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Zarczuk Radosław - - 2010
In recent years, the concept of an immunological background of some types of epilepsy has been gaining an increasing number of supporters. The following article is an attempt to review the most significant studies that explore irregularities in patients with intractable epilepsy, search for and identify the immunological causal factors ...
Muthugovindan Deivasumathy - - 2010
BACKGROUND: Pediatric epilepsies are a heterogeneous group of disorders that encompass various epilepsy syndromes ranging from benign to progressive and catastrophic. The past 2 decades have seen major advancements in the appreciation of epilepsy syndromes and their underlying mechanisms. Modern neuroimaging methods have helped to identify structural pathologies and genetic ...
Seneviratne Udaya - - 2010
Fyodor Dostoevsky is a great Russian writer who had epilepsy. As a consequence, there are many references to seizure-related phenomena in his work. His epilepsy syndrome has been a focus of debate. The goal of this article is to delineate his epilepsy syndrome based on a semiological description of seizures, ...
Correia Jason A - - 2010
Lennox-Gastaut Syndrome is a severe childhood epilepsy syndrome characterised by the diagnostic triad of a slow spike and wave pattern on electroencephalogram, multiple seizure types and developmental delay. Idiopathic intracranial hypertension is a syndrome characterised by raised cerebrospinal fluid pressure in the absence of an intracranial mass lesion or ventricular ...
Ferrie Colin D - - 2010
Lennox-Gastaut syndrome is a relatively rare epilepsy syndrome that usually begins in early-mid childhood and is characterized by multiple seizure types, particularly generalized seizures, which are often resistant to antiepileptic drug medication. Rufinamide is a new antiepileptic drug approved as adjunctive therapy to treat seizures in Lennox-Gastaut syndrome in those ...
Sepić-Grahovac Dubravka - - 2010
This article reports the case of a patient with partial agenesis of the corpus callosum manifested with corpus callosum syndrome together with signs of brain hemispheres dysfunction: mental impairment, epilepsy and pyramidal signs. The patient's malformation is combined with left-handedness while signs of callosal disconnection are not present. Mild cognitive ...
Sangani Masoud - - 2010
Late Onset Myoclonic Epilepsy in Down Syndrome (LOMEDS) is a recognized entity usually preceded by cognitive deterioration. We report two patients with LOMEDS and cognitive decline, aged 52 and 44 years. Continuous video-EEG recording showed generalised spike and slow wave complexes as an ictal correlate of the myoclonic jerks in ...
Ossola Maria - - 2010
Epileptic phenomena are usually not considered a possible cause of prolonged hallucinatory states such as Charles Bonnet syndrome (CBS). A 65-year-old woman with previous right hemorrhagic strokes developed complex visual hallucinations (CVHs), featuring CBS, and delayed palinopsic phenomena, along with new neurological signs and worsening of existing deficits. Video/EEG/polygraphy monitoring ...
Jain G - - 2010
We report a case where a patient presented with generalised tonic-clonic seizures secondary to nausea, vomiting and dehydration. She had suffered a postpartum haemorrhage six months previously. On laboratory assessment hyponatraemia and low hormone concentrations suggested pituitary failure. The diagnosis was confirmed by magnetic resonance imaging of the head, which ...
Michoulas Aspasia - - 2010
Lennox-Gastaut syndrome occurs in 3% of children with epilepsy and is characterized by multiple seizure types, slow spike-and-wave discharges and a poor prognosis for seizure control and cognitive development. Although randomized controlled trials of adjunctive felbamate, lamotrigine, topiramate and rufinamide have demonstrated a > or =50% reduction in seizure frequency, ...
Thomas Bejoy - - 2010
The purpose of this pictorial essay is to classify epilepsy syndromes due to inborn errors of metabolism according to age at onset and type of seizure and to show the MRI features of many of the syndromes. Epilepsy syndromes due to inborn errors of metabolism are rare, but it is ...
Kaciński Marek - - 2010
Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and ...
Kinoshita Hiroyuki - - 2010
DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. Spina bifida is caused by failure of neurulation, including a disturbance in the adhesion processes at the neurula stage. Spina bifida ...
Aizaki Koichi - - 2011
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although ...
Brncić Nada - - 2010
Splenic rupture is rare but life threatening complication of mononucleosis syndrome. It has been suggested that subcapsular splenic hematoma formation precedes rupture. The case of 44-year-old, previously healthy, male with splenic hematoma occurring after rising of heavy cargo is reported. Mononucleosis syndrome was suggested based on routine laboratory tests (elevated ...
Shimojima Keiko - - 2010
Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (MDS), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable seizures. Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in ...
Stein Diane - - 2010
Angelman syndrome is often associated with medically refractory epilepsy. Here, we report the case of a young girl with Angelman syndrome who experienced frequent and prolonged atonic seizures associated with dysautonomia and was unresponsive to multiple antiepileptic drugs, but who responded dramatically to the ketogenic diet. Clinicians are encouraged to ...
