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Results 351 - 400 of 891
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Lee Céline - - 2006
L-2-hydroxyglutaric aciduria was diagnosed in a 9-month-old female infant after a complex febrile convulsion with subsequent transient left-sided hemiplegia. The symptoms were consistent with acute hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance imaging (MRI) of the brain revealed distinct white-matter abnormalities in the bifrontal and bioccipital periventricular area and increased signal intensity in ...
Nechay Alla - - 2006
We describe epileptic seizures including status epilepticus provoked by recurrent obstructive apnea in a child with Cornelia de Lange syndrome. From the age of 10 months, this boy had recurrent respiratory infections with obstructive apnea leading to cyanosis and loss of consciousness. Approximately, 25% of apneas were followed by clonic ...
Murphy Declan G M DG Institute of Psychiatry, Department of Psychological Medicine, London, UK. - - 2006
The cause of autistic spectrum disorder (i.e., autism and Asperger's syndrome) is unknown. The serotonergic (5-HT) system may be especially implicated. However, cortical 5-HT2A receptor density in adults with the disorder has not been examined, to the authors' knowledge. The authors investigated cortical 5-HT2A receptor binding in eight adults with ...
Nieuwenhuis Lotte - - 2006
Epilepsy with continuous spike- and -waves during slow-wave sleep and Landau-Kleffner syndrome are two rare childhood epilepsy syndromes. The underlying pathophysiology remains unknown. The current opinions about epidemiologic risk factors, genetic predisposition, EEG and MEG findings, influence of anti-epileptic drugs, neuroradiology, positron emission tomopgraphy, evoked potentials, auto-immunity and subpial transection ...
Korff Christian M - - 2006
An increasing number of infantile epilepsy syndromes have been recognized. However, a significant number of infants (children aged 1-24 months) do not fit in any of the currently used subcategories. This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early ...
van Rijckevorsel K - - 2006
Neurocognitive impairment is frequent in epilepsy patients. Causes are multiple, and may be influenced by several factors including the epilepsy syndrome. Most cognitive complaints in adult patients are mental slowness, memory difficulties and attention deficits. In children, cognitive problems are more diffuse, responsible for language troubles, learning difficulties, poor academic ...
Chen Horng-An - - 2006
Middle lobe syndrome - recurrent atelectasis and/or bronchiectasis involving the right middle lobe and/or lingula - has, up to now, not been reported as the pulmonary manifestation of primary Sjögren's syndrome. We describe a patient in whom lymphocytic bronchiolitis in the atelectatic lobes was proved histologically from two separate transbronchial ...
Kikumoto Kenichi - - 2006
We report on a 4-year 8-month-old boy with Panayiotopoulos syndrome who showed atypical evolution with newly developed absence seizures and EEG exacerbation induced by carbamazepine. Soon after the introduction of carbamazepine, EEGs began to worsen, and finally absence seizures and myoclonic seizures appeared. Immediately after we discontinued carbamazepine, the seizures ...
Ferrie Colin - - 2006
The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of Panayiotopoulos syndrome (PS). An international consortium of established researchers in the field collaborated to produce a consensus document. The resulting document defines PS, characterizes its electro-clinical features, considers its ...
Corda Davide - - 2006
Patients with the syndrome of mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) may rarely present with complex partial status epilepticus (CPSE) at clinical onset. We report on a 38-year-old woman with MELAS presenting with multifocal CPSE and periodic lateralized epileptiform discharges (PLEDs) on EEG during her first strokelike episode. ...
Goldman Alica M - - 2006
Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abnormalities in patients with Smith-Magenis syndrome with defined chromosomal rearrangements and ...
Sevgi Demirci Eser Basak - - 2006
"Eyelid myoclonia with and without absences" has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensivity. EMA can be a ...
Jacob Saiju - - 2006
Juvenile myoclonic epilepsy constitutes 5-10% of idiopathic generalised epileptic syndromes. The clinical triad of absence seizures, myoclonic jerks and generalised tonic clonic seizures (GTCS) rarely begin after the second decade of life. We present the case of a 74-year-old lady presenting for the first time with myoclonic jerks and absences. ...
Besag Frank M C - - 2006
The educational and social progress of a child with epilepsy depends not only on seizure control but also on cognitive and behavioral factors. The various epilepsy syndromes of childhood and adolescence differ greatly in terms of cognitive and behavioral outcome. A high proportion of babies who have West syndrome and ...
Velez Alberto - - 2006
PURPOSE: A national study was performed in Colombia to determine the general and regional prevalence of epilepsy, clinical profiles, seizure types, and clinical syndromes. METHODS: Based on the National Epidemiological Study of Neurological Diseases (EPINEURO), we evaluated and followed up for 1 year all the subjects with epilepsy from the ...
