myoclonic jerks of the neck, which was further confirmed by sternocleidomastoideus electromyography recording in 1 patient. Seizures had been controlled by 1 or 2 antiepileptic drugs. Neck myoclonia with absences might be classified either as 1 special subtype of typical absence or as an independent seizure type. Paying close attention to the special phenomenon will help to clarify the clinical spectrum of this seizure.

Introduction

Introduction

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences

The classification of idiopathic generalized epilepsies (IGEs) is still controversial, with special reference to absence epilepsy syndromes. Strict, well-defined criteria for syndromic definitions are necessary to delineate homogeneous conditions; however, this approach may leave a considerable group of patients unclassified, leading to the effort to categorize them in possible distinct subsyndromes. In this report, we review some of these possible IGE subsyndromes, such as IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences, briefly commenting on the issues regarding their recognition as individual entities.