Joshi Devavrat - - 2010
A 34-year-old man with a seizure disorder had not been taking anticonvulsant medications regularly. A previous pattern of recurrent seizures resolved after restarting anticonvulsant drugs. Recent seizure episodes were followed by delirium and presentation of Capgras syndrome. A variety of functional and organic etiologies for Capgras syndrome are known. This ...
Berg Anne T - - 2010
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Generalized and focal are redefined for seizures as occurring in and rapidly engaging bilaterally distributed networks (generalized) and within networks limited to one hemisphere and either ...
Kokkinos Vasileios - - 2010
OBJECTIVE: To investigate the spatiotemporal course of interictal spikes in Panayiotopoulos syndrome (PS), and in particular whether seemingly independent extra-occipital spikes are truly autonomous or secondary, triggered by occipital spikes. METHODS: Seven children with the most representative interictal spike patterns on visual analysis were studied. Five had a single focus ...
Mastrangelo Mario - - 2010
Rasmussen's syndrome (RS) is a rare acquired progressive inflammatory encephalopathy characterized by drug-resistant partial seizures and cognitive deterioration resulting from a gradual impairment and a subsequent atrophy of a single brain hemisphere. It was firstly described by Theodore Rasmussen in 1958. The original etiopathogenic hypothesis of a chronic viral infection ...
Baldini Mariella - - 2010
Posterior reversible encephalopathy syndrome (PRES) is known to occur after solid organ transplantation, and is caused by immunosuppressive agents such as tacrolimus. PRES onset usually occurs within the first 2months after liver transplantation. Clinical findings include seizures, headache, focal neurological deficits, visual disturbances, and altered mental status. These are associated ...
Karagol Belma Saygili - - 2010
Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary leak syndrome and seizures to co-morbid status epilepticus related to perinatal hypoxic-ischemic encephalopathy in newborn ...
Doherty Michael J - - 2010
Mechanisms of sudden unexpected death in epilepsy (SUDEP) are incompletely understood in part because the overwhelming majority of patients are not undergoing video telemetry when they die. Described here is a patient with Tourette syndrome and epilepsy who displayed a dangerous compulsive tic resulting in carotid occlusions and seizures as ...
Zhang Hong-Liang - - 2010
Kabicek and colleagues described a case of nephritic-syndrome-associated posterior reversible encephalopathy syndrome (PRES) (Kabicek, et al. 2010). This adds to the accumulating evidence that PRES can be associated with disorders other than hypertension. However, we wonder how the authors would explain the neuroimaging findings unsuggestive of vasogenic oedema. PRES (also ...
Wheless James W - - 2010
The last 20 years have witnessed a tremendous explosion in the number of antiepileptic drugs (AEDs) as well as the introduction of AEDS developed for specific epilepsy syndromes. The study of the efficacy and side effect profile of AEDs for unique epilepsy syndromes has allowed neurologists to utilize evidence-based medicine ...
Kabicek Pavel - - 2010
We thank Drs. Zhang, Yang and Wu for their comments regarding our recent paper describing the case report of a 5-year-old patient with clinically and MRI diagnosed posterior reversible encephalopathy syndrome (PRES), alternatively referred as the reversible posterior leukoencephalopathy syndrome (Kabicek et al. 2010). On MRI this syndrome typically manifests ...
Haberlandt Edda - - 2010
For treatment of intractable epilepsies, there are no data comparing conventional adrenocorticotropic hormone and pulsatile corticoid therapy with dexamethasone. A retrospective comparison of efficacy was therefore conducted for both forms of application. Between 1989 and 2001, a series of 11 children with West syndrome and 3 with Lennox-Gastaut syndrome were ...
Westmark Cara J - - 2010
Amyloid-beta protein precursor (AbetaPP) is overexpressed in Alzheimer's disease (AD), Down syndrome (DS), autism, and fragile X syndrome. Seizures are a common phenotype in all of these neurological disorders, yet the underlying molecular mechanism(s) of seizure induction and propagation remain largely unknown. We demonstrate that AD (Tg2576) and DS (Ts65Dn) ...
Gresham Jessica - - 2010
Lennox-Gastaut syndrome (LGS) is a rare but debilitating pediatric epileptic encephalopathy characterized by multiple intractable seizure types. Treatment of LGS is challenging because of the small number of antiepileptic drugs (AEDs) which are effective for this syndrome, as well as the need for polytherapy in the majority of patients. This ...
Hsu Yu-Chuan - - 2012
Background: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with a wide range of multisystemic symptoms. Epileptic seizures are common features of both MELAS and meningoencephalitis and are typically treated with anticonvulsants. Objectives: To provide the reader with a better understanding of MELAS ...
Tsai Pei-Lin - - 2009
The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcemia, and immunodeficiency. Neurological manifestations of the chromosome 22q11 deletion syndrome are variable, and include mental deficiency, speech disturbances, learning difficulties, attention deficit hyperactivity disorder, and ...
Blaivas Allen J - - 2009
Middle lobe syndrome is a term that refers to a recurrent collapse of a lung segment, typically the right middle lobe. We discuss a case that middle lobe syndrome occurred in an unusual lung segment and related to an unusual cause.
