[Epileptic syndromes associated with focal clonic seizures]. / Epilepticheskie sindromy, assotsiirovannye s fokal'nymi klonicheskimi pristupami.

OBJECTIVE: To study clinical, electroencephalographic and neuroimaging features in children with epileptic syndromes associated with focal clonic seizures (FCS). MATERIAL AND METHODS: We examined 1258 patients with various forms of epilepsy with the onset of seizures from the first day of life to 18 years. RESULTS: FCS was identified in 263 patients (20.9%). FCS were included in the structure of 13 different epileptic syndromes: Rolandic epilepsy (28.1%), structural focal epilepsy (27.5%), structural focal epilepsy associated with benign epileptiform discharges of childhood (SFE-BEDC) (20.6%), focal epilepsy of unknown etiology (7.5%), epilepsia partialis continua (4.6%), pseudo-Lennox syndrome (3.4%), ESES syndrome (2.7%), Landau-Kleffner syndrome (1.5%), Dravet syndrome (1.1%), benign occipital epilepsy (1.1%), benign focal epilepsy in infancy (0.8%), MISF syndrome (0.8%), cognitive epileptiform disintegration (0.8%). In 50% of cases, epilepsy associated with FCS debuts before the age of 5 years (from 1 month to 18 years, average age 4.26±3.9). CONCLUSION: The groups of syndromes associated with FCS have different prognosis for remission of seizures. Prognostic predictors of seizure remission are: epileptic syndromes associated with BEDC, the presence of periventricular leukomalacia. A severe prognosis for the course of epilepsy is associated with local structural changes in the neocortex. Despite a favorable prognosis for seizures, continued diffuse interictal epileptiform activity with BEDC on the electroencephalogram is a predictor of the onset of cognitive impairment in children.

Comparing late-onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post-encephalitis/encephalopathy and non-encephalitis/encephalopathy.

OBJECTIVE: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late-onset epileptic spasms (LOES) by comparing post-encephalitis/encephalopathy (PE) and non-encephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential focal onset epileptic spasms (ES) in the NE group but not in the PE group. METHODS: We retrospectively included 23 patients (12 with PE and 11 with NE) who initially underwent CC and subsequent disconnection surgeries (five NE). We compared the clinical courses, seizure types, MRI, video-EEG, epilepsy surgery, and seizure outcomes between the two groups. RESULTS: The median age of LOES onset in the PE group was 2.8 (range 1.0-10.1 years) and 2.9 years (range 1.1-12.6) in the NE group. Bilateral MRI abnormalities were observed in both groups (PE, n = 12; NE, n = 3; P < 0.05). The PE group presented ES alone (n = 2), ES + focal seizures (FS) (n = 3), ES + generalized seizures (GS) (n = 3), and ES + FS + GS (n = 4) in addition to stimulus-induced startle seizures (SS) (n = 8) (mean 3.1 seizure types/patient). The NE group presented ES alone (n = 1), ES + FS (n = 2), and ES + FS + GS (n = 8) (mean 2.7 seizure types/patient). In the PE group, CC stopped ES (n = 1) and SS (n = 1) and achieved <50% SS (n = 3). In the NE group, CC achieved immediate ES-free status (n = 2) and < 50% ES (n = 1), and additional disconnection surgeries subsided all seizure types (n = 3) based on lateralized interictal/ictal EEG findings. LOES was significantly remitted by surgery in the NE group (6/11 [55%]) compared with the PE group (1/12 [8%]) (P < 0.05). SIGNIFICANCE: LOES is a drug-resistant, focal/generalized/unknown onset ES. Lateralization of ES in NE could be achieved after CC and eliminated by further disconnection surgeries because of potential focal onset ES. LOES in PE had little benefit from CC for generalized onset ES. However, CC might reduce SS in patients in the PE group with multiple seizure types.

Movement disorders phenomenology in focal motor seizures.

INTRODUCTION: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain. METHODS: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists. RESULTS: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1). CONCLUSIONS: Movement disorders and focal motor epilepsy share overlapping movement phenomenology.

Potentially high-risk cardiac arrhythmias with focal to bilateral tonic-clonic seizures and generalized tonic-clonic seizures are associated with the duration of periictal hypoxemia.

