Epilepsy and Behavior Case Reports最新文献

We report a case of impairment of consciousness (IOC) induced by electrical cortical stimulation (ECS) of homologous regions within the lateral frontal convexities in a patient with medically intractable epilepsy. The patient had mixed features of idiopathic generalized and focal epilepsy. On intracranial EEG recording, interictal and ictal discharges showed a high degree of synchrony across widespread bilateral fronto-parietal areas. We identified regions in the lateral frontal lobes that reliably and produced loss of consciousness by ECS. This was accompanied by evoked EEG activity of admixed frequencies over the fronto-parietal, mesial frontal and temporal regions during stimulation and was not associated with after-discharges. Symptoms were immediately reversible upon cessation of stimulation. This finding suggests that focal cortical stimulation can disrupt widespread networks that underlie consciousness. Individuals with high degrees of speculated thalamo-frontal cortical connectivity might be more susceptible to this effect, and the findings highlight the importance of standardizing the testing of level of consciousness during mapping sessions.

Although consciousness is commonly impaired in epileptic seizures, limited literature is available on loss of consciousness induced by electrical cortical stimulation (ECS) in humans undergoing intracranial EEG evaluations for localization of epileptic focus. One theory advocates the presence of consciousness ‘switch’ in subcortical structures. While this model is novel and simplistic, it has its inherent limitations. In this case study, we propose an alternative approach on the entity and discuss the complex circuits underlying it and correlate that with the electrophysiological findings and the pathophysiology of the phenotype of the disease and discuss potential causes for rarity of reports on the subject.

A 7-year-old previously healthy girl presented with a left-sided focal seizure without impaired consciousness and subsequently developed epilepsia partialis continua. Initial MRI was normal, and the subsequent images only showed a focal T2/FLAIR hyperintense area without cortical atrophy. She was diagnosed with Rasmussen syndrome by pathology and promptly treated with functional hemispherotomy. Rasmussen syndrome is a rare progressive neurological disorder, the only definitive cure for which is hemispheric disconnection. The disease presents a management dilemma, especially early in disease course without characteristic neuroimaging features. A high index of suspicion, multidisciplinary approach, and clear timely communication with the family are critical.

Shunt overdrainage represents a nebulous condition of variable clinical and imaging presentations, where the diagnosis is primarily clinical. The condition presents a diagnostic challenge particularly in patients with cognitive impairment and developmental delays. Here we present a 3-year-old boy with drug-resistant focal onset seizures due to hemimegalencephaly who previously underwent functional hemispherotomy followed by ventriculoperitoneal shunt placement for postoperative hydrocephalus. The subsequent clinical course was complicated by delayed diagnosis of shunt overdrainage in the absence of significant image findings. Maintaining a high index of suspicion for the possibility of shunt overdrainage is critical even in the face of unremarkable imaging findings.

Immune-mediated drug reactions are a potentially life-threatening complication of antiseizure medications. Drug hypersensitivity syndrome (DHS) is the best recognised of these, presenting with fever, eosinophilia, rash and internal organ involvement. Isolated lymphadenopathy is a less recognized immune-mediated reaction to antiseizure drugs such as lamotrigine. We describe the case of a 24-year-old woman who developed lamotrigine-related bilateral cervical lymphadenopathy (pseudolymphoma) fifteen months following therapy initiation. This is the second such case reported in the medical literature.

Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions.

GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications. These seizures arose from the right frontal region. An extensive metabolic and immunological evaluation was negative. Her brain magnetic resonance imaging (MRI) was negative, however the Positron Emission Tomography (PET) scan showed a hypermetabolic region in the right frontal inferior gyrus.

She underwent a depth electrode evaluation that revealed a widespread irritative zone involving the PET “lesion” as well as mesial and neocortical regions in the right frontal lobe. The seizure onset zone was widespread and non-localizable. However the GS were associated with a clear ictal epileptiform discharge on invasive EEG arising from the depth of the superior frontal gyrus, which was not overlapping with the PET hypermetabolic region. She underwent a right frontal lobectomy sparing the primary motor region in the pre-central gyrus. She has remained seizure free for 15 months since. The pathological analysis showed focal cortical dysplasia type II in the region of the PET scan hypermetabolism. This case expands the clinical spectrum of GS to include cases of NORSE. Additionally the case highlights the role of resective surgery in GS presenting as NORSE and the potentially excellent outcome that can be achieved by early intervention.

Perampanel is the first-in-class selective and noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist. It is authorized in the U.S. and Europe as an add-on antiepileptic drug for partial-onset seizures, and for primary generalized tonic–clonic seizures. Single reports have also indicated a potential efficacy for myoclonic jerks. Here, we report a patient whose drug-resistant epilepsia partialis continua completely resolved after adding perampanel. She has remained seizure-free in an eighteen-month follow-up period. Epilepsia partialis continua reemerged transiently after perampanel was temporarily discontinued, with no recurrence after its reintroduction. Therefore, this effect was reproducible, and suggests that it might be worth trying perampanel in similar settings.

Dyke–Davidoff–Masson syndrome (DDMS) is a rare, but important cause of drug-resistant seizures. Dyke–Davidoff–Masson syndrome is a constellation of clinical features that consists of hemiparesis, seizure, facial asymmetry, and intellectual disability with distinct neuroimaging features. A 27-year-old lady presented to us with drug-resistant epilepsy, hemiparesis, and intellectual disability that necessitated her withdrawal from school. Her brain magnetic resonance imaging (MRI) showed cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses consistent with DDMS. We discuss the diagnostic and therapeutic implications of DDMS and advocate early referral and evaluation of people with epilepsy in sub-Saharan African settings.

Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy. ‬Three then underwent surgery; right temporal neocortical resection, right functional hemispherectomy and placement of a vagus nerve stimulator. Clinical findings and the patients' ultimate courses are discussed.

We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic–clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fragmented clonic seizures. The patient recovered his intellectual abilities and began to walk again with assistance. We suggest that PER be considered as one of the key drugs used to treat patients with DRPLA.