Devinsky Julie - - 2010
A 51-year-old right-handed man developed hypersexuality after a second right temporal lobectomy to treat epilepsy. His hypersexuality started with increased marital intercourse and masturbation but he later downloaded child pornography. Hyperphagia and distractibility, other features of the Kluver-Bucy syndrome, also developed. Resection of the amygdala and/or temporal lobe neocortical areas ...
Andrade Danielle M - - 2010
Dravet syndrome is a genetically determined severe epilepsy associated with cognitive decline and ataxia. The many types of seizures seen in these patients are typically pharmacoresistant. Here we describe two adults with Dravet syndrome who were treated with thalamic deep brain stimulation (DBS) and followed for 10 years. One patient ...
Dan Bernard - - 2009
Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy, due to deficient UBE3A gene expression that may be caused by various abnormalities of chromosome 15. Recent findings in animal models demonstrated altered dendritic spine formation ...
Alvarez-Silva Iria - - 2010
An analysis is carried out of a set of psychic phenomena appearing always in the same way: an experience suddenly invades the consciousness, unfolding automatically and with great intensity. This psychic automatism, of which the patient is a passive observer, is accompanied by an overwhelming feeling of strangeness. Our hypothesis ...
Wakamoto Hiroyuki - - 2010
Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile ...
Cazorla María Rosario - - 2010
The authors report the case of an infant suffered from early infantile epileptic encephalopathy with suppression-burst, or Ohtahara syndrome, a severe form of epilepsy in early childhood. The patient was treated with vigabatrin causing a favourable response. This unusual outcome may be related with the normality of neuroimaging and metabolic ...
Cerminara Caterina - - 2010
Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly ...
Hammers A A MRC Clinical Sciences Centre, Imperial College London, South Kensington, Hammersmith Hospital, United Kingdom. - - 2009
There is no one ligand for visualising "the epileptogenic zone". Several PET ligands, however, can help by noninvasively or minimally invasively refining hypotheses regarding its location. Their relative merits depend not only on local availability and expertise, but also on epilepsy syndrome and overall diagnostic category. FDG, flumazenil (FMZ), alpha-methyl-tryptophan ...
Kasper B S - - 2009
Psychic and psychotic symptoms can be part of seizure-related symptoms, especially within the postictal phase in partial epilepsies. Among the classic examples are dysmnestic phenomena, visual and acoustic hallucinations, and more rarely delusional syndromes. Here we report about the unique seizure symptom of transformation towards the opposite gender in a ...
Maillard Louis - - 2010
Idiopathic partial reading epilepsy (RE) is a rare syndrome. We report the clinical and electroencephalographic characteristics of two right-handed patients with the following: reading-induced independent bilateral temporal lobe seizures, accompanied by alexia in left (dominant) sided seizures recorded on video-EEG (electroencephalography); subclinical activation over left posterior temporal and occipital electrodes ...
Caporale Christina M - - 2009
A 57-year-old man, operated eight years before for a left frontal falx meningioma, presented with short lasting, stereotyped episodes of paresthesias ascending from the right foot to the hand. A diagnosis of somatosensory seizures with jacksonian march was made. The patient was given antiepilectics but 5 days later, a few ...
Forrest Katharine M L - - 2009
Angelman syndrome is often associated with an intractable seizure disorder. We describe 4 children who demonstrated an excellent response to corticosteroid therapy. The benefits included not only reduction in clinical seizures but also modification of the "typical'' Angelman electroencephalogram. In addition, there was improvement in the myoclonic jerks, sleep pattern, ...
Zupanc Mary L - - 2009
The developing brain is particularly susceptible to seizures. Diffuse central nervous system pathology or injury in early infancy, when the brain is most vulnerable, may lead to catastrophic epilepsies such as Ohtahara's epileptic encephalopathy and early myoclonic epileptic encephalopathy. These epileptic encephalopathies are difficult to treat and have poor prognoses. ...
Wheless James W - - 2009
Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical studies examining the efficacies of antiepileptic medications in ...
Gerschlager Willi W Krankenhaus Hietzing mit Neurologischem Zentrum Rosenhügel, Vienna, - - 2009
This review examines recent developments in the field of myoclonus. The range of clinical features in myoclonic dystonia has been extended and its underlying pathophysiology better defined. The diverse causes leading to jerky tremor and orthostatic myoclonus have been clarified and the need to consider drugs as potential causes highlighted. ...
Andrade Danielle M - - 2009
BACKGROUND: Myoclonus is a brief shock-like movement that has many different etiologies. The degree to which it disturbs quality of life is extremely variable, as is its response to treatment. OBJECTIVE: In this review, we focus on the treatment strategies for epileptic myoclonus in some common disorders, and in others ...
Costello Daniel J - - 2009
BACKGROUND: The progressive myoclonic epilepsies (PMEs) are a disparate group of syndromes whose common features include disabling myoclonus, progressive cognitive decline, and seizures, typically with a relentless deterioration over time. OBJECTIVE: To report a novel PME syndrome. DESIGN: Case report. SETTING: Epilepsy service in a tertiary care urban medical center. ...
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