ABSTRACT
CASE REPORT: We report the case of an infant with septo-optic dysplasia, or Morsier's syndrome, which is a condition affecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. CONCLUSIONS: It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essential to establish a diagnosis and treatment as early as possible. Prognosis is general favourable.
Subject(s)
Septo-Optic Dysplasia/diagnosis , Child, Preschool , Female , Humans , Infant , Septo-Optic Dysplasia/pathologyABSTRACT
Caso clínico. Se presenta el caso de una lactante con displasia septóptica o síndrome de Morsier, una entidad del sistema nervioso central que sólo puede confirmarse por medio de neuroimágenes. Este síndrome consiste en la hipoplasia de uno o ambos nervios ópticos, ausencia de septo pelúcido, agenesia de cuerpo calloso, atrofia cerebelosa, dilatación ventricular y quistes cerebrales, junto con neurohipófisis ectópica, aplásica o hipoplásica. Conclusiones. Se trata de una enfermedad infrecuente y de etiología poco clara, en la que predomina la hipótesis genética. No se conoce el mecanismo de transmisión hereditaria. De forma característica, la edad materna suele ser baja; es conocido que en más de la mitad de los niños afectados eran hijos de madres con edad inferior a 20 años. Puede acompañarse de daño hepático y es de gran importancia su diagnósticotemprano e instauración de tratamiento. El pronóstico en general es bueno
We report the case of an infant with septo-optic dysplasia, or Morsiers syndrome, which is a conditionaffecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. Conclusions. It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essentialto establish a diagnosis and treatment as early as possible. Prognosis is general favourable
Subject(s)
Humans , Female , Infant , Septo-Optic Dysplasia/diagnosis , Zona Pellucida , Corpus Callosum/abnormalities , Optic Nerve Diseases/diagnosis , Pituitary Diseases/diagnosisABSTRACT
El objetivo de este trabajo es presentar la reacción de la lesión retiniana posterior a un traumatismo ocular cerrado. Se realizó fluorangiografía utilizando cámara retiniana Topcon 50/IA, cámara digital Kodak Megaplus, sistema de imágenes digitales IMAGEnet, fluoresceína vía oral, verde de indocianina y filtros para diversasa longitudes de onda. Se observó una dilatación franca de los vasos coroideos en el área afectada (ojo derecho, OD) en comparación con el ojo sano (ojo izquierdo, OI) un mes después del traumatismo. Los métodos digitales de exploración del fondo de ojo usando longitudes de onda de 800 nm permiten la observación directa de la coroides, lo que contribuirá al avance en el conocimiento de esta estructura y de su patología