Stephani Ulrich - - 2006
The purpose of this article is to present a short review of the natural history of myoclonic astatic epilepsy (MAE; Doose syndrome) and the Lennox-Gastaut syndrome (LGS). In the 1989 classification of the International League Against Epilepsy (ILAE, 1989), MAE and LGS were initially included in group 2.2: "Cryptogenic or ...
Welty Timothy E - - 2006
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome that begins most frequently in the early teenage years. It is officially classified as a type of idiopathic generalized epilepsy and is often under-recognized or misdiagnosed. This syndrome has a strong genetic component with multiple gene mutations being associated with the ...
Gobbi Giuseppe - - 2006
Benign childhood epilepsy with centrotemporal spikes (BCECTS) is an idiopathic focal epilepsy syndrome, the benign characteristics of which are debated; in fact, stable or intermittent specific neuropsychological deficits are frequent and may affect scholastic or adaptive abilities. Cognitive dysfunction may be related to a marked increment of the interictal epileptic ...
Auvichayapat Narong - - 2006
Kluver-Bucy syndrome is a rare neurobehavioral condition characterized by visual agnosia, excessive oral tendencies, hypermetamorphosis, placidity, altered sexual behavior, and changes in dietary habits. This description of a 14-year-old boy presenting with complete Kluver-Bucy syndrome after Mycoplasma pneumoniae bronchitis is the first such case report. MRI revealed left temporal horn ...
Carney Patrick - - 2005
BACKGROUND: Understanding the common childhood epilepsy syndromes is valuable when approaching the diagnosis and management of a child presenting with seizures. OBJECTIVE: This article discusses the common epilepsy syndromes in children and provides a guide to appropriate investigation and management of these syndromes. DISCUSSION: A careful history and examination, supported ...
Amâncio Edson José - - 2005
Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers ...
Bahi-Buisson Nadia - - 2005
Hemiconvulsions-hemiplegia-epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13-month-old male who presented with febrile left-sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). ...
Parisi Pasquale - - 2005
OBJECTIVE: To describe the ictal polysomnographic features of a patient with Panayiotopoulos syndrome, a peculiar epileptic syndrome characterized by infrequent, often single, prolonged, nocturnal, focal seizures comprising an unusual constellation of autonomic symptoms (malaise, nausea, pallor, tachycardia, vomiting) and unilateral deviation of the eyes at the onset of seizures. These ...
Vanagt W Y - - 2005
A girl with Angelman syndrome had recurrent episodes of ventricular asystole and syncope caused by severe vagal hypertonia during outbursts of laughing. After intravenous administration of atropine, laughing no longer induced asystole or syncope. The vast majority of patients with Angelman syndrome have seizures. Since hypoxia associated with asystole can ...
Paprocka Justyna - - 2006
INTRODUCTION: Parry-Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry-Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may ...
Kurca Egon - - 2005
Allgrove syndrome is a rare autosomal recessive disease with achalasia, alacrima, adrenocortical insufficiency, autonomic neuropathy and other neurological disturbances. A case of two brothers with Addison s disease from early childhood is presented. The younger brother with Addison disease died at the age of 5. The older brother was treated ...
Olafsson Elias E Department of Neurology, Landspitalinn University Hospital, Reykjavik, Iceland. - - 2005
No population-based incidence studies of epilepsy have studied syndrome classification from the outset. We prospectively studied the incidence of a single unprovoked seizure and epilepsy in the population of Iceland, and applied the syndrome classification endorsed by the International League Against Epilepsy to this population. We used a nationwide surveillance ...
Vigre Håkan - - 2005
The clinical syndrome Postweaning Multisystemic Wasting Syndrome (PMWS) in pigs has emerged globally during the last decade. In October 2001, the first pig herd diagnosed with PMWS was reported in Denmark, and since then the number of herds diagnosed with PMWS has increased markedly. The etiology of PMWS is not ...
Kulkarni K - - 2005
Dyke-Davidoff-Masson syndrome is clinically characterized by hemiparesis, hemiplegia, seizures, mental retardation, and facial asymmetry secondary to congenital or early childhood vascular insult. A 21-year-old man with Dyke-Davidoff-Masson syndrome presented with uncontrolled seizures. The authors present the magnetic resonance (MR) and positron emission tomography (PET) findings of this syndrome.
Koutroumanidis Michael - - 2005
We describe a neurologically and developmentally normal child with infrequent seizures characterized by emetic symptoms and other autonomic phenomena and interictal spikes that satisfy the diagnostic criteria of Panayiotopoulos syndrome (PS). Two video/EEG recordings, taken a year apart, revealed prolonged autonomic seizures and other subtle behavioral changes, suggesting that episodes ...
Sugita Kiyoko - - 2005
The aims of this study were to identify the generator of the paroxysmal partial discharges in Panayiotopoulos syndrome by means of magnetoencephalography and to determine the significance of these formations in the epileptogenesis of the developing nervous system. We report magnetoencephalographic data for two cases of Panayiotopoulos syndrome showing the ...
