[Genetically determined epileptic encephalopathies]. / Encefalopatías epilépticas determinadas genéticamente.

Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.

Las encefalopatías epilépticas es un grupo de síndromes epilépticos caracterizados por el deterioro cognitivo más allá de lo esperado debido a la actividad epiléptica. Se caracterizan por presentar resistencia farmacológica grave, electroencefalogramas profundamente anormales, inicio en la niñez temprana, deterioro neurocognitivo, fenotipo variable y resonancia magnética de cerebro usualmente normal. Frecuentemente estos síndromes están genéticamente determinados. Su diagnóstico correcto y oportuno puede contribuir y guiar el consejo médico y terapia adecuada, influyendo así en el pronóstico a corto, mediano y largo plazo. En este artículo se revisan los hallazgos electroencefalográficos, genéticos y opciones terapéuticas más recomendadas, facilitando así la conducta clínica. Las encefalopatías epilépticas incluidas en este artículos abarcan los síndromes de Ohtahara, encefalopatia mioclónica temprana, epilepsia focal migratoria de la infancia, West, Dravet, estado mioclónico en encefalopatías no progresivas, Doose, Lennox-Gastaut, Landau-Kleffner y epilepsia con espiga-onda continuas durante el sueño de onda lenta.

Encefalopatías epilépticas determinadas genéticamente / Genetically determined epileptic encephalopathies

Las encefalopatías epilépticas es un grupo de síndromes epilépticos caracterizados por el deterioro cognitivo más allá de lo esperado debido a la actividad epiléptica. Se caracterizan por presentar resistencia farmacológica grave, electroencefalogramas profundamente anormales, inicio en la niñez temprana, deterioro neurocognitivo, fenotipo variable y resonancia magnética de cerebro usualmente normal. Frecuentemente estos síndromes están genéticamente determinados. Su diagnóstico correcto y oportuno puede contribuir y guiar el consejo médico y terapia adecuada, influyendo así en el pronóstico a corto, mediano y largo plazo. En este artículo se revisan los hallazgos electroencefalográficos, genéticos y opciones terapéuticas más recomendadas, facilitando así la conducta clínica. Las encefalopatías epilépticas incluidas en este artículos abarcan los síndromes de Ohtahara, encefalopatia mioclónica temprana, epilepsia focal migratoria de la infancia, West, Dravet, estado mioclónico en encefalopatías no progresivas, Doose, Lennox-Gastaut, Landau-Kleffner y epilepsia con espiga-onda continuas durante el sueño de onda lenta.

Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.

The masks of identities: who's who? Delusional misidentification syndromes.

Delusional misidentification syndromes (DMSs) are complex psychotic phenomena that may be present in a variety of ways within the context of several neurological and psychiatric disorders. Since the first case of Capgras syndrome was described in 1923, various other syndromes have been identified, including Fregoli syndrome, intermetamorphosis, subjective doubles, reduplicative paramnesia, mirrored self, delusional companions, and clonal pluralization of the self. In this article, we review each of the different syndromes in definition and presentation, as well as the field's attempts at classifying them. We then describe their role in forensic psychiatry, particularly in regard to their potential as a marker of a particular subpopulation or of illness severity and their consideration in risk assessments of violence. A review of the literature was conducted for this purpose, and, although it was extended to include publications from over four decades, it revealed a paucity of research on DMSs.

Terminology and classification of the cortical dysplasias.

BACKGROUND: There have been difficulties in achieving a uniform terminology in the literature regarding issues of classification with respect to focal cortical dysplasias (FCDs) associated with epilepsy. OBJECTIVE: S: To review and refine the current terminology and classification issues of potential clinical relevance to epileptologists, neuroradiologists, and neuropathologists dealing with FCD. METHODS: A panel discussion of epileptologists, neuropathologists, and neuroradiologists with special expertise in FCD was held. RESULTS: The panel proposed 1) a specific terminology for the different types of abnormal cells encountered in the cerebral cortex of patients with FCD; 2) a reappraisal of the different histopathologic abnormalities usually subsumed under the term "microdysgenesis," and suggested that this terminology be abandoned; and 3) a more detailed yet straightforward classification of the various histopathologic features that usually are included under the heterogeneous term of "focal cortical dysplasia." CONCLUSION: The panel hopes that these proposals will stimulate the debate toward more specific clinical, imaging, histopathologic, and prognostic correlations in patients with FCD associated with epilepsy.

[Colloid cyst of the third ventricle: case description and survey of the literature]. / Quiste coloide del tercer ventrículo: descripción de un caso y revisión de la bibliografía.

INTRODUCTION: Colloid cysts are intracranial lesions with an estimated incidence of three individuals per million people per year. They are benign tumours in the anterosuperior portion of the third ventricle. The normal flow of cerebrospinal fluid may be interrupted by a large cyst that obstructs the foramen of Monro. The associated signs and symptoms cover a wide range of features, from non specific headaches to intracranial hypertension data; some colloid cysts occur at the acute onset of hydrocephalus and can lead to a sudden death. CASE REPORT: We present the case of a patient with a colloid cyst in the anterior roof of the third ventricle, with the presence of a dysfunctional ventriculo peritoneal bypass valve, which had been introduced three years earlier. Both events contributed to the development of a hydrocephalus with clinical manifestations of intracranial hypertension. The images obtained by magnetic resonance (MR) revealed the presence of a hyperintense mass of variable density in the roof of the third ventricle and in its rostral face; the image was hyperintense in T1 and isointense in T2. The patient was submitted to an endoscopic cisternoventriculostomy to allow the surgical drainage of the colloid cyst, and management was continued in the outpatients department of the Neurosurgery Service. CONCLUSIONS: In this paper we discuss the main characteristics of the colloid cyst, some considerations on its presentation in MRI are presented and a brief survey of the literature is also conducted.

La RNM en el estudio de los lóbulos temporales / Nuclear Magnetic Resonance in the exploration of temporal lobe lesions

La RNM ha probado ser una técnica de alta sensibilidad diagnóstica en la exploración de las lesiones de los lóbulos temporales. En la actualidad se la considera como método de elección, debido a la capacidad de examen multiplano, la exquisita definición anatómica, la anulación de artefactos en base de cráneo y fosa media y las ventajas propias de la cateterización tisular, lo que permite el diagnóstico específico de entidades tales como la esclerosis mesial y la gliosis del hipocampo, las heterotopías y algunas malformaciones vasculares no detectables con TC. Se realiza una revisión anatómica de las regiones temporales y se presentan los casos más representativos de una serie de 15 pacientes portadores de epilepsia parcial, cuyos diagnósticos etiológicos se realizan exclusivamente con RNM

La RNM en el estudio de los lóbulos temporales / Nuclear Magnetic Resonance in the exploration of temporal lobe lesions

La RNM ha probado ser una técnica de alta sensibilidad diagnóstica en la exploración de las lesiones de los lóbulos temporales. En la actualidad se la considera como método de elección, debido a la capacidad de examen multiplano, la exquisita definición anatómica, la anulación de artefactos en base de cráneo y fosa media y las ventajas propias de la cateterización tisular, lo que permite el diagnóstico específico de entidades tales como la esclerosis mesial y la gliosis del hipocampo, las heterotopías y algunas malformaciones vasculares no detectables con TC. Se realiza una revisión anatómica de las regiones temporales y se presentan los casos más representativos de una serie de 15 pacientes portadores de epilepsia parcial, cuyos diagnósticos etiológicos se realizan exclusivamente con RNM

QEEG in a public health system.

For the past decade the Cuban Neuroscience Center has organized on behalf of the Ministry of Public Health of the Republic, a nationwide Program for the introduction of quantitative EEG (qEEG). This Program has involved a) development of standardized equipment for "paperless" EEG, qEEG and brain topography; b) establishment of a network of 21 laboratories of clinical neurophysiology; c) creation of the specialty of clinical neurophysiology which trains physicians from all provinces in both traditional and quantitative electrophysiological methods; d) introduction of standardized protocols for the collection of clinical and electrophysiological information; e) organization of a national normative and neuropsychiatric database; f) establishment of normative regression equations. Among the special issues discussed are: 1) relationship between traditional and quantitative methods; 2) evaluation of the effectiveness of the technology introduced; 3) use of qEEG in the early detection of brain dysfunction.

Enfermedad Cerebrovascular: registro de datos del Servicio d Neurología Hospital Universitario de Caracas / Cerebral and vascular diseases: register of dates of Neurology Service

Se reportan los datos obtenidos del estudio de 572 pacientes con Enfermedad Cerebrovascular ingresados al Servicio de Neurología del Hospital Universitario de Caracas entre 1981 y 1984 siguiendo un protocolo ad-hoc. Un total de 321(56,1 por ciento) fueron diagnósticados como trombóticos, 74 (12,9 por ciento) como cardioembólicos, 85(14,9 por ciento) como hemorragias intraparenquimatosas y 92 (16,1 por ciento) como hemorragia subaracnoidea primaria. Los principales factores de riesgo fueron: Hipertensión Arterial: 57,3 por ciento, Cardiopatía Embolígena: 12,9 por ciento y Diabetes Mellitus: 19,3 por ciento. La mortalidad hospitalaria fue determinada en un subgrupo de 139 pacientes, siendo los resultados: Mortalidad General: 16,5 por ciento; Trombóticos: 10,9 por ciento; Embólicos: 21,4 por ceinto; Hemorragia Intraparenquimatosa: 26,3 por ciento y Hemorragia Subaracnoidea: 10,3 por ciento

[Myoclonus and epilepsies in children]. / Myoclonies et épilepsies chez l'enfant.

The possible associations of myoclonic phenomena, progressive or non progressive encephalopathies and epileptic phenomena are reviewed with special emphasis on childhood. This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with myoclonic seizures or epileptic syndromes (Progressive myoclonus epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) myoclonic epilepsies. In the first group, which also includes physiological myoclonus, a more thorough description of "benign sleep myoclonus of newborn" and "benign myoclonus of early infancy" is given. Characteristic of group 2 are "Kinsbourne syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis problems with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed, meaning that "Progressive Myoclonus Epilepsies" are always in fact progressive encephalopathies presenting with myoclonic types of seizures or epileptic syndromes among other neurologic and psychologic signs and symptoms. Major and rare causes are reviewed. The term major is applied to typical features or to frequency, whereas rare causes include not only those what are rarely seen, but also some myoclonic variants of diseases which usually have different symptoms. The fourth group refers to severe epilepsies, mainly in infancy and childhood, which lead to mental retardation irrespective of their cause. The assumption is that diffuse and persistent epileptic activity may interfere with normal development of the higher cerebral functions. "West syndrome" and "Lennox-Gastaut syndrome" are the more representative examples and may present with myoclonic type of seizures, but they are not dealt with in detail here. Group 5 comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, such as "benign myoclonic epilepsy of infancy" and "juvenile myoclonic epilepsy", from those which are cryptogenic and carry a more cautious prognosis--i.e.: "cryptogenic myoclonic and myoclono-astatic epilepsies" and "Severe myoclonic epilepsy of infancy". Finally other epileptic syndromes usually not considered as myoclonic epilepsies, but presenting sometimes myoclonic seizures, are mentioned.