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Diagnóstico prenatal del complejo agnatia holoprosencefalia

Authors

  • P Oviedo Facultad de Ciencias Médicas, UNA

Keywords:

Agnatia, holoproscencefalia, ciclopía, diagnóstico prenatal

Abstract

El complejo agnatia holoprosencefalia o complejo disgnatia constituye un grupo de malformaciones severas que compromete el desarrollo del sistema nervioso central y de los arcos branquiales; casi siempre es incompatible con la vida y su extrema complejidad puede explicar su baja frecuencia, 1:100.000 neonatos.Primer caso reportado en la literatura paraguaya, gestante de 16 años, no exposición a teratógenos, remita al servicio. La ecografía informó polihidramnios, orbita ocular única, implantación baja de orejas bilateral y ausencia de cavidades bucal y nasal. Cariotipo 46XY. Nació por cesárea producto vivo, que fallece a los 15 minutos, presenta microcefalia, fontanelas cerradas, ciclopía, implantación baja de orejas, agenesia naso-bucal con esbozo único por debajo de la cavidad orbitaria con orificio permeable. Estudio radiológico: agenesia del maxilar inferior, con hipoplasia del maxilar superior. Autopsia: Holoprosencefalia alobar; ciclopía, sinoftalmia, sinotia, arhinia, agnatia; cardiopatía, pulmones hipoplásicos; criptorquidia bilateral; hipoplasia gástrica; y cordón umbilical con dos luces vasculares. La holoprosencefalia y ciclopía deben ser sospechadas durante la ecografía obstétrica de rutina y realizar ecografía detallada para corroborar diagnóstico y buscar otros defectos asociados. Es obligatoria la indicación de cariotipo fetal. Se recomienda el seguimiento obstétrico normal en los embarazos posteriores que continúan. No existen intervenciones fetales que cambien el pronóstico de los fetos con esta patología. 

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References

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Published

2011-06-01

Issue

Vol. 9 No. 1 (2011): Enero-Junio

Section

Case report

How to Cite

Oviedo, P. (2011). Diagnóstico prenatal del complejo agnatia holoprosencefalia. Memorias Del Instituto De Investigaciones En Ciencias De La Salud, 9(1). https://revistascientificas.una.py/index.php/RIIC/article/view/1687