A 22 year-old woman suffered from recurrent episodes of hypersomnia, apathy, and hyperphagia. The symptoms occurred 3 to 4 times per year, and each attack lasted 2 to 3 weeks. 99mTc-ethylcysteinate dimer brain single photon emission computed tomography (SPECT) was performed during symptomatic and asymptomatic periods. To localize brain regions ...

The occurrence of an aura is often considered evidence of a partial rather than an idiopathic generalized epilepsy syndrome. The authors examined this hypothesis by prospectively recording reports of auras by patients being admitted for video-EEG monitoring. Auras were equally common (70%) among patients with idiopathic generalized epilepsy as they ...

Markand and Blume first realized the specificity of the EEG pattern of multiple independent spike foci (MISF) in the late 1970s; its close relation with hypsarrhythmia and slow spike-waves, extensive bilateral brain lesion, and intractable seizures. But they did not recognize it as an epileptic syndrome. On the other hand, ...

Ohtahara syndrome (OS) is well known as a peculiar early onset epileptic syndrome with serious prognosis. The outline of OS, mainly in relation to the evolution with age, and differentiation from related conditions, particularly early myoclonic encephalopathy (EME) were mentioned. Etiologically, structural brain lesions are most probable in OS, and ...

Care must be exercised not to intermingle with classification of seizures and classification of epilepsies in an inconsistent fashion. Criteria for each class must be defined as clearly as possible, and these criteria must be those which are necessary for classifying any given case. The international classification first proposed by ...

Early myoclonic encephalopathy (EME) and the Ohtahara syndrome are currently listed as two separate syndromes in the classification of epilepsies. The most prominent differentiating points are the observations that patients with Ohtahara syndrome experience predominantly tonic seizures; their seizures evolve to infantile spasms and the prognosis is often worse than ...

The efforts of the International League against Epilepsy (ILAE) to devise classifications of the epilepsies has greatly improved communication among epileptologists and influenced both basic and clinical research. Several classifications have been proposed since 1970; the most recent classification of epilepsy syndromes and epilepsies was published in 1989. Since 1997, ...

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare neurologic disorder complicating the chronic abuse of alcohol. This acute or subacute condition is characterized by transient neurologic deficits, seizures and severe lateralized abnormalities on the electroencephalogram (EEG). Our case demonstrates that in SESA syndrome, convulsive (generalized tonic-clonic) and ...

Eyelid myoclonia with absences (EMA) and juvenile myoclonic epilepsy (JME) are two separate epileptic syndromes included in the new classification of epilepsies and epileptic syndromes by ILAE in 2001. Both are idiopathic generalized epilepsies with their clinical onset in the first two decades. EMA is characterized by eyelid myoclonia associated ...

The authors propose to define the epileptic syndromes with continuous spikes and waves during slow sleep (CSWS) as a cognitive or behavioral impairment acquired during childhood, associated with a strong activation of the interictal epileptiform discharges during NREM sleep--whatever focal or generalized--and not related to another factor than the presence ...

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 ...

OBJECTIVE: 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. METHOD: The authors investigated cortical 5-HT2A receptor binding in eight ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

"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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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). ...

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 ...

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 ...

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 ...

BACKGROUND: 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. METHODS: We used a ...

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 ...

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 ...

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.

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...