Mastrangelo Massimo - - 2005
PURPOSE: To assess the advantages of the 2001 ILAE proposed diagnostic scheme for classification of newborns with epileptic seizures over the 1989 ILAE classification. METHOD: Clinical features, seizure semiology and duration, neurological evaluation, ictal and interictal EEG, brain imaging and outcome at the end of the neonatal period (44 weeks ...
Kondo Masashi - - 2005
Common variable immunodeficiency (CVID) is a primary disorder characterized by impaired antibody production. CVID patients may develop recurrent infections, autoimmune disorders, and malignant lymphomas, but to our knowledge, there is no report on CVID patients who develop acute disseminated encephalomyelitis (ADEM) or the Lennox-Gastaut syndrome. We describe a 1-yr-old female ...
Prats Viñas Jose Maria - - 2005
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very ...
Giampietro P F - - 2006
We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity ...
D'Arrigo Stefano - - 2005
Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual deficit, early arrest of psychomotor development, seizures, and cerebellar atrophy. A condition similar to PEHO syndrome, but without the neuroradiologic or ...
Baykan Betül - - 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 ...
Gupta R - - 2005
Corticosteroids (predominantly prednisolone and hydrocortisone) and adrenocorticotropic hormone (ACTH) have been used in the treatment of the epilepsies for over 50 years. Over the past 30 years most reports have focused on epilepsy syndromes and epileptic encephalopathies resistant to treatment with the more conventional anticonvulsant and antiepileptic drugs (AEDs) and ...
Gobbi Giuseppe - - 2005
Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized by occipital seizures. It may be benign or ...
Pakdemirli E - - 2005
Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with Wolfram syndrome. In ...
Kumada Tomohiro - - 2005
While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more ...
Stephenson John B P - - 2005
The 18q- syndrome is due to (terminal) deletion in the long arm of chromosome 18 with variable break points. The phenotype is also variable, with a variety of dysmorphisms, neurological deficits possibly related to haploinsufficiency of the gene for myelin basic protein, and frequent cardiac problems. The diagnosis of paroxysmal ...
Galv?n-Manso Marta - - 2005
Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13. Most patients with Angelman syndrome present with severe mental retardation, characteristic physical appearance, behavioral traits, and severe, early-onset epilepsy. We retrospectively reviewed the medical histories of 37 patients, all with the ...
Aktekin Berrin - - 2005
Progressive facial hemiatrophy (PFH), Parry-Romberg syndrome, is a rare disorder frequently associated with epilepsy. We describe a 28-year-old man who had PFH and partial epilepsy that was easily controlled with antiepileptic drugs. In accordance with this patient's benign course of seizures, the cortical silent period was prolonged in the symptomatic ...
Wang Pen-Jung - - 2005
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurobehavioral syndromes that are caused by deficiency of gene expression from paternally or maternally derived homologues on chromosome 15q11-q13, respectively. Clinical and genetic heterogeneities are common in both syndromes and they are now regarded as 'sister genetic imprinting syndromes'. ...
Nakken Karl O - - 2005
Epilepsia partialis continua (EPC), or Kojevnikov's syndrome, is a rare epileptic syndrome arising from a variety of lesions in the perirolandic area. We report herein a 46-year-old woman with drug-resistant EPC due to a cortical dysplasia in the left frontoparietal region. For 44 years she has suffered continuous right-sided jerks, ...
Varsik Pavel - - 2005
OBJECTIVES: Myoclonic epilepsy (ME) syndrome is not rare in north-eastern Europe; it is also seen in various forms. Familial occurrence of ME syndrome and acute intermittent porphyria (AIP) was observed in three siblings. The following report was aimed the differentiation between co-morbidity of two different disorders or presence the epileptic ...
Valente Kette D - - 2005
We describe an 18-year-old boy with a frontofacial syndrome. The presence of severe epilepsy led to a neuroimaging investigation, which revealed a diffuse pachygyric (normal thickness and simplified folding) cortex that was bilateral and affected all supratentorial regions, sparing the medial and inferior aspects of the frontal lobe plus the ...
Cheung Eddie - - 2005
A 15-year-old boy with inverted duplication of chromosome 15 was admitted for acute onset of irritability, increasing sleepiness, and worsening of seizures. He had been on valproate and other anti-convulsants. However, he was found to have hyperammonemia within 2 weeks after the addition of low-dose topiramate to valproate. He recovered ...
Kamida T - - 2005
CASE REPORT: An 11-month-old girl had an onset of oculogyric crisis at 2 months and she presented with epileptic spasms and generalized tonic seizures with series formation at 3 months. Her seizures were medically intractable and her development had gradually regressed after that. MRI showed severe lissencephaly in bilateral hemispheres. ...
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