Search Results
Results 351 - 400 of 862
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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. ...
Nordli Douglas R DR - - 2005
There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; ...
Kagitani-Shimono Kuriko - - 2005
PURPOSE: We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf-Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures and status epilepticus. METHODS: We reviewed 11 cases of Wolf-Hirschhorn syndrome (age range, 2-25 years; SD, 7.2 years) and who were treated in Osaka University or ...
Panayiotopoulos Chrysostomos P - - 2005
This chapter assesses probable epileptic syndromes within the idiopathic generalized epilepsies (IGE) that have not yet been recognized by the International League Against Epilepsy (ILAE). Jeavons syndrome, a purely reflex IGE that predominantly manifests with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, is the most distinct and undisputed ...
Wolf Peter - - 2005
Early in these proceedings, the origin of the three terms in the title, "idiopathic generalized epilepsy," is discussed with respect to their significance over time, and typical misunderstandings. In the mid-20th century, a rather chaotic use of a multitude of often loosely defined terms had developed, which increasingly became an ...
Jallon Pierre - - 2005
Idiopathic generalized epilepsies (IGEs) are a relatively new category of disorders defined by strict clinical and electroencephalogram (EEG) features proposed by the International League Against Epilepsy (ILAE) classification of epileptic syndromes. IGEs are usually easy to diagnose when clinical and EEG data are collected, but epilepsy is not synonymous with ...
Hirsch E - - 2005
Childhood is a time of considerable importance for the onset of epilepsy syndromes. Selection of an appropriate antiepileptic drug (AED) is central to its successful management. Different AEDs have various effects depending on whether seizures are focal or generalized and this is often used as a rational basis for drug ...
Ferrie Colin D - - 2005
Classification of epileptic seizures and epilepsy syndromes as either focal or generalized is a fundamental and early part in the diagnostic process and is generally fairly easily accomplished. However, in patients with idiopathic generalized epilepsies, seizure and EEG features may suggest, particularly to the unwary, the occurrence of focal rather ...
Boscolo S - - 2005
The Landau-Kleffner syndrome, the continuous spikes-waves during slow sleep syndrome and the benign epilepsy of childhood with rolandic spikes are rare childhood epilepsies with unknown etiology. Improvement in patients treated with immunoglobulin suggests an involvement of the immune system. We provide immunohistochemical evidence of autoantibodies against rat brain auditory cortex, ...
Yagi Kazuichi - - 2004
Zonisamide is a new type of benzisoxazole derivative, first marketed in Japan in 1989. This study analyzed: (1) the drug's efficacy by seizure and epilepsy type in a total of 1008 patients treated during the development of zonisamide in Japan; (2) the effectiveness of zonisamide for 726 newly-diagnosed patients treated ...
Lux Andrew L - - 2004
PURPOSE: To reach a broad consensus on case definitions, outcomes, and outcome measures that will ease future study design and facilitate comparison of data from different studies of infantile spasms and West syndrome. METHODS: Persons who had recently presented or published first-author original research in this field were invited to ...
de la Torre Carlos - - 2004
Gianotti-Crosti syndrome (GCS), or papular acrodermatitis of childhood, is a distinctive self-limiting rash with symmetrically distributed papules on the face, buttocks, and extremities that has been related to several underlying viral diseases. We report a case of a boy exhibiting involutive lesions of milkers' nodules who subsequently developed a rash ...
Verloes Alain - - 2004
We report a female patient with a unique pattern of pre- and postnatal growth deficiency, tetralogy of Fallot, very long eyelashes (trichomegaly), progressive and generalized hypertrichosis lanuginosa, brain atrophy with epilepsy, and puffy hands and feet. This appears to be a "new" entity within the group of syndromal hypertrichoses, possibly ...
Suresh Poovathinal A - - 2004
Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities may co-exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two ...
Jain S - - 2004
OBJECTIVES: To investigate the contribution of hereditary factors in the causation of different epilepsy syndromes. MATERIAL AND METHODS: Occurrence of seizures among first- and second-degree relatives of 5628 Indian probands with epilepsy, and 3357 probands with non-epilepsy neurological disorders (who acted as control population) was documented. Syndromic concordance between epilepsy ...
Grosso Salvatore - - 2004
Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X ...