OBJECTIVE: To investigate potentially high-risk cardiac arrhythmias (PHAs) following focal to bilateral tonic-clonic seizures (FBTCSs) and generalized tonic-clonic seizures (GTCSs) and to study the association of PHAs with seizure characteristics and the severity of associated ictal respiratory dysfunction. METHODS: Electrocardiographic (EKG) and pulse oximetry (SpO2 ) data were recorded concurrently with video-electroencephalographic telemetry in the epilepsy monitoring unit (EMU). One minute of preictal EKG, the ictal EKG, and 2 min of ictal/postictal data were reviewed for each seizure. Nonsustained ventricular tachycardia, bradyarrhythmia, and/or sinus pauses were considered as PHAs. FBTCSs/GTCSs with PHAs were compared to those that had only ictal sinus tachycardia. RESULTS: Data from 69 patients with 182 FBTCSs/GTCSs with usable SpO2 and EKG recordings were available. There were 10 FBTCSs/GTCSs in 10 patients with a PHA. The presence of PHAs was not associated with seizure duration or SpO2 nadir. FBTCSs/GTCSs with a PHA were significantly associated with the duration of oxygen desaturation < 90% when compared with FBTCSs/GTCSs with only sinus tachycardia (Mann-Whitney, p = 0.042). Desaturation duration of <100 s was not significantly associated with occurrence of PHAs (p = 0.110) when compared with seizures that had only sinus tachycardia. The odds ratio for occurrence of PHA was 7.86 for desaturation durations ≥ 125 s versus desaturations < 125 s (p = 0.005). The odds ratio increased to 13.09 for desaturation durations ≥ 150 s (p < 0.001). Preictal and ictal/postictal arrhythmias occurred with focal seizures that did not progress to FBTCSs. Four patients with focal seizures had ictal/postictal PHAs without preictal PHAs. Two of these patients had evidence for prior cardiac disturbance. SIGNIFICANCE: PHAs following a single FBTCS/GTCS in the EMU are significantly associated with the duration of ictal/postictal hypoxemia. It is possible that FBTCS/GTCS-associated hypoxemia may trigger fatal cardiac arrhythmias in a subset of susceptible patients dying of sudden unexpected death in epilepsy.

Vagoglossopharyngeal Neuralgia Occurred Concomitantly with Ipsilateral Hemifacial Spasm and Versive Seizure-Like Movement: A First Case Report.

Vagoglossopharyngeal neuralgia (VGPN) is a very rare condition. VGPN with convulsive like attack is even rarer All of the cases had their head turned to the opposite side of facial pain. Hemifacial spasm occurring concurrently with VGPN has never been reported. Herein, we present the first case of VGPN that had ipsilateral hemifacial spasm and versive seizure-like movement to the same side of facial pain. We reported a 71-year-old man presenting with multiple episodes of intermittent sharp shooting pain arising on the right middle neck, followed by hemifacial spasm on right face. Then the patient became syncope while his head and gaze turned to the same side of the painful neck. Electrocardiography showed sinus arrest. Interictal Electroencephalography was normal. This patient initially responded to pregabalin for two weeks, then the symptoms became worse. Microvascular decompression and carbamazepine resulted in the complete remission of all symptoms after six months of follow-up. We could not explain the pathophysiology of unilateral versive seizure like movement.

Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature.

Urbach-Wiethe disease (UWD) is an autosomal recessive disease characterized by both neurological and dermatological manifestations. Face specially eyelids are commonly involved. Alopecia, nail dystrophy and dental anomalies have been reported as less frequent symptoms. Some patients show evidences of epilepsy and psychiatric symptoms such as schizophrenia, mood disorders, and anxiety due to calcium deposits in different parts of the brain. In this report, we describe the case of a young woman affected by UWD presenting with neurological involvements and no dermatological manifestations. This patient is a unique case of UWD as she has partial seizures and hoarseness. Also we summarize relevant data from the literature.

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.

A challenging review of childhood incontinence: rare complications of dysfunctional elimination syndrome in an epileptic boy.

A multidisciplinary approach is mandatory in defining the cause and directing the treatment of childhood urinary incontinence. Both pediatricians and pediatric urologists should carefully evaluate a child with incontinence for possible overlapping etiologies, before labeling him or her as a refractory case. We report an epileptic boy with dysfunctional elimination syndrome (DES) with associated rare complications of giggle incontinence and idiopathic urethritis, proving the need for a good voiding diary, patient history and structured symptom scores.

A new case of idiopathic hemiplegia hemiconvulsion syndrome.

