Lisencefalia y epilepsia en pediatría

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dc.contributor.authorHernández Chávez, Marta Isabel
dc.contributor.authorBolte Marlhoz, Lillian
dc.contributor.authorMesa Latorre, Tomás
dc.contributor.authorEscobar Henríquez, Raul
dc.contributor.authorMellado Sagredo, Cecilia
dc.contributor.authorHuete Lira, Isidro
dc.date.accessioned2024-01-10T14:22:54Z
dc.date.available2024-01-10T14:22:54Z
dc.date.issued2007
dc.description.abstractBackground: Lissencephaly is a brain malformation caused by defective neuronal migration and characterized by epilepsy and severe psychomotor retardation, with high mortality. Objective: Describe the clinical presentation, neuroradiologic characteristics and evolution of 9 children with lissencephaly. Results: 9 children (4 males) were controlled between 1999 and 2007. The diagnosis was made during the neonatal period in 4 patients; 3 cases presented seizures and microcephaly, while 1 newborn had a prenatal ultrasonography showing cerebral malformation. The diagnosis was made during the first year of life in 5 patients; 4 cases had epilepsy, severe psychomotor retardation and microcephaly, while 1 child had macrocephaly. During follow-up period, 8/9 children had catastrophic epilepsy and severe psychomotor retardation. Conclusions: Lissencephaly is a pathology with bad prognosis, usually diagnosed during the first year of life. Symptoms include refractory epilepsy and severe psychomotor delay. It is important to complete the evaluation with genetic studies and high - resolution neuroimaging, in order to perform an early diagnosis, predict evolution and offer genetic counsil. © 2008 Sociedad Chilena de Pediatría.
dc.fechaingreso.objetodigital2024-06-25
dc.fuente.origenScopus
dc.identifier.eissn07176228
dc.identifier.issn0370-4106
dc.identifier.issn0717-6228
dc.identifier.scopusidSCOPUS_ID:47249154875
dc.identifier.urihttp://dx.doi.org/10.4067/S0370-41062007000700007
dc.information.autorucEscuela de Medicina ; Hernández Chavez, Marta Isabel ; 0000-0002-4238-8969 ; 55673
dc.information.autorucEscuela de Medicina; Mellado Sagredo, Cecilia ; 0000-0002-6032-4651 ; 1002671
dc.information.autorucEscuela de Medicina ; Bolte Marlhoz, Lillian ; 0000-0003-2366-3803 ; 18472
dc.information.autorucEscuela de Medicina ; Escobar Henríquez, Raul ; 0000-0001-9894-0727 ;18472
dc.information.autorucEscuela de Medicina ; Mesa Latorre, Tomás ; S/I ; 99641
dc.information.autorucEscuela de Medicina ; Huete Lira, Isidro ; S/I ; 98812
dc.issue.numero6
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final620
dc.pagina.inicio615
dc.revistaRevista Chilena de Pediatria
dc.rightsacceso abierto
dc.subjectEpilepsy
dc.subjectLissencephaly
dc.titleLisencefalia y epilepsia en pediatría
dc.typeartículo
dc.volumen78
sipa.codpersvinculados55673
sipa.codpersvinculados1002671
sipa.codpersvinculados18472
sipa.codpersvinculados18472
sipa.codpersvinculados99641
sipa.codpersvinculados98812
sipa.indexScopus
sipa.indexWOS
sipa.indexScielo
sipa.trazabilidadCarga SIPA;09-01-2024
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