Perioral Reflex Myoclonias: A Controlled Study in Patients with JME and Focal Epilepsies (original) (raw)
Generalised electrographic seizures presenting as perioral myoclonia
Epileptic disorders : international epilepsy journal with videotape, 2014
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 ...
Clinical study of myoclonic epileptic syndromes
International Journal of Advances in Medicine, 2016
Background: Incidence of different myoclonic epileptic syndromes is variable in different regions. Here in as there is very few literature available internationally being inclusive of all myoclonic epilepsies together. Very few studies are available which describe all characteristics in a given study population. The aim of the study was to find incidence of different types of myoclonic epilepsies among patients presenting with myoclonic seizures their characteristics and to study all myoclonic epilepsies and juvenile myoclonic epilepsy in the study population. Methods: In this study conducted in neurological unit at Ruby hall clinic, a total of 188 case of epileptic disorder were enrolled irrespective of age and sex, among 136 were new case of epileptic disorder were classified based on seizure pattern, 23 were new cases of myoclonic epilepsy, these 23 new case of myoclonic epilepsy along with 52 old cases of myoclonic epilepsy attending to neurological unit were clubbed, a total of 75 cases myoclonic epilepsy were studied. All cases of myoclonic epilepsy and juvenile myoclonic epilepsy were studied with respect to age of onset different seizures, relation with family history, response to treatment, EEG findings. Results: Out of 136 cases 23 were new cases of myoclonic epilepsy, these 23 newly diagnosed cases of myoclonic epilepsies along with 52 already diagnosed myoclonic epilepsy are clubbed together, total of 75 cases were further studied. Incidence of myoclonic epilepsy among epileptic patients found to be 16.9%. Incidence of JME among myoclonic epilepsies is 75-80%, in all myoclonic epilepsies and JME association with GTCS, family history, EEG abnormalities were common finding, valproate and leviteracetam are good therapeutic options, carbamazepine aggravated myoclonus. Conclusions: For diagnosis of myoclonic epilepsy proper clinical history stress laid to ask history of myoclonic jerk in case of all seizure disorder, diagnosis basically depends on proper knowledge of myoclonic epileptic syndrome, eliciting history, EEG as an ancillary testing when in doubt always expert opinion is required as misdiagnosis of the myoclonus as partial seizure leads to wrong prescription of carbamazepine which exacerbates the myoclonus.
Perioral myoclonia with absences: An overlooked and misdiagnosed generalized seizure type
Epilepsy & Behavior, 2005
Objective. The goal of this report is to draw attention to perioral myoclonia with absences, a rare and underrecognized generalized seizure type. Methods. We describe a 31-year-old, mildly retarded patient who had absence seizures with prominent perioral movements and rare generalized tonic-clonic convulsions. He had an attack of status epilepticus consisting of asymmetrical perioral myoclonic jerks and was misdiagnosed with epilepsia partialis continua. Results. The perioral myoclonia were associated with brief lapses of consciousness and with a generalized EEG pattern as shown by the synchronous video/EEG investigation with polygraphic recordings. The patient was diagnosed as having the syndrome of perioral myoclonia with absences described by C.P.
Myoclonus and Epilepsy in Childhood
Epilepsia, 1997
The Commission on Pediatric Epilepsy of the International League against Epilepsy (ILAE) sponsored a workshop on Myoclonus and Epilepsy in Childhood on May 20-23, 1996, in Royaumont, France. The workshop participants and members of the Commission agreed on the following terminology and descriptions. TYPES OF MYOCLONUS There are 4 main types of myoclonus, 3 positive and 1 negative. Cortical myoclonus (CM) CM is due to hyperexcitability of the sensorimotor cortex, and each muscle jerk results from a neuronal discharge in the sensorimotor cortex. Thalamocortical myoclonus In thalamocortical myoclonus, a thalamocortical loop is involved. In both instances, CM and thalamocortical myoclonus, conduction velocity from cortex to muscles is fast:-60 m/s. Timing of muscle innervation after a cortical discharge shows a rostrocaudal lag, with muscles innervated by first cranial nerves contracting initially and those innervated by last cranial nerves contracting later. CM combines a brief (20-75 ms) contraction of both agonist and antagonist muscles. Reticular reflex myoclonus (RRM) RRM results from hyperexcitability of the caudal reticular formation. In contrast to those in CM, electromyographic (EMG) events reflect sequential innervation, with the ninth, seventh and then fifth cranial nerves innervated in that order. Muscle jerks, which last 80-330 ms, precede cortical events. RRM may affect a single muscle or both agonist and antagonist muscles, with proximal muscles often affected, usually bilaterally. Negative myoclonus (NM) NM consists of the inhibition of muscular activity and can be demonstrated as lapses interrupting previously
Reflex myoclonic epilepsy in infancy: a critical review
Epileptic disorders : international epilepsy journal with videotape, 2013
Benign myoclonic epilepsy in infancy, classified among the generalised idiopathic epilepsies, is characterised by the occurrence of myoclonic seizures in the first three years of life in otherwise normal infants. Some authors have described cases of myoclonic seizures as a reflex response to sudden unexpected tactile or acoustic stimuli and this clinical entity has been proposed as a separate nosographic syndrome, referred to as "reflex myoclonic epilepsy in infancy" (RMEI). We reviewed all published articles and case reports on RMEI in order to clarify clinical and electroencephalographic findings, with particular attention to outcome and treatment. RMEI appears to be a benign variant of idiopathic myoclonic epilepsy in infancy with specific features that occur in neurologically and developmentally normal children. This rare clinical entity is often under-described and under-diagnosed, and for this reason should be brought to the attention of paediatricians in order to av...
Epilepsy Research, 2014
Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.
Reflex myoclonic epilepsy in infancy: A multicenter clinical study
Epilepsy Research, 2013
Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.
Eyelid myoclonia with absences: an overlooked epileptic syndrome
Neurophysiologie Clinique-clinical Neurophysiology, 2002
To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording.
Benign myoclonic epilepsy: long-term follow-up of 11 new cases
Brain & Development, 1997
The authors report a long-term follow-up of 11 new subjects with benign myoclonic epilepsy. There were some unusual clinical features such as the need for dual therapy in 45.5% of subjects, and the presence of non-epileptic myoclonus in 54.5%, neither of which influenced the prognosis. Neuropsychological and behavioral evolution was less favorable in 45.5% of patients (mental retardation, school learning