RESUMO
OBJECTIVE: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. CONCLUSIONS: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.
Assuntos
Idade de Início , Epilepsia/classificação , Epilepsia/etiologia , Neurologia , Pediatria , Encefalopatias/classificação , Criança , Pré-Escolar , Epilepsia/genética , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
AIM: A descriptive study of non-symptomatic epilepsy (idiopathic and cryptogenic), according to age at onset, monitored at a Neuropediatric Section of regional reference over a period of three years. PATIENTS AND METHODS: A review of neuropediatric database medical records of children with non-symptomatic epilepsy supervised from Jan 1, 2008 till December 31, 2010. RESULTS: Of the 4595 children attended during the period, 605 were diagnosed with epilepsy (13.17%): 156 (25.79%) idiopathic epilepsies and 172 (28.43%) cryptogenic epilepsies. The average age at onset of the total was 4.78 years: 6.31 years in idiopathic epilepsies and 5.43 years in cryptogenic epilepsies. 26.12% of all the epilepsies began in the first year of life. Idiopathic epilepsy predominates in the startup group of 6-10 years and cryptogenic epilepsy in 3-6 years. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent. CONCLUSIONS: Many differences exist among published epidemiological data on childhood epilepsy due to the difficulty of a syndromic diagnosis in children, caused by clinical and electroencephalographic variability. The absence of a universally accepted classification of epileptic syndromes makes it difficult to compare publications. All epilepsies are symptomatic as they have a cause, whether it be genetic or acquired. A useful classification would be etiological, with two groups: one large with established etiology or very likely genetic syndromes and another with no established cause. The age at onset indicates specific etiologies.
TITLE: Estudio descriptivo de las epilepsias no sintomaticas segun la edad de inicio en una unidad de neuropediatria de referencia regional.Objetivo. Estudio descriptivo de las epilepsias no sintomaticas (idiopaticas y criptogenicas), segun la edad de inicio, controladas en una unidad de neuropediatria de referencia regional durante tres años. Pacientes y metodos. Revision de historias de niños con epilepsia no sintomatica de la base de datos de neuropediatria controlados del 1 de enero de 2008 al 31 de diciembre de 2010. Resultados. De 4.595 niños atendidos en el periodo, se diagnosticaron de epilepsia 605 (13,17%), de las cuales 156 (25,79%) fueron idiopaticas, y 172 (28,43%), criptogenicas. La edad media de inicio del total fue de 4,78 años; 6,31 años en las idiopaticas y 5,43 años en las criptogenicas. El 26,12% del total de epilepsias se inicio en el primer año. Las epilepsias idiopaticas predominan en el grupo de inicio de 6-10 años, y las criptogenicas, en el de 3-6 años. La epilepsia de ausencias y la epilepsia benigna de la infancia con paroxismos centrotemporales son los sindromes epilepticos idiopaticos mas prevalentes. Conclusiones. Existen muchas diferencias de datos epidemiologicos publicados sobre epilepsia infantil por la dificultad que entraña un diagnostico sindromico en la edad pediatrica, debido a la variabilidad clinica y electroencefalografica. La ausencia de una clasificacion universalmente aceptada de los sindromes epilepticos dificulta comparaciones entre series. Todas las epilepsias son sintomaticas, puesto que tienen causa, sea genetica o adquirida. Una clasificacion util es la etiologica, con dos grupos: un gran grupo con las etiologias establecidas o sindromes geneticos muy probables y otro de casos sin causa establecida. La edad de inicio orienta a determinadas etiologias.
Assuntos
Idade de Início , Epilepsia Tipo Ausência/epidemiologia , Epilepsia Rolândica/epidemiologia , Epilepsia/epidemiologia , Criança , Pré-Escolar , Eletroencefalografia , Humanos , SíndromeRESUMO
Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome.