Síndromes epilépticos parciales idiopáticos / Idiopathic partial epilepsy syndromes

Objetivo. Nos propusimos con este trabajo revisar las características más importantes de los síndromes epilépticos parciales idiopáticos reconocidos por la Clasificación Internacional de las epilepsias y síndromes epilépticos y de otros síndromes que se han descrito, pero aún no han sido incluidos en la Clasificación Internacional de las epilepsias y síndromes epilépticos, con énfasis en el cuadro clínico, aspectos electroencefalográficos y en la evolución. Desarrollo. Los síndromes epilépticos parciales idiopáticos se caracterizan por la ausencia de lesión cerebral subyacente y déficit neurológico o intelectual, existiendo en la mayoría de los casos una predisposición genética definida. Es frecuente la presencia de antecedentes familiares de epilepsia benigna. Las crisis comienzan por lo general después de los 18 meses de edad. El EEG interictal muestra una actividad de base normal y con frecuencia se observan descargas epilépticas focales. Conclusiones. Existen numerosos síndromes epilépticos parciales idiopáticos. Sin embargo, la mayoría de ellos no están incluidos en la Clasificación Internacional de las epilepsias y síndromes epilépticos. Pensamos que se debe profundizar en su estudio y consideramos que el reporte de un mayor número de casos y los continuos avances de la genética contribuirán indudablemente a una mejor comprensión de estos síndromes y a su inclusión en la Clasificación Internacional de las epilepsias y síndromes epilépticos (AU)

[Idiopathic partial epilepsy syndromes]. / Síndromes epilépticos parciales idiopáticos.

OBJECTIVE: In this paper we wish to review the main characteristics of idiopathic partial epilepsy syndromes recognized in the International Classification of epilepsies and epileptic syndromes and of other syndromes which have been described but not yet included in this classification, with special emphasis on the clinical condition, electroencephalographic aspects and progress. DEVELOPMENT: The idiopathic partial epileptic syndromes are characterized by the absence of a subjacent cerebral lesion and neurological or intellectual deficit. In most cases there is a definite genetic predisposition. There is often a family history of benign epilepsy. The seizures usually start after the age of 18 months. The interictal EEG shows basically normal activity but focal epileptic discharges are often seen. CONCLUSIONS: There are many idiopathic partial epileptic syndromes. However, most of them are not included in the International Classification of the epilepsies and epileptic syndromes. We believe that further study is necessary and consider that when more cases are reported and with continual advance of genetic studies there will be a consequent improvement in understanding of these syndromes and they will be included in the International Classification of epilepsies and epileptic syndromes.

[Reflex anoxic cerebral crises in children]. / Crisis cerebrales anóxicas reflejas en el niño.

OBJECTIVE: Reflex anoxic cerebral crises are due to depression of nerve function caused by a vagotonic state or vagal hypersensitivity. In this paper we propose to review the physiopathology, clinical features and diagnostic procedures of these crises. DEVELOPMENT: There are three types of reflex anoxic cerebral crises: asphyxiating anoxic crises, ischemic anoxic crises and asphyxiating-ischemic anoxic crises. They are caused by sudden activation of the so-called syncopal reflex. They are characterized by diverse clinical manifestations and may often be mistaken for epileptic crises. They are related to various precipitating factors such as a blow, often to the head, an emotional stimulus or something which upsets or molests, hyperthermia, abdominal pain, headache, physical exertion, prolonged standing-up, exposure to heat, the sight of blood, feeling of fear and other factors. CONCLUSIONS: Important elements for the diagnosis of these crises are the presence of a family history of vagal crises, the presence of precipitating factors, brief duration of the crises (seconds) in most patients, and clinical signs of facial or perioral pallor or cyanosis. The test involving pressure on the eyeball and the tilting table are useful for diagnosis. However, they should be used sensibly.

Crisis cerebrales anóxicas reflejas en el niño / Reflex anoxic cerebral crises in children

OBJECTIVE: Reflex anoxic cerebral crises are due to depression of nerve function caused by a vagotonic state or vagal hypersensitivity. In this paper we propose to review the physiopathology, clinical features and diagnostic procedures of these crises. DEVELOPMENT: There are three types of reflex anoxic cerebral crises: asphyxiating anoxic crises, ischemic anoxic crises and asphyxiating-ischemic anoxic crises. They are caused by sudden activation of the so-called syncopal reflex. They are characterized by diverse clinical manifestations and may often be mistaken for epileptic crises. They are related to various precipitating factors such as a blow, often to the head, an emotional stimulus or something which upsets or molests, hyperthermia, abdominal pain, headache, physical exertion, prolonged standing-up, exposure to heat, the sight of blood, feeling of fear and other factors. CONCLUSIONS: Important elements for the diagnosis of these crises are the presence of a family history of vagal crises, the presence of precipitating factors, brief duration of the crises (seconds) in most patients, and clinical signs of facial or perioral pallor or cyanosis. The test involving pressure on the eyeball and the tilting table are useful for diagnosis. However, they should be used sensibly (AU)

[Ischemic anoxic cerebral crises in children. Electrophysiological aspects]. / Crisis cerebrales anóxicas isquémicas en el niño. Aspectos electrofisiológicos.

INTRODUCTION: Ischemic anoxic cerebral crises are linked to cardio-inhibition in response to vagal hypersensitivity which causes cerebral ischemic. OBJECTIVE: In this paper we proposed to describe the clinical and electrophysiological features seen during the ocular compression test. PATIENTS AND METHODS: We studied 200 children with clinical findings suggesting ischemic anoxic cerebral crises with positive results on ocular compression testing. RESULTS: The ocular compression test provoked signs and symptoms, on average, in between 48.5% and 62.5% of the patients; generalized hypotonia and loss of consciousness were the most frequent signs. We found that the presence of clinical changes depended on the duration of the pause in heartbeat. There was also an association between the duration of the pause in heartbeat and the electroencephalographic findings. CONCLUSIONS: Identification of a state of vagal hypersensitivity is of considerable value in the positive differential diagnosis of cerebral crises in children, and of definite prognostic value.

Ataxia telangiectasia. Estudio con anticuerpos monoclonales. Presentación de un caso / Ataxia telangiectasia. Study with monoclonal antibodies. Presentation of a case

Se presenta un paciente de 11 años de edad con síntomas de afecciones cerebelosas, telangiectasia, lesiones eritematocostrosas en la piel y antecedentes de bronconeumonías a repetición, a quien se le diagnosticó una ataxia telangiectasia. Se estudia desde el punto de vista inmunológico, que incluye la evaluación de la población y subpoblaciones de células T con anticuerpos monoclonales y se detecta un déficit de la inmunidad celular y humoral. Se señalan diferentes aspectos que pueden explicar el estado de inmunodeficiencia en este paciente (AU)