First reported case of septo-optic dysplasia in Lara state, Venezuela

Revista Venezolana de Salud Publica

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Title First reported case of septo-optic dysplasia in Lara state, Venezuela
Primer caso reportado de displasia septo-óptica en el estado Lara, Venezuela
 
Creator Estrada, Pedro
Ferrer, Andrea
Calles, José
Escalona, Francelys
González, María
García, Luis
 
Description The Septo-Optic Dysplasia is a congenital hypoplasia of the optic nerves, structural alterations in the midline of the brain, primarily the absence of septum pellucidum and pituitary hypothalamic dysfunction, which is unstable. This paper describes the findings of a patient infant with septo-optic dysplasia, who is referred to the Genetics Medical Health Sciences of the University "Lisandro Alvarado". Findings are discussed, literature is reviewed and compared the features of this patient with the literature indicated. A diagnosis of Septo-Optic Dysplasia using this physical findings and neuro imaging.
La Displasia Septo-Óptica (DSO) consiste en la hipoplasia congénita de los nervios ópticos, alteraciones estructurales en la línea media del cerebro, fundamentalmente ausencia del septum pellucidum, y disfunción hipotálamo-hipofisaria, la cual es inconstante. En el presente trabajo se describen los hallazgos de una paciente, lactante menor, con Displasia Septo-Óptica, quien es referida a la consulta de Genética Médica de Ciencias de la Salud de la Universidad Centroccidental “Lisandro Alvarado”. Se discuten hallazgos, se revisa literatura y se comparan las características de esta paciente con respecto a la bibliografía señalada. Se llega al diagnóstico de  Displasia Septo-Óptica utilizando para ello los hallazgos físicos y neuroradiológicos.
 
Publisher Universidad Centroccidental Lisandro Alvarado
 
Date 2018-08-12
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format application/pdf
 
Identifier https://revistas.ucla.edu.ve/index.php/rvsp/article/view/1571
 
Source Revista Venezolana de Salud Pública; Vol 1 No 1 (2013): January-June; 49-53
Revista Venezolana de Salud Pública; Vol. 1 Núm. 1 (2013): Enero-Junio; 49-53
2343-5534
2343-5526
 
Language spa
 
Relation https://revistas.ucla.edu.ve/index.php/rvsp/article/view/1571/792
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