We report a new case of infantile idiopathic hemiconvulsion-hemiplegia syndrome (HH). A prolonged right-sided febrile convulsion was followed 4 days later, by right hemiconvulsive status epilepticus, documented by video-electroencephalogram (EEG) recording. The child developed an ipsilateral hemiplegia, partially improved during the first month of follow-up. Sequential cerebral magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) at 6, 15, 30 days of follow-up showed a cytotoxic edema in the left hemisphere and a subsequent necrosis. At 1-year of follow-up, we performed MRI control because of febrile convulsion lasting few minutes that confirmed a non-progressive left hemisphere atrophy. After 2 years, the patient was seizure-free, with a mild right hemiplegia and language skills deficit. We discuss the unclear pathogenesis of HH through sequential neuroradiological evaluation.

Epileptic negative drop attacks in atypical benign partial epilepsy: a neurophysiological study.

PURPOSE: We conducted a computer-assisted polygraphic analysis of drop attacks in a child with atypical benign partial epilepsy (ABPE) to investigate neurophysiological characteristics. SUBJECT AND METHODS: The patient was a six-year two-month-old girl, who had started to have focal motor seizures, later combined with daily epileptic negative myoclonus (ENM) and drop attacks, causing multiple injuries. We studied episodes of ENM and drop attacks using video-polygraphic and computer-assisted back-averaging analysis. RESULTS: A total of 12 ENM episodes, seven involving the left arm (ENMlt) and five involving both arms (ENMbil), and five drop attacks were captured for analysis. All episodes were time-locked to spike-and-wave complexes (SWC) arising from both centro-temporo-parietal (CTP) areas. The latency between the onset of SWC and ENMlt, ENMbil, and drop attacks reached 68 ms, 42 ms, and 8 ms, respectively. The height of the spike as well as the slow-wave component of SWC for drop attacks were significantly larger than that for both ENMlt and ENMbil (p < 0.05). CONCLUSION: Drop attacks were considered to be epileptic negative myoclonus involving not only upper proximal but also axial muscles, causing the body to fall. Thus, drop attacks in ABPE are considered to be epileptic negative drop attacks arising from bilateral CTP foci and differ from drop attacks of a generalized origin seen in Lennox-Gastaut syndrome and myoclonic-astatic epilepsy.

Complex partial status epilepticus in children with epilepsy.

PURPOSE: Complex partial status epilepticus (CPSE) is often under-diagnosed, especially in children. The aim of this study was to clarify the characteristics and pathophysiology of CPSE in children with epilepsy. SUBJECTS AND METHODS: We retrospectively reviewed the medical records and EEGs of 17 children with epilepsy who were diagnosed as having CPSE by ictal or postictal EEGs to investigate clinical and EEG features. RESULTS: The ages at diagnosis of CPSE ranged from 3 months to 17 years. At the time of diagnosis of CPSE, 13 patients had symptomatic localization-related epilepsy, two had epilepsy with continuous spike-waves during slow wave sleep, and each patient had cryptogenic localization-related epilepsy and idiopathic localization-related epilepsy. Only subtle symptoms including autonomic ones associated with disturbance of consciousness were the main clinical features in 12 of 44 CPSE episodes. Another 22 episodes showed minor focal motor elements, and the other 10 had major convulsive phase during or immediately before CPSE. Ictal EEGs of CPSE were divided into three types according to the degree of high-voltage slow waves (HVS) and spike components. Ictal EEGs could show spike-dominant or spike and HVS mixed patterns even if patients showed only subtle symptoms. The epileptogenic areas estimated by the ictal or postictal EEGs showed variability with only two cases of temporal origin. CONCLUSION: The close observation of clinical symptoms such as various subtle symptoms and/or mild convulsive elements and ictal EEGs are absolutely needed for the diagnosis of CPSE in children.

Repetitive transcranial magnetic stimulation decreases the number of seizures in patients with focal neocortical epilepsy.