Ceulemans Berten - - 2004
Severe myoclonic epilepsy in infancy, or Dravet syndrome, is one of the catastrophic epilepsy syndromes. In the past, treatment was mainly based on valproate and phenobarbital. Recently, some of the new antiepilepsy drugs, such as topiramate and stiripentol, have been shown to be promising in the treatment of this epilepsy ...
Vigliano, Piernanda
We report the clinical, electroencephalo-graphic and neuroradiologic findings of a patient with supernumerary der(22) syndrome-partial 22 trisomy, derived from a (11;22) maternal translocation-and a wide spectrum of cerebral malformation. Magnetic resonance study evidenced a partial midline defect (hypoplasia of the corpus callosum, mild dilatation of the mid portion of the ...
Taylor Isabella - - 2004
Although epileptic photosensitivity is well known, its genetics and syndromic associations are incompletely understood. Seizures triggered by photic stimulation are usually a manifestation of the idiopathic generalized epilepsies, especially juvenile myoclonic epilepsy (JME), or of the occipital epilepsies. Idiopathic photosensitive occipital epilepsy (IPOE) is a focal epilepsy with colourful elementary ...
Dunn David W - - 2004
PURPOSE: A severity rating for each of the pediatric epilepsy syndromes can contribute to a more comprehensive understanding of seizure condition severity. We describe the development of the Epilepsy Syndrome Severity Scores-Child (ESSS-C). METHODS: The Delphi Technique was used to establish severity scores for pediatric epileptic syndromes as defined by ...
Wieser Heinz-Gregor - - 2004
Experts discussed the definition, natural history, pathologic features, pathogenesis, electroclinical, neurophysiological, neuropsychological, structural and functional imaging findings, as well as surgical outcome in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). After a long-lasting consensus process the ILAE Commission Neurosurgery of epilepsy accepted the resulting conclusions as state-of-the art report ...
Goldstein Joshua L - - 2004
Children who present either to the pediatrician's office or the emergency department with seizures should undergo a careful and detailed history and physical examination. This is done to distinguish between epileptic and nonepileptic events and to characterize among acute symptomatic, remote symptomatic, and idiopathic etiologies. An EEG is obtained both ...
Hommet C - - 2004
Research in brain-damaged patients has suggested that the right hemisphere plays a role in unilateral spatial neglect (USN), but provides only limited information for pinpointing the intraparietal localization of the lesions associated with this syndrome. We report a case of unilateral neglect in a patient who underwent a right inferior ...
Vadlamudi L - - 2004
OBJECTIVE: To classify the Lennox twin pairs according to modern epilepsy classifications, use the classic twin model to identify which epilepsy syndromes have an inherited component, search for evidence of syndrome-specific genes, and compare concordances from Lennox's series with a contemporary Australian series. METHODS: Following review of Lennox's original files ...
Ahnlide J A - - 2004
In the congenital bilateral perisylvian syndrome, pseudobulbar symptoms, cognitive deficits and cortical malformations in the perisylvian region are typical features. We report two initially magnetic resonance imaging (MRI) negative patients from our epilepsy surgery program that shared the same seizure and ictal SPECT characteristics suggesting seizure onset localized in the ...
Ganguly Sutapa - - 2004
Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last ...
Somjit Sriudomkajorn - - 2004
We report a 27 year-old man with intellectual disability and no prior history of seizures who presented with episodes of abdominal pain, head/eye version and unresponsiveness that were misdiagnosed and treated as partial seizures. Associated vomiting and haematemesis led to the correct diagnosis and treatment of reflux oesophagitis. The episodes ...
Pardal-Fernández J M - - 2004
OBJECTIVE: To describe a specific electroclinical type of epileptic seizure in a patient with Rett syndrome. PATIENT AND METHODS: We present the case of a girl with Rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a ...
Rae Caroline - - 2004
Gender differences in brain morphology have previously been reported in the temporal lobe and an 'X-chromosome dosage effect' has been described in Turner syndrome (45,X). To examine this further, we investigated temporal lobe morphology, metabolism and function in nine children with non-mosaic Turner syndrome using magnetic resonance imaging, (1)H magnetic ...
Besag Frank M C - - 2004
Apart from control of the seizures, two of the most important factors in determining how well a child with epilepsy progresses toward independence are cognition and behavior. The diagnosis of the correct epilepsy syndrome often provides information with regard to probability of good seizure control and intellectual outcome. However, relatively ...
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