PURPOSE: To evaluate the number of seizures and interictal epileptiform discharges (IEDs) in patients with focal neocortical epilepsy before, during and after rTMS. METHODS: Twelve patients (seven men and five women, mean age 29.3+/-15.8 years) were studied. An open-label study with baseline (4 weeks), intervention (2 weeks) and follow-up (8 weeks) periods was carried out. Repetitive transcranial magnetic stimulation (rTMS) with 900 pulses, intensity of 120% motor resting threshold and 0.5Hz frequency was used. A 120 channel EEG was recorded; an electrical source analysis of IEDs with Variable Resolution Electromagnetic Tomography (VARETA) was performed. The number of seizures per week and IEDs per minute were measured and compared in the three periods. RESULTS: During the basal period the mean seizure frequency was 2.25 per week; in the intervention period it decreased to 0.66 per week (F=2.825; p=0.0036) which corresponds to a 71% reduction. In the follow-up period the mean frequency was 1.14 seizures per week, that is, a 50% reduction in the number of seizures. In the visual EEG analysis, the baseline IED frequency was 11.9+/-8.3events/min; it decreased to 9.3+/-7.9 during 2 weeks of rTMS with a further reduction to 8.2+/-6.6 in the follow-up period. These differences however were not significant (p=0.190). CONCLUSION: We conclude that 2 weeks of rTMS at 0.5Hz with a figure-of-eight coil placed over the epileptic focus, determined with VARETA, decreases the number of seizures in patients with focal epilepsy, without reduction in IEDs.

Prolonged deficits after focal inhibitory seizures.

INTRODUCTION: Seizures are most commonly associated with positive phenomena such as tonic, clonic or myoclonic movements, automatisms, paresthesias and hallucinations. Negative phenomena, however, are not an uncommon manifestation of seizure activity. Examples of negative seizure phenomena include speech arrest, aphasia, amaurosis, amnesia, numbness, deafness, neglect and atonic seizures. Less commonly described in the literature are focal inhibitory motor seizures. METHODS AND RESULTS: Two patients presenting with rapidly progressive, prolonged hemiparesis, sensory neglect and hemi-visual field obscuration are described. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain did not reveal progression of known structural lesions or new lesions. The superficial cortex of the hemisphere contralateral to the hemiparesis and sensory neglect enhanced diffusely with gadolinium on T1-weighted MRI images. Electroencephalography demonstrated periodic lateralized epileptiform discharges (PLEDs) in one patient and lateralized suppression and slowing in the other patient. Single photon emission computed tomography (SPECT) revealed hyperperfusion in the hemisphere contralateral to the hemiparesis and sensory neglect. The changes seen on MRI and SPECT resolved with resolution of the symptoms. CONCLUSION: Taken together with the clinical history, the results from these investigations suggest focal inhibitory seizure as the underlying etiology. A review of the literature and investigations helpful in making this difficult diagnosis are provided.

Asistolia ictal en el diagnóstico diferencial del mareo / Ictal asystolia in the differential diagnosis of dizziness

Las crisis epilépticas se acompañan a menudo de cambios en el ritmo cardíaco. Habitualmente son pasajeras y no relevantes para la sintomatología del paciente, recuperando en segundos o pocos minutos el ritmo basal habitual. En este trabajo presentamos un caso clínico en que una paciente con una epilepsia previamente conocida sufría además episodios de sensación de mareo e inestabilidad, a modo de presíncope. El estudio de vídeo-electroencefalográfico sirvió para registrar uno de estos episodios, demostrándose una crisis epiléptica focal asociada a asistolia: la crisis era puramente electroencefalográfica, subclínica, y la sintomatología típica apareció durante la asistolia que seguía después de 40 s a los cambios electroencefalográficos. La recuperación fue rápida, pero para el manejo futuro la indicación de un marcapasos debe ser valorada

Frequently, epileptic seizures are accompanied by changes in the heart rate. They are ussually transient and irrelevant for the patient’s symptoms and the patient recorders his usually baseline rhythm in second or a few minutes. In this report we present a case of a patient diagnosed previously of epilepsy who presented episodes of dizziness and presyncope. During the video-EEG study we recorded one of these spells. The diagnosis of this spell was a focal seizure associated with asystole: the seizure was almost asymptomatic, and only when the asystole developed (40 seconds after the EEG ictal changes) the patient complained about dizziness. Recovery was fast, but treatment with pacemaker must be considered

Intermittent falls and fecal incontinence as a manifestation of epileptic negative myoclonus in idiopathic partial epilepsy of childhood.

We report two children, suffering from idiopathic partial epilepsy, who started to present, in the same period of time, with epileptic negative myoclonus (ENM) in one lower limb and fecal incontinence (FI). Polygraphic recordings showed that ENM was associated with paroxysmal activities distributed over the vertex region. Both ENM and FI disappeared when ethosuximide treatment was started. We hypothesize that, in our patients, ENM in one lower limb and FI depended on a transitory impairment, caused by epileptic activity that altered the functionality of nearby cortical areas, located in fronto-mesial regions, involved in the control of the muscular tone of the lower limbs and of the pelvic floor muscles.